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2019-03-23 03:29:58, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_002911               5360 bp    mRNA    linear   PRI 12-MAY-2013
DEFINITION  Homo sapiens UPF1 regulator of nonsense transcripts homolog (yeast)
            (UPF1), mRNA.
ACCESSION   NM_002911
VERSION     NM_002911.3  GI:88853067
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5360)
  AUTHORS   Kurosaki,T. and Maquat,L.E.
  TITLE     Rules that govern UPF1 binding to mRNA 3' UTRs
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 110 (9), 3357-3362 (2013)
   PUBMED   23404710
  REMARK    GeneRIF: nonsense-mediated mRNA decay involves UPF1 binding along a
            3' UTR whether the 3' UTR contains an exon-junction complex.
REFERENCE   2  (bases 1 to 5360)
  AUTHORS   Fiorini,F., Boudvillain,M. and Le Hir,H.
  TITLE     Tight intramolecular regulation of the human Upf1 helicase by its
            N- and C-terminal domains
  JOURNAL   Nucleic Acids Res. 41 (4), 2404-2415 (2013)
   PUBMED   23275559
  REMARK    GeneRIF: The SQ domain of the human Upf1 helicase, directly
            interacts with the helicase domain to impede ATP hydrolysis and RNA
            unwinding.
REFERENCE   3  (bases 1 to 5360)
  AUTHORS   Panelli,D., Lorusso,F.P., Trentadue,R., Stella,A., Sardanelli,A.M.
            and Papa,S.
  TITLE     The hUPF1-NMD factor controls the cellular transcript levels of
            different genes of complex I of the respiratory chain
  JOURNAL   Biochimie 94 (12), 2600-2607 (2012)
   PUBMED   22889941
  REMARK    GeneRIF: Data indicate a specific impact of hUPF1 on the regulation
            of complex I genes.
REFERENCE   4  (bases 1 to 5360)
  AUTHORS   Varsally,W. and Brogna,S.
  TITLE     UPF1 involvement in nuclear functions
  JOURNAL   Biochem. Soc. Trans. 40 (4), 778-783 (2012)
   PUBMED   22817733
  REMARK    GeneRIF: Data show that UPF1 also interacts with proteins
            associated with nuclear RNA degradation and transcription
            termination
            Review article
REFERENCE   5  (bases 1 to 5360)
  AUTHORS   Imamachi,N., Tani,H. and Akimitsu,N.
  TITLE     Up-frameshift protein 1 (UPF1): multitalented entertainer in RNA
            decay
  JOURNAL   Drug Discov Ther 6 (2), 55-61 (2012)
   PUBMED   22622014
  REMARK    GeneRIF: UPF1 is an important factor for the RNA quality control
            system and the regulation of physiological gene expression, and
            contributes to DNA replication, DNA repair, telomere metabolism,
            and stabilization of HIV-1 genomic RNA.
            Review article
REFERENCE   6  (bases 1 to 5360)
  AUTHORS   Page,M.F., Carr,B., Anders,K.R., Grimson,A. and Anderson,P.
  TITLE     SMG-2 is a phosphorylated protein required for mRNA surveillance in
            Caenorhabditis elegans and related to Upf1p of yeast
  JOURNAL   Mol. Cell. Biol. 19 (9), 5943-5951 (1999)
   PUBMED   10454541
REFERENCE   7  (bases 1 to 5360)
  AUTHORS   Czaplinski,K., Ruiz-Echevarria,M.J., Paushkin,S.V., Han,X.,
            Weng,Y., Perlick,H.A., Dietz,H.C., Ter-Avanesyan,M.D. and
            Peltz,S.W.
  TITLE     The surveillance complex interacts with the translation release
            factors to enhance termination and degrade aberrant mRNAs
  JOURNAL   Genes Dev. 12 (11), 1665-1677 (1998)
   PUBMED   9620853
REFERENCE   8  (bases 1 to 5360)
  AUTHORS   Applequist,S.E., Selg,M., Raman,C. and Jack,H.M.
  TITLE     Cloning and characterization of HUPF1, a human homolog of the
            Saccharomyces cerevisiae nonsense mRNA-reducing UPF1 protein
  JOURNAL   Nucleic Acids Res. 25 (4), 814-821 (1997)
   PUBMED   9064659
REFERENCE   9  (bases 1 to 5360)
  AUTHORS   Perlick,H.A., Medghalchi,S.M., Spencer,F.A., Kendzior,R.J. Jr. and
            Dietz,H.C.
  TITLE     Mammalian orthologues of a yeast regulator of nonsense transcript
            stability
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 93 (20), 10928-10932 (1996)
   PUBMED   8855285
REFERENCE   10 (bases 1 to 5360)
  AUTHORS   Horikoshi,M., Sekimizu,K. and Natori,S.
  TITLE     Analysis of the stimulatory factor of RNA polymerase II in the
            initiation and elongation complex
  JOURNAL   J. Biol. Chem. 259 (1), 608-611 (1984)
   PUBMED   6200476
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CB960545.1, BC039817.1 and
            BQ950083.1.
            On Feb 24, 2006 this sequence version replaced gi:18375672.
            
            Summary: This gene encodes a protein that is part of a
            post-splicing multiprotein complex involved in both mRNA nuclear
            export and mRNA surveillance. mRNA surveillance detects exported
            mRNAs with truncated open reading frames and initiates
            nonsense-mediated mRNA decay (NMD). When translation ends upstream
            from the last exon-exon junction, this triggers NMD to degrade
            mRNAs containing premature stop codons. This protein is located
            only in the cytoplasm. When translation ends, it interacts with the
            protein that is a functional homolog of yeast Upf2p to trigger mRNA
            decapping. Use of multiple polyadenylation sites has been noted for
            this gene. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC039817.1, U65533.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025081, ERS025082 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-559               CB960545.1         33-591
            560-4242            BC039817.1         557-4239
            4243-4952           BQ950083.1         9-718
            4953-5360           BC039817.1         4950-5357
FEATURES             Location/Qualifiers
     source          1..5360
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.2-p13.11"
     gene            1..5360
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /note="UPF1 regulator of nonsense transcripts homolog
                     (yeast)"
                     /db_xref="GeneID:5976"
                     /db_xref="HGNC:9962"
                     /db_xref="HPRD:03254"
                     /db_xref="MIM:601430"
     exon            1..506
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /inference="alignment:Splign:1.39.8"
     variation       145
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:4808161"
     misc_feature    207..209
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /note="upstream in-frame stop codon"
     variation       226
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:368452687"
     variation       259
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370409504"
     CDS             276..3632
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /note="delta helicase; smg-2 homolog, nonsense mediated
                     mRNA decay factor; UP Frameshift 1; nonsense mRNA reducing
                     factor 1; yeast Upf1p homolog; ATP-dependent helicase
                     RENT1; up-frameshift suppressor 1 homolog; up-frameshift
                     mutation 1 homolog"
                     /codon_start=1
                     /product="regulator of nonsense transcripts 1"
                     /protein_id="NP_002902.2"
                     /db_xref="GI:18375673"
                     /db_xref="CCDS:CCDS12386.1"
                     /db_xref="GeneID:5976"
                     /db_xref="HGNC:9962"
                     /db_xref="HPRD:03254"
                     /db_xref="MIM:601430"
                     /translation="
MSVEAYGPSSQTLTFLDTEEAELLGADTQGSEFEFTDFTLPSQTQTPPGGPGGPGGGGAGGPGGAGAGAAAGQLDAQVGPEGILQNGAVDDSVAKTSQLLAELNFEEDEEDTYYTKDLPIHACSYCGIHDPACVVYCNTSKKWFCNGRGNTSGSHIVNHLVRAKCKEVTLHKDGPLGETVLECYNCGCRNVFLLGFIPAKADSVVVLLCRQPCASQSSLKDINWDSSQWQPLIQDRCFLSWLVKIPSEQEQLRARQITAQQINKLEELWKENPSATLEDLEKPGVDEEPQHVLLRYEDAYQYQNIFGPLVKLEADYDKKLKESQTQDNITVRWDLGLNKKRIAYFTLPKTDSDMRLMQGDEICLRYKGDLAPLWKGIGHVIKVPDNYGDEIAIELRSSVGAPVEVTHNFQVDFVWKSTSFDRMQSALKTFAVDETSVSGYIYHKLLGHEVEDVIIKCQLPKRFTAQGLPDLNHSQVYAVKTVLQRPLSLIQGPPGTGKTVTSATIVYHLARQGNGPVLVCAPSNIAVDQLTEKIHQTGLKVVRLCAKSREAIDSPVSFLALHNQIRNMDSMPELQKLQQLKDETGELSSADEKRYRALKRTAERELLMNADVICCTCVGAGDPRLAKMQFRSILIDESTQATEPECMVPVVLGAKQLILVGDHCQLGPVVMCKKAAKAGLSQSLFERLVVLGIRPIRLQVQYRMHPALSAFPSNIFYEGSLQNGVTAADRVKKGFDFQWPQPDKPMFFYVTQGQEEIASSGTSYLNRTEAANVEKITTKLLKAGAKPDQIGIITPYEGQRSYLVQYMQFSGSLHTKLYQEVEIASVDAFQGREKDFIILSCVRANEHQGIGFLNDPRRLNVALTRARYGVIIVGNPKALSKQPLWNHLLNYYKEQKVLVEGPLNNLRESLMQFSKPRKLVNTINPGARFMTTAMYDAREAIIPGSVYDRSSQGRPSSMYFQTHDQIGMISAGPSHVAAMNIPIPFNLVMPPMPPPGYFGQANGPAAGRGTPKGKTGRGGRQKNRFGLPGPSQTNLPNSQASQDVASQPFSQGALTQGYISMSQPSQMSQPGLSQPELSQDSYLGDEFKSQIDVALSQDSTYQGERAYQHGGVTGLSQY
"
     misc_feature    708..3002
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /note="Superfamily I DNA and RNA helicases and helicase
                     subunits [DNA replication, recombination, and repair];
                     Region: COG1112"
                     /db_xref="CDD:31309"
     misc_feature    1704..1892
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /note="Part of AAA domain; Region: AAA_19; pfam13245"
                     /db_xref="CDD:205425"
     misc_feature    1758..1772
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /note="ATP binding site [chemical binding]; other site"
                     /db_xref="CDD:28927"
     misc_feature    2313..2906
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /note="AAA domain; Region: AAA_12; pfam13087"
                     /db_xref="CDD:205268"
     misc_feature    3507..3512
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92900.2);
                     Region: [ST]-Q motif 1"
     misc_feature    3507..3509
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (Q92900.2); phosphorylation site"
     misc_feature    3561..3566
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92900.2);
                     Region: [ST]-Q motif 2"
     misc_feature    3561..3563
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (Q92900.2); phosphorylation site"
     misc_feature    3561..3563
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
     misc_feature    3570..3572
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (Q92900.2); phosphorylation site"
     misc_feature    3570..3572
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
     misc_feature    3573..3575
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
     misc_feature    3621..3623
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (Q92900.2); phosphorylation site"
     misc_feature    3621..3623
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
     variation       296
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:201726058"
     variation       336
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:199755973"
     variation       337
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200829481"
     variation       381
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:374572356"
     variation       389
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:147358907"
     variation       411
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:139448059"
     variation       413
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:80065570"
     variation       435
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:368132706"
     variation       455
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:12976276"
     variation       456
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:12976930"
     variation       480
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:17339451"
     exon            507..646
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /inference="alignment:Splign:1.39.8"
     variation       515
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:35427308"
     variation       525
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:139570200"
     variation       533
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:149711534"
     variation       567
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:201174383"
     variation       613
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373966180"
     variation       617
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:141316223"
     variation       627
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:62138060"
     variation       632
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:200826658"
     exon            647..736
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /inference="alignment:Splign:1.39.8"
     variation       656
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:73526913"
     variation       674
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:374584074"
     exon            737..904
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /inference="alignment:Splign:1.39.8"
     variation       763
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:146801532"
     variation       794
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:140502881"
     variation       839
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:76289621"
     variation       869
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:143825528"
     variation       878
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:368356872"
     exon            905..1085
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /inference="alignment:Splign:1.39.8"
     variation       934..935
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace=""
                     /replace="g"
                     /db_xref="dbSNP:71336701"
     variation       955
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:367878096"
     variation       969
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370517239"
     variation       1016
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:146140734"
     variation       1029
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:202161539"
     variation       1035
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:36064131"
     exon            1086..1247
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /inference="alignment:Splign:1.39.8"
     variation       1103
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:375912423"
     variation       1127
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:369752995"
     variation       1142
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:376877267"
     variation       1151
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:371647168"
     variation       1217
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:376694927"
     variation       1226
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:148154936"
     variation       1243
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:367655310"
     exon            1248..1332
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /inference="alignment:Splign:1.39.8"
     exon            1333..1431
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /inference="alignment:Splign:1.39.8"
     variation       1338
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:141051363"
     variation       1378
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:371227780"
     variation       1388
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:374139415"
     variation       1403
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:368268595"
     variation       1406
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:143785290"
     variation       1412
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370778318"
     variation       1424
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:372436600"
     exon            1432..1540
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /inference="alignment:Splign:1.39.8"
     variation       1439
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:150253679"
     variation       1458
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:371536077"
     variation       1469
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:144265702"
     variation       1472
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:201936003"
     variation       1498
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200619044"
     variation       1526
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:114623873"
     exon            1541..1700
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /inference="alignment:Splign:1.39.8"
     variation       1544
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:372479768"
     variation       1553
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200925901"
     variation       1562
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:147376015"
     variation       1583
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:137917420"
     variation       1613
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:190206018"
     variation       1625
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200234223"
     variation       1655
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:143368503"
     variation       1667
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:113067312"
     variation       1679
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:144165107"
     variation       1682
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:148681833"
     exon            1701..1819
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /inference="alignment:Splign:1.39.8"
     variation       1754
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:145208005"
     variation       1795
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:142212679"
     variation       1807
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:374966308"
     variation       1813
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1128014"
     exon            1820..1984
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /inference="alignment:Splign:1.39.8"
     variation       1823
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:377707243"
     variation       1868
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:369640822"
     variation       1898
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:140049775"
     variation       1910
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:150324027"
     exon            1985..2099
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /inference="alignment:Splign:1.39.8"
     variation       2021
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:34266994"
     variation       2039
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201992127"
     exon            2100..2243
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /inference="alignment:Splign:1.39.8"
     variation       2123
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201603251"
     variation       2132
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:371929470"
     variation       2135
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:34677724"
     variation       2144
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:146805409"
     variation       2161
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:376043023"
     variation       2166
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:367803735"
     variation       2183
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:140516243"
     variation       2192
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:371705955"
     variation       2207
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:377256606"
     variation       2231
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:113001728"
     exon            2244..2457
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /inference="alignment:Splign:1.39.8"
     variation       2252
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:149976729"
     variation       2275
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201321603"
     variation       2300
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:369728050"
     variation       2324
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:145179613"
     variation       2330
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:149225517"
     variation       2392
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:143390710"
     variation       2402
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370578318"
     variation       2450
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:8103462"
     exon            2458..2575
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /inference="alignment:Splign:1.39.8"
     variation       2458
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:141708625"
     variation       2459
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:146958133"
     variation       2477
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201575875"
     variation       2493
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1062846"
     variation       2501
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:137982741"
     variation       2522
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:45505499"
     exon            2576..2732
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /inference="alignment:Splign:1.39.8"
     variation       2588
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:371034118"
     variation       2649
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:369669185"
     variation       2663
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:367795323"
     variation       2675
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200946604"
     variation       2712
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:187386292"
     variation       2714
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:374211846"
     exon            2733..2875
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /inference="alignment:Splign:1.39.8"
     variation       2756
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:367665925"
     variation       2834
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:74716467"
     variation       2855
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:75412111"
     variation       2873
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:376973022"
     exon            2876..3050
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /inference="alignment:Splign:1.39.8"
     variation       2883
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:149336516"
     variation       2886
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:372653793"
     variation       2934
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:374426265"
     variation       2944
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:1044704"
     variation       2981
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:200092149"
     variation       3043
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:200713386"
     variation       3049
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:189120195"
     exon            3051..3132
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /inference="alignment:Splign:1.39.8"
     variation       3122
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:375059419"
     exon            3133..3294
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /inference="alignment:Splign:1.39.8"
     variation       3188
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:144600297"
     variation       3189
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:375690310"
     variation       3239
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:371146514"
     variation       3286
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:374505878"
     exon            3295..3512
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /inference="alignment:Splign:1.39.8"
     variation       3329
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:376681085"
     variation       3334
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:139317612"
     variation       3358
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:144073786"
     variation       3374
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:146339873"
     variation       3379
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:77745099"
     variation       3385..3386
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace=""
                     /replace="c"
                     /db_xref="dbSNP:150498421"
     variation       3409
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:140671518"
     variation       3410
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:199878035"
     variation       3429
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:75906703"
     variation       3452
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:142907537"
     variation       3485
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:151123373"
     variation       3498
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370175489"
     variation       3500
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:151048153"
     exon            3513..3635
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /inference="alignment:Splign:1.39.8"
     variation       3530
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:368638196"
     variation       3533
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200948107"
     variation       3572
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:140929349"
     exon            3636..5345
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /inference="alignment:Splign:1.39.8"
     polyA_signal    3692..3697
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
     polyA_signal    3699..3704
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
     variation       3702
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:28593000"
     polyA_signal    3705..3710
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
     polyA_site      3736
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
     variation       4058
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:150206113"
     variation       4067
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373365357"
     variation       4074
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:377704231"
     variation       4143
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:375666076"
     variation       4243
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:10410987"
     variation       4320..4322
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace=""
                     /replace="gag"
                     /db_xref="dbSNP:368976978"
     variation       4386..4387
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace=""
                     /replace="tc"
                     /db_xref="dbSNP:149299470"
     variation       4425
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:57677886"
     variation       4443
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:139041545"
     variation       4556
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:10416469"
     variation       4570
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:184160667"
     variation       4659
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:141504239"
     variation       4701
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:147066799"
     variation       4786
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:118015691"
     variation       4922
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:111864205"
     variation       4976
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:149305347"
     variation       5048..5051
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace=""
                     /replace="ttat"
                     /db_xref="dbSNP:146615704"
     STS             5064..5233
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /standard_name="RH36847"
                     /db_xref="UniSTS:86171"
     STS             5072..5279
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /standard_name="RH25427"
                     /db_xref="UniSTS:40837"
     variation       5103
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:374568671"
     variation       5128
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:15170"
     variation       5129
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:12879"
     variation       5180
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:200588359"
     variation       5198
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:189584532"
     STS             5217..5282
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /standard_name="D19S842E"
                     /db_xref="UniSTS:153964"
     STS             5218..5323
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /standard_name="A006H36"
                     /db_xref="UniSTS:63779"
     variation       5276
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:148071132"
     variation       5308
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:141785250"
     variation       5316
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:1044693"
     variation       5325..5327
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
                     /replace=""
                     /replace="taa"
                     /db_xref="dbSNP:373706311"
     polyA_signal    5326..5331
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
     polyA_site      5345
                     /gene="UPF1"
                     /gene_synonym="HUPF1; NORF1; pNORF1; RENT1; smg-2"
ORIGIN      
cacggcgacggcggcggtggcggcagttcctgctctaggctgcgagcggctggcggcttcgaggggagctgaggcgcggaggggctcggcggcagcggcggcggctcggcactgttacctctcggtccggctggcgccggggcgcgcggtttggtcctttccgggcgcgcgggggcgacagcggcagcgacccgaggcctgcggcctaggcctcagcgcggcggcgggctcgagtgcagcgcggaaccggcccgagggccctacccggaggcaccatgagcgtggaggcgtacgggcccagctcgcagactctcactttcctggacacggaggaggccgagctgcttggcgccgacacacagggctccgagttcgagttcaccgactttactcttcctagccagacgcagacgccccccggcggccccggcggcccgggcggtggcggcgcgggaggcccgggcggcgcgggcgcgggcgctgcggcgggacagctcgacgcgcaggttgggcccgaaggcatcctgcagaacggggctgtggacgacagtgtagccaagaccagccagttgttggctgagttgaacttcgaggaagatgaagaagacacctattacacgaaggacctccccatacacgcctgcagttactgtggaatacacgatcctgcctgcgtggtttactgtaataccagcaagaagtggttctgcaacggacgtggaaatacttctggcagccacattgtaaatcaccttgtgagggcaaaatgcaaagaggtgaccctgcacaaggacgggcccctgggggagacagtcctggagtgctacaactgcggctgtcgcaacgtcttcctcctcggcttcatcccggccaaagctgactcagtggtggtgctgctgtgcaggcagccctgtgccagccagagcagcctcaaggacatcaactgggacagctcgcagtggcagccgctgatccaggaccgctgcttcctgtcctggctggtcaagatcccctccgagcaggagcagctgcgggcacgccagatcacggcacagcagatcaacaagctggaggagctgtggaaggaaaacccttctgccacgctggaggacctggagaagccgggggtggacgaggagccgcagcatgtcctcctgcggtacgaggacgcctaccagtaccagaacatattcgggcccctggtcaagctggaggccgactacgacaagaagctgaaggagtcccagactcaagataacatcactgtcaggtgggacctgggccttaacaagaagagaatcgcctacttcactttgcccaagactgactctgacatgcggctcatgcagggggatgagatatgcctgcggtacaaaggggaccttgcgcccctgtggaaagggatcggccacgtcatcaaggtccctgataattatggcgatgagatcgccattgagctgcggagcagcgtgggtgcacctgtggaggtgactcacaacttccaggtggattttgtgtggaagtcgacctcctttgacaggatgcagagcgcattgaaaacgtttgccgtggatgagacctcggtgtctggctacatctaccacaagctgttgggccacgaggtggaggacgtaatcatcaagtgccagctgcccaagcgcttcacggcgcagggcctccccgacctcaaccactcccaggtttatgccgtgaagactgtgctgcaaagaccactgagcctgatccagggcccgccaggcacggggaagacggtgacgtcggccaccatcgtctaccacctggcccggcaaggcaacgggccggtgctggtgtgtgctccgagcaacatcgccgtggaccagctaacggagaagatccaccagacggggctaaaggtcgtgcgcctctgcgccaagagccgtgaggccatcgactccccggtgtcttttctggccctgcacaaccagatcaggaacatggacagcatgcctgagctgcagaagctgcagcagctgaaagacgagactggggagctgtcgtctgccgacgagaagcggtaccgggccttgaagcgcaccgcagagagagagctgctgatgaacgcagatgtcatctgctgcacatgtgtgggcgccggtgacccgaggctggccaagatgcagttccgctccattttaatcgacgaaagcacccaggccaccgagccggagtgcatggttcccgtggtcctcggggccaagcagctgatccttgtaggcgaccactgccagctgggcccagtggtgatgtgcaagaaggcggccaaggccgggctgtcacagtcgctcttcgagcgcctggtggtgctgggcatccggcccatccgcctgcaggtccagtaccggatgcaccctgcactcagcgccttcccatccaacatcttctacgagggctccctccagaatggtgtcactgcagcggatcgtgtgaagaagggatttgacttccagtggccccaacccgataaaccgatgttcttctacgtgacccagggccaagaggagattgccagctcgggcacctcctacctgaacaggaccgaggctgcgaacgtggagaagatcaccacgaagttgctgaaggcaggcgccaagccggaccagattggcatcatcacgccctacgagggccagcgctcctacctggtgcagtacatgcagttcagcggctccctgcacaccaagctctaccaggaggtggagatcgccagtgtggacgcctttcagggacgcgagaaggacttcatcatcctgtcctgtgtgcgggccaacgagcaccaaggcattggctttttaaatgaccccaggcgtctgaacgtggccctgaccagagcaaggtatggcgtcatcattgtgggcaacccgaaggcactatcaaagcagccgctctggaaccacctgctgaactactataaggagcagaaggtgctggtggaggggccgctcaacaacctgcgtgagagcctcatgcagttcagcaagccacggaagctggtcaacactatcaacccgggagcccgcttcatgaccacagccatgtatgatgcccgggaggccatcatcccaggctccgtctatgatcggagcagccagggccggccttccagcatgtacttccagacccatgaccagattggcatgatcagtgccggccctagccacgtggctgccatgaacattcccatccccttcaacctggtcatgccacccatgccaccgcctggctattttggacaagccaacgggcctgctgcagggcgaggcaccccgaaaggcaagactggtcgtgggggacgccagaagaaccgctttgggcttcctggacccagccagactaacctccccaacagccaagccagccaggatgtggcgtcacagcccttctctcagggcgccctgacgcagggctacatctccatgagccagccttcccagatgagccagcccggcctctcccagccggagctgtcccaggacagttaccttggtgacgagtttaaatcacaaatcgacgtggcgctctcacaggactccacgtaccagggagagcgggcttaccagcatggcggggtgacggggctgtcccagtattaaaaggtggcggcggaagagctaagcaacgtggcttagtccatcagcatcttattctgggtaataaaaaataaaaataaacggatacctgttttccactgctaaaactgaagcaccactgtgtgagcaacaggaagggagagcgcacgagggagaggagccgaggccgagcgccccctgctggcccgcggcggcgaggagcagagggagcggaggaggggccggcccgcgggagccgcggccaccaggaggccccgctccgtcccatcggggctgcggccagggcggagggaggaagaccctcatctcagagtagccctttcctctgttcttttatttctttttctctttgattgaaaggggactacgtcttagcaggaaaaaaaacttcgcatttctgtgcccgagcaggctccttgcaaagacagcagcgtgcggggcagagccccgggagggcgcgtctgtccacgcctaccggacgcgccgaggtcgcgctgcctgtgttctccgagggccttcatttaaagaaaataagggtgttttgggtttttctctttgtttttttcaagattcttttaaaggagtactgaagaatactttcctaagtttgtctgtaaaatcttagcggtggacctgggagatttgagaagcttccagaaacagtttaaacaagccagcgctactggagaagaggagcaacacctgtgccgcggccggaggagttttgttgttggttttagcttccagtggcttctttctgcggggcatcaggctgctggggtagccgcccgccgagcctggaagctgctcgttctccgctggactcagaagccaagctgcttcccgcctagactcggcgcagggccccgcaccggtgaggaaggtgcttttggccccattgcgaggggccttggccaggactggccctgtggccaggaggcgagaaggtggctgttcccggattgacggctttttcccgggggcctttggaagatttggtggaaggacaagagggcctgtccctgtccccgtccccaggaggtaccgacagtccctgtgctggttagacacggagcgctgcacaccgaaagcccaaattgggagctctgcctgccggcaactttgctgatggggtgattgctgcttctggggggtaaggaaacaagttacagaaattaccgcgttctgtgtgaagggactgagggtgtggtgtcattggcagagggtcattttaggagagctgccccagcccctcgaacgcctggcttggggtgtcattctgcctggcggccaggcctccagcttcccctgccccgggcctggggctgtcactggccctgatccgaacacctccagattccggcttctacatgggacagacggggacgcacaggccaccttccttctggcagggactcttatttattcccattgctctagggctttcggtttccccttcttccggtaggccgcgtagaggcatgcaccgggtaggtttccgcggtgaccccgcggcggcctgagggacgctccctgccccatcccggctgttgggctgggccgctttgcctctgcttcgccctgtgctgtgttctccagctttgtagcagcagccttgacaaacccaggcgcactgtaccaaggcaatgtaacttttgattttcggtcaatttaagttcttttgtcaccaaatattaataaacagttttgacttcaaaaaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:5976 -> Molecular function: GO:0003677 [DNA binding] evidence: IEA
            GeneID:5976 -> Molecular function: GO:0003682 [chromatin binding] evidence: IDA
            GeneID:5976 -> Molecular function: GO:0003723 [RNA binding] evidence: NAS
            GeneID:5976 -> Molecular function: GO:0004004 [ATP-dependent RNA helicase activity] evidence: IDA
            GeneID:5976 -> Molecular function: GO:0004386 [helicase activity] evidence: NAS
            GeneID:5976 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
            GeneID:5976 -> Molecular function: GO:0005524 [ATP binding] evidence: IEA
            GeneID:5976 -> Molecular function: GO:0008270 [zinc ion binding] evidence: IEA
            GeneID:5976 -> Biological process: GO:0000184 [nuclear-transcribed mRNA catabolic process, nonsense-mediated decay] evidence: IDA
            GeneID:5976 -> Biological process: GO:0000184 [nuclear-transcribed mRNA catabolic process, nonsense-mediated decay] evidence: IMP
            GeneID:5976 -> Biological process: GO:0000184 [nuclear-transcribed mRNA catabolic process, nonsense-mediated decay] evidence: NAS
            GeneID:5976 -> Biological process: GO:0000184 [nuclear-transcribed mRNA catabolic process, nonsense-mediated decay] evidence: TAS
            GeneID:5976 -> Biological process: GO:0006260 [DNA replication] evidence: IMP
            GeneID:5976 -> Biological process: GO:0006281 [DNA repair] evidence: IDA
            GeneID:5976 -> Biological process: GO:0006406 [mRNA export from nucleus] evidence: TAS
            GeneID:5976 -> Biological process: GO:0006449 [regulation of translational termination] evidence: IMP
            GeneID:5976 -> Biological process: GO:0006449 [regulation of translational termination] evidence: NAS
            GeneID:5976 -> Biological process: GO:0007049 [cell cycle] evidence: IMP
            GeneID:5976 -> Biological process: GO:0009048 [dosage compensation by inactivation of X chromosome] evidence: IEA
            GeneID:5976 -> Biological process: GO:0010467 [gene expression] evidence: TAS
            GeneID:5976 -> Biological process: GO:0016070 [RNA metabolic process] evidence: TAS
            GeneID:5976 -> Biological process: GO:0016071 [mRNA metabolic process] evidence: TAS
            GeneID:5976 -> Biological process: GO:0071044 [histone mRNA catabolic process] evidence: IMP
            GeneID:5976 -> Cellular component: GO:0000785 [chromatin] evidence: IDA
            GeneID:5976 -> Cellular component: GO:0000932 [cytoplasmic mRNA processing body] evidence: IEA
            GeneID:5976 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
            GeneID:5976 -> Cellular component: GO:0005737 [cytoplasm] evidence: NAS
            GeneID:5976 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
            GeneID:5976 -> Cellular component: GO:0035145 [exon-exon junction complex] evidence: IDA
            GeneID:5976 -> Cellular component: GO:0044530 [supraspliceosomal complex] evidence: IDA

by @meso_cacase at DBCLS
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