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2025-05-09 18:28:58, 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 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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