GGRNA Home | Help | Advanced search

2024-03-29 18:49:54, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_001146096            2864 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens FANCD2/FANCI-associated nuclease 1 (FAN1), transcript
            variant 4, mRNA.
ACCESSION   NM_001146096
VERSION     NM_001146096.1  GI:226246528
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 2864)
  AUTHORS   Zhou,W., Otto,E.A., Cluckey,A., Airik,R., Hurd,T.W., Chaki,M.,
            Diaz,K., Lach,F.P., Bennett,G.R., Gee,H.Y., Ghosh,A.K.,
            Natarajan,S., Thongthip,S., Veturi,U., Allen,S.J., Janssen,S.,
            Ramaswami,G., Dixon,J., Burkhalter,F., Spoendlin,M., Moch,H.,
            Mihatsch,M.J., Verine,J., Reade,R., Soliman,H., Godin,M., Kiss,D.,
            Monga,G., Mazzucco,G., Amann,K., Artunc,F., Newland,R.C., Wiech,T.,
            Zschiedrich,S., Huber,T.B., Friedl,A., Slaats,G.G., Joles,J.A.,
            Goldschmeding,R., Washburn,J., Giles,R.H., Levy,S., Smogorzewska,A.
            and Hildebrandt,F.
  TITLE     FAN1 mutations cause karyomegalic interstitial nephritis, linking
            chronic kidney failure to defective DNA damage repair
  JOURNAL   Nat. Genet. 44 (8), 910-915 (2012)
   PUBMED   22772369
  REMARK    GeneRIF: By exome sequencing, we identified mutations in FAN1 as a
            cause of karyomegalic interstitial nephritis, a disorder that
            serves as a model for renal fibrosis.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2864)
  AUTHORS   Trujillo,J.P., Mina,L.B., Pujol,R., Bogliolo,M., Andrieux,J.,
            Holder,M., Schuster,B., Schindler,D. and Surralles,J.
  TITLE     On the role of FAN1 in Fanconi anemia
  JOURNAL   Blood 120 (1), 86-89 (2012)
   PUBMED   22611161
  REMARK    GeneRIF: Our results suggest that FAN1 has a minor role in
            interstrand crosslink repair compared with true Fanconi anemia
            genes and exclude FAN1 as a novel FA gene.
REFERENCE   3  (bases 1 to 2864)
  AUTHORS   Park,D.J., Odefrey,F.A., Hammet,F., Giles,G.G., Baglietto,L.,
            ABCFS, MCCS, Hopper,J.L., Schmidt,D.F., Makalic,E.,
            Sinilnikova,O.M., Goldgar,D.E. and Southey,M.C.
  TITLE     FAN1 variants identified in multiple-case early-onset breast cancer
            families via exome sequencing: no evidence for association with
            risk for breast cancer
  JOURNAL   Breast Cancer Res. Treat. 130 (3), 1043-1049 (2011)
   PUBMED   21858661
  REMARK    GeneRIF: Two FAN1 variants do not appear to be causal for breast
            cancer.
REFERENCE   4  (bases 1 to 2864)
  AUTHORS   Yoshikiyo,K., Kratz,K., Hirota,K., Nishihara,K., Takata,M.,
            Kurumizaka,H., Horimoto,S., Takeda,S. and Jiricny,J.
  TITLE     KIAA1018/FAN1 nuclease protects cells against genomic instability
            induced by interstrand cross-linking agents
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 107 (50), 21553-21557 (2010)
   PUBMED   21115814
  REMARK    GeneRIF: Data show that FAN1 in DT40 cells participates in the
            processing of damage induced by interstrand
            cross-linking-generating agents also independently of the classical
            FA pathway.
REFERENCE   5  (bases 1 to 2864)
  AUTHORS   Shereda,R.D., Machida,Y. and Machida,Y.J.
  TITLE     Human KIAA1018/FAN1 localizes to stalled replication forks via its
            ubiquitin-binding domain
  JOURNAL   Cell Cycle 9 (19), 3977-3983 (2010)
   PUBMED   20935496
  REMARK    GeneRIF: Data show that FAN1 is a nuclear protein and forms
            DNA-damage-induced foci, which appear to be at stalled replication
            forks as denoted by RPA colocalization.
REFERENCE   6  (bases 1 to 2864)
  AUTHORS   Liu,T., Ghosal,G., Yuan,J., Chen,J. and Huang,J.
  TITLE     FAN1 acts with FANCI-FANCD2 to promote DNA interstrand cross-link
            repair
  JOURNAL   Science 329 (5992), 693-696 (2010)
   PUBMED   20671156
  REMARK    GeneRIF: study characterizes FANI which promotes DNA interstrand
            cross-linking repair in a manner strictly dependent on its ability
            to accumulate at or near sites of DNA damage and that relies on
            mono-ubiquitylation of the FANCI-FANCD2 complex
REFERENCE   7  (bases 1 to 2864)
  AUTHORS   Smogorzewska,A., Desetty,R., Saito,T.T., Schlabach,M., Lach,F.P.,
            Sowa,M.E., Clark,A.B., Kunkel,T.A., Harper,J.W., Colaiacovo,M.P.
            and Elledge,S.J.
  TITLE     A genetic screen identifies FAN1, a Fanconi anemia-associated
            nuclease necessary for DNA interstrand crosslink repair
  JOURNAL   Mol. Cell 39 (1), 36-47 (2010)
   PUBMED   20603073
  REMARK    GeneRIF: FAN1 colocalizes at sites of DNA damage with the ID
            complex in a manner dependent on FAN1's ubiquitin-binding domain
            (UBZ), the FANCI-FAND2 (ID) complex, and monoubiquitination of
            FANCD2.
REFERENCE   8  (bases 1 to 2864)
  AUTHORS   Kratz,K., Schopf,B., Kaden,S., Sendoel,A., Eberhard,R.,
            Lademann,C., Cannavo,E., Sartori,A.A., Hengartner,M.O. and
            Jiricny,J.
  TITLE     Deficiency of FANCD2-associated nuclease KIAA1018/FAN1 sensitizes
            cells to interstrand crosslinking agents
  JOURNAL   Cell 142 (1), 77-88 (2010)
   PUBMED   20603016
  REMARK    GeneRIF: KIAA1018 is a 5'-->3' exonuclease and a structure-specific
            endonuclease that preferentially incises 5' flaps; like cells from
            FA patients, human cells depleted of KIAA1018 are sensitized to
            ICL-inducing agents and display chromosomal instability.
REFERENCE   9  (bases 1 to 2864)
  AUTHORS   MacKay,C., Declais,A.C., Lundin,C., Agostinho,A., Deans,A.J.,
            MacArtney,T.J., Hofmann,K., Gartner,A., West,S.C., Helleday,T.,
            Lilley,D.M. and Rouse,J.
  TITLE     Identification of KIAA1018/FAN1, a DNA repair nuclease recruited to
            DNA damage by monoubiquitinated FANCD2
  JOURNAL   Cell 142 (1), 65-76 (2010)
   PUBMED   20603015
  REMARK    GeneRIF: Study describes how a highly conserved protein,
            KIAA1018/MTMR15/FAN1, that interacts with, and is recruited to
            sites of DNA damage by, the monoubiquitinated form of FANCD2.
REFERENCE   10 (bases 1 to 2864)
  AUTHORS   Alonso,A., Sasin,J., Bottini,N., Friedberg,I., Friedberg,I.,
            Osterman,A., Godzik,A., Hunter,T., Dixon,J. and Mustelin,T.
  TITLE     Protein tyrosine phosphatases in the human genome
  JOURNAL   Cell 117 (6), 699-711 (2004)
   PUBMED   15186772
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA841207.1, BP310263.1,
            BX647391.1 and BC044890.1.
            
            Summary: This gene encodes a member of the myotubularin-related
            class 1 cysteine-based protein tyrosine phosphatases. The encoded
            protein may be catalytically inactive. Alternatively spliced
            transcript variants have been described. [provided by RefSeq, Apr
            2009].
            
            Transcript Variant: This variant (4) differs in the 5' UTR, 3' UTR,
            and 3' coding region, compared to variant 1. The resulting isoform
            (b) has a distinct C-terminus and is shorter than isoform a.
            Variants 2, 3 and 4 encode the same isoform (b).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BX647391.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025081, ERS025084 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-42                DA841207.1         1-42
            43-218              BP310263.1         1-176
            219-2608            BX647391.1         200-2589
            2609-2864           BC044890.1         2453-2708
FEATURES             Location/Qualifiers
     source          1..2864
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q13.2-q13.3"
     gene            1..2864
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /note="FANCD2/FANCI-associated nuclease 1"
                     /db_xref="GeneID:22909"
                     /db_xref="HGNC:29170"
                     /db_xref="MIM:613534"
     exon            1..152
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /inference="alignment:Splign:1.39.8"
     variation       104..105
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace=""
                     /replace="g"
                     /db_xref="dbSNP:34589857"
     exon            153..1538
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /inference="alignment:Splign:1.39.8"
     variation       219
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:113045164"
     misc_feature    233..235
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /note="upstream in-frame stop codon"
     variation       283
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:369326801"
     CDS             305..1906
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /EC_number="3.1.4.1"
                     /note="isoform b is encoded by transcript variant 4;
                     fanconi anemia associated nuclease 1; coiled-coil
                     domain-containing protein MTMR15; myotubularin-related
                     protein 15"
                     /codon_start=1
                     /product="fanconi-associated nuclease 1 isoform b"
                     /protein_id="NP_001139568.1"
                     /db_xref="GI:226246529"
                     /db_xref="CCDS:CCDS58344.1"
                     /db_xref="GeneID:22909"
                     /db_xref="HGNC:29170"
                     /db_xref="MIM:613534"
                     /translation="
MMSEGKPPDKKRPRRSLSISKNKKKASNSIISCFNNAPPAKLACPVCSKMVPRYDLNRHLDEMCANNDFVQVDPGQVGLINSNVSMVDLTSVTLEDVTPKKSPPPKTNLTPGQSDSAKREVKQKISPYFKSNDVVCKNQDELRNRSVKVICLGSLASKLSRKYVKAKKSIDKDEEFAGSSPQSSKSTVVKSLIDNSSEIEDEDQILENSSQKENVFKCDSLKEECIPEHMVRGSKIMEAESQKATRECEKSALTPGFSDNAIMLFSPDFTLRNTLKSTSEDSLVKQECIKEVVEKREACHCEEVKMTVASEAKIQLSDSEAKSHSSADDASAWSNIQEAPLQDDSCLNNDIPHSIPLEQGSSCNGPGQTTGHPYYLRSFLVVLKTVLENEDDMLLFDEQEKGIVTKFYQLSATGQKLYVRLFQRKLSWIKMTKLEYEEIALDLTPVIEELTNAGFLQTESELQELSEVLELLSAPELKSLAKTFHLVNPNGQKQQLVDAFLKLAKQRSVCTWGKNKPGIGAVILKRFCWLLLQ
"
     misc_feature    344..370
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y2M0.4);
                     Region: D-box"
     misc_feature    425..490
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /note="Rad18-like CCHC zinc finger; Region: ZnF_Rad18;
                     smart00734"
                     /db_xref="CDD:128973"
     misc_feature    938..946
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y2M0.4);
                     Region: KEN box"
     variation       305
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:139312614"
     variation       309
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:143294144"
     variation       314
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:369398471"
     variation       317
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:149291568"
     variation       384
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:139353520"
     variation       390
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:199574217"
     variation       411
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:146249441"
     variation       419
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:183652083"
     variation       433
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200233447"
     variation       440
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:371593413"
     variation       445
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:144469584"
     variation       453
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:148404807"
     variation       465
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:376214743"
     variation       478
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:143965941"
     variation       503
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:146522953"
     variation       522
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:201860403"
     variation       529
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:376882561"
     variation       532
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:367612076"
     variation       560
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:139988104"
     variation       593
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:375827355"
     variation       596
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:199838412"
     variation       612
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:200672666"
     variation       630
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:76725957"
     variation       633
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:151206988"
     variation       634
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:139159448"
     variation       704
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:144046046"
     variation       733
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:199537330"
     variation       738
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:146408181"
     variation       746
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:113751993"
     variation       765
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:145226318"
     variation       794
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:142350646"
     variation       801
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="c"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:146422014"
     variation       811
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:372161455"
     variation       815
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:376003074"
     variation       820
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:139019089"
     variation       835
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:201499851"
     variation       837
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:367894669"
     variation       861
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:148610242"
     variation       869
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:377089680"
     variation       877
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201722958"
     variation       894
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:376369585"
     variation       902
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:369093658"
     variation       907
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:142084532"
     variation       912
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373390525"
     variation       955
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:374878731"
     variation       959
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:143816528"
     variation       960
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:189713653"
     variation       970
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:376528017"
     variation       976
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:369869010"
     variation       989
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:148140498"
     variation       1002
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:4779794"
     variation       1005
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:17846417"
     variation       1022
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:150748572"
     variation       1035
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200798913"
     variation       1075
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:372989498"
     variation       1086
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="c"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:137920161"
     variation       1087
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:142437586"
     variation       1111
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:199810253"
     variation       1140
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:376256721"
     variation       1191
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:145950723"
     variation       1233
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:201220536"
     variation       1245
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:139809129"
     variation       1248
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:143534852"
     variation       1265
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:144577204"
     variation       1394
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:187082481"
     variation       1397
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:370459391"
     variation       1414
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:114136100"
     variation       1415
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:142597944"
     variation       1433
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:151322829"
     variation       1447
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:142470367"
     variation       1465
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:192293773"
     variation       1481
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:115139636"
     variation       1482
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:140632948"
     variation       1488
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201153099"
     variation       1498
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:141494062"
     variation       1506
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:150484853"
     exon            1539..1679
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /inference="alignment:Splign:1.39.8"
     variation       1551
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:200759965"
     variation       1568
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:374895181"
     variation       1574
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:368417113"
     variation       1575
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:138307818"
     variation       1586
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:372815502"
     variation       1614
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:79759675"
     variation       1629
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:75820658"
     variation       1637
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200504684"
     variation       1654
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:138954416"
     variation       1656
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:182455628"
     variation       1657
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:142501642"
     exon            1680..2854
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /inference="alignment:Splign:1.39.8"
     variation       1703
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:377131039"
     variation       1798
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:199855919"
     variation       1824
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:150393409"
     variation       1839
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:370973001"
     variation       1856
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:376174791"
     variation       1891
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:79802476"
     variation       1894
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:375485617"
     variation       1901
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:369935463"
     variation       1902
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:373034831"
     variation       1956
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:3794594"
     variation       2008
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:7183847"
     variation       2019..2020
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace=""
                     /replace="t"
                     /db_xref="dbSNP:374352331"
     variation       2071
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:191452532"
     variation       2130
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:3794595"
     variation       2281
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:75007462"
     variation       2296
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:183617582"
     variation       2357
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:138151213"
     variation       2442
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:61439612"
     STS             2546..2647
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /standard_name="WI-11934"
                     /db_xref="UniSTS:34421"
     variation       2618..2619
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace=""
                     /replace="at"
                     /db_xref="dbSNP:71838137"
     variation       2636..2637
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace=""
                     /replace="a"
                     /db_xref="dbSNP:34387091"
     variation       2649
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1056118"
     variation       2666
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:140369113"
     polyA_signal    2674..2679
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
     variation       2690
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:111731930"
     variation       2797
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:112451378"
     polyA_signal    2828..2833
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
     polyA_site      2854
                     /gene="FAN1"
                     /gene_synonym="KIAA1018; KMIN; MTMR15"
ORIGIN      
ggcgcgcggagccaggtgggaggtgcgaggtggccgcgcggggatcttgggtgacagggcaccgagggaaggaggacgcgagggcagccaggccctagggagcagggagagtggctcgggctcagtcgcgtggccccaggtgcgcgtcccaggaagaagaaattgtcgagacgaataacatgaggtcatatagaatcccacttttggtgatttcaagtcaagaaagtaaaagtaaaccattgctatctttcaccttaaatatcctgtgttttattgctcagaacatccagtttttctaatactcatgatgtcagaagggaaacctcctgacaaaaaaaggcctcgtagaagcttatcaatcagcaagaataagaaaaaagcatctaattctattatttcgtgttttaacaatgcaccacctgctaaacttgcctgccccgtttgcagtaaaatggtgcctagatatgacttaaaccggcaccttgatgaaatgtgtgctaacaatgacttcgttcaagtggatccagggcaggttggcttaataaattcaaatgtgtctatggtagatttaaccagtgttaccttagaagatgtaacacctaagaagtcaccaccaccaaagacaaatttaacccctggccaaagtgattcagcaaaaagggaagtaaagcagaagatcagtccctactttaaaagtaatgatgtggtgtgcaaaaatcaagatgagctgagaaatcgtagtgtgaaagtcatttgtttgggaagcctagcatctaaattgtccagaaaatacgtaaaggctaaaaaatcaatagataaggatgaagaatttgccggttctagtccacagagttccaaatccacagttgttaagagcctgattgataactcttcagaaattgaggacgaggatcaaattttggagaacagttctcaaaaagaaaacgtgtttaaatgtgattctctaaaggaagagtgcattcctgaacatatggtaagaggaagtaaaataatggaagccgaaagccaaaaggctacccgggaatgtgagaaatcagccctcacccctggattctcagataatgcgatcatgttattctcaccagatttcactcttaggaatacattaaagtctacttcagaagacagtcttgtaaagcaagagtgtatcaaagaagtggttgaaaaacgtgaggcatgtcattgtgaagaagtaaaaatgactgttgcttcagaagctaaaatacagctgtcagattcagaggcaaaatctcatagttctgcagatgatgcttctgcatggagtaacatccaagaggctcctctgcaggatgacagttgcttaaacaatgatatccctcacagcattcctttggagcaggggtcaagctgcaatggtcctggtcaaacaaccggtcatccttactaccttcggagtttccttgtggtgctgaaaaccgtacttgagaatgaagatgatatgttgctctttgatgagcaggagaagggaattgtaactaaattttatcagttatcagctactggtcagaagttatatgtaaggctctttcaacgtaaattaagctggattaagatgaccaaattagagtatgaagagattgccttagacttaacacctgtgattgaagaattgacgaatgcaggctttctacagacagaatctgagttgcaagaactctctgaagtgcttgaactcctttctgctcctgaactaaaatccctagccaagaccttccacttggtgaatcccaatggacagaaacagcagctggtggacgcctttctcaaattggccaaacagcgttcagtctgcacttggggcaagaataagcctggaattggtgcagtgattttaaaaaggttttgttggctattgttacagtaaaaacatttaaaatgttgatagcacatattaacttacagtagattgtatacttgattgaactgtaattgtttatttcagttgtagttagattgagaaggctggaaaagccttaattgcaatagcctggattctttcttgggttattattcaaaatttttgtcgtaataccgtactaatttccaggaccaagaaaaatcggaaggcaataggcctttggtaaattgtagtattttattttccgagaaaaatacagttttaagtgattcttatgggattttaaggtaaactatttagtcaaatttttattttagtttttgtttactaaacaaagtataatcaggcagtcttaatgtgcaagttttcctgagtttaaacgtaacaatttaccaaaaactgtgagtggcttcttttgtccttgagaagcccttgacctgtttcagttgaaaattacaaaaacttttagaattgatttcttttgcccatgttatttatataatcaaactatatcaactctagcctgggaattcactactgtggagtcgaggatgaaatgagaggatgcttttgaaaacactttaacatgatgttgttatttattttatatatttgttttgtatatttcagttgttatgagcccatccttgttggggaggtgctataaatactaatctttaatgaaacataggtgtaataaggcagacattaagaaaaatataaataccaacacttgaaaaaagctcgtgttatagatttttaaaaagtacttcaataaattacatacttgtaattaattgacttgagaagtatagaatcctcatctgtgtggtatgttaaatgtcttctaagtcctttctttatctaattgtatttcttaagtatttgatgttaaccttatatgtaacattttataagcaagtaaacattaaatttagccaccctctggctgggaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:22909 -> Molecular function: GO:0000287 [magnesium ion binding] evidence: TAS
            GeneID:22909 -> Molecular function: GO:0003677 [DNA binding] evidence: IEA
            GeneID:22909 -> Molecular function: GO:0004528 [phosphodiesterase I activity] evidence: IEA
            GeneID:22909 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
            GeneID:22909 -> Molecular function: GO:0008409 [5'-3' exonuclease activity] evidence: IDA
            GeneID:22909 -> Molecular function: GO:0017108 [5'-flap endonuclease activity] evidence: IDA
            GeneID:22909 -> Molecular function: GO:0043130 [ubiquitin binding] evidence: IDA
            GeneID:22909 -> Biological process: GO:0000724 [double-strand break repair via homologous recombination] evidence: IMP
            GeneID:22909 -> Biological process: GO:0006281 [DNA repair] evidence: IMP
            GeneID:22909 -> Biological process: GO:0006289 [nucleotide-excision repair] evidence: IMP
            GeneID:22909 -> Biological process: GO:0033683 [nucleotide-excision repair, DNA incision] evidence: IDA
            GeneID:22909 -> Biological process: GO:0033683 [nucleotide-excision repair, DNA incision] evidence: IMP
            GeneID:22909 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
ANNOTATIONS from NCBI Entrez Gene (20130726):
            NP_001139568 -> EC 3.1.4.1

by @meso_cacase at DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.