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2025-05-09 18:43:04, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001146094 2851 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens FANCD2/FANCI-associated nuclease 1 (FAN1), transcript
variant 2, mRNA.
ACCESSION NM_001146094
VERSION NM_001146094.1 GI:226246524
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 2851)
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 2851)
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 2851)
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 2851)
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 2851)
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 2851)
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 2851)
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 2851)
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 2851)
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 2851)
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, AK290987.1,
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 (2) differs in the 3' coding
region and 3' UTR, 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 :: AK290987.1 [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
1-20 DA841207.1 1-20
21-1245 AK290987.1 1-1225
1246-2595 BX647391.1 1240-2589
2596-2851 BC044890.1 2453-2708
FEATURES Location/Qualifiers
source 1..2851
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="15"
/map="15q13.2-q13.3"
gene 1..2851
/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..139
/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 140..1525
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/inference="alignment:Splign:1.39.8"
variation 206
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="g"
/db_xref="dbSNP:113045164"
misc_feature 220..222
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/note="upstream in-frame stop codon"
variation 270
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:369326801"
CDS 292..1893
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/EC_number="3.1.4.1"
/note="isoform b is encoded by transcript variant 2;
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_001139566.1"
/db_xref="GI:226246525"
/db_xref="CCDS:CCDS58344.1"
/db_xref="GeneID:22909"
/db_xref="HGNC:29170"
/db_xref="MIM:613534"
/translation="
MMSEGKPPDKKRPRRSLSISKNKKKASNSIISCFNNAPPAKLACPVCSKMVPRYDLNRHLDEMCANNDFVQVDPGQVGLINSNVSMVDLTSVTLEDVTPKKSPPPKTNLTPGQSDSAKREVKQKISPYFKSNDVVCKNQDELRNRSVKVICLGSLASKLSRKYVKAKKSIDKDEEFAGSSPQSSKSTVVKSLIDNSSEIEDEDQILENSSQKENVFKCDSLKEECIPEHMVRGSKIMEAESQKATRECEKSALTPGFSDNAIMLFSPDFTLRNTLKSTSEDSLVKQECIKEVVEKREACHCEEVKMTVASEAKIQLSDSEAKSHSSADDASAWSNIQEAPLQDDSCLNNDIPHSIPLEQGSSCNGPGQTTGHPYYLRSFLVVLKTVLENEDDMLLFDEQEKGIVTKFYQLSATGQKLYVRLFQRKLSWIKMTKLEYEEIALDLTPVIEELTNAGFLQTESELQELSEVLELLSAPELKSLAKTFHLVNPNGQKQQLVDAFLKLAKQRSVCTWGKNKPGIGAVILKRFCWLLLQ
"
misc_feature 331..357
/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 412..477
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/note="Rad18-like CCHC zinc finger; Region: ZnF_Rad18;
smart00734"
/db_xref="CDD:128973"
misc_feature 925..933
/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 292
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:139312614"
variation 296
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:143294144"
variation 301
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:369398471"
variation 304
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:149291568"
variation 371
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:139353520"
variation 377
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:199574217"
variation 398
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:146249441"
variation 406
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:183652083"
variation 420
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:200233447"
variation 427
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:371593413"
variation 432
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:144469584"
variation 440
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="g"
/replace="t"
/db_xref="dbSNP:148404807"
variation 452
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:376214743"
variation 465
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:143965941"
variation 490
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:146522953"
variation 509
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="c"
/db_xref="dbSNP:201860403"
variation 516
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:376882561"
variation 519
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="g"
/db_xref="dbSNP:367612076"
variation 547
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:139988104"
variation 580
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="g"
/replace="t"
/db_xref="dbSNP:375827355"
variation 583
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:199838412"
variation 599
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="c"
/db_xref="dbSNP:200672666"
variation 617
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:76725957"
variation 620
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:151206988"
variation 621
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:139159448"
variation 691
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:144046046"
variation 720
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="t"
/db_xref="dbSNP:199537330"
variation 725
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:146408181"
variation 733
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:113751993"
variation 752
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:145226318"
variation 781
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:142350646"
variation 788
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:146422014"
variation 798
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:372161455"
variation 802
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:376003074"
variation 807
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="g"
/db_xref="dbSNP:139019089"
variation 822
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="g"
/db_xref="dbSNP:201499851"
variation 824
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="g"
/replace="t"
/db_xref="dbSNP:367894669"
variation 848
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="c"
/db_xref="dbSNP:148610242"
variation 856
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:377089680"
variation 864
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:201722958"
variation 881
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:376369585"
variation 889
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="g"
/db_xref="dbSNP:369093658"
variation 894
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:142084532"
variation 899
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:373390525"
variation 942
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="t"
/db_xref="dbSNP:374878731"
variation 946
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="g"
/db_xref="dbSNP:143816528"
variation 947
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="t"
/db_xref="dbSNP:189713653"
variation 957
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:376528017"
variation 963
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:369869010"
variation 976
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:148140498"
variation 989
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:4779794"
variation 992
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:17846417"
variation 1009
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:150748572"
variation 1022
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:200798913"
variation 1062
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:372989498"
variation 1073
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:137920161"
variation 1074
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:142437586"
variation 1098
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:199810253"
variation 1127
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:376256721"
variation 1178
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:145950723"
variation 1220
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="g"
/db_xref="dbSNP:201220536"
variation 1232
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:139809129"
variation 1235
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:143534852"
variation 1252
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:144577204"
variation 1381
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="c"
/db_xref="dbSNP:187082481"
variation 1384
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="g"
/replace="t"
/db_xref="dbSNP:370459391"
variation 1401
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:114136100"
variation 1402
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:142597944"
variation 1420
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:151322829"
variation 1434
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:142470367"
variation 1452
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="t"
/db_xref="dbSNP:192293773"
variation 1468
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:115139636"
variation 1469
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:140632948"
variation 1475
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:201153099"
variation 1485
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:141494062"
variation 1493
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="c"
/db_xref="dbSNP:150484853"
exon 1526..1666
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/inference="alignment:Splign:1.39.8"
variation 1538
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="c"
/db_xref="dbSNP:200759965"
variation 1555
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="t"
/db_xref="dbSNP:374895181"
variation 1561
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:368417113"
variation 1562
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:138307818"
variation 1573
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="t"
/db_xref="dbSNP:372815502"
variation 1601
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:79759675"
variation 1616
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="t"
/db_xref="dbSNP:75820658"
variation 1624
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:200504684"
variation 1641
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:138954416"
variation 1643
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="c"
/db_xref="dbSNP:182455628"
variation 1644
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:142501642"
exon 1667..2841
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/inference="alignment:Splign:1.39.8"
variation 1690
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:377131039"
variation 1785
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:199855919"
variation 1811
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:150393409"
variation 1826
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="g"
/db_xref="dbSNP:370973001"
variation 1843
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="g"
/db_xref="dbSNP:376174791"
variation 1878
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="g"
/replace="t"
/db_xref="dbSNP:79802476"
variation 1881
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:375485617"
variation 1888
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:369935463"
variation 1889
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="c"
/db_xref="dbSNP:373034831"
variation 1943
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:3794594"
variation 1995
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:7183847"
variation 2006..2007
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace=""
/replace="t"
/db_xref="dbSNP:374352331"
variation 2058
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:191452532"
variation 2117
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:3794595"
variation 2268
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:75007462"
variation 2283
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:183617582"
variation 2344
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:138151213"
variation 2429
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:61439612"
STS 2533..2634
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/standard_name="WI-11934"
/db_xref="UniSTS:34421"
variation 2605..2606
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace=""
/replace="at"
/db_xref="dbSNP:71838137"
variation 2623..2624
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace=""
/replace="a"
/db_xref="dbSNP:34387091"
variation 2636
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:1056118"
variation 2653
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:140369113"
polyA_signal 2661..2666
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
variation 2677
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="a"
/replace="g"
/db_xref="dbSNP:111731930"
variation 2784
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
/replace="c"
/replace="t"
/db_xref="dbSNP:112451378"
polyA_signal 2815..2820
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
polyA_site 2841
/gene="FAN1"
/gene_synonym="KIAA1018; KMIN; MTMR15"
ORIGIN
ggcgcgcggagccaggtgggaggtgcgaggtggccgcgcggggatcttgggtgacagggcaccgagggaaggaggacgcgagggcagccaggccctagggagcagggagagtggctcgggctcagtcgcgtggccccaggaagaagaaattgtcgagacgaataacatgaggtcatatagaatcccacttttggtgatttcaagtcaagaaagtaaaagtaaaccattgctatctttcaccttaaatatcctgtgttttattgctcagaacatccagtttttctaatactcatgatgtcagaagggaaacctcctgacaaaaaaaggcctcgtagaagcttatcaatcagcaagaataagaaaaaagcatctaattctattatttcgtgttttaacaatgcaccacctgctaaacttgcctgccccgtttgcagtaaaatggtgcctagatatgacttaaaccggcaccttgatgaaatgtgtgctaacaatgacttcgttcaagtggatccagggcaggttggcttaataaattcaaatgtgtctatggtagatttaaccagtgttaccttagaagatgtaacacctaagaagtcaccaccaccaaagacaaatttaacccctggccaaagtgattcagcaaaaagggaagtaaagcagaagatcagtccctactttaaaagtaatgatgtggtgtgcaaaaatcaagatgagctgagaaatcgtagtgtgaaagtcatttgtttgggaagcctagcatctaaattgtccagaaaatacgtaaaggctaaaaaatcaatagataaggatgaagaatttgccggttctagtccacagagttccaaatccacagttgttaagagcctgattgataactcttcagaaattgaggacgaggatcaaattttggagaacagttctcaaaaagaaaacgtgtttaaatgtgattctctaaaggaagagtgcattcctgaacatatggtaagaggaagtaaaataatggaagccgaaagccaaaaggctacccgggaatgtgagaaatcagccctcacccctggattctcagataatgcgatcatgttattctcaccagatttcactcttaggaatacattaaagtctacttcagaagacagtcttgtaaagcaagagtgtatcaaagaagtggttgaaaaacgtgaggcatgtcattgtgaagaagtaaaaatgactgttgcttcagaagctaaaatacagctgtcagattcagaggcaaaatctcatagttctgcagatgatgcttctgcatggagtaacatccaagaggctcctctgcaggatgacagttgcttaaacaatgatatccctcacagcattcctttggagcaggggtcaagctgcaatggtcctggtcaaacaaccggtcatccttactaccttcggagtttccttgtggtgctgaaaaccgtacttgagaatgaagatgatatgttgctctttgatgagcaggagaagggaattgtaactaaattttatcagttatcagctactggtcagaagttatatgtaaggctctttcaacgtaaattaagctggattaagatgaccaaattagagtatgaagagattgccttagacttaacacctgtgattgaagaattgacgaatgcaggctttctacagacagaatctgagttgcaagaactctctgaagtgcttgaactcctttctgctcctgaactaaaatccctagccaagaccttccacttggtgaatcccaatggacagaaacagcagctggtggacgcctttctcaaattggccaaacagcgttcagtctgcacttggggcaagaataagcctggaattggtgcagtgattttaaaaaggttttgttggctattgttacagtaaaaacatttaaaatgttgatagcacatattaacttacagtagattgtatacttgattgaactgtaattgtttatttcagttgtagttagattgagaaggctggaaaagccttaattgcaatagcctggattctttcttgggttattattcaaaatttttgtcgtaataccgtactaatttccaggaccaagaaaaatcggaaggcaataggcctttggtaaattgtagtattttattttccgagaaaaatacagttttaagtgattcttatgggattttaaggtaaactatttagtcaaatttttattttagtttttgtttactaaacaaagtataatcaggcagtcttaatgtgcaagttttcctgagtttaaacgtaacaatttaccaaaaactgtgagtggcttcttttgtccttgagaagcccttgacctgtttcagttgaaaattacaaaaacttttagaattgatttcttttgcccatgttatttatataatcaaactatatcaactctagcctgggaattcactactgtggagtcgaggatgaaatgagaggatgcttttgaaaacactttaacatgatgttgttatttattttatatatttgttttgtatatttcagttgttatgagcccatccttgttggggaggtgctataaatactaatctttaatgaaacataggtgtaataaggcagacattaagaaaaatataaataccaacacttgaaaaaagctcgtgttatagatttttaaaaagtacttcaataaattacatacttgtaattaattgacttgagaagtatagaatcctcatctgtgtggtatgttaaatgtcttctaagtcctttctttatctaattgtatttcttaagtatttgatgttaaccttatatgtaacattttataagcaagtaaacattaaatttagccaccctctggctgggaaaaaaaaaa
//
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_001139566 -> EC 3.1.4.1
by
@meso_cacase at
DBCLS
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