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2025-05-09 18:42:13, 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 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
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