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2024-04-26 21:32:08, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_007300               7287 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens breast cancer 1, early onset (BRCA1), transcript
            variant 2, mRNA.
ACCESSION   NM_007300
VERSION     NM_007300.3  GI:237681118
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 7287)
  AUTHORS   Orban,T.I. and Olah,E.
  TITLE     Emerging roles of BRCA1 alternative splicing
  JOURNAL   MP, Mol. Pathol. 56 (4), 191-197 (2003)
   PUBMED   12890739
  REMARK    Review article
REFERENCE   2  (bases 1 to 7287)
  AUTHORS   Orban,T.I. and Olah,E.
  TITLE     Expression profiles of BRCA1 splice variants in asynchronous and in
            G1/S synchronized tumor cell lines
  JOURNAL   Biochem. Biophys. Res. Commun. 280 (1), 32-38 (2001)
   PUBMED   11162473
REFERENCE   3  (bases 1 to 7287)
  AUTHORS   Paterson,J.W.
  TITLE     BRCA1: a review of structure and putative functions
  JOURNAL   Dis. Markers 13 (4), 261-274 (1998)
   PUBMED   9553742
  REMARK    Review article
REFERENCE   4  (bases 1 to 7287)
  AUTHORS   Xu,C.F., Chambers,J.A., Nicolai,H., Brown,M.A., Hujeirat,Y.,
            Mohammed,S., Hodgson,S., Kelsell,D.P., Spurr,N.K., Bishop,D.T. and
            Solomon,E.
  TITLE     Mutations and alternative splicing of the BRCA1 gene in UK
            breast/ovarian cancer families
  JOURNAL   Genes Chromosomes Cancer 18 (2), 102-110 (1997)
   PUBMED   9115959
REFERENCE   5  (bases 1 to 7287)
  AUTHORS   Wilson,C.A., Payton,M.N., Elliott,G.S., Buaas,F.W., Cajulis,E.E.,
            Grosshans,D., Ramos,L., Reese,D.M., Slamon,D.J. and Calzone,F.J.
  TITLE     Differential subcellular localization, expression and biological
            toxicity of BRCA1 and the splice variant BRCA1-delta11b
  JOURNAL   Oncogene 14 (1), 1-16 (1997)
   PUBMED   9010228
REFERENCE   6  (bases 1 to 7287)
  AUTHORS   Thakur,S., Zhang,H.B., Peng,Y., Le,H., Carroll,B., Ward,T., Yao,J.,
            Farid,L.M., Couch,F.J., Wilson,R.B. and Weber,B.L.
  TITLE     Localization of BRCA1 and a splice variant identifies the nuclear
            localization signal
  JOURNAL   Mol. Cell. Biol. 17 (1), 444-452 (1997)
   PUBMED   8972225
REFERENCE   7  (bases 1 to 7287)
  AUTHORS   Lu,M., Conzen,S.D., Cole,C.N. and Arrick,B.A.
  TITLE     Characterization of functional messenger RNA splice variants of
            BRCA1 expressed in nonmalignant and tumor-derived breast cells
  JOURNAL   Cancer Res. 56 (20), 4578-4581 (1996)
   PUBMED   8840964
REFERENCE   8  (bases 1 to 7287)
  AUTHORS   Holt,J.T., Thompson,M.E., Szabo,C., Robinson-Benion,C.,
            Arteaga,C.L., King,M.C. and Jensen,R.A.
  TITLE     Growth retardation and tumour inhibition by BRCA1
  JOURNAL   Nat. Genet. 12 (3), 298-302 (1996)
   PUBMED   8589721
  REMARK    Erratum:[Nat Genet 1998 May;19(1):102]
REFERENCE   9  (bases 1 to 7287)
  AUTHORS   Xu,C.F., Brown,M.A., Chambers,J.A., Griffiths,B., Nicolai,H. and
            Solomon,E.
  TITLE     Distinct transcription start sites generate two forms of BRCA1 mRNA
  JOURNAL   Hum. Mol. Genet. 4 (12), 2259-2264 (1995)
   PUBMED   8634696
REFERENCE   10 (bases 1 to 7287)
  AUTHORS   Miki,Y., Swensen,J., Shattuck-Eidens,D., Futreal,P.A., Harshman,K.,
            Tavtigian,S., Liu,Q., Cochran,C., Bennett,L.M., Ding,W. et al.
  TITLE     A strong candidate for the breast and ovarian cancer susceptibility
            gene BRCA1
  JOURNAL   Science 266 (5182), 66-71 (1994)
   PUBMED   7545954
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL701927.1, BC115037.1,
            U14680.1, AC135721.4, BC072418.1, BU617173.1 and BU679389.1.
            On May 16, 2009 this sequence version replaced gi:63252877.
            
            Summary: This gene encodes a nuclear phosphoprotein that plays a
            role in maintaining genomic stability, and it also acts as a tumor
            suppressor. The encoded protein combines with other tumor
            suppressors, DNA damage sensors, and signal transducers to form a
            large multi-subunit protein complex known as the BRCA1-associated
            genome surveillance complex (BASC). This gene product associates
            with RNA polymerase II, and through the C-terminal domain, also
            interacts with histone deacetylase complexes. This protein thus
            plays a role in transcription, DNA repair of double-stranded
            breaks, and recombination. Mutations in this gene are responsible
            for approximately 40% of inherited breast cancers and more than 80%
            of inherited breast and ovarian cancers. Alternative splicing plays
            a role in modulating the subcellular localization and physiological
            function of this gene. Many alternatively spliced transcript
            variants, some of which are disease-associated mutations, have been
            described for this gene, but the full-length natures of only some
            of these variants has been described. A related pseudogene, which
            is also located on chromosome 17, has been identified. [provided by
            RefSeq, May 2009].
            
            Transcript Variant: This variant (2) includes an alternate in-frame
            exon and an alternate in-frame splice site in the central coding
            region, compared to variant 1. The encoded isoform (2) is longer
            than isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC115037.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           ERS025084, ERS025088 [ECO:0000350]
            ##Evidence-Data-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-110               AL701927.1         1-110
            111-1807            BC115037.1         16-1712
            1808-3780           U14680.1           1695-3667
            3781-4539           BC115037.1         3686-4444
            4540-4540           U14680.1           4427-4427
            4541-4612           BC115037.1         4446-4517
            4613-4613           AC135721.4         80044-80044
            4614-4874           BC115037.1         4519-4779
            4875-5887           U14680.1           4699-5711
            5888-6636           BC072418.1         2401-3149
            6637-7268           BU617173.1         19-650              c
            7269-7287           BU679389.1         1-19                c
FEATURES             Location/Qualifiers
     source          1..7287
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21"
     gene            1..7287
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /note="breast cancer 1, early onset"
                     /db_xref="GeneID:672"
                     /db_xref="HGNC:1100"
                     /db_xref="MIM:113705"
     exon            1..213
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /inference="alignment:Splign:1.39.8"
     variation       87
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /replace=""
                     /replace="t"
                     /db_xref="dbSNP:8176075"
     misc_feature    93
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /note="alternative transcription start site"
     STS             184..1651
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /db_xref="UniSTS:482866"
     misc_feature    209..211
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /note="upstream in-frame stop codon"
     exon            214..312
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /inference="alignment:Splign:1.39.8"
     CDS             233..5887
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /note="isoform 2 is encoded by transcript variant 2;
                     BRCA1/BRCA2-containing complex, subunit 1; RING finger
                     protein 53; breast cancer type 1 susceptibility protein;
                     breast and ovarian cancer susceptibility protein 1;
                     protein phosphatase 1, regulatory subunit 53; breast and
                     ovarian cancer sususceptibility protein 1"
                     /codon_start=1
                     /product="breast cancer type 1 susceptibility protein
                     isoform 2"
                     /protein_id="NP_009231.2"
                     /db_xref="GI:237681119"
                     /db_xref="CCDS:CCDS11456.2"
                     /db_xref="GeneID:672"
                     /db_xref="HGNC:1100"
                     /db_xref="MIM:113705"
                     /translation="
MDLSALRVEEVQNVINAMQKILECPICLELIKEPVSTKCDHIFCKFCMLKLLNQKKGPSQCPLCKNDITKRSLQESTRFSQLVEELLKIICAFQLDTGLEYANSYNFAKKENNSPEHLKDEVSIIQSMGYRNRAKRLLQSEPENPSLQETSLSVQLSNLGTVRTLRTKQRIQPQKTSVYIELGSDSSEDTVNKATYCSVGDQELLQITPQGTRDEISLDSAKKAACEFSETDVTNTEHHQPSNNDLNTTEKRAAERHPEKYQGSSVSNLHVEPCGTNTHASSLQHENSSLLLTKDRMNVEKAEFCNKSKQPGLARSQHNRWAGSKETCNDRRTPSTEKKVDLNADPLCERKEWNKQKLPCSENPRDTEDVPWITLNSSIQKVNEWFSRSDELLGSDDSHDGESESNAKVADVLDVLNEVDEYSGSSEKIDLLASDPHEALICKSERVHSKSVESNIEDKIFGKTYRKKASLPNLSHVTENLIIGAFVTEPQIIQERPLTNKLKRKRRPTSGLHPEDFIKKADLAVQKTPEMINQGTNQTEQNGQVMNITNSGHENKTKGDSIQNEKNPNPIESLEKESAFKTKAEPISSSISNMELELNIHNSKAPKKNRLRRKSSTRHIHALELVVSRNLSPPNCTELQIDSCSSSEEIKKKKYNQMPVRHSRNLQLMEGKEPATGAKKSNKPNEQTSKRHDSDTFPELKLTNAPGSFTKCSNTSELKEFVNPSLPREEKEEKLETVKVSNNAEDPKDLMLSGERVLQTERSVESSSISLVPGTDYGTQESISLLEVSTLGKAKTEPNKCVSQCAAFENPKGLIHGCSKDNRNDTEGFKYPLGHEVNHSRETSIEMEESELDAQYLQNTFKVSKRQSFAPFSNPGNAEEECATFSAHSGSLKKQSPKVTFECEQKEENQGKNESNIKPVQTVNITAGFPVVGQKDKPVDNAKCSIKGGSRFCLSSQFRGNETGLITPNKHGLLQNPYRIPPLFPIKSFVKTKCKKNLLEENFEEHSMSPEREMGNENIPSTVSTISRNNIRENVFKEASSSNINEVGSSTNEVGSSINEIGSSDENIQAELGRNRGPKLNAMLRLGVLQPEVYKQSLPGSNCKHPEIKKQEYEEVVQTVNTDFSPYLISDNLEQPMGSSHASQVCSETPDDLLDDGEIKEDTSFAENDIKESSAVFSKSVQKGELSRSPSPFTHTHLAQGYRRGAKKLESSEENLSSEDEELPCFQHLLFGKVNNIPSQSTRHSTVATECLSKNTEENLLSLKNSLNDCSNQVILAKASQEHHLSEETKCSASLFSSQCSELEDLTANTNTQDPFLIGSSKQMRHQSESQGVGLSDKELVSDDEERGTGLEENNQEEQSMDSNLGEAASGCESETSVSEDCSGLSSQSDILTTQQRDTMQHNLIKLQQEMAELEAVLEQHGSQPSNSYPSIISDSSALEDLRNPEQSTSEKDSHIHGQRNNSMFSKRPREHISVLTSQKSSEYPISQNPEGLSADKFEVSADSSTSKNKEPGVERSSPSKCPSLDDRWYMHSCSGSLQNRNYPSQEELIKVVDVEEQQLEESGPHDLTETSYLPRQDLEGTPYLESGISLFSDDPESDPSEDRAPESARVGNIPSSTSALKVPQLKVAESAQSPAAAHTTDTAGYNAMEESVSREKPELTASTERVNKRMSMVVSGLTPEEFMLVYKFARKHHITLTNLITEETTHVVMKTDAEFVCERTLKYFLGIAGGKWVVSYFWVTQSIKERKMLNEHDFEVRGDVVNGRNHQGPKRARESQDRKIFRGLEICCYGPFTNMPTDQLEWMVQLCGASVVKELSSFTLGTGVHPIVVVQPDAWTEDNGFHAIGQMCEAPVVTREWVLDSVALYQCQELDTYLIPQIPHSHY
"
     misc_feature    290..427
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /note="Zinc finger, C3HC4 type (RING finger); Region:
                     zf-C3HC4_2; pfam13923"
                     /db_xref="CDD:206094"
     misc_feature    299..436
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /note="RING-finger (Really Interesting New Gene) domain, a
                     specialized type of Zn-finger of 40 to 60 residues that
                     binds two atoms of zinc; defined by the 'cross-brace'
                     motif C-X2-C-X(9-39)-C-X(1-3)-
                     H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved
                     in...; Region: RING; cd00162"
                     /db_xref="CDD:29102"
     misc_feature    order(302..304,311..313,347..349,353..355,362..364,
                     371..373,413..415,422..424)
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /note="cross-brace motif; other site"
                     /db_xref="CDD:29102"
     misc_feature    572..574
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (P38398.2); phosphorylation site"
     misc_feature    1154..1156
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine, by AURKA; propagated from
                     UniProtKB/Swiss-Prot (P38398.2); phosphorylation site"
     misc_feature    1262..1753
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /note="Serine-rich domain associated with BRCT; Region:
                     BRCT_assoc; pfam12820"
                     /db_xref="CDD:193295"
     misc_feature    1415..1417
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (P38398.2); phosphorylation site"
     misc_feature    1424..1426
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (P38398.2); phosphorylation site"
     misc_feature    1499..1501
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (P38398.2); phosphorylation site"
     misc_feature    2195..3166
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /note="Ethylene insensitive 3; Region: EIN3; pfam04873"
                     /db_xref="CDD:191117"
     misc_feature    2312..2314
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (P38398.2); phosphorylation site"
     misc_feature    2489..2491
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (P38398.2); phosphorylation site"
     misc_feature    3194..3196
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine, by CHEK2; propagated from
                     UniProtKB/Swiss-Prot (P38398.2); phosphorylation site"
     misc_feature    3659..3661
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine, by ATR, in vitro; propagated from
                     UniProtKB/Swiss-Prot (P38398.2); phosphorylation site"
     misc_feature    3863..3865
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (P38398.2); phosphorylation site"
     misc_feature    3881..3883
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (P38398.2); phosphorylation site"
     misc_feature    3884..3886
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (P38398.2); phosphorylation site"
     misc_feature    4070..4072
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine, by ATR, in vitro; propagated from
                     UniProtKB/Swiss-Prot (P38398.2); phosphorylation site"
     misc_feature    4214..4216
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (P38398.2); phosphorylation site"
     misc_feature    4238..4240
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (P38398.2); phosphorylation site"
     misc_feature    4256..4258
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (P38398.2); phosphorylation site"
     misc_feature    4391..4393
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine, by ATM and ATR; propagated from
                     UniProtKB/Swiss-Prot (P38398.2); phosphorylation site"
     misc_feature    4412..4414
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphothreonine, by ATR, in vitro; propagated from
                     UniProtKB/Swiss-Prot (P38398.2); phosphorylation site"
     misc_feature    4421..4504
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (P38398.2);
                     Region: Interaction with PALB2"
     misc_feature    4499..4501
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine, by ATM and ATR; propagated from
                     UniProtKB/Swiss-Prot (P38398.2); phosphorylation site"
     misc_feature    4664..4666
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine, by ATR, in vitro; propagated from
                     UniProtKB/Swiss-Prot (P38398.2); phosphorylation site"
     misc_feature    4865..4867
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine, by ATM; propagated from
                     UniProtKB/Swiss-Prot (P38398.2); phosphorylation site"
     misc_feature    5582..5821
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /note="Breast Cancer Suppressor Protein (BRCA1),
                     carboxy-terminal domain. The BRCT domain is found within
                     many DNA damage repair and cell cycle checkpoint proteins.
                     The unique diversity of this domain superfamily allows
                     BRCT modules to interact forming homo...; Region: BRCT;
                     cd00027"
                     /db_xref="CDD:28909"
     misc_feature    order(5627..5629,5639..5641,5648..5650,5657..5659,
                     5663..5665)
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /note="Dimer interface [polypeptide binding]; other site"
                     /db_xref="CDD:28909"
     misc_feature    order(5804..5806,5816..5818)
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /note="BRCT sequence motif; other site"
                     /db_xref="CDD:28909"
     exon            313..366
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /inference="alignment:Splign:1.39.8"
     exon            367..444
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /inference="alignment:Splign:1.39.8"
     exon            445..533
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /inference="alignment:Splign:1.39.8"
     exon            534..673
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /inference="alignment:Splign:1.39.8"
     exon            674..779
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /inference="alignment:Splign:1.39.8"
     variation       686
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:41286288"
     variation       710
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:62625285"
     variation       760
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:34545365"
     exon            780..825
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /inference="alignment:Splign:1.39.8"
     exon            826..902
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /inference="alignment:Splign:1.39.8"
     exon            903..4328
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /inference="alignment:Splign:1.39.8"
     STS             909..1077
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /standard_name="GDB:454227"
                     /db_xref="UniSTS:157424"
     variation       925
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:62625298"
     variation       949
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:56310439"
     STS             996..1234
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /standard_name="GDB:454278"
                     /db_xref="UniSTS:157425"
     variation       997
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:62625299"
     variation       1154
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:55767801"
     STS             1159..1436
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /standard_name="GDB:454349"
                     /db_xref="UniSTS:157426"
     variation       1201
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:45586033"
     variation       1247
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:55842957"
     STS             1299..1543
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /standard_name="GDB:454353"
                     /db_xref="UniSTS:157427"
     STS             1465..1730
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /standard_name="GDB:454372"
                     /db_xref="UniSTS:157428"
     STS             1685..1947
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /standard_name="GDB:454381"
                     /db_xref="UniSTS:157429"
     variation       1773
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:56100707"
     STS             1844..2087
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /standard_name="GDB:454417"
                     /db_xref="UniSTS:157430"
     variation       1963
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:28897678"
     STS             2031..2329
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /standard_name="GDB:454421"
                     /db_xref="UniSTS:157431"
     variation       2081
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:45564238"
     variation       2110
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:8176154"
     variation       2204
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:55932871"
     STS             2255..2510
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /standard_name="GDB:454425"
                     /db_xref="UniSTS:157432"
     STS             2394..2617
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /standard_name="GDB:454429"
                     /db_xref="UniSTS:157433"
     STS             2561..2830
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /standard_name="GDB:454433"
                     /db_xref="UniSTS:157434"
     variation       2721..2722
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /replace=""
                     /replace="aa"
                     /db_xref="dbSNP:273899685"
     STS             2748..3061
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /standard_name="GDB:454437"
                     /db_xref="UniSTS:157435"
     variation       2757
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:28897684"
     variation       2763
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:56051266"
     STS             2774..3016
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /standard_name="PMC13918P1"
                     /db_xref="UniSTS:270877"
     STS             3013..3318
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /standard_name="GDB:454441"
                     /db_xref="UniSTS:157436"
     variation       3198
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:4986848"
     STS             3284..3661
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /standard_name="GDB:454446"
                     /db_xref="UniSTS:157437"
     variation       3443
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:41293445"
     STS             3526..3850
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /standard_name="GDB:454450"
                     /db_xref="UniSTS:157438"
     variation       3548
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:45599040"
     STS             3796..4084
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /standard_name="BRCA1"
                     /db_xref="UniSTS:262743"
     STS             3799..4072
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /standard_name="GDB:454454"
                     /db_xref="UniSTS:157439"
     STS             3808..4067
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /standard_name="PMC310899P3"
                     /db_xref="UniSTS:272805"
     variation       3816
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:28897685"
     STS             3901..4196
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /standard_name="G60034"
                     /db_xref="UniSTS:137300"
     STS             3909..4067
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /standard_name="PMC310899P2"
                     /db_xref="UniSTS:272804"
     STS             3973..4181
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /standard_name="GDB:454458"
                     /db_xref="UniSTS:157440"
     STS             4109..4326
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /standard_name="GDB:454462"
                     /db_xref="UniSTS:157441"
     variation       4225
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:70953658"
     exon            4329..4417
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /inference="alignment:Splign:1.39.8"
     exon            4418..4589
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /inference="alignment:Splign:1.39.8"
     variation       4450
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:1800707"
     exon            4590..4655
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /inference="alignment:Splign:1.39.8"
     exon            4656..4779
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /inference="alignment:Splign:1.39.8"
     variation       4766
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:111034213"
     exon            4780..4970
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /inference="alignment:Splign:1.39.8"
     variation       4800
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:56335406"
     variation       4905
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:70953659"
     variation       4939
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:28897692"
     exon            4971..5281
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /inference="alignment:Splign:1.39.8"
     variation       4978
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:55688400"
     variation       5153
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:8176219"
     variation       5167
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:11555992"
     variation       5232
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:28897694"
     exon            5282..5369
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /inference="alignment:Splign:1.39.8"
     exon            5370..5447
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /inference="alignment:Splign:1.39.8"
     variation       5395
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:45519437"
     exon            5448..5488
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /inference="alignment:Splign:1.39.8"
     variation       5452
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:28897697"
     exon            5489..5572
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /inference="alignment:Splign:1.39.8"
     exon            5573..5627
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /inference="alignment:Splign:1.39.8"
     variation       5621
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1800757"
     exon            5628..5701
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /inference="alignment:Splign:1.39.8"
     exon            5702..5762
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /inference="alignment:Splign:1.39.8"
     variation       5728
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:4438367"
     exon            5763..7270
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /inference="alignment:Splign:1.39.8"
     variation       5766
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:70953662"
     STS             5809..5944
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /standard_name="PMC310899P11"
                     /db_xref="UniSTS:272801"
     variation       5866
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:28897699"
     variation       5929
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:273902777"
     STS             5935..6172
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /standard_name="RH79896"
                     /db_xref="UniSTS:90392"
     variation       6159
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:8176317"
     variation       6308
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:8176318"
     STS             6437..7266
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /standard_name="BRCA1_4046"
                     /db_xref="UniSTS:464465"
     STS             6617..6696
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /standard_name="D5S1597E"
                     /db_xref="UniSTS:151019"
     variation       6668
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:8176319"
     variation       6781
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1060920"
     variation       6787
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:1060921"
     variation       7174
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:12516"
     variation       7219
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:8176320"
     polyA_signal    7245..7250
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
     polyA_site      7270
                     /gene="BRCA1"
                     /gene_synonym="BRCAI; BRCC1; BROVCA1; IRIS; PNCA4;
                     PPP1R53; PSCP; RNF53"
ORIGIN      
gtaccttgatttcgtattctgagaggctgctgcttagcggtagccccttggtttccgtggcaacggaaaagcgcgggaattacagataaattaaaactgcgactgcgcggcgtgagctcgctgagacttcctggacgggggacaggctgtggggtttctcagataactgggcccctgcgctcaggaggccttcaccctctgctctgggtaaagttcattggaacagaaagaaatggatttatctgctcttcgcgttgaagaagtacaaaatgtcattaatgctatgcagaaaatcttagagtgtcccatctgtctggagttgatcaaggaacctgtctccacaaagtgtgaccacatattttgcaaattttgcatgctgaaacttctcaaccagaagaaagggccttcacagtgtcctttatgtaagaatgatataaccaaaaggagcctacaagaaagtacgagatttagtcaacttgttgaagagctattgaaaatcatttgtgcttttcagcttgacacaggtttggagtatgcaaacagctataattttgcaaaaaaggaaaataactctcctgaacatctaaaagatgaagtttctatcatccaaagtatgggctacagaaaccgtgccaaaagacttctacagagtgaacccgaaaatccttccttgcaggaaaccagtctcagtgtccaactctctaaccttggaactgtgagaactctgaggacaaagcagcggatacaacctcaaaagacgtctgtctacattgaattgggatctgattcttctgaagataccgttaataaggcaacttattgcagtgtgggagatcaagaattgttacaaatcacccctcaaggaaccagggatgaaatcagtttggattctgcaaaaaaggctgcttgtgaattttctgagacggatgtaacaaatactgaacatcatcaacccagtaataatgatttgaacaccactgagaagcgtgcagctgagaggcatccagaaaagtatcagggtagttctgtttcaaacttgcatgtggagccatgtggcacaaatactcatgccagctcattacagcatgagaacagcagtttattactcactaaagacagaatgaatgtagaaaaggctgaattctgtaataaaagcaaacagcctggcttagcaaggagccaacataacagatgggctggaagtaaggaaacatgtaatgataggcggactcccagcacagaaaaaaaggtagatctgaatgctgatcccctgtgtgagagaaaagaatggaataagcagaaactgccatgctcagagaatcctagagatactgaagatgttccttggataacactaaatagcagcattcagaaagttaatgagtggttttccagaagtgatgaactgttaggttctgatgactcacatgatggggagtctgaatcaaatgccaaagtagctgatgtattggacgttctaaatgaggtagatgaatattctggttcttcagagaaaatagacttactggccagtgatcctcatgaggctttaatatgtaaaagtgaaagagttcactccaaatcagtagagagtaatattgaagacaaaatatttgggaaaacctatcggaagaaggcaagcctccccaacttaagccatgtaactgaaaatctaattataggagcatttgttactgagccacagataatacaagagcgtcccctcacaaataaattaaagcgtaaaaggagacctacatcaggccttcatcctgaggattttatcaagaaagcagatttggcagttcaaaagactcctgaaatgataaatcagggaactaaccaaacggagcagaatggtcaagtgatgaatattactaatagtggtcatgagaataaaacaaaaggtgattctattcagaatgagaaaaatcctaacccaatagaatcactcgaaaaagaatctgctttcaaaacgaaagctgaacctataagcagcagtataagcaatatggaactcgaattaaatatccacaattcaaaagcacctaaaaagaataggctgaggaggaagtcttctaccaggcatattcatgcgcttgaactagtagtcagtagaaatctaagcccacctaattgtactgaattgcaaattgatagttgttctagcagtgaagagataaagaaaaaaaagtacaaccaaatgccagtcaggcacagcagaaacctacaactcatggaaggtaaagaacctgcaactggagccaagaagagtaacaagccaaatgaacagacaagtaaaagacatgacagcgatactttcccagagctgaagttaacaaatgcacctggttcttttactaagtgttcaaataccagtgaacttaaagaatttgtcaatcctagccttccaagagaagaaaaagaagagaaactagaaacagttaaagtgtctaataatgctgaagaccccaaagatctcatgttaagtggagaaagggttttgcaaactgaaagatctgtagagagtagcagtatttcattggtacctggtactgattatggcactcaggaaagtatctcgttactggaagttagcactctagggaaggcaaaaacagaaccaaataaatgtgtgagtcagtgtgcagcatttgaaaaccccaagggactaattcatggttgttccaaagataatagaaatgacacagaaggctttaagtatccattgggacatgaagttaaccacagtcgggaaacaagcatagaaatggaagaaagtgaacttgatgctcagtatttgcagaatacattcaaggtttcaaagcgccagtcatttgctccgttttcaaatccaggaaatgcagaagaggaatgtgcaacattctctgcccactctgggtccttaaagaaacaaagtccaaaagtcacttttgaatgtgaacaaaaggaagaaaatcaaggaaagaatgagtctaatatcaagcctgtacagacagttaatatcactgcaggctttcctgtggttggtcagaaagataagccagttgataatgccaaatgtagtatcaaaggaggctctaggttttgtctatcatctcagttcagaggcaacgaaactggactcattactccaaataaacatggacttttacaaaacccatatcgtataccaccactttttcccatcaagtcatttgttaaaactaaatgtaagaaaaatctgctagaggaaaactttgaggaacattcaatgtcacctgaaagagaaatgggaaatgagaacattccaagtacagtgagcacaattagccgtaataacattagagaaaatgtttttaaagaagccagctcaagcaatattaatgaagtaggttccagtactaatgaagtgggctccagtattaatgaaataggttccagtgatgaaaacattcaagcagaactaggtagaaacagagggccaaaattgaatgctatgcttagattaggggttttgcaacctgaggtctataaacaaagtcttcctggaagtaattgtaagcatcctgaaataaaaaagcaagaatatgaagaagtagttcagactgttaatacagatttctctccatatctgatttcagataacttagaacagcctatgggaagtagtcatgcatctcaggtttgttctgagacacctgatgacctgttagatgatggtgaaataaaggaagatactagttttgctgaaaatgacattaaggaaagttctgctgtttttagcaaaagcgtccagaaaggagagcttagcaggagtcctagccctttcacccatacacatttggctcagggttaccgaagaggggccaagaaattagagtcctcagaagagaacttatctagtgaggatgaagagcttccctgcttccaacacttgttatttggtaaagtaaacaatataccttctcagtctactaggcatagcaccgttgctaccgagtgtctgtctaagaacacagaggagaatttattatcattgaagaatagcttaaatgactgcagtaaccaggtaatattggcaaaggcatctcaggaacatcaccttagtgaggaaacaaaatgttctgctagcttgttttcttcacagtgcagtgaattggaagacttgactgcaaatacaaacacccaggatcctttcttgattggttcttccaaacaaatgaggcatcagtctgaaagccagggagttggtctgagtgacaaggaattggtttcagatgatgaagaaagaggaacgggcttggaagaaaataatcaagaagagcaaagcatggattcaaacttaggtgaagcagcatctgggtgtgagagtgaaacaagcgtctctgaagactgctcagggctatcctctcagagtgacattttaaccactcagcagagggataccatgcaacataacctgataaagctccagcaggaaatggctgaactagaagctgtgttagaacagcatgggagccagccttctaacagctacccttccatcataagtgactcttctgcccttgaggacctgcgaaatccagaacaaagcacatcagaaaaagattcgcatatacatggccaaaggaacaactccatgttttctaaaaggcctagagaacatatatcagtattaacttcacagaaaagtagtgaataccctataagccagaatccagaaggcctttctgctgacaagtttgaggtgtctgcagatagttctaccagtaaaaataaagaaccaggagtggaaaggtcatccccttctaaatgcccatcattagatgataggtggtacatgcacagttgctctgggagtcttcagaatagaaactacccatctcaagaggagctcattaaggttgttgatgtggaggagcaacagctggaagagtctgggccacacgatttgacggaaacatcttacttgccaaggcaagatctagagggaaccccttacctggaatctggaatcagcctcttctctgatgaccctgaatctgatccttctgaagacagagccccagagtcagctcgtgttggcaacataccatcttcaacctctgcattgaaagttccccaattgaaagttgcagaatctgcccagagtccagctgctgctcatactactgatactgctgggtataatgcaatggaagaaagtgtgagcagggagaagccagaattgacagcttcaacagaaagggtcaacaaaagaatgtccatggtggtgtctggcctgaccccagaagaatttatgctcgtgtacaagtttgccagaaaacaccacatcactttaactaatctaattactgaagagactactcatgttgttatgaaaacagatgctgagtttgtgtgtgaacggacactgaaatattttctaggaattgcgggaggaaaatgggtagttagctatttctgggtgacccagtctattaaagaaagaaaaatgctgaatgagcatgattttgaagtcagaggagatgtggtcaatggaagaaaccaccaaggtccaaagcgagcaagagaatcccaggacagaaagatcttcagggggctagaaatctgttgctatgggcccttcaccaacatgcccacagatcaactggaatggatggtacagctgtgtggtgcttctgtggtgaaggagctttcatcattcacccttggcacaggtgtccacccaattgtggttgtgcagccagatgcctggacagaggacaatggcttccatgcaattgggcagatgtgtgaggcacctgtggtgacccgagagtgggtgttggacagtgtagcactctaccagtgccaggagctggacacctacctgataccccagatcccccacagccactactgactgcagccagccacaggtacagagccacaggaccccaagaatgagcttacaaagtggcctttccaggccctgggagctcctctcactcttcagtccttctactgtcctggctactaaatattttatgtacatcagcctgaaaaggacttctggctatgcaagggtcccttaaagattttctgcttgaagtctcccttggaaatctgccatgagcacaaaattatggtaatttttcacctgagaagattttaaaaccatttaaacgccaccaattgagcaagatgctgattcattatttatcagccctattctttctattcaggctgttgttggcttagggctggaagcacagagtggcttggcctcaagagaatagctggtttccctaagtttacttctctaaaaccctgtgttcacaaaggcagagagtcagacccttcaatggaaggagagtgcttgggatcgattatgtgacttaaagtcagaatagtccttgggcagttctcaaatgttggagtggaacattggggaggaaattctgaggcaggtattagaaatgaaaaggaaacttgaaacctgggcatggtggctcacgcctgtaatcccagcactttgggaggccaaggtgggcagatcactggaggtcaggagttcgaaaccagcctggccaacatggtgaaaccccatctctactaaaaatacagaaattagccggtcatggtggtggacacctgtaatcccagctactcaggtggctaaggcaggagaatcacttcagcccgggaggtggaggttgcagtgagccaagatcataccacggcactccagcctgggtgacagtgagactgtggctcaaaaaaaaaaaaaaaaaaaggaaaatgaaactagaagagatttctaaaagtctgagatatatttgctagatttctaaagaatgtgttctaaaacagcagaagattttcaagaaccggtttccaaagacagtcttctaattcctcattagtaataagtaaaatgtttattgttgtagctctggtatataatccattcctcttaaaatataagacctctggcatgaatatttcatatctataaaatgacagatcccaccaggaaggaagctgttgctttctttgaggtgatttttttcctttgctccctgttgctgaaaccatacagcttcataaataattttgcttgctgaaggaagaaaaagtgtttttcataaacccattatccaggactgtttatagctgttggaaggactaggtcttccctagcccccccagtgtgcaagggcagtgaagacttgattgtacaaaatacgttttgtaaatgttgtgctgttaacactgcaaataaacttggtagcaaacacttccaaaaaaaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:672 -> Molecular function: GO:0003677 [DNA binding] evidence: TAS
            GeneID:672 -> Molecular function: GO:0003713 [transcription coactivator activity] evidence: NAS
            GeneID:672 -> Molecular function: GO:0003723 [RNA binding] evidence: IDA
            GeneID:672 -> Molecular function: GO:0004842 [ubiquitin-protein ligase activity] evidence: IDA
            GeneID:672 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
            GeneID:672 -> Molecular function: GO:0008270 [zinc ion binding] evidence: IEA
            GeneID:672 -> Molecular function: GO:0015631 [tubulin binding] evidence: NAS
            GeneID:672 -> Molecular function: GO:0019899 [enzyme binding] evidence: IPI
            GeneID:672 -> Molecular function: GO:0031625 [ubiquitin protein ligase binding] evidence: IPI
            GeneID:672 -> Molecular function: GO:0044212 [transcription regulatory region DNA binding] evidence: IDA
            GeneID:672 -> Molecular function: GO:0050681 [androgen receptor binding] evidence: NAS
            GeneID:672 -> Biological process: GO:0000724 [double-strand break repair via homologous recombination] evidence: IDA
            GeneID:672 -> Biological process: GO:0000724 [double-strand break repair via homologous recombination] evidence: TAS
            GeneID:672 -> Biological process: GO:0006281 [DNA repair] evidence: TAS
            GeneID:672 -> Biological process: GO:0006301 [postreplication repair] evidence: IDA
            GeneID:672 -> Biological process: GO:0006302 [double-strand break repair] evidence: IMP
            GeneID:672 -> Biological process: GO:0006302 [double-strand break repair] evidence: TAS
            GeneID:672 -> Biological process: GO:0006357 [regulation of transcription from RNA polymerase II promoter] evidence: TAS
            GeneID:672 -> Biological process: GO:0006359 [regulation of transcription from RNA polymerase III promoter] evidence: TAS
            GeneID:672 -> Biological process: GO:0006633 [fatty acid biosynthetic process] evidence: IEA
            GeneID:672 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS
            GeneID:672 -> Biological process: GO:0006974 [response to DNA damage stimulus] evidence: TAS
            GeneID:672 -> Biological process: GO:0006978 [DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator] evidence: TAS
            GeneID:672 -> Biological process: GO:0007049 [cell cycle] evidence: IEA
            GeneID:672 -> Biological process: GO:0007059 [chromosome segregation] evidence: IMP
            GeneID:672 -> Biological process: GO:0008630 [intrinsic apoptotic signaling pathway in response to DNA damage] evidence: IDA
            GeneID:672 -> Biological process: GO:0010212 [response to ionizing radiation] evidence: IMP
            GeneID:672 -> Biological process: GO:0016567 [protein ubiquitination] evidence: IDA
            GeneID:672 -> Biological process: GO:0030521 [androgen receptor signaling pathway] evidence: NAS
            GeneID:672 -> Biological process: GO:0031398 [positive regulation of protein ubiquitination] evidence: IDA
            GeneID:672 -> Biological process: GO:0031572 [G2 DNA damage checkpoint] evidence: IMP
            GeneID:672 -> Biological process: GO:0034446 [substrate adhesion-dependent cell spreading] evidence: IDA
            GeneID:672 -> Biological process: GO:0035066 [positive regulation of histone acetylation] evidence: IDA
            GeneID:672 -> Biological process: GO:0042127 [regulation of cell proliferation] evidence: TAS
            GeneID:672 -> Biological process: GO:0042981 [regulation of apoptotic process] evidence: TAS
            GeneID:672 -> Biological process: GO:0043627 [response to estrogen stimulus] evidence: IDA
            GeneID:672 -> Biological process: GO:0045717 [negative regulation of fatty acid biosynthetic process] evidence: IMP
            GeneID:672 -> Biological process: GO:0045739 [positive regulation of DNA repair] evidence: IMP
            GeneID:672 -> Biological process: GO:0045892 [negative regulation of transcription, DNA-dependent] evidence: IDA
            GeneID:672 -> Biological process: GO:0045893 [positive regulation of transcription, DNA-dependent] evidence: NAS
            GeneID:672 -> Biological process: GO:0045893 [positive regulation of transcription, DNA-dependent] evidence: TAS
            GeneID:672 -> Biological process: GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] evidence: IDA
            GeneID:672 -> Biological process: GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] evidence: IMP
            GeneID:672 -> Biological process: GO:0046600 [negative regulation of centriole replication] evidence: NAS
            GeneID:672 -> Biological process: GO:0051571 [positive regulation of histone H3-K4 methylation] evidence: IDA
            GeneID:672 -> Biological process: GO:0051573 [negative regulation of histone H3-K9 methylation] evidence: IDA
            GeneID:672 -> Biological process: GO:0051865 [protein autoubiquitination] evidence: IDA
            GeneID:672 -> Biological process: GO:0070512 [positive regulation of histone H4-K20 methylation] evidence: IDA
            GeneID:672 -> Biological process: GO:0071158 [positive regulation of cell cycle arrest] evidence: IDA
            GeneID:672 -> Biological process: GO:0071681 [cellular response to indole-3-methanol] evidence: IDA
            GeneID:672 -> Biological process: GO:0085020 [protein K6-linked ubiquitination] evidence: IDA
            GeneID:672 -> Biological process: GO:2000145 [regulation of cell motility] evidence: IDA
            GeneID:672 -> Biological process: GO:2000617 [positive regulation of histone H3-K9 acetylation] evidence: IDA
            GeneID:672 -> Biological process: GO:2000620 [positive regulation of histone H4-K16 acetylation] evidence: IDA
            GeneID:672 -> Cellular component: GO:0000151 [ubiquitin ligase complex] evidence: NAS
            GeneID:672 -> Cellular component: GO:0001726 [ruffle] evidence: IDA
            GeneID:672 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
            GeneID:672 -> Cellular component: GO:0005654 [nucleoplasm] evidence: TAS
            GeneID:672 -> Cellular component: GO:0005694 [chromosome] evidence: ISS
            GeneID:672 -> Cellular component: GO:0005886 [plasma membrane] evidence: IDA
            GeneID:672 -> Cellular component: GO:0005925 [focal adhesion] evidence: IDA
            GeneID:672 -> Cellular component: GO:0008274 [gamma-tubulin ring complex] evidence: NAS
            GeneID:672 -> Cellular component: GO:0030529 [ribonucleoprotein complex] evidence: IDA
            GeneID:672 -> Cellular component: GO:0031436 [BRCA1-BARD1 complex] evidence: IDA
            GeneID:672 -> Cellular component: GO:0031941 [filamentous actin] evidence: IDA
            GeneID:672 -> Cellular component: GO:0043234 [protein complex] evidence: IDA
            GeneID:672 -> Cellular component: GO:0070531 [BRCA1-A complex] evidence: IDA

by @meso_cacase at DBCLS
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