AutismKB 2.0

Annotation Detail for BRCA1


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Basic Information Top
Gene Symbol:BRCA1 ( BRCAI,BRCC1,BROVCA1,IRIS,PNCA4,PSCP,RNF53 )
Gene Full Name: breast cancer 1, early onset
Band: 17q21.31
Quick LinksEntrez ID:672; OMIM: 113705; Uniprot ID:BRCA1_HUMAN; ENSEMBL ID: ENSG00000012048; HGNC ID: 1100
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
308Phosphoserine; by STK6.
395Phosphoserine.
398Phosphoserine.
403Phosphoserine.
753Phosphoserine.
840Phosphoserine (By similarity).
1143Phosphoserine; by ATR; in vitro.
1211Phosphoserine.
1212Phosphoserine.
1217Phosphoserine.
1218Phosphoserine.
1239Phosphoserine.
1245Phosphoserine.
1280Phosphoserine; by ATR; in vitro.
1330Phosphoserine.
1336Phosphoserine.
1342Phosphoserine.
1387Phosphoserine; by ATM and ATR.
1394Phosphothreonine; by ATR; in vitro.
1423Phosphoserine; by ATM and ATR.
1457Phosphoserine; by ATR; in vitro.
1466Phosphoserine.
1524Phosphoserine; by ATM.
1542Phosphoserine.
1700Phosphothreonine.
1720Phosphothreonine.
Location(AA) Modifications Resource
308Phosphoserine (Aurora A)Phospho.ELM 6.0
509Phosphothreonine (PKB
988Phosphoserine (CHK2)Phospho.ELM 6.0
1143Phosphoserine; by ATR; in vitro.Swiss-Prot 53.0
1189PhosphoserinePhospho.ELM 6.0
1211Phosphoserine.Swiss-Prot 53.0
1212Phosphoserine.Swiss-Prot 53.0
1217Phosphoserine.Swiss-Prot 53.0
1218Phosphoserine.Swiss-Prot 53.0
1280Phosphoserine; by ATR; in vitro.Swiss-Prot 53.0
1330Phosphoserine (ATM)Phospho.ELM 6.0
1336Phosphoserine.Swiss-Prot 53.0
1336PhosphoserinePhospho.ELM 6.0
1387Phosphoserine (by ATM and ATR).Swiss-Prot 53.0
1387Phosphoserine (ATM)Phospho.ELM 6.0
1394Phosphothreonine; by ATR; in vitro.Swiss-Prot 53.0
1423Phosphoserine (by ATM and ATR).Swiss-Prot 53.0
1423Phosphoserine (ATM;ATR)Phospho.ELM 6.0
1457Phosphoserine (ATM;ATR)Phospho.ELM 6.0
1457Phosphoserine; by ATR; in vitro.Swiss-Prot 53.0
1466Phosphoserine (ATM)Phospho.ELM 6.0
1497Phosphoserine (CDK2;CDK
1499PhosphoserinePhospho.ELM 6.0
1524Phosphoserine (ATM;ATR)Phospho.ELM 6.0
1524Phosphoserine (by ATM).Swiss-Prot 53.0
1542PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
101Phosphotyrosine(INSR)HMM predict
112N-linkedHMM predict
113N-linkedHMM predict
114PhosphoserineHMM predict
144N-linkedHMM predict
151Phosphoserine(CK1)HMM predict
153Phosphoserine(CK2)HMM predict
157Phosphoserine(IKK)HMM predict
186Phosphoserine(CK2)HMM predict
186PhosphoserineHMM predict
247N-linkedHMM predict
306N-linkedHMM predict
333Phosphothreonine(MAPK)HMM predict
335Phosphoserine(PKC)HMM predict
335Phosphoserine(PKB)HMM predict
376N-linkedHMM predict
395Phosphoserine(ATM)HMM predict
423Phosphoserine(CK1)HMM predict
423Phosphoserine(CK2)HMM predict
449Phosphoserine(CK1)HMM predict
454Phosphoserine(CK2)HMM predict
509Phosphothreonine(PKA)HMM predict
510Phosphoserine(IKK)HMM predict
537N-linkedHMM predict
542N-linkedHMM predict
547N-linkedHMM predict
550N-linkedHMM predict
555N-linkedHMM predict
603Phosphoserine(CDK)HMM predict
615Phosphoserine(PKG)HMM predict
616Phosphoserine(PKA)HMM predict
630N-linkedHMM predict
632Phosphoserine(PKA)HMM predict
632Phosphoserine(IKK)HMM predict
635N-linkedHMM predict
646Phosphoserine(CK1)HMM predict
714N-linkedHMM predict
723N-linkedHMM predict
737Phosphothreonine(PKC)HMM predict
741Phosphoserine(PKG)HMM predict
760Phosphothreonine(PKC)HMM predict
763Phosphoserine(CK1)HMM predict
768Phosphoserine(CK1)HMM predict
784Phosphoserine(CK1)HMM predict
796Phosphothreonine(PKC)HMM predict
824N-linkedHMM predict
838N-linkedHMM predict
868Phosphoserine(PKA)HMM predict
913N-linkedHMM predict
916N-linkedHMM predict
924N-linkedHMM predict
961N-linkedHMM predict
1007PhosphoserineHMM predict
1041Phosphoserine(CK1)HMM predict
1049Phosphoserine(CK2)HMM predict
1113Phosphotyrosine(EGFR)HMM predict
1113Phosphotyrosine(SRC)HMM predict
1113Phosphotyrosine(Syk)HMM predict
1164Phosphoserine(IKK)HMM predict
1189Phosphoserine(CDC2)HMM predict
1189Phosphoserine(ATM)HMM predict
1191O-linkedHMM predict
1191Phosphoserine(CDC2)HMM predict
1191Phosphoserine(ATM)HMM predict
1191PhosphoserineHMM predict
1211Phosphoserine(CK1)HMM predict
1211PhosphoserineHMM predict
1212Phosphoserine(CK1)HMM predict
1212PhosphoserineHMM predict
1215N-linkedHMM predict
1217Phosphoserine(CK1)HMM predict
1217Phosphoserine(CK2)HMM predict
1218Phosphoserine(CK1)HMM predict
1218Phosphoserine(CK2)HMM predict
1218Phosphoserine(CK2)HMM predict
1245Phosphoserine(PKA)HMM predict
1245Phosphoserine(IKK)HMM predict
1262Phosphoserine(CK1)HMM predict
1280Phosphoserine(ATM)HMM predict
1298Phosphoserine(IKK)HMM predict
1301Phosphoserine(CK2)HMM predict
1330Phosphoserine(ATM)HMM predict
1342Phosphoserine(CK2)HMM predict
1342PhosphoserineHMM predict
1370Phosphoserine(IKK)HMM predict
1377Phosphoserine(CK1)HMM predict
1377Phosphoserine(CK2)HMM predict
1377Phosphoserine(IKK)HMM predict
1383Phosphoserine(ATM)HMM predict
1387Phosphoserine(ATM)HMM predict
1399Phosphothreonine(PKA)HMM predict
1423Phosphoserine(ATM)HMM predict
1423Phosphoserine(IKK)HMM predict
1437Phosphoserine(CK2)HMM predict
1448O-linkedHMM predict
1457Phosphoserine(ATM)HMM predict
1466Phosphoserine(ATM)HMM predict
1483O-linkedHMM predict
1486Phosphoserine(CK1)HMM predict
1497Phosphoserine(CDC2)HMM predict
1497Phosphoserine(CDK)HMM predict
1499Phosphoserine(IKK)HMM predict
1524Phosphoserine(ATM)HMM predict
1542Phosphoserine(ATM)HMM predict
1563Phosphotyrosine(Jak)HMM predict
1577Phosphoserine(CK2)HMM predict
1577Phosphoserine(ATM)HMM predict
1580Phosphoserine(CK1)HMM predict
1619O-linkedHMM predict
1625Phosphotyrosine(Syk)HMM predict
1658Phosphothreonine(MAPK)HMM predict
1768S-palmitoylHMM predict
1834Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7a hsa-let-7a-1 9 20167074
hsa-let-7a hsa-let-7a-1 9 20676756
hsa-let-7a hsa-let-7a-2 11 20676756
hsa-let-7a hsa-let-7a-3 22 20676756
hsa-let-7a hsa-let-7a-1 9 20647319
hsa-let-7a hsa-let-7a-2 11 20647319
hsa-let-7a hsa-let-7a-3 22 20647319
hsa-let-7a* hsa-let-7a-1 9 20167074
hsa-let-7a* hsa-let-7a-1 9 20676756
hsa-let-7a* hsa-let-7a-3 22 20676756
hsa-let-7a* hsa-let-7a-1 9 20647319
hsa-let-7a* hsa-let-7a-3 22 20647319
hsa-let-7b hsa-let-7b 22 20676756
hsa-let-7b hsa-let-7b 22 20647319
hsa-let-7b* hsa-let-7b 22 20676756
hsa-let-7b* hsa-let-7b 22 20647319
hsa-let-7c hsa-let-7c 21 20676756
hsa-let-7c hsa-let-7c 21 20647319
hsa-let-7c* hsa-let-7c 21 20676756
hsa-let-7c* hsa-let-7c 21 20647319
hsa-let-7d hsa-let-7d 9 20676756
hsa-let-7d hsa-let-7d 9 20647319
hsa-let-7d* hsa-let-7d 9 20676756
hsa-let-7d* hsa-let-7d 9 20647319
hsa-let-7e hsa-let-7e 19 20676756
hsa-let-7e hsa-let-7e 19 20647319
hsa-let-7e* hsa-let-7e 19 20676756
hsa-let-7e* hsa-let-7e 19 20647319
hsa-let-7f hsa-let-7f-1 9 20676756
hsa-let-7f hsa-let-7f-2 X 20676756
hsa-let-7f hsa-let-7f-1 9 20647319
hsa-let-7f hsa-let-7f-2 X 20647319
hsa-let-7f-1* hsa-let-7f-1 9 20676756
hsa-let-7f-1* hsa-let-7f-1 9 20647319
hsa-let-7f-2* hsa-let-7f-2 X 20676756
hsa-let-7f-2* hsa-let-7f-2 X 20647319
hsa-let-7g hsa-let-7g 3 20676756
hsa-let-7g hsa-let-7g 3 20647319
hsa-let-7g* hsa-let-7g 3 20676756
hsa-let-7g* hsa-let-7g 3 20647319
hsa-let-7i hsa-let-7i 12 20676756
hsa-let-7i hsa-let-7i 12 20647319
hsa-let-7i* hsa-let-7i 12 20676756
hsa-let-7i* hsa-let-7i 12 20647319
hsa-miR-106b hsa-mir-106b 7 20167074
hsa-miR-106b* hsa-mir-106b 7 20167074
hsa-miR-125a-3p hsa-mir-125a 19 19048628
hsa-miR-125a-3p hsa-mir-125a 19 19950226
hsa-miR-125a-5p hsa-mir-125a 19 19048628
hsa-miR-125a-5p hsa-mir-125a 19 19950226
hsa-miR-125b hsa-mir-125b-1 11 19048628
hsa-miR-125b hsa-mir-125b-2 21 19048628
hsa-miR-125b-1* hsa-mir-125b-1 11 19048628
hsa-miR-125b-2* hsa-mir-125b-2 21 19048628
hsa-miR-128 hsa-mir-128-1 2 19048628
hsa-miR-128 hsa-mir-128-2 3 19048628
hsa-miR-132 hsa-mir-132 17 20167074
hsa-miR-132* hsa-mir-132 17 20167074
hsa-miR-139-3p hsa-mir-139 11 20167074
hsa-miR-139-5p hsa-mir-139 11 20167074
hsa-miR-140-3p hsa-mir-140 16 20167074
hsa-miR-140-3p hsa-mir-140 16 19950226
hsa-miR-140-5p hsa-mir-140 16 20167074
hsa-miR-140-5p hsa-mir-140 16 19950226
hsa-miR-143 hsa-mir-143 5 20167074
hsa-miR-143* hsa-mir-143 5 20167074
hsa-miR-146a hsa-mir-146a 5 20810544
hsa-miR-146a hsa-mir-146a 5 19944095
hsa-miR-146a hsa-mir-146a 5 19048628
hsa-miR-146a hsa-mir-146a 5 18660546
hsa-miR-146a* hsa-mir-146a 5 20810544
hsa-miR-146a* hsa-mir-146a 5 19944095
hsa-miR-146a* hsa-mir-146a 5 19048628
hsa-miR-146a* hsa-mir-146a 5 18660546
hsa-miR-146b-3p hsa-mir-146b 10 18660546
hsa-miR-146b-5p hsa-mir-146b 10 18660546
hsa-miR-149 hsa-mir-149 2 19950226
hsa-miR-149* hsa-mir-149 2 19950226
hsa-miR-154 hsa-mir-154 14 20167074
hsa-miR-154* hsa-mir-154 14 20167074
hsa-miR-17 hsa-mir-17 13 20810544
hsa-miR-17 hsa-mir-17 13 19048628
hsa-miR-17* hsa-mir-17 13 20810544
hsa-miR-17* hsa-mir-17 13 19048628
hsa-miR-185 hsa-mir-185 22 20167074
hsa-miR-185* hsa-mir-185 22 20167074
hsa-miR-188-3p hsa-mir-188 X 20167074
hsa-miR-188-5p hsa-mir-188 X 20167074
hsa-miR-191 hsa-mir-191 3 20167074
hsa-miR-191 hsa-mir-191 3 19048628
hsa-miR-191* hsa-mir-191 3 20167074
hsa-miR-191* hsa-mir-191 3 19048628
hsa-miR-192 hsa-mir-192 11 19205878
hsa-miR-192* hsa-mir-192 11 19205878
hsa-miR-197 hsa-mir-197 1 20167074
hsa-miR-198 hsa-mir-198 0 20167074
hsa-miR-19a hsa-mir-19a 13 20167074
hsa-miR-19a* hsa-mir-19a 13 20167074
hsa-miR-200a hsa-mir-200a 1 20167074
hsa-miR-200a* hsa-mir-200a 1 20167074
hsa-miR-205 hsa-mir-205 1 20167074
hsa-miR-20a hsa-mir-20a 13 20167074
hsa-miR-20a hsa-mir-20a 13 19048628
hsa-miR-20a* hsa-mir-20a 13 20167074
hsa-miR-20a* hsa-mir-20a 13 19048628
hsa-miR-21 hsa-mir-21 17 20167074
hsa-miR-21 hsa-mir-21 17 19048628
hsa-miR-21* hsa-mir-21 17 20167074
hsa-miR-21* hsa-mir-21 17 19048628
hsa-miR-216a hsa-mir-216a 2 20167074
hsa-miR-221 hsa-mir-221 X 20167074
hsa-miR-221* hsa-mir-221 X 20167074
hsa-miR-222 hsa-mir-222 X 20167074
hsa-miR-222* hsa-mir-222 X 20167074
hsa-miR-223 hsa-mir-223 X 19048628
hsa-miR-223* hsa-mir-223 X 19048628
hsa-miR-24 hsa-mir-24-1 9 19048628
hsa-miR-24 hsa-mir-24-2 19 19048628
hsa-miR-24-1* hsa-mir-24-1 9 19048628
hsa-miR-24-2* hsa-mir-24-2 19 19048628
hsa-miR-26b hsa-mir-26b 2 20167074
hsa-miR-26b* hsa-mir-26b 2 20167074
hsa-miR-27a hsa-mir-27a 19 19950226
hsa-miR-27a* hsa-mir-27a 19 19950226
hsa-miR-29a hsa-mir-29a 7 20167074
hsa-miR-29a* hsa-mir-29a 7 20167074
hsa-miR-29b hsa-mir-29b-2 1 20167074
hsa-miR-29b hsa-mir-29b-1 7 19048628
hsa-miR-29b hsa-mir-29b-2 1 19048628
hsa-miR-29b-1* hsa-mir-29b-1 7 19048628
hsa-miR-29b-2* hsa-mir-29b-2 1 20167074
hsa-miR-29b-2* hsa-mir-29b-2 1 19048628
hsa-miR-30c hsa-mir-30c-2 6 19048628
hsa-miR-30c hsa-mir-30c-1 1 19048628
hsa-miR-30c-1* hsa-mir-30c-1 1 19048628
hsa-miR-30c-2* hsa-mir-30c-2 6 19048628
hsa-miR-320a hsa-mir-320a 8 20167074
hsa-miR-34c-3p hsa-mir-34c 11 19798417
hsa-miR-34c-5p hsa-mir-34c 11 19798417
hsa-miR-369-3p hsa-mir-369 14 20810544
hsa-miR-369-5p hsa-mir-369 14 20810544
hsa-miR-370 hsa-mir-370 14 20167074
hsa-miR-381 hsa-mir-381 14 20167074
hsa-miR-423-3p hsa-mir-423 17 19950226
hsa-miR-423-5p hsa-mir-423 17 19950226
hsa-miR-9 hsa-mir-9-1 1 20167074
hsa-miR-9 hsa-mir-9-2 5 20167074
hsa-miR-9 hsa-mir-9-3 15 20167074
hsa-miR-9* hsa-mir-9-1 1 20167074
hsa-miR-9* hsa-mir-9-2 5 20167074
hsa-miR-9* hsa-mir-9-3 15 20167074
hsa-miR-920 hsa-mir-920 12 19048628
hsa-miR-92a hsa-mir-92a-1 13 19950226
hsa-miR-92a-1* hsa-mir-92a-1 13 19950226
hsa-miR-93 hsa-mir-93 7 20167074
hsa-miR-93* hsa-mir-93 7 20167074
No data
Cis-Nats regulation Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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