AutismKB 2.0

Annotation Detail for BRCA2


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Basic Information Top
Gene Symbol:BRCA2 ( BRCC2,BROVCA2,FACD,FAD,FAD1,FANCB,FANCD,FANCD1,GLM3,PNCA2 )
Gene Full Name: breast cancer 2, early onset
Band: 13q13.1
Quick LinksEntrez ID:675; OMIM: 600185; Uniprot ID:BRCA2_HUMAN; ENSEMBL ID: ENSG00000139618; HGNC ID: 1101
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
683Phosphoserine.
755Phosphoserine.
Location(AA) Modifications Resource
193Phosphoserine (PLK1)Phospho.ELM 6.0
Location(AA) Modification Resource
36Phosphoserine(CK2)HMM predict
42Phosphotyrosine(Abl)HMM predict
57Phosphotyrosine(INSR)HMM predict
64Phosphothreonine(CDC2)HMM predict
93Phosphoserine(CDC2)HMM predict
93Phosphoserine(CDK)HMM predict
116Phosphoserine(PKA)HMM predict
152Phosphothreonine(CDC2)HMM predict
152Phosphothreonine(CDK)HMM predict
176Phosphothreonine(PKC)HMM predict
176Phosphothreonine(MAPK)HMM predict
176PhosphothreonineHMM predict
197O-linkedHMM predict
200O-linkedHMM predict
200Phosphothreonine(MAPK)HMM predict
203O-linkedHMM predict
253Phosphoserine(IKK)HMM predict
296Phosphotyrosine(EGFR)HMM predict
296Phosphotyrosine(SRC)HMM predict
296Phosphotyrosine(Abl)HMM predict
296Phosphotyrosine(Syk)HMM predict
296PhosphotyrosineHMM predict
307Phosphoserine(IKK)HMM predict
361N-linkedHMM predict
424Phosphoserine(CK2)HMM predict
445Phosphoserine(CK1)HMM predict
451Phosphoserine(PKB)HMM predict
489O-linkedHMM predict
511Phosphoserine(CDC2)HMM predict
517N-linkedHMM predict
533Phosphothreonine(PKA)HMM predict
560N-linkedHMM predict
646Phosphoserine(IKK)HMM predict
648Phosphoserine(ATM)HMM predict
650N-linkedHMM predict
658Phosphoserine(CK1)HMM predict
673N-linkedHMM predict
678N-linkedHMM predict
679N-linkedHMM predict
683PhosphoserineHMM predict
748SulfotyrosineHMM predict
772O-linkedHMM predict
772Phosphothreonine(MAPK)HMM predict
791Phosphoserine(PKG)HMM predict
803Phosphotyrosine(INSR)HMM predict
828Phosphotyrosine(Syk)HMM predict
839Phosphotyrosine(Syk)HMM predict
844Phosphoserine(CDC2)HMM predict
869Phosphoserine(CK1)HMM predict
884Phosphoserine(CK1)HMM predict
924N-linkedHMM predict
989Phosphotyrosine(INSR)HMM predict
1060Phosphoserine(CK1)HMM predict
1064Phosphoserine(IKK)HMM predict
1102N-linkedHMM predict
1106Phosphoserine(ATM)HMM predict
1123Phosphoserine(ATM)HMM predict
1201N-linkedHMM predict
1252Phosphoserine(CK1)HMM predict
1259O-linkedHMM predict
1259Phosphoserine(MAPK)HMM predict
1324Phosphotyrosine(INSR)HMM predict
1324Phosphotyrosine(Syk)HMM predict
1339Phosphoserine(CK2)HMM predict
1344N-linkedHMM predict
1629Phosphothreonine(PKC)HMM predict
1650Phosphoserine(IKK)HMM predict
1653O-linkedHMM predict
1657N-linkedHMM predict
1674O-linkedHMM predict
1679Phosphothreonine(PKA)HMM predict
1679PhosphothreonineHMM predict
1680Phosphoserine(PKG)HMM predict
1680Phosphoserine(CAMK2)HMM predict
1680Phosphoserine(IKK)HMM predict
1682Phosphoserine(IKK)HMM predict
1718N-linkedHMM predict
1719N-linkedHMM predict
1721N-linkedHMM predict
1727N-linkedHMM predict
1739Phosphotyrosine(INSR)HMM predict
1739Phosphotyrosine(Jak)HMM predict
1742N-linkedHMM predict
1747N-linkedHMM predict
1757Phosphotyrosine(Syk)HMM predict
1758N-linkedHMM predict
1784N-linkedHMM predict
1818Phosphoserine(CDC2)HMM predict
1880N-linkedHMM predict
2026Phosphothreonine(CK2)HMM predict
2035Phosphothreonine(MAPK)HMM predict
2035Phosphothreonine(CDK)HMM predict
2051N-linkedHMM predict
2156Phosphoserine(ATM)HMM predict
2222Phosphotyrosine(INSR)HMM predict
2222Phosphotyrosine(Syk)HMM predict
2348N-linkedHMM predict
2403Phosphothreonine(PKC)HMM predict
2648Phosphoserine(CDC2)HMM predict
2648Phosphoserine(CDK)HMM predict
2670Phosphoserine(PKC)HMM predict
2699N-linkedHMM predict
2704O-linkedHMM predict
2706N-linkedHMM predict
2708O-linkedHMM predict
2709O-linkedHMM predict
2746Phosphothreonine(PKC)HMM predict
2781N-linkedHMM predict
2810Phosphoserine(CK1)HMM predict
2879N-linkedHMM predict
2884Phosphotyrosine(Jak)HMM predict
2891Phosphothreonine(PKC)HMM predict
2920Phosphotyrosine(INSR)HMM predict
2954PhosphoserineHMM predict
2998Phosphoserine(CK1)HMM predict
3035Phosphotyrosine(EGFR)HMM predict
3049Phosphotyrosine(Syk)HMM predict
3133Phosphoserine(IKK)HMM predict
3149Phosphoserine(CDC2)HMM predict
3199O-linkedHMM predict
3200O-linkedHMM predict
3239Phosphoserine(IKK)HMM predict
3242Phosphothreonine(CDK)HMM predict
3308Phosphotyrosine(Abl)HMM predict
3323Phosphothreonine(CDC2)HMM predict
3338Phosphoserine(CK2)HMM predict
3375Phosphoserine(CK2)HMM predict
3379Phosphotyrosine(Jak)HMM predict
3379Phosphotyrosine(Syk)HMM predict
3387Phosphothreonine(PKA)HMM predict
3396Phosphoserine(CK2)HMM predict
3397Phosphoserine(ATM)HMM predict
3397Phosphoserine(IKK)HMM predict
3400Phosphoserine(IKK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000059
  • Location:chr13 31787616-31871808
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 31782397 31782653 256 5092
CTCF G2GSE9613 31783470 31783915 445 3924
H3K4me2 HCT116GSE10453 31787020 31787244 224 485
H3ac HepG2E 31787020 31787398 378 408
Oct1 HelaGSE14283 31778630 31778668 38 8968
RARG MCF7GSE15244 31787020 31787771 751 221
USF1 HepG2E 31786368 31786680 312 1093
hScc1 BcellGSE12603 31783537 31783951 414 3873
hScc1 CdLSGSE12603 31782364 31782770 406 5050
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 31853857 31854033 176 0
CTCF CD4SISSRdata 31853857 31854033 176 0
CTCF G2GSE9613 31787367 31788112 745 0
CTCF G2GSE9613 31853646 31854072 426 0
E2F4 G0GSE7516 31787281 31788148 867 0
ER E2-MCF7GSE14664 31804444 31804478 34 0
ER E2-MCF7GSE14664 31815064 31815149 85 0
ER E2-MCF7GSE14664 31817828 31817929 101 0
ETS1 JurkatGSE17954 31787029 31788553 1524 0
H3K4me3 colorectalcancer 31788000 31788907 907 0
H3ac HepG2E 31787964 31788907 943 0
LIN9 G0GSE7516 31787020 31788234 1214 0
LIN9 SGSE7516 31787281 31788434 1153 0
Nanog ESGSE20650 31863431 31863787 356 0
Oct1 H2O2-HelaGSE14283 31804453 31804487 34 0
Oct4 hESGSE17917 31863457 31863773 316 0
PHF8 293TGSE20725 31787205 31788427 1222 0
PHF8 HeLaGSE20725 31787186 31788621 1435 0
PHF8 Hs68minusFBSGSE20725 31787021 31788654 1633 0
PolII HeLaGSE12783 31786931 31788753 1822 0
Rb QuiescentGSE19898 31787522 31788266 744 0
Rb SenescentGSE19898 31787421 31788245 824 0
Rb shRbSenescenceGSE19898 31787848 31788250 402 0
STAT1 HeLaGSE12783 31786617 31788853 2236 0
TAF k562GSE8489 31788112 31788907 795 0
TFAP2C MCF7GSE21234 31787478 31788324 846 0
TFAP2C MCF7GSE21234 31863255 31863746 491 0
USF1 HepG2E 31787020 31788907 1887 0
USF2 HepG2E 31787020 31788583 1563 0
hScc1 BcellGSE12603 31853717 31854114 397 0
hScc1 CdLSGSE12603 31853541 31854183 642 0
p130 QuiescentGSE19898 31787010 31788494 1484 0
p130 SenescentGSE19898 31787002 31788603 1601 0
p130 shRbQuiescentGSE19898 31786909 31788481 1572 0
p130 shRbSenescentGSE19898 31787093 31788484 1391 0
p130 G0GSE7516 31787128 31788194 1066 0
p130 SGSE7516 31787367 31788471 1104 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
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 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 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-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-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-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-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-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 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-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-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-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-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-125a-3p hsa-mir-125a 19 19950226
hsa-miR-125a-3p hsa-mir-125a 19 19950226
hsa-miR-125a-5p hsa-mir-125a 19 19950226
hsa-miR-125a-5p hsa-mir-125a 19 19950226
hsa-miR-140-3p hsa-mir-140 16 19950226
hsa-miR-140-3p hsa-mir-140 16 19950226
hsa-miR-140-5p hsa-mir-140 16 19950226
hsa-miR-140-5p hsa-mir-140 16 19950226
hsa-miR-146a hsa-mir-146a 5 20810544
hsa-miR-146a hsa-mir-146a 5 18660546
hsa-miR-146a hsa-mir-146a 5 20810544
hsa-miR-146a hsa-mir-146a 5 18660546
hsa-miR-146a* hsa-mir-146a 5 20810544
hsa-miR-146a* hsa-mir-146a 5 18660546
hsa-miR-146a* hsa-mir-146a 5 20810544
hsa-miR-146a* hsa-mir-146a 5 18660546
hsa-miR-146b-3p hsa-mir-146b 10 18660546
hsa-miR-146b-3p hsa-mir-146b 10 18660546
hsa-miR-146b-5p 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-149* hsa-mir-149 2 19950226
hsa-miR-149* hsa-mir-149 2 19950226
hsa-miR-17 hsa-mir-17 13 20810544
hsa-miR-17 hsa-mir-17 13 20810544
hsa-miR-17* hsa-mir-17 13 20810544
hsa-miR-17* hsa-mir-17 13 20810544
hsa-miR-27a hsa-mir-27a 19 19950226
hsa-miR-27a hsa-mir-27a 19 19950226
hsa-miR-27a* hsa-mir-27a 19 19950226
hsa-miR-27a* hsa-mir-27a 19 19950226
hsa-miR-369-3p hsa-mir-369 14 20810544
hsa-miR-369-3p hsa-mir-369 14 20810544
hsa-miR-369-5p hsa-mir-369 14 20810544
hsa-miR-369-5p hsa-mir-369 14 20810544
hsa-miR-423-3p hsa-mir-423 17 19950226
hsa-miR-423-3p hsa-mir-423 17 19950226
hsa-miR-423-5p hsa-mir-423 17 19950226
hsa-miR-423-5p hsa-mir-423 17 19950226
hsa-miR-92a hsa-mir-92a-1 13 19950226
hsa-miR-92a hsa-mir-92a-1 13 19950226
hsa-miR-92a-1* hsa-mir-92a-1 13 19950226
hsa-miR-92a-1* hsa-mir-92a-1 13 19950226
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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