AutismKB 2.0

Annotation Detail for BCR


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Basic Information Top
Gene Symbol:BCR ( ALL,BCR1,CML,D22S11,D22S662,FLJ16453,PHL )
Gene Full Name: breakpoint cluster region
Band: 22q11.23
Quick LinksEntrez ID:613; OMIM: 151410; Uniprot ID:BCR_HUMAN; ENSEMBL ID: ENSG00000186716; HGNC ID: 1014
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
122Phosphoserine.
177Phosphotyrosine.
236Phosphoserine (By similarity).
246Phosphotyrosine (By similarity).
310Phosphothreonine.
459Phosphoserine.
463Phosphoserine.
591Phosphotyrosine.
644Phosphotyrosine.
1264Phosphoserine.
Location(AA) Modifications Resource
177Phosphotyrosine.Swiss-Prot 53.0
177Phosphotyrosine (Fes;Abl;HCK)Phospho.ELM 6.0
231PhosphotyrosinePhospho.ELM 6.0
246Phosphotyrosine (Fes)Phospho.ELM 6.0
276Phosphotyrosine (Fes)Phospho.ELM 6.0
279Phosphotyrosine (Fes)Phospho.ELM 6.0
283Phosphotyrosine (Fes)Phospho.ELM 6.0
310PhosphothreoninePhospho.ELM 6.0
310Phosphothreonine.Swiss-Prot 53.0
328PhosphotyrosinePhospho.ELM 6.0
360Phosphotyrosine (Abl)Phospho.ELM 6.0
436PhosphotyrosinePhospho.ELM 6.0
459PhosphoserinePhospho.ELM 6.0
459Phosphoserine.Swiss-Prot 53.0
463Phosphoserine.Swiss-Prot 53.0
463PhosphoserinePhospho.ELM 6.0
591PhosphotyrosinePhospho.ELM 6.0
591Phosphotyrosine.Swiss-Prot 53.0
598PhosphotyrosinePhospho.ELM 6.0
644PhosphotyrosinePhospho.ELM 6.0
644Phosphotyrosine.Swiss-Prot 53.0
1264Phosphoserine (CK2 alpha)Phospho.ELM 6.0
1264Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
93O-linkedHMM predict
95O-linkedHMM predict
95O-linkedHMM predict
122Phosphoserine(CDK)HMM predict
122Phosphoserine(CDC2)HMM predict
130Phosphothreonine(PKC)HMM predict
177Phosphotyrosine(EGFR)HMM predict
177Phosphotyrosine(Jak)HMM predict
201Phosphoserine(CK1)HMM predict
202Phosphoserine(CK1)HMM predict
215Phosphoserine(PKG)HMM predict
236PhosphoserineHMM predict
238Phosphoserine(IKK)HMM predict
246Phosphotyrosine(INSR)HMM predict
246PhosphotyrosineHMM predict
246Phosphotyrosine(EGFR)HMM predict
246Phosphotyrosine(Syk)HMM predict
279Phosphotyrosine(Syk)HMM predict
299Phosphoserine(IKK)HMM predict
301Phosphoserine(CK1)HMM predict
301PhosphoserineHMM predict
301Phosphoserine(IKK)HMM predict
301Phosphoserine(PKG)HMM predict
302Phosphothreonine(CK2)HMM predict
334Phosphoserine(CK1)HMM predict
337N-linkedHMM predict
339Phosphothreonine(CK2)HMM predict
340Phosphoserine(CK2)HMM predict
340Phosphoserine(CK1)HMM predict
341PhosphoserineHMM predict
346Phosphoserine(CK1)HMM predict
351O-linkedHMM predict
354Phosphoserine(CDC2)HMM predict
354O-linkedHMM predict
354Phosphoserine(IKK)HMM predict
356Phosphoserine(CDC2)HMM predict
356O-linkedHMM predict
369Phosphoserine(CDC2)HMM predict
371Phosphoserine(CK1)HMM predict
371Phosphoserine(IKK)HMM predict
371Phosphoserine(ATM)HMM predict
371PhosphoserineHMM predict
377Phosphoserine(PKA)HMM predict
377Phosphoserine(IKK)HMM predict
381O-linkedHMM predict
382O-linkedHMM predict
382Phosphoserine(ATM)HMM predict
382Phosphoserine(IKK)HMM predict
385Phosphothreonine(CDC2)HMM predict
432Phosphothreonine(CDC2)HMM predict
436Phosphotyrosine(INSR)HMM predict
461Phosphoserine(CK2)HMM predict
461Phosphoserine(CK1)HMM predict
534O-linkedHMM predict
534Phosphoserine(ATM)HMM predict
651Phosphothreonine(PKA)HMM predict
654Phosphothreonine(PKA)HMM predict
698Phosphoserine(PKA)HMM predict
698Phosphoserine(PKB)HMM predict
698Phosphoserine(PKG)HMM predict
700Phosphothreonine(PKC)HMM predict
819Phosphoserine(PKA)HMM predict
891Phosphothreonine(PKC)HMM predict
971Phosphothreonine(PKC)HMM predict
982N-linkedHMM predict
1045Phosphoserine(PKC)HMM predict
1049Phosphothreonine(PKC)HMM predict
1049Phosphothreonine(PKA)HMM predict
1065Phosphoserine(PKG)HMM predict
1145SulfotyrosineHMM predict
1219Phosphoserine(PKG)HMM predict
1224N-linkedHMM predict
1260Phosphoserine(IKK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004327
  • Location:chr22 21852551-21990222
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 21847574 21849660 2086 3935
CTCF CD4GSE12889 21850648 21851026 378 1715
CTCF CD4SISSRdata 21850648 21851026 378 1715
CTCF HelaGSE12889 21850685 21850907 222 1756
CTCF G2GSE9613 21846210 21846405 195 6244
CTCF G2GSE9613 21850725 21851163 438 1608
ER MCF7GSE19013 21851538 21852180 642 693
STAT1 IFNSISSRdata 21846137 21846617 480 6175
hScc1 BcellGSE12603 21850725 21851091 366 1644
hScc1 CdLSGSE12603 21850725 21851333 608 1523
hScc1 G2GSE9613 21850725 21851405 680 1487
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 21991044 21991495 451 1047
CTCF G2GSE9613 21998383 21999107 724 8523
FOXA1 MCF7GSE15244 21998577 21999138 561 8635
H3ac HepG2E 21996118 21996783 665 6228
hScc1 BcellGSE12603 21989847 21990651 804 27
hScc1 G2GSE9613 21998383 21999074 691 8506
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 21953933 21955029 1096 0
CTCF CD4GSE12889 21954020 21954426 406 0
CTCF CD4GSE12889 21962690 21962962 272 0
CTCF CD4GSE12889 21987860 21988069 209 0
CTCF CD4SISSRdata 21954020 21954426 406 0
CTCF CD4SISSRdata 21962690 21962962 272 0
CTCF CD4SISSRdata 21987860 21988069 209 0
CTCF G2GSE9613 21852519 21852892 373 0
CTCF G2GSE9613 21853250 21853662 412 0
CTCF G2GSE9613 21879869 21880245 376 0
CTCF G2GSE9613 21952872 21953227 355 0
CTCF G2GSE9613 21953757 21954357 600 0
CTCF G2GSE9613 21962641 21963070 429 0
CTCF G2GSE9613 21987513 21989476 1963 0
ER MCF7GSE19013 21941516 21942285 769 0
FOXA1 MCF7GSE15244 21854100 21855174 1074 0
FOXA1 MCF7GSE15244 21863863 21865664 1801 0
FOXA1 MCF7GSE15244 21918958 21919816 858 0
Fos K562GSE19551 21987881 21988122 241 0
H3K4me3 colorectalcancer 21854477 21854875 398 0
H3ac HepG2E 21854477 21855751 1274 0
Myc K562GSE19551 21987779 21988102 323 0
NFkBII GM12878GSE19485 21854109 21855567 1458 0
NFkBII GM12892GSE19485 21963720 21965149 1429 0
Nanog hESGSE18292 21902385 21902948 563 0
Nanog hESGSE18292 21941882 21942084 202 0
P300 T30-glioblastomaGSE21026 21953815 21955218 1403 0
RARA MCF7GSE15244 21854668 21855537 869 0
RARA MCF7GSE15244 21863975 21865728 1753 0
RARA MCF7GSE15244 21876370 21877082 712 0
RARA MCF7GSE15244 21987699 21988234 535 0
RARG MCF7GSE15244 21854593 21855817 1224 0
RARG MCF7GSE15244 21859989 21860382 393 0
RARG MCF7GSE15244 21863863 21865770 1907 0
RARG MCF7GSE15244 21876108 21877118 1010 0
RARG MCF7GSE15244 21983095 21983628 533 0
Rb shRbQuiescentGSE19898 21891104 21891308 204 0
STAT1 HeLaGSE12782 21887078 21889791 2713 0
STAT1 HeLaGSE12783 21887112 21889493 2381 0
Stat6 IL-4-hr1GSE17850 21908420 21908957 537 0
TFAP2C MCF7GSE21234 21891920 21893067 1147 0
TFAP2C MCF7GSE21234 21929082 21929751 669 0
USF1 HepG2E 21889256 21889865 609 0
USF1 HepG2E 21982011 21983962 1951 0
USF2 HepG2E 21982418 21983801 1383 0
hScc1 BcellGSE12603 21853217 21853915 698 0
hScc1 BcellGSE12603 21884987 21885344 357 0
hScc1 BcellGSE12603 21897090 21897263 173 0
hScc1 BcellGSE12603 21914705 21914885 180 0
hScc1 BcellGSE12603 21933512 21933713 201 0
hScc1 BcellGSE12603 21935255 21935709 454 0
hScc1 BcellGSE12603 21953624 21955719 2095 0
hScc1 BcellGSE12603 21987549 21988778 1229 0
hScc1 CdLSGSE12603 21953757 21954602 845 0
hScc1 CdLSGSE12603 21987549 21988597 1048 0
hScc1 G2GSE9613 21953720 21954602 882 0
hScc1 G2GSE9613 21987549 21989187 1638 0
p130 QuiescentGSE19898 21890993 21891309 316 0
p130 SenescentGSE19898 21892694 21892883 189 0
p130 SenescentGSE19898 21917483 21917757 274 0
p130 shRbQuiescentGSE19898 21890953 21891586 633 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-101 hsa-mir-101-1 1 19074828
hsa-miR-101 hsa-mir-101-2 9 19074828
hsa-miR-107 hsa-mir-107 10 20884628
hsa-miR-10a hsa-mir-10a 17 20842500
hsa-miR-10a hsa-mir-10a 17 19074828
hsa-miR-10a* hsa-mir-10a 17 20842500
hsa-miR-10a* hsa-mir-10a 17 19074828
hsa-miR-150 hsa-mir-150 19 19074828
hsa-miR-150* hsa-mir-150 19 19074828
hsa-miR-151-3p hsa-mir-151 8 19074828
hsa-miR-151-5p hsa-mir-151 8 19074828
hsa-miR-155 hsa-mir-155 21 20842500
hsa-miR-155 hsa-mir-155 21 18048365
hsa-miR-155* hsa-mir-155 21 20842500
hsa-miR-155* hsa-mir-155 21 18048365
hsa-miR-15a hsa-mir-15a 13 20884628
hsa-miR-15a* hsa-mir-15a 13 20884628
hsa-miR-15b hsa-mir-15b 3 20884628
hsa-miR-15b* hsa-mir-15b 3 20884628
hsa-miR-16 hsa-mir-16-1 13 20884628
hsa-miR-16 hsa-mir-16-2 3 20884628
hsa-miR-17 hsa-mir-17 13 17284533
hsa-miR-17* hsa-mir-17 13 17284533
hsa-miR-181a hsa-mir-181a-2 9 20693279
hsa-miR-181a hsa-mir-181a-1 1 20693279
hsa-miR-181a* hsa-mir-181a-1 1 20693279
hsa-miR-181a-2* hsa-mir-181a-2 9 20693279
hsa-miR-181b hsa-mir-181b-1 1 20693279
hsa-miR-181b hsa-mir-181b-2 9 20693279
hsa-miR-181c hsa-mir-181c 19 20693279
hsa-miR-181c* hsa-mir-181c 19 20693279
hsa-miR-181d hsa-mir-181d 19 20693279
hsa-miR-185 hsa-mir-185 22 21093320
hsa-miR-185* hsa-mir-185 22 21093320
hsa-miR-195 hsa-mir-195 17 20884628
hsa-miR-195* hsa-mir-195 17 20884628
hsa-miR-19a hsa-mir-19a 13 21176349
hsa-miR-19a* hsa-mir-19a 13 21176349
hsa-miR-203 hsa-mir-203 14 21323860
hsa-miR-21 hsa-mir-21 17 20148895
hsa-miR-21 hsa-mir-21 17 20141427
hsa-miR-21* hsa-mir-21 17 20148895
hsa-miR-21* hsa-mir-21 17 20141427
hsa-miR-223 hsa-mir-223 X 20842500
hsa-miR-223* hsa-mir-223 X 20842500
hsa-miR-328 hsa-mir-328 16 20211135
hsa-miR-34a hsa-mir-34a 1 21323860
hsa-miR-34a* hsa-mir-34a 1 21323860
hsa-miR-424 hsa-mir-424 X 20842500
hsa-miR-424* hsa-mir-424 X 20842500
hsa-miR-491-3p hsa-mir-491 9 21128281
hsa-miR-491-5p hsa-mir-491 9 21128281
hsa-miR-646 hsa-mir-646 20 21128281
hsa-miR-92a hsa-mir-92a-1 13 17284533
hsa-miR-92a hsa-mir-92a-2 X 17284533
hsa-miR-96 hsa-mir-96 7 19074828
hsa-miR-96* hsa-mir-96 7 19074828
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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