AutismKB 2.0

Annotation Detail for HLA-B


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Basic Information Top
Gene Symbol:HLA-B ( AS,HLA-B27,HLA-B73,HLAB,MGC111087,SPDA1 )
Gene Full Name: major histocompatibility complex, class I, B
Band: 6p21.33
Quick LinksEntrez ID:3106; OMIM: 142830; Uniprot ID:1B07_HUMAN; ENSEMBL ID: ENSG00000234745; HGNC ID: 4932
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
110N-linked (GlcNAc...).
Location(AA) Modifications Resource
110N-linked (GlcNAc...).Swiss-Prot 53.0
344PhosphotyrosinePhospho.ELM 6.0
350PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
66Phosphoserine(MAPK)HMM predict
97Phosphothreonine(PKC)HMM predict
110N-linkedHMM predict
147Phosphotyrosine(INSR)HMM predict
183Phosphotyrosine(Jak)HMM predict
281Phosphotyrosine(EGFR)HMM predict
295Phosphothreonine(PKC)HMM predict
337Phosphoserine(PKB)HMM predict
337Phosphoserine(PKG)HMM predict
345Phosphoserine(IKK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005514
  • Location:chr6 31429629-31432913
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 31442618 31443082 464 9937
CTCF CD4SISSRdata 31442618 31443082 464 9937
CTCF HelaGSE12889 31442644 31443077 433 9947
CTCF JurkatGSE12889 31442611 31443012 401 9898
CTCF G2GSE9613 31442372 31443145 773 9845
Fos K562GSE19551 31432846 31433141 295 80
Myc K562GSE19551 31442622 31443045 423 9920
NFkBII GM10847GSE19485 31431997 31434537 2540 354
NFkBII GM12878GSE19485 31432422 31433873 1451 234
NFkBII GM12892GSE19485 31432103 31434827 2724 552
NFkBII GM15510GSE19485 31432098 31433847 1749 59
NFkBII GM18505GSE19485 31432706 31433549 843 214
NFkBII GM18526GSE19485 31432395 31433818 1423 193
NRSF JurkatGSE13047 31451513 31451859 346 18773
NRSF-mono JurkatQuESTdata 31451512 31451726 214 18706
NRSF-poly JurkatQuESTdata 31451540 31451792 252 18753
Oct1 H2O2-HelaGSE14283 31442431 31442464 33 9534
Oct4 hESGSE17917 31442713 31443015 302 9951
Pol2 GM12878GSE19551 31432702 31433381 679 128
TAFII hESGSE17917 31442717 31442971 254 9931
hScc1 BcellGSE12603 31442372 31443109 737 9827
hScc1 CdLSGSE12603 31442372 31443366 994 9956
hScc1 G2GSE9613 31442300 31443109 809 9791
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 31418799 31418828 29 10816
Oct1 HelaGSE14283 31418800 31418828 28 10816
Pol2 GM12878GSE19551 31426295 31430619 4324 1173
hScc1 BcellGSE12603 31427875 31428625 750 1380
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 31432025 31433025 1000 0
PHF8 293TGSE20725 31432444 31433272 828 0
hScc1 BcellGSE12603 31432400 31432870 470 0
Validated miRNA targets Top
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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