AutismKB 2.0

Annotation Detail for HLA-DRB1


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Basic Information Top
Gene Symbol:HLA-DRB1 ( DRB1,DRw10,FLJ75017,FLJ76359,HLA-DR1B,HLA-DRB,HLA-DRB1*,SS1 )
Gene Full Name: major histocompatibility complex, class II, DR beta 1
Band: 6p21.32
Quick LinksEntrez ID:3123; OMIM: 142857; Uniprot ID:2B1F_HUMAN; ENSEMBL ID: ENSG00000196126; HGNC ID: 4948
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
48N-linked (GlcNAc...).
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002124
  • Location:chr6 32654526-32665558
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 32665519 32665790 271 96
NFkBII GM12878GSE19485 32683040 32687355 4315 19639
Pol2 GM12878GSE19551 32665126 32666013 887 11
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER MCF7GSE19013 32635256 32635901 645 18948
ER MCF7GSE19013 32642437 32643234 797 11691
Oct1 HelaGSE14283 32649319 32649380 61 5177
Pol2 GM12878GSE19551 32652901 32654320 1419 916
TFAP2C MCF7GSE21234 32635456 32635996 540 18801
TFAP2C MCF7GSE21234 32642568 32643070 502 11708
No data
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