AutismKB 2.0

Annotation Detail for HIST1H2BD


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Basic Information Top
Gene Symbol:HIST1H2BD ( H2B.1B,H2B/b,H2BFB,HIRIP2,MGC90432,dJ221C16.6 )
Gene Full Name: histone cluster 1, H2bd
Band: 6p22.2
Quick LinksEntrez ID:3017; OMIM: 602799; Uniprot ID:H2B1D_HUMAN; ENSEMBL ID: ENSG00000158373; HGNC ID: 4747
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
6N6-acetyllysine.
12N6-acetyllysine.
13N6-acetyllysine.
15Phosphoserine; by STK4.
16N6-acetyllysine.
17N6-acetyllysine.
21N6-acetyllysine.
24N6-acetyllysine.
47N6-methyllysine.
58N6,N6-dimethyllysine.
109N6-acetyllysine; alternate.
109N6-methyllysine; alternate.
Location(AA) Modifications Resource
6N6-acetyllysine.Swiss-Prot 53.0
12N6-acetyllysine.Swiss-Prot 53.0
13N6-acetyllysine.Swiss-Prot 53.0
15Phosphoserine (by STK4).Swiss-Prot 53.0
16N6-acetyllysine.Swiss-Prot 53.0
17N6-acetyllysine.Swiss-Prot 53.0
21N6-acetyllysine.Swiss-Prot 53.0
24N6-acetyllysine.Swiss-Prot 53.0
47N6-methyllysine.Swiss-Prot 53.0
58N6,N6-dimethyllysine.Swiss-Prot 53.0
109N6-acetyllysine; alternate.Swiss-Prot 53.0
109N6-methyllysine; alternate.Swiss-Prot 53.0
121Glycyl lysine isopeptide (Lys-Gly)(interchain with G-Cter in ubiquitin).Swiss-Prot 53.0
Location(AA) Modification Resource
15Phosphoserine(PKA)HMM predict
33Phosphoserine(PKA)HMM predict
33Phosphoserine(PKC)HMM predict
33Phosphoserine(PKG)HMM predict
37Phosphoserine(PKA)HMM predict
37Phosphoserine(PKC)HMM predict
37Phosphoserine(PKG)HMM predict
38Phosphotyrosine(PKG)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_021063
  • Location:chr6 26266327-26266847
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 26265734 26266831 1097 45
NRSF mAbJurkat 26264964 26267151 2187 270
Pol2 GM12878GSE19551 26264217 26267437 3220 501
RARA MCF7GSE15244 26264850 26266940 2090 433
RARG MCF7GSE15244 26265734 26266866 1132 28
USF2 HepG2E 26265333 26267077 1744 123
VDR GM10855-UnstimGSE22484 26263617 26268983 5366 28
VDR GM10855-stimGSE22484 26263048 26268956 5908 326
VDR GM10861-UnstimGSE22484 26263229 26268883 5654 272
VDR GM10861-stimGSE22484 26263322 26268959 5637 187
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K4me3 colorectalcancer 26266362 26267151 789 0
LIN9 G0GSE7516 26266327 26266866 539 0
PHF8 293TGSE20725 26266085 26267081 996 0
TAF k562GSE8489 26265074 26268358 3284 0
p130 G0GSE7516 26266327 26266902 575 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