AutismKB 2.0

Annotation Detail for HIST2H2AC


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Basic Information Top
Gene Symbol:HIST2H2AC ( H2A,H2A-GL101,H2A/q,H2AFQ,MGC74460 )
Gene Full Name: histone cluster 2, H2ac
Band: 1q21.2
Quick LinksEntrez ID:8338; OMIM: 602797; Uniprot ID:H2A2C_HUMAN; ENSEMBL ID: ENSG00000184260; HGNC ID: 4738
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylserine.
2Phosphoserine (By similarity).
4Citrulline; alternate.
4Symmetric dimethylarginine; alternate (By
6N6-acetyllysine.
121Phosphothreonine.
123Phosphoserine.
Location(AA) Modifications Resource
2N-acetylserine.Swiss-Prot 53.0
2Phosphoserine (By similarity).Swiss-Prot 53.0
4Citrulline; alternate.Swiss-Prot 53.0
4Symmetric dimethylarginine; alternate (Bysimilarity).Swiss-Prot 53.0
6N6-acetyllysine.Swiss-Prot 53.0
120Glycyl lysine isopeptide (Lys-Gly)(interchain with G-Cter in ubiquitin).Swiss-Prot 53.0
121Phosphothreonine (Probable).Swiss-Prot 53.0
Location(AA) Modification Resource
20Phosphoserine(PKA)HMM predict
51Phosphotyrosine(SRC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_003517
  • Location:chr1 148125148-148125583
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 148124530 148125540 1010 114
p130 SenescentGSE19898 148124770 148125311 541 108
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Pol2 GM12878GSE19551 148123113 148127344 4231 0
hScc1 BcellGSE12603 148124461 148126076 1615 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