AutismKB 2.0

Annotation Detail for H2AFY


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Basic Information Top
Gene Symbol:H2AFY ( H2A.y,H2A/y,H2AF12M,H2AFJ,MACROH2A1.1,mH2A1,macroH2A1.2 )
Gene Full Name: H2A histone family, member Y
Band: 5q31.1
Quick LinksEntrez ID:9555; OMIM: 610054; Uniprot ID:H2AY_HUMAN; ENSEMBL ID: ENSG00000113648; HGNC ID: 4740
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
18N6-methyllysine.
123N6,N6-dimethyllysine (Probable).
129Phosphothreonine.
170Phosphoserine.
173Phosphoserine.
174Phosphothreonine.
178Phosphothreonine.
Location(AA) Modifications Resource
18N6-methyllysine.Swiss-Prot 53.0
116Glycyl lysine isopeptide (Lys-Gly)(interchain with G-Cter in ubiquitin)(alternate).Swiss-Prot 53.0
117Glycyl lysine isopeptide (Lys-Gly)(interchain with G-Cter in ubiquitin)(alternate).Swiss-Prot 53.0
123N6,N6-dimethyllysine (Probable).Swiss-Prot 53.0
128PhosphothreoninePhospho.ELM 6.0
129Phosphothreonine.Swiss-Prot 53.0
178Phosphothreonine.Swiss-Prot 53.0
Location(AA) Modification Resource
48Phosphotyrosine(SRC)HMM predict
77Phosphothreonine(PKC)HMM predict
77Phosphothreonine(MAPK)HMM predict
77Phosphothreonine(PKA)HMM predict
120Phosphoserine(PKA)HMM predict
129PhosphothreonineHMM predict
138Phosphoserine(CDC2)HMM predict
140PhosphoserineHMM predict
140Phosphoserine(PKC)HMM predict
140Phosphoserine(ATM)HMM predict
158Phosphoserine(PKG)HMM predict
158Phosphoserine(PKC)HMM predict
173O-linkedHMM predict
173Phosphoserine(CK1)HMM predict
174O-linkedHMM predict
178O-linkedHMM predict
217N-linkedHMM predict
220N-linkedHMM predict
341O-linkedHMM predict
362SulfotyrosineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004893
  • Location:chr5 134697969-134763475
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER Breast-CancerGSE22609 134773921 134774324 403 10647
ER Fulvestrant-MCF7GSE14664 134771227 134771263 36 7770
FoxA1 MCF7MACSdata 134767359 134767654 295 4031
Oct1 HelaGSE14283 134771222 134771259 37 7765
TFAP2C MCF7GSE21234 134767234 134767814 580 4049
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 134762491 134763254 763 0
p130 SenescentGSE19898 134762941 134763417 476 0
p130 shRbQuiescentGSE19898 134762962 134763582 620 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
21488 mRNA H2AFY chr5 134763040 134764880 139 mRNA H2AFY chr5 134697969 134763476Sense/Antisense (SA) pairs

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