AutismKB 2.0

Annotation Detail for GJA8


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Basic Information Top
Gene Symbol:GJA8 ( CAE,CAE1,CX50,CZP1,MP70 )
Gene Full Name: gap junction protein, alpha 8, 50kDa
Band: 1q21.2
Quick LinksEntrez ID:2703; OMIM: 600897; Uniprot ID:CXA8_HUMAN; ENSEMBL ID: ENSG00000121634; HGNC ID: 4281
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
5Phosphoserine(IKK)HMM predict
108Phosphoserine(PKA)HMM predict
108Phosphoserine(CK2)HMM predict
138Phosphothreonine(PKC)HMM predict
319Phosphothreonine(PKC)HMM predict
357Phosphothreonine(CK2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005267
  • Location:chr1 145841559-145848016
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 145831422 145831820 398 9939
CTCF CD4SISSRdata 145831422 145831820 398 9939
CTCF G2GSE9613 145828983 145829430 447 12353
CTCF G2GSE9613 145830304 145831924 1620 10446
ER E2-MCF7GSE14664 145822982 145823014 32 18562
RARA MCF7GSE15244 145830694 145832548 1854 9939
TFAP2C MCF7GSE21234 145828712 145829484 772 12462
hScc1 BcellGSE12603 145828947 145829961 1014 12106
hScc1 BcellGSE12603 145830793 145831635 842 10346
hScc1 CdLSGSE12603 145828830 145829551 721 12369
hScc1 CdLSGSE12603 145830760 145831924 1164 10218
hScc1 G2GSE9613 145828555 145829315 760 12625
hScc1 G2GSE9613 145830723 145831852 1129 10272
No data
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