AutismKB 2.0

Annotation Detail for GJB6


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Basic Information Top
Gene Symbol:GJB6 ( CX30,DFNA3,DFNA3B,DFNB1B,ED2,EDH,HED )
Gene Full Name: gap junction protein, beta 6, 30kDa
Band: 13q12.11
Quick LinksEntrez ID:10804; OMIM: 604418; Uniprot ID:CXB6_HUMAN; ENSEMBL ID: ENSG00000121742; HGNC ID: 4288
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_006783
  • Location:chr13 19694101-19703066
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 19703916 19704722 806 1253
CTCF G2GSE9613 19711559 19711979 420 8703
H3K27me3 colorectalcancer 19702804 19704132 1328 402
H3K27me3 colorectalcancer 19705905 19706602 697 3187
hScc1 BcellGSE12603 19703564 19703744 180 588
hScc1 BcellGSE12603 19704092 19704497 405 1228
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 19688346 19688373 27 5742
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K27me3 colorectalcancer 19701610 19702444 834 0
RUNX JurkatGSE17954 19701300 19701339 39 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-183 hsa-mir-183 7 20739942
hsa-miR-183* hsa-mir-183 7 20739942
No data
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