AutismKB 2.0

Annotation Detail for KCNV1


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Basic Information Top
Gene Symbol:KCNV1 ( HNKA,KCNB3,KV2.3,KV8.1 )
Gene Full Name: potassium channel, subfamily V, member 1
Band: 8q23.2
Quick LinksEntrez ID:27012; OMIM: 608164; Uniprot ID:KCNV1_HUMAN; ENSEMBL ID: ENSG00000164794; HGNC ID: 18861
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
397Selectivity filter (By similarity).
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014379
  • Location:chr8 111048408-111056134
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 111055515 111057035 1520 141
Sox2 hESGSE18292 111069448 111069706 258 13443
TFAP2C MCF7GSE21234 111056784 111057424 640 970
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Sox2 hESGSE18292 111035159 111035362 203 13148
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 BcellGSE12603 111055654 111056137 483 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