AutismKB 2.0

Annotation Detail for POTEH


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Basic Information Top
Gene Symbol:POTEH ( A26C3,ACTBL1,CT104.7,POTE22 )
Gene Full Name: POTE ankyrin domain family, member H
Band: 22q11.1
Quick LinksEntrez ID:23784; OMIM: 608913; Uniprot ID:POTEH_HUMAN; ENSEMBL ID: ENSG00000198062; HGNC ID: 133
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
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
7577 mRNA ACTBL1 chr14 18623364 18654830 138 mRNA chr14 18633121 18636680Sense/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