AutismKB 2.0

Annotation Detail for OBSL1


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Basic Information Top
Gene Symbol:OBSL1 ( KIAA0657,MGC71026 )
Gene Full Name: obscurin-like 1
Band: 2q35
Quick LinksEntrez ID:23363; OMIM: 610991; Uniprot ID:A4KVA4_HUMAN; ENSEMBL ID: ENSG00000124006; HGNC ID: 29092
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
15691 EST chr2 220259388 220265280 2128 mRNA KIAA0657 chr2 220251949 220261516 Non-exonic Bidirectional (NOB) 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