AutismKB 2.0

Annotation Detail for KIAA1543


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Basic Information Top
Gene Symbol:KIAA1543 ( NEZHA )
Gene Full Name: KIAA1543
Band: 19p13.2
Quick LinksEntrez ID:57662; OMIM: 612685; Uniprot ID:CAMP3_HUMAN; ENSEMBL ID: ENSG00000076826; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
184Phosphothreonine.
193Phosphoserine.
334Phosphoserine.
341Phosphoserine.
347Phosphoserine.
349Phosphoserine.
351Phosphoserine.
363Phosphoserine.
368Phosphoserine.
554Phosphoserine.
560Phosphoserine.
685Phosphoserine.
769Phosphoserine.
799Phosphothreonine.
1074Phosphoserine.
1080Phosphoserine (By similarity).
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
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