AutismKB 2.0

Annotation Detail for KIAA1949


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Basic Information Top
Gene Symbol:KIAA1949 ( HKMT1098 )
Gene Full Name: KIAA1949
Band: 6p21.3
Quick LinksEntrez ID:170954; OMIM: 610990; Uniprot ID:PHTNS_HUMAN; ENSEMBL ID: ENSG00000146112; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
54Phosphoserine.
125Phosphoserine.
133Phosphoserine.
145Phosphoserine.
175Phosphoserine.
195Phosphoserine.
199Phosphothreonine.
224Phosphoserine.
265Phosphoserine.
368Phosphoserine.
432Phosphoserine.
530Phosphoserine.
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