AutismKB 2.0

Annotation Detail for SHANK1


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Basic Information Top
Gene Symbol:SHANK1 ( SPANK-1,SSTRIP,synamon )
Gene Full Name: SH3 and multiple ankyrin repeat domains 1
Band: 19q13.33
Quick LinksEntrez ID:50944; OMIM: 604999; Uniprot ID:SHAN1_HUMAN; ENSEMBL ID: ENSG00000161681; HGNC ID: 15474
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
No data
No data
No data
Pathway IDPathway Name
P00037Ionotropic glutamate receptor pathway
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000643 Ammonium Chloride Ammonium Chloride affects the expression of SHANK1 mRNAaffects expression 16483693
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 4.6518287403
MESH:D001008 Anxiety Disorders marker/mechanism 18272690
MESH:D001321 Autistic Disorder marker/mechanism 18272690
MESH:D019957 Motor Skills Disorders marker/mechanism 20868654
Pathway ID Pathway Name
KEGG:04724 Glutamatergic synapse
Pharmacogenomics Knowledge Base Top
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  (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


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