AutismKB 2.0

Annotation Details for SASH1


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Basic Information Top
Gene Symbol:SASH1 ( KIAA0790,RP3-323M4.1,SH3D6A,dJ323M4,dJ323M4.1 )
Gene Full Name: SAM and SH3 domain containing 1
Band: 6q24.3-q25.1
Quick LinksEntrez ID:23328; OMIM: 607955; Uniprot ID:SASH1_HUMAN; ENSEMBL ID: ENSG00000111961; HGNC ID: 19182
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0043234IMP-protein complex23776175
GO ID Evidence Qualifier GO_term References
GO:0008022IDA-protein C-terminus binding23776175
GO:0019901IDA-protein kinase binding23776175
GO:0031435IDA-mitogen-activated protein kinase kinase kinase binding23776175
GO:0032947IDA-protein complex scaffold23776175
GO ID Evidence Qualifier GO_term References
GO:0000209IDA-protein polyubiquitination23776175
GO:0010595IDA-positive regulation of endothelial cell migration23776175
GO:0031666IMP-positive regulation of lipopolysaccharide-mediated signaling pathway23776175
GO:0043507IMP-positive regulation of JUN kinase activity23776175
GO:0045766IMP-positive regulation of angiogenesis23776175
GO:1900044IDA-regulation of protein K63-linked ubiquitination23776175
GO:1900745IMP-positive regulation of p38MAPK cascade23776175
GO:1901224IMP-positive regulation of NIK/NF-kappaB signaling23776175
GO:1902498IDA-regulation of protein autoubiquitination23776175
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
SASH1SFN10907215778465 Affinity Capture-MS
SASH1SFN11691615778465 Affinity Capture-MS
SUV39H2SASH111691620084102 Co-crystal Structure
SUV39H2SASH112283820084102 Co-crystal Structure
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1917347
  • Data Attributes: HomoloGene calculated
No data
No data

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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