AutismKB 2.0

Evidence Details for FAM183B


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Basic Information Top
Gene Symbol:FAM183B ( - )
Gene Full Name: family with sequence similarity 183, member B
Band: 7p14.1
Quick LinksEntrez ID:340286; OMIM: NA; Uniprot ID:; ENSEMBL ID: ENSG00000164556; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 1 (1) 1 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 4 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Wolpert, 2001 - FISHautism - - - - 1 - 1
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Allen-Brady, 2008 - SNP-based genomic screenASD 1 - 1 - 7 22 29
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
Reference Case Number Family Number Mosaic Number Title
Lim ET, 2017 - 5947 376 Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
NGS Other Studies Top
Low Scale Gene Studies 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