AutismKB 2.0

Variant Details for SRBD1


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Basic Information Top
Gene Symbol:SRBD1 ( FLJ10379 )
Gene Full Name: S1 RNA binding domain 1
Band: 2p21
Quick LinksEntrez ID:55133; OMIM: NA; Uniprot ID:SRBD1_HUMAN; ENSEMBL ID: ENSG00000068784; HGNC ID: 25521
Relate to Another Database: SFARIGene; denovo-db
Variant Statistic Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default. Chromosome coordinates: hg19
Genetic Category CNVs/SVs de novo Mutations Mosaics SNVs NGS Other Mutations Low-Scale Gene Mutations Linkage Regions Total
Number 5 3 0 1 0 0 9
CNVs/SVs Top
CNV ID Chr Band Start End Size Gain/Loss UCSC Browser Reference
AutCNV0000203 2 2p21 45455649 45984917 529268 gain external link Christian, 2008
AutCNV0004042 2 2p21 45409416 45975653 566237 gain external link Levy, 2011
AutCNV0003481 2 2p21 45408269 45981426 573157 gain external link Gai, 2011
AutCNV0003480 2 2p21 45405049 45974136 569087 gain external link Gai, 2011
AutCNV0004732 9 loss Lionel AC, 2014
NGS de novo Mutations Top
iFish (integrated Functional inference of SNVs in human) is based on gene/gene family customized models to classify missense mutations.
Chr Pos Ref Alt Coding AA Validated Method iFish Prediction iFish Probability Reference
2 45789855 G R Sanger sequencing O'Roak BJ, 2012
2 45778322 T A Sanger sequencing deleterious0.5763 De Rubeis S, 2014
2 45778322 T A c.1617TTA>TTT p.539L>F deleterious0.5763 Fromer M, 2014
NGS Mosaic Mutations Top
Chr Position Ref Alt Genotype Validated Method Reference
No related data!
NGS Other Mutations Top
Chr Pos Ref Alt Coding AA Validated iFish Prediction iFish Probability Reference
2 45780792 T G L496R Toma C, 2014
Low-Scale Gene Mutations Top
Chr Pos Ref Alt Coding AA Validated iFish Prediction iFish Probability Reference
No related data!
Linkage Regions Top
Linkage Name Band Chr Marker LOD NPL P Value Reference
No related data!




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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