AutismKB 2.0

Variant Details for PTCHD1


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Basic Information Top
Gene Symbol:PTCHD1 ( FLJ30296,MGC149798 )
Gene Full Name: patched domain containing 1
Band: Xp22.11
Quick LinksEntrez ID:139411; OMIM: NA; Uniprot ID:PTHD1_HUMAN; ENSEMBL ID: ENSG00000165186; HGNC ID: 26392
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 19 0 0 1 3 0 23
CNVs/SVs Top
CNV ID Chr Band Start End Size Gain/Loss UCSC Browser Reference
AutCNV0000961 X Xp22.11 23206267 23370707 164440 loss external link Pinto, 2010
AutCNV0000671 X Xp22.1-p22.3 6644160 24159444 17515284 loss external link Vazna, 2010
AutCNV0000713 X Xp11.2-p22.33 60000 56583275 56523275 gain external link Edens, 2011
AutCNV0005068 X 23237006 23383352 146346 loss external link Chaudhry A, 2015
AutCNV0005067 X 22561238 23362476 801238 loss external link Chaudhry A, 2015
AutCNV0005077 X 22395639 23358413 962774 loss external link Chaudhry A, 2015
AutCNV0005066 X 23273223 23470504 197281 loss external link Chaudhry A, 2015
AutCNV0005076 X 23196328 23525343 329015 loss external link Chaudhry A, 2015
AutCNV0005065 X 154772341 154775951 3610 loss external link Addis L, 2015
AutCNV0005075 X 22686771 23354655 667884 loss external link Chaudhry A, 2015
AutCNV0005074 X 23164422 23576232 411810 loss external link Chaudhry A, 2015
AutCNV0005073 X 23331184 23604246 273062 loss external link Chaudhry A, 2015
AutCNV0005072 X 22960743 23463337 502594 loss external link Chaudhry A, 2015
AutCNV0005071 X 23204258 23371802 167544 loss external link Chaudhry A, 2015
AutCNV0005070 X 23329087 23419289 90202 loss external link Chaudhry A, 2015
AutCNV0005069 X 23110934 23411163 300229 loss external link Chaudhry A, 2015
AutCNV0005744 X loss C Yuen RK, 2017
AutCNV0005748 X loss C Yuen RK, 2017
AutCNV0005745 X loss C Yuen RK, 2017
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
No related data!
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
X 23318898 T G Doan RN, 2016
Low-Scale Gene Mutations Top
Chr Pos Ref Alt Coding AA Validated iFish Prediction iFish Probability Reference
X c.2128delC p.L710Cfs*12 Chaudhry A, 2015
X c.1796dupA p.N599Kfs*8 Chaudhry A, 2015
X c.1444delC p.L482Yfs*14 Chaudhry A, 2015
Linkage Regions Top
Linkage Name Band Chr Marker LOD NPL P Value Reference
No related 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


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