AutismKB 2.0

Variant Details for ADAM6


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Basic Information Top
Gene Symbol:ADAM6 ( C14orf96,tMDCIV )
Gene Full Name: ADAM metallopeptidase domain 6 (pseudogene)
Band: 14q32.33
Quick LinksEntrez ID:8755; OMIM: NA; Uniprot ID:; ENSEMBL ID: ; HGNC ID: 213
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 11 0 1 0 0 0 12
CNVs/SVs Top
CNV ID Chr Band Start End Size Gain/Loss UCSC Browser Reference
AutCNV0000423 14 14q32.33 105983798 107289540 1305742 loss external link Gregory, 2009
AutCNV0000422 14 14q32.33 105779606 107289540 1509934 loss external link Gregory, 2009
AutCNV0003108 14 14q32.33 106995451 107287663 292212 gain external link Pinto, 2010
AutCNV0002857 14 14q32.33 106067618 106208107 140489 loss external link Pinto, 2010
AutCNV0002281 14 14q32.33 106228095 106317102 89007 loss external link Pinto, 2010
AutCNV0002280 14 14q32.33 105935379 106316932 381553 loss external link Pinto, 2010
AutCNV0001464 14 14q32.33 107172419 107287663 115244 gain external link Pinto, 2010
AutCNV0001446 14 14q32.33 107109026 107287663 178637 gain external link Pinto, 2010
AutCNV0003371 14 14q32.33 106926025 107188814 262789 loss external link Gai, 2011
AutCNV0003713 14 14q32.33 106926025 107188814 262789 loss external link Gai, 2011
AutCNV0003712 14 14q32.33 106926025 107122925 196900 loss external link Gai, 2011
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
14 106539261 G A mosaic PASM Dou Y, 2017
NGS Other Mutations Top
Chr Pos Ref Alt Coding AA Validated iFish Prediction iFish Probability Reference
No related data!
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