AutismKB 2.0

Variant Details for MACROD2


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Basic Information Top
Gene Symbol:MACROD2 ( C20orf133 )
Gene Full Name: MACRO domain containing 2
Band: 20p12.1
Quick LinksEntrez ID:140733; OMIM: 611567; Uniprot ID:MACD2_HUMAN; ENSEMBL ID: ENSG00000172264; HGNC ID: 16126
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 22 1 0 0 0 0 23
CNVs/SVs Top
CNV ID Chr Band Start End Size Gain/Loss UCSC Browser Reference
AutCNV0000650 20 20p12.1 14522254 14854022 331768 loss external link Gregory, 2009
AutCNV0002184 20 20p12.1 14862972 14981959 118987 loss external link Pinto, 2010
AutCNV0001364 20 20p12.1 14848659 14981959 133300 loss external link Pinto, 2010
AutCNV0000968 20 20p12.1 14597734 15000785 403051 loss external link Pinto, 2010
AutCNV0000796 20 20p12.1 15000785 15213293 212508 loss external link Pinto, 2010
AutCNV0002988 20 20p12.1 14884301 14914578 30277 loss external link Pinto, 2010
AutCNV0000764 20 20p12.1 14872313 14931494 59181 loss external link Pinto, 2010
AutCNV0002987 20 20p12.1 14729891 14905859 175968 loss external link Pinto, 2010
AutCNV0000758 20 20p12.1 14830453 14940687 110234 loss external link Pinto, 2010
AutCNV0002986 20 20p12.1 14723009 14981959 258950 loss external link Pinto, 2010
AutCNV0002985 20 20p12.1 14696882 14743905 47023 loss external link Pinto, 2010
AutCNV0002984 20 20p12.1 14685347 14872313 186966 loss external link Pinto, 2010
AutCNV0002292 20 20p12.1 14742830 14807599 64769 loss external link Pinto, 2010
AutCNV0002185 20 20p12.1 14880327 14940687 60360 loss external link Pinto, 2010
AutCNV0003762 20 20p12.1 14706616 14764611 57995 loss external link Gai, 2011
AutCNV0003761 20 20p12.1 14697386 14764611 67225 loss external link Gai, 2011
AutCNV0003425 20 20p12.1 15037615 15071428 33813 loss external link Gai, 2011
AutCNV0003424 20 20p12.1 14781684 14837965 56281 loss external link Gai, 2011
AutCNV0004377 20 20p12.1 14668243 14803454 135211 loss external link Sanders, 2011
AutCNV0004376 20 20p12.1 14597734 15000785 403051 loss external link Sanders, 2011
AutCNV0003764 20 20p12.1 14965823 15077030 111207 loss external link Gai, 2011
AutCNV0003763 20 20p12.1 14777701 14867422 89721 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
20 15567973 C T Sanger Michaelson JJ, 2012
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
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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  (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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