AutismKB 2.0

Variant Details for ANKRD11


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Basic Information Top
Gene Symbol:ANKRD11 ( ANCO-1,ANCO1,LZ16,T13 )
Gene Full Name: ankyrin repeat domain 11
Band: 16q24.3
Quick LinksEntrez ID:29123; OMIM: 611192; Uniprot ID:ANR11_HUMAN; ENSEMBL ID: ENSG00000167522; HGNC ID: 21316
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 9 4 0 3 11 0 27
CNVs/SVs Top
CNV ID Chr Band Start End Size Gain/Loss UCSC Browser Reference
AutCNV0000153 16 16q24.3 89273092 89538759 265667 loss external link Marshall, 2008
AutCNV0000695 16 16q24.3 88672499 90294753 1622254 gain external link Berkel, 2010
AutCNV0000685 16 16q24.2-24.3 88232499 89362499 1130000 loss external link Willemsen, 2010
AutCNV0000684 16 16q24.2-24.3 87502499 89602499 2100000 loss external link Willemsen, 2010
AutCNV0000683 16 16q24.3 89272499 89532499 260000 loss external link Willemsen, 2010
AutCNV0004358 16 16q24.3 89273092 89538759 265667 loss external link Sanders, 2011
AutCNV0005767 16 gain C Yuen RK, 2017
AutCNV0005766 16 gain C Yuen RK, 2017
AutCNV0005765 16 gain 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
16 89350771 CTTTG C PCR amplification and Sanger s Dong S, 2014
16 89341340 T G c.7595A>C p.Gln2532Pro Sanger sequencing deleterious0.9304 Takata A, 2018
0 c.6472G>T p.Glu2158Ter Bowling KM, 2017
16 89349242 CTGTTT CT Deciphering Developmental , 2015
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
16 89346082 C T p.P2290S Y Brett M, 2014
16 89351565 p.T461R Y Butler MG, 2015
16 89459723 T - Doan RN, 2016
Low-Scale Gene Mutations Top
Chr Pos Ref Alt Coding AA Validated iFish Prediction iFish Probability Reference
16 c.7481dup p.Pro2495fs Y Ockeloen CW, 2015
16 c.4391_4392del p.Lys1464fs Y Ockeloen CW, 2015
16 c.6184del p.Leu2062fs Y Ockeloen CW, 2015
16 c.3123_3126del p.Ile1042fs Y Ockeloen CW, 2015
16 c.1460_1463del p.Glu487fs Y Ockeloen CW, 2015
16 c.1903_1907del p.Lys635fs Y Ockeloen CW, 2015
16 c.3832A>T p.Lys1278a Y Ockeloen CW, 2015
16 c.2751dup p.Glu918a Y Ockeloen CW, 2015
16 c.3382_3383del p.Asp1128fs Y Ockeloen CW, 2015
16 c.6513dup p.Gly2172fs Y Ockeloen CW, 2015
16 c.1318C>T p.Arg440a Y Ockeloen CW, 2015
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


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