AutismKB 2.0

Variant Details for ADNP


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:ADNP ( ADNP1,KIAA0784 )
Gene Full Name: activity-dependent neuroprotector homeobox
Band: 20q13.13
Quick LinksEntrez ID:23394; OMIM: 611386; Uniprot ID:ADNP_HUMAN; ENSEMBL ID: ENSG00000101126; HGNC ID: 15766
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 0 22 0 14 0 0 36
CNVs/SVs Top
CNV ID Chr Band Start End Size Gain/Loss UCSC Browser Reference
No related data!
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 49510027 * 2D, -TT Sanger sequencing O'Roak BJ, 2012
20 49510027 * -TT/* p.Lys408ValfsX31 Sanger sequencing O'Roak BJ, 2012
20 49509094 * +T/* p.Tyr719Unk Sanger sequencing O'Roak BJ, 2012
20 49508382 CCTCA C Sanger sequencing De Rubeis S, 2014
20 49510602 CTCGGGCAT C Sanger sequencing De Rubeis S, 2014
20 49510224 C CA c.1026dupT p.Val343CysfsTer56 PCR and Sanger sequencing O'Roak BJ, 2014
20 49510213 TGAC - Sanger sequencing Yuen RK, 2016
20 49510619 A A/T c.632T>A p.Leu211* Sanger sequencing Wang T, 2016
20 49508151 C C/T Sanger sequencing Wang T, 2016
20 49508081 A T c.3170T>A p.Leu1057Ter Stessman HA, 2017
20 49508178 CTG c.3066_3072delCAGAGAGinsCAG p.Arg1023SerfsTer3 Stessman HA, 2017
20 49508751 TTTAA c.2491_2499delTTAAATAAAinsTTAAA p.Asn832LysfsTer81 Stessman HA, 2017
20 49508756 T c.2490_2494delATTAAinsA p.Leu831IlefsTer82 Stessman HA, 2017
20 49509038 G C c.2213C>G p.Ser738Ter Stessman HA, 2017
20 49510578 G A c.673C>T p.Arg225Ter Stessman HA, 2017
20 49508080 A T HiSeq X and Sanger C Yuen RK, 2017
20 49510211 TTGACTGAC TTGAC HiSeq X and Sanger C Yuen RK, 2017
20 49510211 TTGAC T HiSeq X and Sanger C Yuen RK, 2017
20 49508751 CTTTATTTA CTTTA Deciphering Developmental , 2015
20 49509094 G GT c.2156dupA p.Tyr719Ter Y O'Roak BJ, 2014
20 50075687 p.Tyr719X O'Roak BJ, 2012
20 50076620 p.Lys408ValfsX31 O'Roak BJ, 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
20 50074564 * +GG/* p.Gly1094ProfsX5 O'Roak BJ, 2012
20 49508035 Iossifov I, 2015
20 49507972 GG Iossifov I, 2015
20 49507974 C C/T Y Wang T, 2016
20 49510010 T A/T Y Wang T, 2016
20 49508156 G C/G Y Wang T, 2016
20 49508079 A A/G Y Wang T, 2016
20 49508436 T G/T Y Wang T, 2016
20 49508199 T C/T Y Wang T, 2016
20 49508283 C C/T Y Wang T, 2016
20 49508291 T C/T Y Wang T, 2016
20 49508976 G A/G Y Wang T, 2016
20 49510040 G A/G Y Wang T, 2016
T443A Y Alvarez-Mora MI, 2016
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!




Simple Query:


  (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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved