Variant Details for PAX6

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Basic Information Top

Gene Symbol:	PAX6 ( AN,AN2,D11S812E,MGC17209,MGDA,WAGR )
Gene Full Name:	paired box 6
Band:	11p13
Quick Links	Entrez ID:5080; OMIM: 607108; Uniprot ID:PAX6_HUMAN; ENSEMBL ID: ENSG00000007372; HGNC ID: 8620
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	1	0	0	0	2	1	4

CNVs/SVs Top

CNV ID	Chr	Band	Start	End	Size	Gain/Loss	UCSC Browser	Reference
AutCNV0005100	11	11q24.3q25				gain		Maruani A, 2015

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
No related data!

Low-Scale Gene Mutations Top

Chr	Pos	Ref	Alt	Coding	AA	Validated	iFish Prediction	iFish Probability	Reference
									Davis, 2008
									Maekawa, 2009

Linkage Regions Top

Linkage Name	Band	Chr	Marker	LOD	NPL	P Value	Reference
AutLD0000015	11p11.2-13	11	D11S1392/D11S1993	2.24	-	-	Yonan, 2003

Simple Query:

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

AutismKB 2.0

Variant Details for PAX6

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics