Variant Details for PABPC1

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Basic Information Top

Gene Symbol:	PABPC1 ( PAB1,PABP,PABP1,PABPC2,PABPL1 )
Gene Full Name:	poly(A) binding protein, cytoplasmic 1
Band:	8q22.3
Quick Links	Entrez ID:26986; OMIM: 604679; Uniprot ID:PABP1_HUMAN; ENSEMBL ID: ENSG00000070756; HGNC ID: 8554
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	1	1	0	0	0	2

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
8	101730092	T	C			Sanger sequencing	neutral	0.4201	De Rubeis S, 2014

NGS Mosaic Mutations Top

Chr	Position	Ref	Alt	Genotype	Validated Method	Reference
8	101719145	C	T	Mosaic		Krupp DR, 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!

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 PABPC1

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics