Overview

Variant ID 933
Entrez Gene ID 399968
Gene PATE4 (GeneCards)
Location hg19 11:125707767-125707767
hg38 11:125837872-125837872
Disease Human Skin Fibroblasts (view all the variants in this disease)
Method HiSeq 2500
Mutation(HGVS format) NC_000011.9:g.125707767 G>A (Genome Assembly: hg19)

Other information

Exon or Intron Exon
Position in protein 21
Amino acid changes in protein M > I
Position in cDNA NA
Changes in cDNA NA > NA
mRNA accession NA
mRNA length NA
Reference length 135006516

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -1.3496
CADD Raw score (version 1.3) -0.247183 (Deleterious)
FATHMM raw prediction score 0.00094 (Tolerated)
SIFT score 0.58 (Tolerated)
MutationTaster score 1 (Tolerated)
PROVEAN score -0.56 (Tolerated)
MetaSVM score -0.96 (Tolerated)
MetaLR score 0.018 (Tolerated)
MCAP score 0.001 (Tolerated)
FitCons score 0.487 (Highly Significant p < 0.003 )
Genomic Evolutionary Rate Profiling (GERP) score -2.03
PhyloP score based on multiple alignment of 100 vertebrates -0.131
PhastCons score based on multiple alignment of 100 vertebrates 0.003
SiPhy log transformed odds ratio on multiple alignment of 29 mammals 4.925
Deleterious probability by iFish2 0.0069 (Neutral)
Deleterious probability by DeFine 0.2029 (Neutral)
Entrez Gene ID 399968 (NCBI Gene)
Official Gene Symbol PATE4 (GeneCards)
Number of variants in PATE4 in this database 1 (view all the variants)
Full name prostate and testis expressed 4
Band 11q24.2
Other IDs Vega: OTTHUMG00000165235
HGNC: HGNC:35427
Ensembl: ENSG00000237353
Other names PATE-B
Summary None

Individual #1

Individual ID 27788131.02 (view all the variants in this individual)
Pubmed ID 27788131
Whose mosaic mutation Normal  
Phenotype 1  
Disease Human Skin Fibroblasts (view all the variants in this disease)
OMIM ID 120353

Publication #1: 27788131

Pubmed ID 27788131
Title The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts.
Journal PLoS Genetics
Publication date 2016.10
Disease Human Skin Fibroblasts
Population Caucasian
Number of cases Male cases: 2;