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) |
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 |
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 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 |
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; |