Variant ID | 927 |
---|---|
Entrez Gene ID | 374308 |
Gene | PTCHD3 (GeneCards) |
Location | hg19 10:27702651-27702651
hg38 10:27413722-27413722 |
Disease | Human Skin Fibroblasts (view all the variants in this disease) |
Method | HiSeq 2500 |
Mutation(HGVS format) | NC_000010.10:g.27702651 G>A (Genome Assembly: hg19) |
Exon or Intron | Exon |
---|---|
Position in protein | 177 |
Amino acid changes in protein | P > S |
Position in cDNA | NA |
Changes in cDNA | NA > NA |
mRNA accession | NA |
mRNA length | NA |
Reference length | 135534747 |
MAF in gnomAD genome (version 2.0.1) | 0 |
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EIGEN score | 0.2763 |
CADD Raw score (version 1.3) | 3.357462 (Deleterious) |
FATHMM raw prediction score | 0.66925 (Tolerated) |
SIFT score | 0.08 (Tolerated) |
LRT score | 0.04 (Tolerated) |
MutationTaster score | 0.974 (Deleterious) |
MutatioinAssessor score | 2.695 (Deleterious) |
PROVEAN score | -5.09 (Deleterious) |
MetaSVM score | 0.481 (Deleterious) |
MetaLR score | 0.713 (Deleterious) |
MCAP score | 0.081 (Deleterious) |
FitCons score | 0.556 (Highly Significant p < 0.003 ) |
Genomic Evolutionary Rate Profiling (GERP) score | 3.77 |
PhyloP score based on multiple alignment of 100 vertebrates | 3.369 |
PhastCons score based on multiple alignment of 100 vertebrates | 1 |
SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 13.95 |
Deleterious probability by iFish2 | 0.7443 (Deleterious) |
Deleterious probability by DeFine | 0.9536 (Deleterious) |
Entrez Gene ID | 374308 (NCBI Gene) |
---|---|
Official Gene Symbol | PTCHD3 (GeneCards) |
Number of variants in PTCHD3 in this database | 3 (view all the variants) |
Full name | patched domain containing 3 |
Band | 10p12.1 |
Other IDs | Vega: OTTHUMG00000017860 OMIM: 611791 HGNC: HGNC:24776 Ensembl: ENSG00000182077 |
Other names | PTR |
Summary | None |
Individual ID | 27788131.02 (view all the variants in this individual) |
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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; |