| Variant ID | 895 |
|---|---|
| Entrez Gene ID | 374462 |
| Gene | PTPRQ (GeneCards) |
| Location | hg19 12:80865910-80865910
hg38 12:80472131-80472131 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000012.11:g.80865910 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 184 |
| Amino acid changes in protein | D > N |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.6483 |
| CADD Raw score (version 1.3) | 6.324548 (Deleterious) |
| FATHMM raw prediction score | 0.99 (Tolerated) |
| MutationTaster score | 0.996 (Deleterious) |
| MetaSVM score | -0.635 (Tolerated) |
| MetaLR score | 0.333 (Tolerated) |
| MCAP score | 0.017 (Tolerated) |
| FitCons score | 0.556 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.62 |
| PhyloP score based on multiple alignment of 100 vertebrates | 6.678 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 20.038 |
| Deleterious probability by iFish2 | 0.1028 (Neutral) |
| Deleterious probability by DeFine | 0.9667 (Deleterious) |
| Entrez Gene ID | 374462 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PTPRQ (GeneCards) |
| Number of variants in PTPRQ in this database | 4 (view all the variants) |
| Full name | protein tyrosine phosphatase, receptor type Q |
| Band | 12q21.31 |
| Other IDs | Vega: OTTHUMG00000170171 OMIM: 603317 HGNC: HGNC:9679 Ensembl: ENSG00000139304 |
| Other names | DFNA73, DFNB84, DFNB84A, PTPGMC1, R-PTP-Q |
| Summary | This locus encodes a member of the type III receptor-like protein-tyrosine phosphatase family. The encoded protein catalyzes the dephosphorylation of phosphotyrosine and phosphatidylinositol and plays roles in cellular proliferation and differentiation. Mutations at this locus have been linked to autosomal recessive deafness. [provided by RefSeq, Mar 2014] |
| 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; |