| Variant ID | 1111 |
|---|---|
| Entrez Gene ID | 65217 |
| Gene | PCDH15 (GeneCards) |
| Location | hg19 10:55568988-55568988
hg38 10:53809228-53809228 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000010.10:g.55568988 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| 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 |
|---|---|
| EIGEN score | -0.1295 |
| CADD Raw score (version 1.3) | 4.270582 (Deleterious) |
| FATHMM raw prediction score | 0.82561 (Tolerated) |
| SIFT score | 0.007 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| PROVEAN score | -0.48 (Tolerated) |
| MetaSVM score | -0.853 (Tolerated) |
| MetaLR score | 0.151 (Tolerated) |
| MCAP score | 0.024 (Tolerated) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.72 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.867 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.397 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.089 |
| Deleterious probability by DeFine | 0.88 (Deleterious) |
| Entrez Gene ID | 65217 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PCDH15 (GeneCards) |
| Number of variants in PCDH15 in this database | 28 (view all the variants) |
| Full name | protocadherin related 15 |
| Band | 10q21.1 |
| Other IDs | Vega: OTTHUMG00000018259 OMIM: 605514 HGNC: HGNC:14674 Ensembl: ENSG00000150275 |
| Other names | USH1F, CDHR15, DFNB23 |
| Summary | This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. It plays an essential role in maintenance of normal retinal and cochlear function. Mutations in this gene result in hearing loss and Usher Syndrome Type IF (USH1F). Extensive alternative splicing resulting in multiple isoforms has been observed in the mouse ortholog. Similar alternatively spliced transcripts are inferred to occur in human, and additional variants are likely to occur. [provided by RefSeq, Dec 2008] |
| 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; |