| Variant ID | 909 |
|---|---|
| Entrez Gene ID | 58155 |
| Gene | PTBP2 (GeneCards) |
| Location | hg19 1:97278901-97278901
hg38 1:96813345-96813345 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000001.10:g.97278901 T>C (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 529 |
| Amino acid changes in protein | H > H |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.4931 |
| CADD Raw score (version 1.3) | -1.171254 (Deleterious) |
| FATHMM raw prediction score | 0.98274 (Tolerated) |
| Deleterious probability by DeFine | 0.8965 (Deleterious) |
| Entrez Gene ID | 58155 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PTBP2 (GeneCards) |
| Number of variants in PTBP2 in this database | 6 (view all the variants) |
| Full name | polypyrimidine tract binding protein 2 |
| Band | 1p21.3 |
| Other IDs | Vega: OTTHUMG00000010685 OMIM: 608449 HGNC: HGNC:17662 Ensembl: ENSG00000117569 |
| Other names | nPTB, PTBLP, brPTB |
| Summary | The protein encoded by this gene binds to intronic polypyrimidine clusters in pre-mRNA molecules and is implicated in controlling the assembly of other splicing-regulatory proteins. This protein is very similar to the polypyrimidine tract binding protein (PTB) but most of its isoforms are expressed primarily in the brain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 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; |