| Variant ID | 11682 |
|---|---|
| Entrez Gene ID | 5747 |
| Gene | PTK2 (GeneCards) |
| Location | hg19 8:141693390-141693390
hg38 8:140683291-140683291 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000008.10:g.141693390 G>A (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| 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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3069 |
| CADD Raw score (version 1.3) | 0.063555 (Deleterious) |
| FATHMM raw prediction score | 0.07697 (Tolerated) |
| Deleterious probability by DeFine | 0.0839 (Neutral) |
| Entrez Gene ID | 5747 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PTK2 (GeneCards) |
| Number of variants in PTK2 in this database | 3 (view all the variants) |
| Full name | protein tyrosine kinase 2 |
| Band | 8q24.3 |
| Other IDs | Vega: OTTHUMG00000067438 OMIM: 600758 HGNC: HGNC:9611 Ensembl: ENSG00000169398 |
| Other names | FAK, FADK, FAK1, FRNK, PPP1R71, p125FAK, pp125FAK |
| Summary | This gene encodes a cytoplasmic protein tyrosine kinase which is found concentrated in the focal adhesions that form between cells growing in the presence of extracellular matrix constituents. The encoded protein is a member of the FAK subfamily of protein tyrosine kinases but lacks significant sequence similarity to kinases from other subfamilies. Activation of this gene may be an important early step in cell growth and intracellular signal transduction pathways triggered in response to certain neural peptides or to cell interactions with the extracellular matrix. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2017] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |