| Variant ID | 7370 |
|---|---|
| Entrez Gene ID | 7006 |
| Gene | TEC (GeneCards) |
| Location | hg19 4:48211742-48211742
hg38 4:48209725-48209725 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000004.11:g.48211742 T>C (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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0456 |
| CADD Raw score (version 1.3) | 1.752184 (Deleterious) |
| FATHMM raw prediction score | 0.07723 (Tolerated) |
| Deleterious probability by DeFine | 0.2277 (Neutral) |
| Entrez Gene ID | 7006 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TEC (GeneCards) |
| Number of variants in TEC in this database | 3 (view all the variants) |
| Full name | tec protein tyrosine kinase |
| Band | 4p12-p11 |
| Other IDs | Vega: OTTHUMG00000128623 OMIM: 600583 HGNC: HGNC:11719 Ensembl: ENSG00000135605 |
| Other names | PSCTK4 |
| Summary | The protein encoded by this gene belongs to the Tec family of non-receptor protein-tyrosine kinases containing a pleckstrin homology domain. Tec family kinases are involved in the intracellular signaling mechanisms of cytokine receptors, lymphocyte surface antigens, heterotrimeric G-protein coupled receptors, and integrin molecules. They are also key players in the regulation of the immune functions. Tec kinase is an integral component of T cell signaling and has a distinct role in T cell activation. This gene may be associated with myelodysplastic syndrome. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |