Variant ID | 22880 |
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Entrez Gene ID | 7006 |
Gene | TEC (GeneCards) |
Location | hg19 4:48296333-48296333
hg38 4:48294316-48294316 |
Disease | Asymptomatic |
Method | Single cell Sequencing Cell cloning |
Mutation(HGVS format) | NC_000004.11:g.48296333 C>G (Genome Assembly: GRCh37) |
Exon or Intron | NA |
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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 |
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EIGEN score | -0.0665 |
CADD Raw score (version 1.3) | 0.432166 (Deleterious) |
FATHMM raw prediction score | 0.11128 (Tolerated) |
Deleterious probability by DeFine | 0.2798 (Neutral) |
Entrez Gene ID | 7006 (NCBI Gene) |
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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 | 29217587.01 (view all the variants in this individual) |
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Pubmed ID | 29217587 |
Whose mosaic mutation | Normal |
Phenotype | 1 |
Disease | Asymptomatic |
OMIM ID |
Pubmed ID | 29217587 |
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Title | Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis. |
Journal | Science |
Publication date | 2018.02 |
Disease | Asymptomatic |
Number of cases | cases of unknown sex: 3; |