TET1

Dioxygenase that plays a key role in active DNA demethylation, by catalysing the sequential oxidation of the modified genomic base 5-methylcytosine (5mC) into 5-hydroxymethylcytosine (5hmC), 5-formylcytosine (5fC), and 5-carboxylcytosine (5caC). In addition to its role in DNA demethylation, plays a more general role in chromatin regulation by recruiting histone modifying protein complexes to alter histone marks and chromatin accessibility, leading to both activation and repression of gene expression. Plays therefore a role in many biological processes, including stem cell maintenance, T- and B-cell development, inflammation regulation, genomic imprinting, neural activity or DNA repair.

CIViC holds 1 clinical evidence item and 0 assertions across 2 variants, naming Immune Checkpoint Inhibitor. Open Targets scores its association with cancer at 0.69 (direct and indirect evidence; datatypes literature 0.99, animal model 0.32, genetic association 0.00, somatic mutation 0.89). IntOGen calls it a driver in 8 cohorts (1 activating, 7 loss-of-function), covering Colon Adenocarcinoma, Glioblastoma Multiforme, Hepatocellular Carcinoma, Medulloblastoma, Mixed Germ Cell Tumour, Nasopharyngeal Carcinoma and others.