| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 54386 |
Name | TERF2IP |
Synonymous | telomeric repeat binding factor 2, interacting protein;TERF2IP;telomeric repeat binding factor 2, interacting protein |
Definition | RAP1 homolog|TERF2-interacting telomeric protein 1|TRF2-interacting telomeric RAP1 protein|TRF2-interacting telomeric protein 1|dopamine receptor interacting protein 5|dopamine receptor-interacting protein 5|hRap1|repressor/activator protein 1 homolog|tel |
Position | 16q23.1 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1052C>T; p.A351V; 16:75656463-75656463 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1082T>C; p.I361T; 16:75656493-75656493 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.139C>T; p.L47L; 16:75648021-75648021 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.812C>T; p.P271L; 16:75656223-75656223 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.311C>T; p.A104V; 16:75648193-75648193 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.211C>T; p.L71L; 16:75648093-75648093 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1189C>T; p.R397*; 16:75656600-75656600 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Nonsense |
c.247T>C; p.Y83H; 16:75648129-75648129 |
pancreas | carcinoma | Substitution - Missense |
c.839G>A; p.C280Y; 16:75656250-75656250 |
breast | carcinoma | Substitution - Missense |
c.10G>A; p.A4T; 16:75647892-75647892 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.109C>A; p.P37T; 16:75647991-75647991 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.109C>A; p.P37T; 16:75647991-75647991 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.1102A>T; p.I368L; 16:75656513-75656513 |
liver | carcinoma | Substitution - Missense |
c.93C>G; p.F31L; 16:75647975-75647975 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1097A>G; p.D366G; 16:75656508-75656508 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.904G>T; p.E302*; 16:75656315-75656315 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1194G>T; p.K398N; 16:75656605-75656605 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.795+1G>A; p.?; 16:75654398-75654398 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.1090C>A; p.R364R; 16:75656501-75656501 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.64G>T; p.V22L; 16:75647946-75647946 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1037C>T; p.T346I; 16:75656448-75656448 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.81C>G; p.S27R; 16:75647963-75647963 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.362G>T; p.G121V; 16:75648244-75648244 |
pancreas | carcinoma | Substitution - Missense |
c.1174C>T; p.R392W; 16:75656585-75656585 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.697T>C; p.L233L; 16:75654299-75654299 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.895_897delGAA; p.E304delE; 16:75656306-75656308 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Deletion - In frame |
c.895_897delGAA; p.E304delE; 16:75656306-75656308 |
breast | carcinoma | Deletion - In frame |
c.134T>C; p.L45P; 16:75648016-75648016 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1139C>A; p.A380E; 16:75656550-75656550 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.1096G>A; p.D366N; 16:75656507-75656507 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.673C>T; p.P225S; 16:75654275-75654275 |
skin | malignant_melanoma | Substitution - Missense |
c.841G>A; p.D281N; 16:75656252-75656252 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1150A>C; p.K384Q; 16:75656561-75656561 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1142T>C; p.L381S; 16:75656553-75656553 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.950T>C; p.I317T; 16:75656361-75656361 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.915A>C; p.K305N; 16:75656326-75656326 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.713A>T; p.Y238F; 16:75654315-75654315 |
thyroid | other; neoplasm | Substitution - Missense |
c.922C>G; p.Q308E; 16:75656333-75656333 |
breast | carcinoma | Substitution - Missense |
c.1053G>A; p.A351A; 16:75656464-75656464 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.709G>T; p.E237*; 16:75654311-75654311 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Nonsense |
c.985C>A; p.L329I; 16:75656396-75656396 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1190G>A; p.R397Q; 16:75656601-75656601 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1190G>A; p.R397Q; 16:75656601-75656601 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.832A>G; p.T278A; 16:75656243-75656243 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1036A>G; p.T346A; 16:75656447-75656447 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.824T>A; p.I275K; 16:75656235-75656235 |
skin | malignant_melanoma | Substitution - Missense |
c.81C>A; p.S27R; 16:75647963-75647963 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |