| Gene information | Literature | Expression | lncRNA | Mutation | Homolog |
Basic Information | |
|---|---|
Gene ID | 7849 |
Name | PAX8 |
Synonymous | paired box 8;PAX8;paired box 8 |
Definition | paired box protein Pax-8|paired domain gene 8 |
Position | 2q13 |
Gene Type | protein-coding |
COSMIC confirmed somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.759C>T; p.S253S; 2:113241569-113241569 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1049C>T; p.S350F; 2:113235432-113235432 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.962C>A; p.P321H; 2:113235519-113235519 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.253A>C; p.T85P; 2:113244563-113244563 |
breast | carcinoma | Substitution - Missense |
c.997C>T; p.Q333*; 2:113235484-113235484 |
breast | carcinoma | Substitution - Nonsense |
c.789G>A; p.P263P; 2:113236710-113236710 |
breast | carcinoma | Substitution - coding silent |
c.1277-4C>T; p.?; 2:113218613-113218613 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Unknown |
c.192G>T; p.R64S; 2:113244624-113244624 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.656C>A; p.P219H; 2:113241672-113241672 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.656C>A; p.P219H; 2:113241672-113241672 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.640A>C; p.S214R; 2:113241688-113241688 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1116C>T; p.P372P; 2:113227228-113227228 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1243G>A; p.E415K; 2:113220125-113220125 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.457C>A; p.L153M; 2:113242711-113242711 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.246G>T; p.K82N; 2:113244570-113244570 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.78G>A; p.L26L; 2:113246867-113246867 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.318G>T; p.E106D; 2:113244498-113244498 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.199G>A; p.E67K; 2:113244617-113244617 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.578G>T; p.S193I; 2:113242031-113242031 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1181T>C; p.M394T; 2:113227163-113227163 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.249G>A; p.V83V; 2:113244567-113244567 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.481C>T; p.P161S; 2:113242128-113242128 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.380C>T; p.S127F; 2:113244436-113244436 |
kidney | carcinoma; renal_cell_carcinoma | Substitution - Missense |
c.652G>A; p.G218R; 2:113241676-113241676 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1012G>A; p.G338R; 2:113235469-113235469 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.860G>A; p.R287H; 2:113236639-113236639 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.538T>C; p.Y180H; 2:113242071-113242071 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.761A>G; p.H254R; 2:113241567-113241567 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1317A>G; p.A439A; 2:113218569-113218569 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1121A>G; p.Y374C; 2:113227223-113227223 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1090C>T; p.R364*; 2:113227254-113227254 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.708C>T; p.L236L; 2:113241620-113241620 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.989delT; p.L330fs*96; 2:113235492-113235492 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1051G>A; p.V351M; 2:113235430-113235430 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.816C>T; p.D272D; 2:113236683-113236683 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1150G>A; p.G384S; 2:113227194-113227194 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.619C>A; p.R207R; 2:113241709-113241709 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1150G>A; p.G384S; 2:113227194-113227194 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.695A>C; p.H232P; 2:113241633-113241633 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.789G>A; p.P263P; 2:113236710-113236710 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.788C>T; p.P263L; 2:113236711-113236711 |
liver | carcinoma | Substitution - Missense |
c.720T>G; p.F240L; 2:113241608-113241608 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.73C>T; p.P25S; 2:113246872-113246872 |
liver | carcinoma | Substitution - Missense |
c.491C>A; p.A164D; 2:113242118-113242118 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.920T>C; p.I307T; 2:113235561-113235561 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.135C>A; p.C45*; 2:113246810-113246810 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.993T>A; p.D331E; 2:113235488-113235488 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.516G>C; p.Q172H; 2:113242093-113242093 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.369C>G; p.P123P; 2:113244447-113244447 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.656C>A; p.P219H; 2:113241672-113241672 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.985T>A; p.F329I; 2:113235496-113235496 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.364G>T; p.V122L; 2:113244452-113244452 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1047C>G; p.A349A; 2:113235434-113235434 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1235C>T; p.S412F; 2:113220133-113220133 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1137C>A; p.P379P; 2:113227207-113227207 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.398G>A; p.R133Q; 2:113242770-113242770 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.978C>T; p.S326S; 2:113235503-113235503 |
oesophagus | carcinoma | Substitution - coding silent |
c.1242C>T; p.S414S; 2:113220126-113220126 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.329G>A; p.R110Q; 2:113244487-113244487 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.289C>T; p.R97C; 2:113244527-113244527 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.7C>T; p.H3Y; 2:113278388-113278388 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.777+1G>T; p.?; 2:113241550-113241550 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.777+1G>T; p.?; 2:113241550-113241550 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.1219C>T; p.H407Y; 2:113220149-113220149 |
pancreas | carcinoma | Substitution - Missense |
c.214C>T; p.R72W; 2:113244602-113244602 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1008C>T; p.G336G; 2:113235473-113235473 |
pancreas | carcinoma | Substitution - coding silent |
c.315G>A; p.W105*; 2:113244501-113244501 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.564C>T; p.I188I; 2:113242045-113242045 |
skin | malignant_melanoma | Substitution - coding silent |
c.564C>T; p.I188I; 2:113242045-113242045 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.699C>T; p.L233L; 2:113241629-113241629 |
skin | malignant_melanoma | Substitution - coding silent |
c.674C>T; p.T225M; 2:113241654-113241654 |
skin | malignant_melanoma | Substitution - Missense |
c.433G>A; p.D145N; 2:113242735-113242735 |
skin; extremity | malignant_melanoma | Substitution - Missense |
c.1115C>T; p.P372L; 2:113227229-113227229 |
skin | malignant_melanoma | Substitution - Missense |
c.965C>T; p.S322F; 2:113235516-113235516 |
skin | malignant_melanoma | Substitution - Missense |
c.481C>T; p.P161S; 2:113242128-113242128 |
skin | malignant_melanoma | Substitution - Missense |
c.820G>A; p.G274R; 2:113236679-113236679 |
skin | malignant_melanoma | Substitution - Missense |
c.700G>A; p.E234K; 2:113241628-113241628 |
skin | malignant_melanoma | Substitution - Missense |
c.655C>T; p.P219S; 2:113241673-113241673 |
skin | malignant_melanoma | Substitution - Missense |
c.945C>T; p.S315S; 2:113235536-113235536 |
skin | malignant_melanoma | Substitution - coding silent |
c.501C>G; p.P167P; 2:113242108-113242108 |
skin | malignant_melanoma | Substitution - coding silent |
c.237C>T; p.S79S; 2:113244579-113244579 |
skin | malignant_melanoma | Substitution - coding silent |
c.962C>T; p.P321L; 2:113235519-113235519 |
skin | malignant_melanoma | Substitution - Missense |
c.887C>T; p.P296L; 2:113236612-113236612 |
skin | malignant_melanoma | Substitution - Missense |
c.183C>T; p.I61I; 2:113246762-113246762 |
skin | malignant_melanoma | Substitution - coding silent |
c.588G>A; p.R196R; 2:113242021-113242021 |
skin | malignant_melanoma | Substitution - coding silent |
c.769G>A; p.G257S; 2:113241559-113241559 |
skin | malignant_melanoma | Substitution - Missense |
c.652G>A; p.G218R; 2:113241676-113241676 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.145C>T; p.R49C; 2:113246800-113246800 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.355A>G; p.N119D; 2:113244461-113244461 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.214C>T; p.R72W; 2:113244602-113244602 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.345C>T; p.G115G; 2:113244471-113244471 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1265C>A; p.S422Y; 2:113220103-113220103 |
thyroid | other; neoplasm | Substitution - Missense |
c.751T>C; p.S251P; 2:113241577-113241577 |
thyroid | other; neoplasm | Substitution - Missense |
c.1158T>C; p.Y386Y; 2:113227186-113227186 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1158T>C; p.Y386Y; 2:113227186-113227186 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - coding silent |