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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_ductcarcinoma; adenocarcinomaSubstitution - coding silent

c.1049C>T; p.S350F; 2:113235432-113235432

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.962C>A; p.P321H; 2:113235519-113235519

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.253A>C; p.T85P; 2:113244563-113244563

breastcarcinomaSubstitution - Missense

c.997C>T; p.Q333*; 2:113235484-113235484

breastcarcinomaSubstitution - Nonsense

c.789G>A; p.P263P; 2:113236710-113236710

breastcarcinomaSubstitution - coding silent

c.1277-4C>T; p.?; 2:113218613-113218613

central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaUnknown

c.192G>T; p.R64S; 2:113244624-113244624

central_nervous_system; braingliomaSubstitution - Missense

c.656C>A; p.P219H; 2:113241672-113241672

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.656C>A; p.P219H; 2:113241672-113241672

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.640A>C; p.S214R; 2:113241688-113241688

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1116C>T; p.P372P; 2:113227228-113227228

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1243G>A; p.E415K; 2:113220125-113220125

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.457C>A; p.L153M; 2:113242711-113242711

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.246G>T; p.K82N; 2:113244570-113244570

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.78G>A; p.L26L; 2:113246867-113246867

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.318G>T; p.E106D; 2:113244498-113244498

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.199G>A; p.E67K; 2:113244617-113244617

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.578G>T; p.S193I; 2:113242031-113242031

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1181T>C; p.M394T; 2:113227163-113227163

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; Burkitt_lymphomaSubstitution - Missense

c.249G>A; p.V83V; 2:113244567-113244567

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.481C>T; p.P161S; 2:113242128-113242128

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.380C>T; p.S127F; 2:113244436-113244436

kidneycarcinoma; renal_cell_carcinomaSubstitution - Missense

c.652G>A; p.G218R; 2:113241676-113241676

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1012G>A; p.G338R; 2:113235469-113235469

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.860G>A; p.R287H; 2:113236639-113236639

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.538T>C; p.Y180H; 2:113242071-113242071

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.761A>G; p.H254R; 2:113241567-113241567

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1317A>G; p.A439A; 2:113218569-113218569

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1121A>G; p.Y374C; 2:113227223-113227223

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1090C>T; p.R364*; 2:113227254-113227254

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.708C>T; p.L236L; 2:113241620-113241620

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.989delT; p.L330fs*96; 2:113235492-113235492

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1051G>A; p.V351M; 2:113235430-113235430

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.816C>T; p.D272D; 2:113236683-113236683

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1150G>A; p.G384S; 2:113227194-113227194

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.619C>A; p.R207R; 2:113241709-113241709

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1150G>A; p.G384S; 2:113227194-113227194

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.695A>C; p.H232P; 2:113241633-113241633

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.789G>A; p.P263P; 2:113236710-113236710

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.788C>T; p.P263L; 2:113236711-113236711

livercarcinomaSubstitution - Missense

c.720T>G; p.F240L; 2:113241608-113241608

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.73C>T; p.P25S; 2:113246872-113246872

livercarcinomaSubstitution - Missense

c.491C>A; p.A164D; 2:113242118-113242118

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.920T>C; p.I307T; 2:113235561-113235561

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.135C>A; p.C45*; 2:113246810-113246810

lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.993T>A; p.D331E; 2:113235488-113235488

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.516G>C; p.Q172H; 2:113242093-113242093

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.369C>G; p.P123P; 2:113244447-113244447

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.656C>A; p.P219H; 2:113241672-113241672

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.985T>A; p.F329I; 2:113235496-113235496

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.364G>T; p.V122L; 2:113244452-113244452

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1047C>G; p.A349A; 2:113235434-113235434

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1235C>T; p.S412F; 2:113220133-113220133

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1137C>A; p.P379P; 2:113227207-113227207

oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.398G>A; p.R133Q; 2:113242770-113242770

oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.978C>T; p.S326S; 2:113235503-113235503

oesophaguscarcinomaSubstitution - coding silent

c.1242C>T; p.S414S; 2:113220126-113220126

oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.329G>A; p.R110Q; 2:113244487-113244487

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.289C>T; p.R97C; 2:113244527-113244527

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.7C>T; p.H3Y; 2:113278388-113278388

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.777+1G>T; p.?; 2:113241550-113241550

ovarycarcinoma; serous_carcinomaUnknown

c.777+1G>T; p.?; 2:113241550-113241550

ovarycarcinoma; serous_carcinomaUnknown

c.1219C>T; p.H407Y; 2:113220149-113220149

pancreascarcinomaSubstitution - Missense

c.214C>T; p.R72W; 2:113244602-113244602

pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.1008C>T; p.G336G; 2:113235473-113235473

pancreascarcinomaSubstitution - coding silent

c.315G>A; p.W105*; 2:113244501-113244501

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.564C>T; p.I188I; 2:113242045-113242045

skinmalignant_melanomaSubstitution - coding silent

c.564C>T; p.I188I; 2:113242045-113242045

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.699C>T; p.L233L; 2:113241629-113241629

skinmalignant_melanomaSubstitution - coding silent

c.674C>T; p.T225M; 2:113241654-113241654

skinmalignant_melanomaSubstitution - Missense

c.433G>A; p.D145N; 2:113242735-113242735

skin; extremitymalignant_melanomaSubstitution - Missense

c.1115C>T; p.P372L; 2:113227229-113227229

skinmalignant_melanomaSubstitution - Missense

c.965C>T; p.S322F; 2:113235516-113235516

skinmalignant_melanomaSubstitution - Missense

c.481C>T; p.P161S; 2:113242128-113242128

skinmalignant_melanomaSubstitution - Missense

c.820G>A; p.G274R; 2:113236679-113236679

skinmalignant_melanomaSubstitution - Missense

c.700G>A; p.E234K; 2:113241628-113241628

skinmalignant_melanomaSubstitution - Missense

c.655C>T; p.P219S; 2:113241673-113241673

skinmalignant_melanomaSubstitution - Missense

c.945C>T; p.S315S; 2:113235536-113235536

skinmalignant_melanomaSubstitution - coding silent

c.501C>G; p.P167P; 2:113242108-113242108

skinmalignant_melanomaSubstitution - coding silent

c.237C>T; p.S79S; 2:113244579-113244579

skinmalignant_melanomaSubstitution - coding silent

c.962C>T; p.P321L; 2:113235519-113235519

skinmalignant_melanomaSubstitution - Missense

c.887C>T; p.P296L; 2:113236612-113236612

skinmalignant_melanomaSubstitution - Missense

c.183C>T; p.I61I; 2:113246762-113246762

skinmalignant_melanomaSubstitution - coding silent

c.588G>A; p.R196R; 2:113242021-113242021

skinmalignant_melanomaSubstitution - coding silent

c.769G>A; p.G257S; 2:113241559-113241559

skinmalignant_melanomaSubstitution - Missense

c.652G>A; p.G218R; 2:113241676-113241676

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.145C>T; p.R49C; 2:113246800-113246800

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.355A>G; p.N119D; 2:113244461-113244461

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.214C>T; p.R72W; 2:113244602-113244602

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.345C>T; p.G115G; 2:113244471-113244471

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1265C>A; p.S422Y; 2:113220103-113220103

thyroidother; neoplasmSubstitution - Missense

c.751T>C; p.S251P; 2:113241577-113241577

thyroidother; neoplasmSubstitution - Missense

c.1158T>C; p.Y386Y; 2:113227186-113227186

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1158T>C; p.Y386Y; 2:113227186-113227186

upper_aerodigestive_tract; mouthcarcinomaSubstitution - coding silent