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Gene information | Literature | Expression | lncRNA | Mutation | Homolog

Basic Information

Gene ID

23598

Name

PATZ1

Synonymous

POZ (BTB) and AT hook containing zinc finger 1;PATZ1;POZ (BTB) and AT hook containing zinc finger 1

Definition

BTB-POZ domain zinc finger transcription factor|BTB/POZ domain zinc finger transcription factor|MAZ-related factor|POZ-, AT hook-, and zinc finger-containing protein 1|POZ-AT hook-zinc finger protein|protein kinase A RI subunit alpha-associated protein|zi

Position

22q12.2

Gene Type

protein-coding

COSMIC confirmed somatic mutation   [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.30C>T; p.G10G; 22:31345573-31345573

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.851G>A; p.G284E; 22:31344752-31344752

 central_nervous_system; braingliomaSubstitution - Missense

c.991C>G; p.L331V; 22:31344612-31344612

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.191A>G; p.E64G; 22:31345412-31345412

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1233G>A; p.K411K; 22:31344370-31344370

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.343G>T; p.G115W; 22:31345260-31345260

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.822C>G; p.N274K; 22:31344781-31344781

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; plasma_cell_myelomaSubstitution - Missense

c.1116G>A; p.R372R; 22:31344487-31344487

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.106A>T; p.N36Y; 22:31345497-31345497

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1430C>T; p.S477L; 22:31341589-31341589

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.883G>T; p.G295C; 22:31344720-31344720

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.107delA; p.N36fs*12; 22:31345496-31345496

 large_intestine; rectumcarcinoma; adenocarcinomaDeletion - Frameshift

c.327C>T; p.I109I; 22:31345276-31345276

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.948C>T; p.V316V; 22:31344655-31344655

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.922C>T; p.R308W; 22:31344681-31344681

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1476_1477insA; p.S493fs*6; 22:31341542-31341543

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.254C>G; p.A85G; 22:31345349-31345349

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.533delC; p.P178fs*12; 22:31345070-31345070

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.533delC; p.P178fs*12; 22:31345070-31345070

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.264G>A; p.G88G; 22:31345339-31345339

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1129C>A; p.H377N; 22:31344474-31344474

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1A>G; p.M1V; 22:31345602-31345602

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1087A>C; p.I363L; 22:31344516-31344516

 livercarcinomaSubstitution - Missense

c.1087A>C; p.I363L; 22:31344516-31344516

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.542C>T; p.S181L; 22:31345061-31345061

 livercarcinomaSubstitution - Missense

c.793C>T; p.R265*; 22:31344810-31344810

 livercarcinomaSubstitution - Nonsense

c.793C>T; p.R265*; 22:31344810-31344810

 livercarcinomaSubstitution - Nonsense

c.1146C>T; p.P382P; 22:31344457-31344457

 livercarcinomaSubstitution - coding silent

c.1146C>T; p.P382P; 22:31344457-31344457

 livercarcinomaSubstitution - coding silent

c.1198T>A; p.Y400N; 22:31344405-31344405

 livercarcinomaSubstitution - Missense

c.794G>A; p.R265Q; 22:31344809-31344809

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.508G>C; p.A170P; 22:31345095-31345095

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.44A>G; p.Y15C; 22:31345559-31345559

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.877C>T; p.P293S; 22:31344726-31344726

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.597C>T; p.S199S; 22:31345006-31345006

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.267C>T; p.G89G; 22:31345336-31345336

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.424T>A; p.F142I; 22:31345179-31345179

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.536G>A; p.G179E; 22:31345067-31345067

 NSmalignant_melanomaSubstitution - Missense

c.430C>G; p.L144V; 22:31345173-31345173

 NSNSSubstitution - Missense

c.386G>A; p.R129H; 22:31345217-31345217

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.724C>T; p.L242L; 22:31344879-31344879

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.609C>T; p.A203A; 22:31344994-31344994

 pancreascarcinomaSubstitution - coding silent

c.609C>T; p.A203A; 22:31344994-31344994

 pancreascarcinomaSubstitution - coding silent

c.609C>T; p.A203A; 22:31344994-31344994

 pancreascarcinomaSubstitution - coding silent

c.533C>A; p.P178H; 22:31345070-31345070

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1440G>C; p.S480S; 22:31341579-31341579

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1488C>T; p.A496A; 22:31341531-31341531

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.526C>T; p.R176C; 22:31345077-31345077

 skinmalignant_melanomaSubstitution - Missense

c.420C>T; p.A140A; 22:31345183-31345183

 skinmalignant_melanomaSubstitution - coding silent

c.1378C>A; p.L460I; 22:31341641-31341641

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1254T>C; p.C418C; 22:31344349-31344349

 skinmalignant_melanomaSubstitution - coding silent

c.848delC; p.P283fs*4; 22:31344755-31344755

 skin; head_neckcarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.1235C>T; p.P412L; 22:31344368-31344368

 skin; earcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.747C>T; p.S249S; 22:31344856-31344856

 skinmalignant_melanomaSubstitution - coding silent

c.1181G>A; p.R394K; 22:31344422-31344422

 skinmalignant_melanomaSubstitution - Missense

c.251C>T; p.P84L; 22:31345352-31345352

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.774C>T; p.A258A; 22:31344829-31344829

 skinmalignant_melanomaSubstitution - coding silent

c.254C>T; p.A85V; 22:31345349-31345349

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.295G>C; p.G99R; 22:31345308-31345308

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.323C>T; p.T108I; 22:31345280-31345280

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.110G>A; p.G37D; 22:31345493-31345493

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.185G>A; p.C62Y; 22:31345418-31345418

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.522C>T; p.L174L; 22:31345081-31345081

 thyroidother; neoplasmSubstitution - coding silent

c.522C>T; p.L174L; 22:31345081-31345081

 thyroidother; neoplasmSubstitution - coding silent

c.522C>T; p.L174L; 22:31345081-31345081

 thyroidother; neoplasmSubstitution - coding silent

c.861G>T; p.R287S; 22:31344742-31344742

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.861G>T; p.R287S; 22:31344742-31344742

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.106A>T; p.N36Y; 22:31345497-31345497

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.115C>G; p.R39G; 22:31345488-31345488

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.115C>G; p.R39G; 22:31345488-31345488

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.115C>G; p.R39G; 22:31345488-31345488

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.115C>G; p.R39G; 22:31345488-31345488

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.115C>G; p.R39G; 22:31345488-31345488

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.115C>G; p.R39G; 22:31345488-31345488

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.115C>G; p.R39G; 22:31345488-31345488

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1333C>T; p.Q445*; 22:31342899-31342899

 urinary_tract; bladdercarcinomaSubstitution - Nonsense