| Gene ID | 140628 |
| Symbol | GATA5 |
| Synonymous | GATAS|bB379O24.1 |
| Full name | GATA binding protein 5 |
| Gene description | GATA binding factor-5|GATA-binding factor 5|GATA-binding protein 5|transcription factor GATA-5 |
| Cytoband | 20q13.33 |
| Gene type | protein-coding |
| Synonymous | MIM:611496; HGNC:HGNC:15802; Ensembl:ENSG00000130700; HPRD:17029; Vega:OTTHUMG00000032919 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.640G>A; p.G214S; 20:62473462-62473462 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.805C>T; p.L269F; 20:62466446-62466446 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.303G>A; p.G101G; 20:62475219-62475219 |
pancreas | carcinoma | Substitution - coding silent |
c.1100A>C; p.E367A; 20:62464930-62464930 |
ovary | other; neoplasm | Substitution - Missense |
c.1100A>C; p.E367A; 20:62464930-62464930 |
ovary | other; neoplasm | Substitution - Missense |
c.1100A>C; p.E367A; 20:62464930-62464930 |
ovary | other; neoplasm | Substitution - Missense |
c.1100A>C; p.E367A; 20:62464930-62464930 |
ovary | other; neoplasm | Substitution - Missense |
c.524-2A>G; p.?; 20:62473580-62473580 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.602G>A; p.R201H; 20:62473500-62473500 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.602G>A; p.R201H; 20:62473500-62473500 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.755C>T; p.T252M; 20:62466496-62466496 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1115C>G; p.P372R; 20:62464915-62464915 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.850A>C; p.K284Q; 20:62465897-62465897 |
NS | malignant_melanoma | Substitution - Missense |
c.329G>A; p.G110D; 20:62475193-62475193 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1128A>G; p.P376P; 20:62464902-62464902 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.850A>C; p.K284Q; 20:62465897-62465897 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.1128A>G; p.P376P; 20:62464902-62464902 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1128A>G; p.P376P; 20:62464902-62464902 |
thyroid | other; neoplasm | Substitution - coding silent |
c.850A>C; p.K284Q; 20:62465897-62465897 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.1093G>C; p.E365Q; 20:62464937-62464937 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.1093G>C; p.E365Q; 20:62464937-62464937 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.558T>C; p.G186G; 20:62473544-62473544 |
breast | carcinoma | Substitution - coding silent |
c.609C>T; p.D203D; 20:62473493-62473493 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1081G>A; p.E361K; 20:62464949-62464949 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.917C>T; p.S306F; 20:62465461-62465461 |
skin | malignant_melanoma | Substitution - Missense |
c.974C>T; p.A325V; 20:62465404-62465404 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.1040C>A; p.A347D; 20:62464990-62464990 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1007C>T; p.P336L; 20:62465371-62465371 |
skin | malignant_melanoma | Substitution - Missense |
c.11G>A; p.S4N; 20:62475511-62475511 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.286G>A; p.A96T; 20:62475236-62475236 |
peritoneum; appendix | other; pseudomyxoma_peritonei | Substitution - Missense |
c.428C>T; p.P143L; 20:62475094-62475094 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.975C>T; p.A325A; 20:62465403-62465403 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.768G>A; p.R256R; 20:62466483-62466483 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1191C>A; p.A397A; 20:62464839-62464839 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1191C>A; p.A397A; 20:62464839-62464839 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.852G>A; p.K284K; 20:62465895-62465895 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.852G>A; p.K284K; 20:62465895-62465895 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.852G>A; p.K284K; 20:62465895-62465895 |
thyroid | other; neoplasm | Substitution - coding silent |
c.852G>A; p.K284K; 20:62465895-62465895 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.852G>A; p.K284K; 20:62465895-62465895 |
thyroid | other; neoplasm | Substitution - coding silent |
c.852G>A; p.K284K; 20:62465895-62465895 |
thyroid | other; neoplasm | Substitution - coding silent |
c.822C>T; p.H274H; 20:62466429-62466429 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.755C>A; p.T252K; 20:62466496-62466496 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.199A>C; p.T67P; 20:62475323-62475323 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.487G>A; p.V163I; 20:62475035-62475035 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1010T>C; p.V337A; 20:62465368-62465368 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.445G>A; p.D149N; 20:62475077-62475077 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.981G>C; p.S327S; 20:62465397-62465397 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.981G>C; p.S327S; 20:62465397-62465397 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.981G>C; p.S327S; 20:62465397-62465397 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.1177G>A; p.A393T; 20:62464853-62464853 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.625C>T; p.L209L; 20:62473477-62473477 |
skin | malignant_melanoma | Substitution - coding silent |
c.529G>A; p.D177N; 20:62473573-62473573 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.829C>T; p.P277S; 20:62465918-62465918 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1186T>A; p.L396M; 20:62464844-62464844 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1121C>T; p.T374M; 20:62464909-62464909 |
thyroid | carcinoma | Substitution - Missense |
c.1092C>T; p.F364F; 20:62464938-62464938 |
skin | malignant_melanoma | Substitution - coding silent |
c.723C>A; p.L241L; 20:62466528-62466528 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.560G>A; p.R187H; 20:62473542-62473542 |
pancreas | carcinoma | Substitution - Missense |
c.604C>T; p.R202*; 20:62473498-62473498 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.549G>A; p.P183P; 20:62473553-62473553 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.100G>C; p.V34L; 20:62475422-62475422 |
liver | carcinoma | Substitution - Missense |
c.100G>C; p.V34L; 20:62475422-62475422 |
liver | carcinoma | Substitution - Missense |
c.195G>A; p.A65A; 20:62475327-62475327 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.629G>A; p.C210Y; 20:62473473-62473473 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.584T>G; p.L195R; 20:62473518-62473518 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.980C>T; p.S327L; 20:62465398-62465398 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.980C>T; p.S327L; 20:62465398-62465398 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1141G>A; p.G381S; 20:62464889-62464889 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.914-2A>T; p.?; 20:62465466-62465466 |
lung | carcinoma; adenocarcinoma | Unknown |
c.959C>A; p.T320N; 20:62465419-62465419 |
ovary | other; neoplasm | Substitution - Missense |
c.72C>T; p.H24H; 20:62475450-62475450 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.710G>A; p.R237H; 20:62466541-62466541 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.829C>A; p.P277T; 20:62465918-62465918 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.548C>T; p.P183L; 20:62473554-62473554 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.864G>A; p.Q288Q; 20:62465883-62465883 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.773C>T; p.S258L; 20:62466478-62466478 |
skin | malignant_melanoma | Substitution - Missense |
c.969_970delAG; p.A324fs*29; 20:62465408-62465409 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Deletion - Frameshift |
c.168delC; p.E57fs*90; 20:62475354-62475354 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.1057G>T; p.D353Y; 20:62464973-62464973 |
urinary_tract; bladder | carcinoma | Substitution - Missense |