| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 501 |
Name | ALDH7A1 |
Synonymous | aldehyde dehydrogenase 7 family, member A1;ALDH7A1;aldehyde dehydrogenase 7 family, member A1 |
Definition | 26g turgor protein homolog|P6c dehydrogenase|alpha-AASA dehydrogenase|alpha-aminoadipic semialdehyde dehydrogenase|antiquitin-1|betaine aldehyde dehydrogenase|delta1-piperideine-6-carboxylate dehydrogenase |
Position | 5q31 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1169G>A; p.G390D; 5:126552085-126552085 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1169G>A; p.G390D; 5:126552085-126552085 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1169G>A; p.G390D; 5:126552085-126552085 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1169G>A; p.G390D; 5:126552085-126552085 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1200T>C; p.T400T; 5:126552054-126552054 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1317C>A; p.I439I; 5:126550210-126550210 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1230C>T; p.F410F; 5:126552024-126552024 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1217A>G; p.Y406C; 5:126552037-126552037 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1331+2T>A; p.?; 5:126550194-126550194 |
large_intestine; caecum | carcinoma; adenocarcinoma | Unknown |
c.531C>T; p.N177N; 5:126577114-126577114 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.238C>T; p.P80S; 5:126584003-126584003 |
skin | malignant_melanoma | Substitution - Missense |
c.257T>C; p.V86A; 5:126583984-126583984 |
skin | malignant_melanoma | Substitution - Missense |
c.975C>T; p.A325A; 5:126555965-126555965 |
prostate | adenoma | Substitution - coding silent |
c.1214T>C; p.L405P; 5:126552040-126552040 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.802G>A; p.E268K; 5:126561110-126561110 |
skin | malignant_melanoma | Substitution - Missense |
c.57C>T; p.L19L; 5:126595058-126595058 |
kidney | carcinoma; renal_cell_carcinoma | Substitution - coding silent |
c.57C>T; p.L19L; 5:126595058-126595058 |
upper_aerodigestive_tract; sinonasal_and_nasal_cavity | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1321C>T; p.R441C; 5:126550206-126550206 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.271G>A; p.D91N; 5:126583970-126583970 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1207C>T; p.P403S; 5:126552047-126552047 |
skin; scalp | malignant_melanoma | Substitution - Missense |
c.1150A>G; p.T384A; 5:126552104-126552104 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.953T>C; p.V318A; 5:126555987-126555987 |
skin | malignant_melanoma | Substitution - Missense |
c.915G>A; p.A305A; 5:126559249-126559249 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.450G>A; p.L150L; 5:126577195-126577195 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.108+10C>T; p.?; 5:126594997-126594997 |
liver | carcinoma | Unknown |
c.589C>T; p.L197F; 5:126575442-126575442 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.108+10C>T; p.?; 5:126594997-126594997 |
liver | carcinoma | Unknown |
c.97G>T; p.G33C; 5:126595018-126595018 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.475C>A; p.L159M; 5:126577170-126577170 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.823A>G; p.I275V; 5:126561089-126561089 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.8C>T; p.T3I; 5:126595107-126595107 |
kidney | other; neoplasm | Substitution - Missense |
c.1127G>A; p.R376H; 5:126552127-126552127 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.42G>A; p.L14L; 5:126595073-126595073 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1127G>A; p.R376H; 5:126552127-126552127 |
skin | malignant_melanoma | Substitution - Missense |
c.1293C>G; p.I431M; 5:126550234-126550234 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1328T>C; p.L443P; 5:126550199-126550199 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.394T>G; p.L132V; 5:126582890-126582890 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1270A>T; p.K424*; 5:126550257-126550257 |
liver | carcinoma | Substitution - Nonsense |
c.344G>T; p.G115V; 5:126582940-126582940 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1182C>T; p.S394S; 5:126552072-126552072 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.385G>T; p.A129S; 5:126582899-126582899 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.385G>T; p.A129S; 5:126582899-126582899 |
pancreas | pancreatic_intraepithelial_neoplasia_(PanIN) | Substitution - Missense |
c.796C>T; p.L266L; 5:126561116-126561116 |
skin | malignant_melanoma | Substitution - coding silent |
c.484A>T; p.I162F; 5:126577161-126577161 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.27C>T; p.P9P; 5:126595088-126595088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.741C>T; p.S247S; 5:126568305-126568305 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.493G>A; p.A165T; 5:126577152-126577152 |
liver | carcinoma | Substitution - Missense |
c.493G>A; p.A165T; 5:126577152-126577152 |
liver | carcinoma | Substitution - Missense |
c.979G>A; p.A327T; 5:126555961-126555961 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1299C>A; p.T433T; 5:126550228-126550228 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1072G>A; p.E358K; 5:126554331-126554331 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.245G>T; p.R82L; 5:126583996-126583996 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.192A>T; p.V64V; 5:126592700-126592700 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.270C>T; p.G90G; 5:126583971-126583971 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.829G>T; p.A277S; 5:126561083-126561083 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1475C>T; p.S492F; 5:126546330-126546330 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.730T>C; p.F244L; 5:126568316-126568316 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1156G>A; p.V386M; 5:126552098-126552098 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1066G>A; p.A356T; 5:126554337-126554337 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.831C>A; p.A277A; 5:126559333-126559333 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.862C>T; p.P288S; 5:126559302-126559302 |
skin | malignant_melanoma | Substitution - Missense |
c.729C>A; p.S243S; 5:126568317-126568317 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1486A>G; p.I496V; 5:126545015-126545015 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1179G>A; p.A393A; 5:126552075-126552075 |
pancreas | carcinoma | Substitution - coding silent |
c.1009+1G>A; p.?; 5:126555930-126555930 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Unknown |
c.1126C>T; p.R376C; 5:126552128-126552128 |
skin | malignant_melanoma | Substitution - Missense |
c.1126C>T; p.R376C; 5:126552128-126552128 |
skin | malignant_melanoma | Substitution - Missense |
c.232C>T; p.P78S; 5:126584009-126584009 |
skin | malignant_melanoma | Substitution - Missense |
c.919C>T; p.R307*; 5:126559245-126559245 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |