| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 10054 |
Name | UBA2 |
Synonymous | ubiquitin-like modifier activating enzyme 2;UBA2;ubiquitin-like modifier activating enzyme 2 |
Definition | SUMO-1 activating enzyme subunit 2|SUMO-activating enzyme subunit 2|SUMO1 activating enzyme subunit 2|UBA2, ubiquitin-activating enzyme E1 homolog|anthracycline-associated resistance ARX|ubiquitin-like 1-activating enzyme E1B|ubiquitin-like modifier-activ |
Position | 19q12 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1405G>T; p.V469L; 19:34460473-34460473 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.495G>A; p.P165P; 19:34438680-34438680 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1370A>C; p.H457P; 19:34458893-34458893 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.495G>A; p.P165P; 19:34438680-34438680 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.495G>A; p.P165P; 19:34438680-34438680 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.495G>A; p.P165P; 19:34438680-34438680 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.495G>A; p.P165P; 19:34438680-34438680 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.265A>G; p.I89V; 19:34431903-34431903 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.212C>G; p.S71*; 19:34430649-34430649 |
skin | malignant_melanoma | Substitution - Nonsense |
c.882G>A; p.T294T; 19:34451991-34451991 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.882G>A; p.T294T; 19:34451991-34451991 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.882G>A; p.T294T; 19:34451991-34451991 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1821G>T; p.E607D; 19:34469119-34469119 |
liver | carcinoma | Substitution - Missense |
c.1821G>T; p.E607D; 19:34469119-34469119 |
liver | carcinoma | Substitution - Missense |
c.1264C>T; p.P422S; 19:34458787-34458787 |
skin | malignant_melanoma | Substitution - Missense |
c.1128C>A; p.I376I; 19:34454349-34454349 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.796C>A; p.L266M; 19:34450289-34450289 |
breast | carcinoma | Substitution - Missense |
c.28G>A; p.E10K; 19:34428460-34428460 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1775C>T; p.S592L; 19:34469073-34469073 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1622A>T; p.D541V; 19:34466895-34466895 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1807G>A; p.V603I; 19:34469105-34469105 |
pancreas | carcinoma | Substitution - Missense |
c.150T>G; p.D50E; 19:34430587-34430587 |
haematopoietic_and_lymphoid_tissue; central_nervous_system | lymphoid_neoplasm; primary_central_nervous_system_lymphoma | Substitution - Missense |
c.223-2A>T; p.?; 19:34431859-34431859 |
endometrium | carcinoma; serous_carcinoma | Unknown |
c.1206A>T; p.G402G; 19:34454517-34454517 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1775C>A; p.S592*; 19:34469073-34469073 |
liver | carcinoma | Substitution - Nonsense |
c.1775C>A; p.S592*; 19:34469073-34469073 |
liver | carcinoma | Substitution - Nonsense |
c.1443A>C; p.Q481H; 19:34460511-34460511 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.75G>A; p.A25A; 19:34428507-34428507 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1717G>A; p.G573R; 19:34466990-34466990 |
liver | carcinoma | Substitution - Missense |
c.226G>A; p.A76T; 19:34431864-34431864 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1717G>A; p.G573R; 19:34466990-34466990 |
liver | carcinoma | Substitution - Missense |
c.139A>G; p.I47V; 19:34430576-34430576 |
liver | carcinoma | Substitution - Missense |
c.667G>A; p.E223K; 19:34445017-34445017 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.667G>A; p.E223K; 19:34445017-34445017 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.347T>C; p.L116S; 19:34433401-34433401 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.1711G>A; p.D571N; 19:34466984-34466984 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.603T>C; p.D201D; 19:34443865-34443865 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1778A>C; p.D593A; 19:34469076-34469076 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1809C>T; p.V603V; 19:34469107-34469107 |
breast | carcinoma | Substitution - coding silent |
c.225T>C; p.V75V; 19:34431863-34431863 |
bone; extraskeletal | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.696T>C; p.D232D; 19:34445046-34445046 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1869G>T; p.K623N; 19:34469167-34469167 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.709C>T; p.R237C; 19:34445059-34445059 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.690T>C; p.N230N; 19:34445040-34445040 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1547G>A; p.R516Q; 19:34464074-34464074 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.690T>C; p.N230N; 19:34445040-34445040 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1772A>C; p.D591A; 19:34469070-34469070 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.558C>T; p.I186I; 19:34438743-34438743 |
skin | malignant_melanoma | Substitution - coding silent |
c.748G>T; p.D250Y; 19:34445098-34445098 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.995A>G; p.H332R; 19:34452104-34452104 |
liver | carcinoma | Substitution - Missense |
c.1718G>T; p.G573V; 19:34466991-34466991 |
liver | carcinoma | Substitution - Missense |
c.1718G>T; p.G573V; 19:34466991-34466991 |
liver | carcinoma | Substitution - Missense |
c.488C>T; p.P163L; 19:34438673-34438673 |
skin | malignant_melanoma | Substitution - Missense |
c.637C>T; p.P213S; 19:34443899-34443899 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1144A>G; p.N382D; 19:34454455-34454455 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.320G>A; p.R107Q; 19:34433374-34433374 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.1168A>T; p.T390S; 19:34454479-34454479 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.871G>T; p.G291*; 19:34450364-34450364 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.71G>T; p.G24V; 19:34428503-34428503 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.620C>A; p.S207Y; 19:34443882-34443882 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.143A>T; p.D48V; 19:34430580-34430580 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1105A>G; p.N369D; 19:34454326-34454326 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1267A>C; p.N423H; 19:34458790-34458790 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.495G>C; p.P165P; 19:34438680-34438680 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.710G>A; p.R237H; 19:34445060-34445060 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.931C>T; p.Q311*; 19:34452040-34452040 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1299A>G; p.A433A; 19:34458822-34458822 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1447G>A; p.E483K; 19:34460515-34460515 |
breast | carcinoma | Substitution - Missense |
c.319C>T; p.R107*; 19:34433373-34433373 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Nonsense |
c.1265C>G; p.P422R; 19:34458788-34458788 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.114C>T; p.L38L; 19:34428546-34428546 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.69delG; p.A25fs*22; 19:34428501-34428501 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.526C>T; p.R176C; 19:34438711-34438711 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.526C>T; p.R176C; 19:34438711-34438711 |
breast | carcinoma | Substitution - Missense |
c.54C>G; p.G18G; 19:34428486-34428486 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.979G>A; p.E327K; 19:34452088-34452088 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.488C>A; p.P163H; 19:34438673-34438673 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1403T>C; p.I468T; 19:34460471-34460471 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1118G>C; p.R373T; 19:34454339-34454339 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.805A>G; p.M269V; 19:34450298-34450298 |
pancreas | carcinoma | Substitution - Missense |
c.805A>G; p.M269V; 19:34450298-34450298 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.819G>A; p.W273*; 19:34450312-34450312 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1133-6T>C; p.?; 19:34454438-34454438 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.1246-1G>T; p.?; 19:34458768-34458768 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.1596C>G; p.I532M; 19:34464123-34464123 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.623C>T; p.P208L; 19:34443885-34443885 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.1113G>T; p.K371N; 19:34454334-34454334 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.84C>T; p.I28I; 19:34428516-34428516 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.54C>T; p.G18G; 19:34428486-34428486 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.740C>A; p.T247N; 19:34445090-34445090 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.222G>T; p.Q74H; 19:34430659-34430659 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.820C>T; p.R274W; 19:34450313-34450313 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1247_1248insT; p.L418fs*3; 19:34458770-34458771 |
stomach | carcinoma; intestinal_adenocarcinoma | Insertion - Frameshift |
c.214A>C; p.K72Q; 19:34430651-34430651 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.214A>C; p.K72Q; 19:34430651-34430651 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1246-1G>C; p.?; 19:34458768-34458768 |
central_nervous_system; thalamus | glioma; oligodendroglioma_Grade_III | Unknown |
c.1702A>T; p.N568Y; 19:34466975-34466975 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.841_842CC>TT; p.P281L; 19:34450334-34450335 |
skin | malignant_melanoma | Substitution - Missense |
c.684A>C; p.A228A; 19:34445034-34445034 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1637T>G; p.V546G; 19:34466910-34466910 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1887G>A; p.Q629Q; 19:34469185-34469185 |
pancreas | carcinoma | Substitution - coding silent |
c.1829G>A; p.R610H; 19:34469127-34469127 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.781G>T; p.D261Y; 19:34450274-34450274 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1829G>A; p.R610H; 19:34469127-34469127 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1829G>A; p.R610H; 19:34469127-34469127 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1652C>T; p.P551L; 19:34466925-34466925 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1652C>T; p.P551L; 19:34466925-34466925 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1788T>C; p.D596D; 19:34469086-34469086 |
skin | malignant_melanoma | Substitution - coding silent |
c.365G>A; p.R122Q; 19:34434874-34434874 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |