| General information | Literature | Expression | Regulation | Variant | Interaction |
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Basic Information |
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|---|---|
Gene ID | 219333 |
Name | USP12 |
Synonymous | ubiquitin specific peptidase 12;USP12;ubiquitin specific peptidase 12 |
Definition | deubiquitinating enzyme 12|ubiquitin carboxyl-terminal hydrolase 12|ubiquitin specific protease 12 like 1|ubiquitin thioesterase 12|ubiquitin thiolesterase 12|ubiquitin-hydrolyzing enzyme 1|ubiquitin-specific-processing protease 12 |
Position | 13q12.13 |
Gene Type | protein-coding |
Mutation summary: | Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72 |
Mutation summary in protein domains | Top |
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The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers | Top |
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Loss of Function mutations compare to missense mutations | Top |
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| The ratio of the loss-of-function mutations over missense mutations is 0.17. |
The copy number variations for various cancers | Top |
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The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract |
COSMIC somatic mutation [Top] | |||
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Mutation (CDS; AA; Chr) |
Site |
Histology |
Mutation Type |
|---|---|---|---|
c.959C>T; p.A320V; 13:27071123-27071123 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.818A>C; p.K273T; 13:27075305-27075305 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.634A>G; p.I212V; 13:27090098-27090098 |
breast | carcinoma | Substitution - Missense |
c.1100A>G; p.Q367R; 13:27069296-27069296 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.576A>G; p.I192M; 13:27090156-27090156 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.953A>G; p.Y318C; 13:27071129-27071129 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.953A>G; p.Y318C; 13:27071129-27071129 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.733C>T; p.R245W; 13:27089884-27089884 |
breast | carcinoma | Substitution - Missense |
c.733C>T; p.R245W; 13:27089884-27089884 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.733C>T; p.R245W; 13:27089884-27089884 |
breast | carcinoma | Substitution - Missense |
c.750delA; p.K250fs*4; 13:27075373-27075373 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.455G>A; p.R152H; 13:27095719-27095719 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.901G>A; p.D301N; 13:27075222-27075222 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.694T>A; p.Y232N; 13:27089923-27089923 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.568G>A; p.E190K; 13:27095606-27095606 |
breast | carcinoma | Substitution - Missense |
c.1000G>A; p.D334N; 13:27071082-27071082 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.427G>C; p.E143Q; 13:27095747-27095747 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.943C>T; p.R315*; 13:27071139-27071139 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.626A>G; p.N209S; 13:27090106-27090106 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.190C>T; p.R64W; 13:27105884-27105884 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.195A>C; p.E65D; 13:27105879-27105879 |
genital_tract; extragonadal | germ_cell_tumour; yolk_sac_tumour | Substitution - Missense |
c.626A>G; p.N209S; 13:27090106-27090106 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.707G>A; p.C236Y; 13:27089910-27089910 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.816A>T; p.T272T; 13:27075307-27075307 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.147C>A; p.Y49*; 13:27105927-27105927 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.750_751insA; p.L251fs*13; 13:27075372-27075373 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.202C>A; p.L68I; 13:27105872-27105872 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.615C>T; p.D205D; 13:27090117-27090117 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.51C>T; p.G17G; 13:27116594-27116594 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.145T>A; p.Y49N; 13:27105929-27105929 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.650+9A>C; p.?; 13:27090073-27090073 |
prostate | carcinoma | Unknown |
c.853C>T; p.R285C; 13:27075270-27075270 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.241C>A; p.L81I; 13:27105833-27105833 |
breast | carcinoma | Substitution - Missense |
c.89A>C; p.E30A; 13:27116556-27116556 |
skin | malignant_melanoma | Substitution - Missense |
c.944G>A; p.R315Q; 13:27071138-27071138 |
breast | carcinoma | Substitution - Missense |
c.944G>A; p.R315Q; 13:27071138-27071138 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1022C>A; p.A341E; 13:27069374-27069374 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.184C>G; p.P62A; 13:27105890-27105890 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.160C>A; p.L54I; 13:27105914-27105914 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.313A>G; p.K105E; 13:27105761-27105761 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.123A>T; p.L41F; 13:27116522-27116522 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.580A>C; p.S194R; 13:27090152-27090152 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.999C>T; p.D333D; 13:27071083-27071083 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.207G>A; p.A69A; 13:27105867-27105867 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.62_63insCC; p.A22fs*3; 13:27116582-27116583 |
large_intestine; caecum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.384C>A; p.F128L; 13:27095790-27095790 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.854G>A; p.R285H; 13:27075269-27075269 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.625A>C; p.N209H; 13:27090107-27090107 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.710G>A; p.R237H; 13:27089907-27089907 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.710G>A; p.R237H; 13:27089907-27089907 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.331C>T; p.R111W; 13:27105743-27105743 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.332G>A; p.R111Q; 13:27105742-27105742 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.280C>T; p.Q94*; 13:27105794-27105794 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.754C>T; p.P252S; 13:27075369-27075369 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1075G>A; p.E359K; 13:27069321-27069321 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.1075G>A; p.E359K; 13:27069321-27069321 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.56A>G; p.N19S; 13:27116589-27116589 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.689A>G; p.K230R; 13:27089928-27089928 |
breast | carcinoma | Substitution - Missense |
c.527_530delTTCA; p.F176fs*4; 13:27095644-27095647 |
breast | carcinoma | Deletion - Frameshift |
c.1041C>A; p.F347L; 13:27069355-27069355 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.985T>G; p.L329V; 13:27071097-27071097 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |