| General information | Literature | Expression | Regulation | Variant | Interaction |
|
Basic Information |
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|---|---|
Gene ID | 9781 |
Name | RNF144A |
Synonymous | ring finger protein 144A;RNF144A;ring finger protein 144A |
Definition | E3 ubiquitin-protein ligase RNF144A|UbcM4-interacting protein 4|probable E3 ubiquitin-protein ligase RNF144A|ring finger protein 144|ubiquitin conjugating enzyme 7 interacting protein 4|ubiquitin-conjugating enzyme 7-interacting protein 4 |
Position | 2p25.2 |
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 0.14. |
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] | |||
|
Mutation (CDS; AA; Chr) |
Site |
Histology |
Mutation Type |
|---|---|---|---|
c.324G>T; p.R108R; 2:7020495-7020495 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.878A>G; p.*293W; 2:7039759-7039759 |
soft_tissue; striated_muscle | rhabdomyosarcoma; alveolar | Nonstop extension |
c.655G>T; p.D219Y; 2:7024514-7024514 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.492C>T; p.F164F; 2:7020663-7020663 |
skin | malignant_melanoma | Substitution - coding silent |
c.492C>T; p.F164F; 2:7020663-7020663 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.597G>A; p.A199A; 2:7024456-7024456 |
breast | carcinoma | Substitution - coding silent |
c.384G>A; p.Q128Q; 2:7020555-7020555 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.231G>T; p.Q77H; 2:7014549-7014549 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.416G>A; p.R139H; 2:7020587-7020587 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.421G>A; p.E141K; 2:7020592-7020592 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.470C>G; p.P157R; 2:7020641-7020641 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.755G>A; p.G252D; 2:7039636-7039636 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.301G>C; p.E101Q; 2:7014772-7014772 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.135+2T>G; p.?; 2:6997063-6997063 |
skin | malignant_melanoma | Unknown |
c.735G>A; p.W245*; 2:7030203-7030203 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.377G>C; p.G126A; 2:7020548-7020548 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.523A>G; p.M175V; 2:7024382-7024382 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.336G>A; p.P112P; 2:7020507-7020507 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.415C>T; p.R139C; 2:7020586-7020586 |
prostate | carcinoma | Substitution - Missense |
c.373G>A; p.V125M; 2:7020544-7020544 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.232G>A; p.E78K; 2:7014550-7014550 |
ovary | other; neoplasm | Substitution - Missense |
c.410C>T; p.A137V; 2:7020581-7020581 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.167_169delAAG; p.E57delE; 2:7014485-7014487 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - In frame |
c.853G>T; p.G285C; 2:7039734-7039734 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.666C>T; p.F222F; 2:7030134-7030134 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.872C>A; p.P291H; 2:7039753-7039753 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.246G>T; p.E82D; 2:7014717-7014717 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.276A>G; p.R92R; 2:7014747-7014747 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.817C>T; p.P273S; 2:7039698-7039698 |
skin | malignant_melanoma | Substitution - Missense |
c.658-2A>G; p.?; 2:7030124-7030124 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.292T>A; p.F98I; 2:7014763-7014763 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.288A>G; p.L96L; 2:7014759-7014759 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.757_758insT; p.A255fs*30; 2:7039638-7039639 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.42C>T; p.L14L; 2:6996968-6996968 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.14G>C; p.R5T; 2:6996940-6996940 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.172G>T; p.G58*; 2:7014490-7014490 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.225C>T; p.H75H; 2:7014543-7014543 |
skin | malignant_melanoma | Substitution - coding silent |
c.438C>A; p.C146*; 2:7020609-7020609 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Nonsense |
c.283A>G; p.K95E; 2:7014754-7014754 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.179A>T; p.E60V; 2:7014497-7014497 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.539C>T; p.A180V; 2:7024398-7024398 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.580C>T; p.R194*; 2:7024439-7024439 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.499G>A; p.G167R; 2:7020670-7020670 |
breast | carcinoma | Substitution - Missense |
c.697C>T; p.R233W; 2:7030165-7030165 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.787G>A; p.V263M; 2:7039668-7039668 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.778C>A; p.L260M; 2:7039659-7039659 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.362A>C; p.Q121P; 2:7020533-7020533 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.482C>G; p.P161R; 2:7020653-7020653 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.184G>T; p.A62S; 2:7014502-7014502 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.730A>G; p.I244V; 2:7030198-7030198 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.71T>C; p.L24P; 2:6996997-6996997 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.751G>A; p.V251M; 2:7039632-7039632 |
breast | carcinoma | Substitution - Missense |
c.47C>T; p.P16L; 2:6996973-6996973 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.47C>T; p.P16L; 2:6996973-6996973 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.154G>A; p.E52K; 2:7014472-7014472 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.322C>T; p.R108W; 2:7020493-7020493 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.131C>T; p.T44I; 2:6997057-6997057 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.588A>G; p.E196E; 2:7024447-7024447 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.588A>G; p.E196E; 2:7024447-7024447 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.583G>C; p.D195H; 2:7024442-7024442 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.661G>A; p.D221N; 2:7030129-7030129 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.661G>A; p.D221N; 2:7030129-7030129 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.781C>T; p.L261F; 2:7039662-7039662 |
skin | malignant_melanoma | Substitution - Missense |
c.687G>T; p.K229N; 2:7030155-7030155 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.112T>C; p.C38R; 2:6997038-6997038 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.19C>T; p.R7W; 2:6996945-6996945 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.807C>T; p.L269L; 2:7039688-7039688 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.13A>C; p.R5R; 2:6996939-6996939 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.563G>T; p.C188F; 2:7024422-7024422 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.295G>T; p.E99*; 2:7014766-7014766 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.410C>A; p.A137D; 2:7020581-7020581 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.710G>A; p.G237D; 2:7030178-7030178 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.608G>T; p.C203F; 2:7024467-7024467 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.604A>G; p.M202V; 2:7024463-7024463 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.431C>T; p.S144F; 2:7020602-7020602 |
skin | malignant_melanoma | Substitution - Missense |