| General information | Literature | Expression | Regulation | Variant | Interaction |
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Basic Information |
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Gene ID | 9025 |
Name | RNF8 |
Synonymous | ring finger protein 8, E3 ubiquitin protein ligase;RNF8;ring finger protein 8, E3 ubiquitin protein ligase |
Definition | C3HC4-type zinc finger protein|E3 ubiquitin-protein ligase RNF8|UBC13/UEV-interacting ring finger protein|ring finger protein (C3HC4 type) 8 |
Position | 6p21.3 |
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 0.03. |
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.877C>T; p.Q293*; 6:37369120-37369120 |
skin | malignant_melanoma | Substitution - Nonsense |
c.181C>A; p.R61R; 6:37360515-37360515 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.655C>T; p.P219S; 6:37368898-37368898 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.301C>A; p.H101N; 6:37368544-37368544 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.579T>G; p.G193G; 6:37368822-37368822 |
breast | carcinoma | Substitution - coding silent |
c.849G>T; p.K283N; 6:37369092-37369092 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.849G>T; p.K283N; 6:37369092-37369092 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.670T>A; p.F224I; 6:37368913-37368913 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.670T>A; p.F224I; 6:37368913-37368913 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.670T>A; p.F224I; 6:37368913-37368913 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.670T>A; p.F224I; 6:37368913-37368913 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.670T>A; p.F224I; 6:37368913-37368913 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.670T>A; p.F224I; 6:37368913-37368913 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.976G>T; p.G326C; 6:37371512-37371512 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1343C>G; p.T448R; 6:37381256-37381256 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1214T>G; p.I405S; 6:37377011-37377011 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.172A>G; p.M58V; 6:37360506-37360506 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1455C>T; p.F485F; 6:37390755-37390755 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1455C>T; p.F485F; 6:37390755-37390755 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.410_411CC>TT; p.S137F; 6:37368653-37368654 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.410C>T; p.S137F; 6:37368653-37368653 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.575A>G; p.K192R; 6:37368818-37368818 |
breast | carcinoma | Substitution - Missense |
c.388G>C; p.E130Q; 6:37368631-37368631 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.301C>T; p.H101Y; 6:37368544-37368544 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1313C>T; p.P438L; 6:37381226-37381226 |
skin | malignant_melanoma | Substitution - Missense |
c.361G>T; p.E121*; 6:37368604-37368604 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.319C>T; p.Q107*; 6:37368562-37368562 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1011G>T; p.K337N; 6:37371547-37371547 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.151G>A; p.V51I; 6:37360485-37360485 |
pancreas | carcinoma | Substitution - Missense |
c.1128G>T; p.K376N; 6:37374709-37374709 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.319C>T; p.Q107*; 6:37368562-37368562 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Nonsense |
c.809T>C; p.V270A; 6:37369052-37369052 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.761C>T; p.S254F; 6:37369004-37369004 |
skin | malignant_melanoma | Substitution - Missense |
c.1415G>A; p.R472Q; 6:37381328-37381328 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.481T>A; p.L161I; 6:37368724-37368724 |
skin | malignant_melanoma | Substitution - Missense |
c.707C>T; p.A236V; 6:37368950-37368950 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.769C>T; p.L257L; 6:37369012-37369012 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.430A>G; p.I144V; 6:37368673-37368673 |
stomach | adenocarcinoma | Substitution - Missense |
c.503G>A; p.G168D; 6:37368746-37368746 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1453T>C; p.F485L; 6:37390753-37390753 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1453T>C; p.F485L; 6:37390753-37390753 |
large_intestine; rectum | NS | Substitution - Missense |
c.1159G>A; p.E387K; 6:37376956-37376956 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.597C>T; p.P199P; 6:37368840-37368840 |
skin | malignant_melanoma | Substitution - coding silent |
c.271C>T; p.R91C; 6:37368514-37368514 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.597C>T; p.P199P; 6:37368840-37368840 |
skin | malignant_melanoma | Substitution - coding silent |
c.966G>A; p.Q322Q; 6:37369209-37369209 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1376A>C; p.K459T; 6:37381289-37381289 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.745T>C; p.F249L; 6:37368988-37368988 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.240G>T; p.K80N; 6:37360574-37360574 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.194delT; p.L66fs*1; 6:37360528-37360528 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.876T>G; p.L292L; 6:37369119-37369119 |
kidney | other; neoplasm | Substitution - coding silent |
c.1230C>A; p.F410L; 6:37377027-37377027 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1414C>T; p.R472*; 6:37381327-37381327 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.178T>C; p.S60P; 6:37360512-37360512 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.418A>G; p.N140D; 6:37368661-37368661 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.229A>G; p.M77V; 6:37360563-37360563 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.815A>G; p.N272S; 6:37369058-37369058 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.233_235delACA; p.N79delN; 6:37360567-37360569 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - In frame |
c.1425C>T; p.L475L; 6:37381338-37381338 |
skin | malignant_melanoma | Substitution - coding silent |
c.627C>T; p.A209A; 6:37368870-37368870 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.230T>C; p.M77T; 6:37360564-37360564 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.433_434insA; p.N147fs*2; 6:37368676-37368677 |
bone; pelvis | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Insertion - Frameshift |
c.586G>A; p.A196T; 6:37368829-37368829 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1132G>C; p.E378Q; 6:37376929-37376929 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.586G>A; p.A196T; 6:37368829-37368829 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1067G>A; p.R356H; 6:37374648-37374648 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1442-1G>A; p.?; 6:37390741-37390741 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.168C>T; p.P56P; 6:37360502-37360502 |
skin | malignant_melanoma | Substitution - coding silent |
c.1355T>C; p.V452A; 6:37381268-37381268 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.266G>A; p.R89K; 6:37368509-37368509 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1236+2T>G; p.?; 6:37377035-37377035 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.910G>T; p.A304S; 6:37369153-37369153 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.211G>A; p.E71K; 6:37360545-37360545 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.944A>C; p.K315T; 6:37369187-37369187 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1187T>A; p.V396E; 6:37376984-37376984 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.1145T>C; p.M382T; 6:37376942-37376942 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.617A>G; p.K206R; 6:37368860-37368860 |
skin | malignant_melanoma | Substitution - Missense |
c.812T>G; p.M271R; 6:37369055-37369055 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.241-3C>G; p.?; 6:37368481-37368481 |
lung | carcinoma; small_cell_carcinoma | Unknown |
c.405T>C; p.C135C; 6:37368648-37368648 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1374T>C; p.N458N; 6:37381287-37381287 |
breast | carcinoma | Substitution - coding silent |
c.1066C>T; p.R356C; 6:37374647-37374647 |
skin | malignant_melanoma | Substitution - Missense |
c.353C>T; p.A118V; 6:37368596-37368596 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.631G>C; p.E211Q; 6:37368874-37368874 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1132G>T; p.E378*; 6:37376929-37376929 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |