| General information | Literature | Expression | Regulation | Variant | Interaction |
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Basic Information |
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|---|---|
Gene ID | 285671 |
Name | RNF180 |
Synonymous | ring finger protein 180;RNF180;ring finger protein 180 |
Definition | E3 ubiquitin-protein ligase RNF180 |
Position | 5q12.3 |
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 0.08. |
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.166_167insT; p.C57fs*42; 5:64212095-64212096 |
lung | carcinoma; small_cell_carcinoma | Insertion - Frameshift |
c.62G>A; p.R21H; 5:64200869-64200869 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.62G>A; p.R21H; 5:64200869-64200869 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.550C>T; p.L184L; 5:64213876-64213876 |
bone; fibula | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.788C>A; p.P263H; 5:64214114-64214114 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.199C>T; p.L67F; 5:64212128-64212128 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.805T>G; p.L269V; 5:64214131-64214131 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.610G>T; p.E204*; 5:64213936-64213936 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.657C>T; p.C219C; 5:64213983-64213983 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.267C>T; p.F89F; 5:64213593-64213593 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.131T>C; p.I44T; 5:64200938-64200938 |
ovary | other; neoplasm | Substitution - Missense |
c.752A>C; p.K251T; 5:64214078-64214078 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1167G>A; p.R389R; 5:64214493-64214493 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1167G>A; p.R389R; 5:64214493-64214493 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.361G>T; p.D121Y; 5:64213687-64213687 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.284G>T; p.G95V; 5:64213610-64213610 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.925G>A; p.E309K; 5:64214251-64214251 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.679A>G; p.K227E; 5:64214005-64214005 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.418C>T; p.H140Y; 5:64213744-64213744 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.443A>G; p.D148G; 5:64213769-64213769 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.994C>A; p.L332M; 5:64214320-64214320 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1175G>C; p.R392T; 5:64214501-64214501 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.673C>A; p.H225N; 5:64213999-64213999 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.263C>T; p.P88L; 5:64213589-64213589 |
skin | malignant_melanoma | Substitution - Missense |
c.651C>A; p.G217G; 5:64213977-64213977 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1068C>T; p.D356D; 5:64214394-64214394 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.722T>C; p.L241S; 5:64214048-64214048 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1130G>A; p.R377K; 5:64214456-64214456 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.594G>T; p.L198L; 5:64213920-64213920 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.142G>A; p.D48N; 5:64212071-64212071 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.560G>A; p.R187Q; 5:64213886-64213886 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.1095G>A; p.L365L; 5:64214421-64214421 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.836C>T; p.S279F; 5:64214162-64214162 |
skin | malignant_melanoma | Substitution - Missense |
c.569A>G; p.Y190C; 5:64213895-64213895 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1172A>C; p.E391A; 5:64214498-64214498 |
pancreas | carcinoma | Substitution - Missense |
c.1172A>C; p.E391A; 5:64214498-64214498 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.247G>A; p.G83R; 5:64213573-64213573 |
skin | malignant_melanoma | Substitution - Missense |
c.61C>T; p.R21C; 5:64200868-64200868 |
skin | malignant_melanoma | Substitution - Missense |
c.248G>A; p.G83E; 5:64213574-64213574 |
skin | malignant_melanoma | Substitution - Missense |
c.61C>T; p.R21C; 5:64200868-64200868 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.61C>T; p.R21C; 5:64200868-64200868 |
skin | malignant_melanoma | Substitution - Missense |
c.61C>T; p.R21C; 5:64200868-64200868 |
stomach | adenocarcinoma | Substitution - Missense |
c.61C>T; p.R21C; 5:64200868-64200868 |
skin | malignant_melanoma | Substitution - Missense |
c.89C>A; p.A30E; 5:64200896-64200896 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.61C>T; p.R21C; 5:64200868-64200868 |
skin | malignant_melanoma | Substitution - Missense |
c.279T>C; p.R93R; 5:64213605-64213605 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.770G>A; p.R257K; 5:64214096-64214096 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.541G>T; p.A181S; 5:64213867-64213867 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.21G>C; p.L7F; 5:64200828-64200828 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.509G>A; p.R170Q; 5:64213835-64213835 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.509G>A; p.R170Q; 5:64213835-64213835 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3G>A; p.M1I; 5:64200810-64200810 |
skin | malignant_melanoma | Substitution - Missense |
c.527G>A; p.G176E; 5:64213853-64213853 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1037C>T; p.S346L; 5:64214363-64214363 |
breast | carcinoma | Substitution - Missense |
c.491G>T; p.R164M; 5:64213817-64213817 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.120G>C; p.E40D; 5:64200927-64200927 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.767C>T; p.S256F; 5:64214093-64214093 |
skin | malignant_melanoma | Substitution - Missense |
c.831C>T; p.S277S; 5:64214157-64214157 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.16G>T; p.E6*; 5:64200823-64200823 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1155G>A; p.R385R; 5:64214481-64214481 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1101C>T; p.S367S; 5:64214427-64214427 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.564A>G; p.P188P; 5:64213890-64213890 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.317C>T; p.S106F; 5:64213643-64213643 |
skin | malignant_melanoma | Substitution - Missense |
c.10A>C; p.S4R; 5:64200817-64200817 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.32A>C; p.N11T; 5:64200839-64200839 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.158C>T; p.A53V; 5:64212087-64212087 |
large_intestine | adenoma | Substitution - Missense |
c.173A>T; p.H58L; 5:64212102-64212102 |
large_intestine | adenoma | Substitution - Missense |
c.595C>T; p.L199L; 5:64213921-64213921 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.859G>A; p.D287N; 5:64214185-64214185 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1068C>A; p.D356E; 5:64214394-64214394 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.878A>G; p.Q293R; 5:64214204-64214204 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.71A>G; p.K24R; 5:64200878-64200878 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.661A>G; p.T221A; 5:64213987-64213987 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.768C>A; p.S256S; 5:64214094-64214094 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.303C>A; p.S101R; 5:64213629-64213629 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.232-1G>A; p.?; 5:64213557-64213557 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Unknown |
c.1030G>A; p.E344K; 5:64214356-64214356 |
skin; scalp | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.625C>G; p.L209V; 5:64213951-64213951 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.167T>C; p.I56T; 5:64212096-64212096 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.163A>C; p.N55H; 5:64212092-64212092 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1075C>T; p.H359Y; 5:64214401-64214401 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.832T>G; p.Y278D; 5:64214158-64214158 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.832T>A; p.Y278N; 5:64214158-64214158 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.973A>G; p.N325D; 5:64214299-64214299 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.409T>C; p.Y137H; 5:64213735-64213735 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.973A>G; p.N325D; 5:64214299-64214299 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.684A>G; p.S228S; 5:64214010-64214010 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.683C>A; p.S228*; 5:64214009-64214009 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.683C>A; p.S228*; 5:64214009-64214009 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Nonsense |