| General information | Literature | Expression | Regulation | Variant | Interaction |
|
Basic Information |
|
|---|---|
Gene ID | 54206 |
Name | ERRFI1 |
Synonymous | ERBB receptor feedback inhibitor 1;ERRFI1;ERBB receptor feedback inhibitor 1 |
Definition | mitogen-inducible gene 6 protein|receptor-associated late transducer |
Position | 1p36 |
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 |
 |
The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers | Top |
 |
 |
Loss of Function mutations compare to missense mutations | Top |
 |
| The ratio of the loss-of-function mutations over missense mutations is 0.31. |
The copy number variations for various cancers | Top |
 |
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.850C>A; p.P284T; 1:8013749-8013749 |
skin | malignant_melanoma | Substitution - Missense |
c.34A>G; p.R12G; 1:8015586-8015586 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.731G>A; p.R244Q; 1:8013868-8013868 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.580G>C; p.D194H; 1:8014019-8014019 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.316C>T; p.H106Y; 1:8014283-8014283 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1227A>T; p.K409N; 1:8013372-8013372 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.354C>A; p.L118L; 1:8014245-8014245 |
kidney | other; neoplasm | Substitution - coding silent |
c.1068C>T; p.P356P; 1:8013531-8013531 |
liver | carcinoma | Substitution - coding silent |
c.1058C>T; p.A353V; 1:8013541-8013541 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1068C>T; p.P356P; 1:8013531-8013531 |
liver | carcinoma | Substitution - coding silent |
c.58C>T; p.L20L; 1:8015562-8015562 |
skin | malignant_melanoma | Substitution - coding silent |
c.1379T>C; p.V460A; 1:8013220-8013220 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.550G>T; p.E184*; 1:8014049-8014049 |
liver | carcinoma | Substitution - Nonsense |
c.550G>T; p.E184*; 1:8014049-8014049 |
liver | carcinoma | Substitution - Nonsense |
c.550G>T; p.E184*; 1:8014049-8014049 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.1211T>G; p.L404R; 1:8013388-8013388 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1282G>T; p.A428S; 1:8013317-8013317 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1336delG; p.D446fs*6; 1:8013263-8013263 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.246A>T; p.A82A; 1:8014353-8014353 |
thyroid | carcinoma | Substitution - coding silent |
c.230A>C; p.N77T; 1:8014369-8014369 |
liver | carcinoma | Substitution - Missense |
c.1154A>T; p.N385I; 1:8013445-8013445 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1150G>T; p.E384*; 1:8013449-8013449 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1150G>T; p.E384*; 1:8013449-8013449 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1108G>A; p.E370K; 1:8013491-8013491 |
prostate | carcinoma | Substitution - Missense |
c.736_737insT; p.L246fs*13; 1:8013862-8013863 |
liver | carcinoma; hepatocellular_carcinoma | Insertion - Frameshift |
c.101G>C; p.W34S; 1:8015519-8015519 |
bone; femur | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.991C>T; p.R331C; 1:8013608-8013608 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.346A>T; p.K116*; 1:8014253-8014253 |
liver | carcinoma | Substitution - Nonsense |
c.346A>T; p.K116*; 1:8014253-8014253 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.166C>A; p.L56M; 1:8015344-8015344 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.621delC; p.N208fs*39; 1:8013978-8013978 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.1233delT; p.F411fs*41; 1:8013366-8013366 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1185C>T; p.Y395Y; 1:8013414-8013414 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.559A>G; p.T187A; 1:8014040-8014040 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.505T>C; p.C169R; 1:8014094-8014094 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1272G>A; p.Q424Q; 1:8013327-8013327 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.398delT; p.I133fs*42; 1:8014201-8014201 |
oesophagus | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.1322C>G; p.S441*; 1:8013277-8013277 |
breast | carcinoma | Substitution - Nonsense |
c.1322C>G; p.S441*; 1:8013277-8013277 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.920C>T; p.S307L; 1:8013679-8013679 |
skin | malignant_melanoma | Substitution - Missense |
c.920C>T; p.S307L; 1:8013679-8013679 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1358G>A; p.R453H; 1:8013241-8013241 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.404delA; p.N135fs*40; 1:8014195-8014195 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.404delA; p.N135fs*40; 1:8014195-8014195 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.404delA; p.N135fs*40; 1:8014195-8014195 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.404delA; p.N135fs*40; 1:8014195-8014195 |
stomach | adenocarcinoma | Deletion - Frameshift |
c.496G>A; p.D166N; 1:8014103-8014103 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.496G>A; p.D166N; 1:8014103-8014103 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1068C>A; p.P356P; 1:8013531-8013531 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1112G>A; p.G371E; 1:8013487-8013487 |
skin | malignant_melanoma | Substitution - Missense |
c.1258G>C; p.G420R; 1:8013341-8013341 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1129C>T; p.P377S; 1:8013470-8013470 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1225A>C; p.K409Q; 1:8013374-8013374 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.834_835insC; p.D279fs*4; 1:8013764-8013765 |
salivary_gland | carcinoma; adenoid_cystic_carcinoma | Insertion - Frameshift |
c.439G>A; p.E147K; 1:8014160-8014160 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.1269C>T; p.I423I; 1:8013330-8013330 |
liver | carcinoma | Substitution - coding silent |
c.1269C>T; p.I423I; 1:8013330-8013330 |
liver | carcinoma | Substitution - coding silent |
c.454C>A; p.P152T; 1:8014145-8014145 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.62A>G; p.H21R; 1:8015558-8015558 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.204G>A; p.G68G; 1:8014395-8014395 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.588T>C; p.P196P; 1:8014011-8014011 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1270C>T; p.Q424*; 1:8013329-8013329 |
skin | malignant_melanoma | Substitution - Nonsense |
c.715C>G; p.P239A; 1:8013884-8013884 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.911A>T; p.E304V; 1:8013688-8013688 |
haematopoietic_and_lymphoid_tissue; central_nervous_system | lymphoid_neoplasm; primary_central_nervous_system_lymphoma | Substitution - Missense |
c.359T>G; p.V120G; 1:8014240-8014240 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1261G>A; p.A421T; 1:8013338-8013338 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1261G>A; p.A421T; 1:8013338-8013338 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.530C>G; p.S177*; 1:8014069-8014069 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.981G>A; p.P327P; 1:8013618-8013618 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.981G>A; p.P327P; 1:8013618-8013618 |
skin | malignant_melanoma | Substitution - coding silent |
c.604C>T; p.R202C; 1:8013995-8013995 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.604C>T; p.R202C; 1:8013995-8013995 |
bone | osteosarcoma | Substitution - Missense |
c.1343G>A; p.G448D; 1:8013256-8013256 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.325G>A; p.D109N; 1:8014274-8014274 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.737_738insT; p.L246fs*13; 1:8013861-8013862 |
liver | carcinoma | Insertion - Frameshift |
c.490C>G; p.L164V; 1:8014109-8014109 |
liver | carcinoma | Substitution - Missense |
c.427G>A; p.A143T; 1:8014172-8014172 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.490C>G; p.L164V; 1:8014109-8014109 |
liver | carcinoma | Substitution - Missense |
c.68G>A; p.G23D; 1:8015552-8015552 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.603C>T; p.F201F; 1:8013996-8013996 |
skin | malignant_melanoma | Substitution - coding silent |
c.921G>A; p.S307S; 1:8013678-8013678 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |