| General information | Literature | Expression | Regulation | Variant | Interaction |
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Basic Information |
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|---|---|
Gene ID | 83989 |
Name | FAM172A |
Synonymous | family with sequence similarity 172, member A;FAM172A;family with sequence similarity 172, member A |
Definition | protein FAM172A |
Position | 5q15 |
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 0.06. |
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.833delT; p.F278fs*2; 5:93824221-93824221 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - Frameshift |
c.1218C>A; p.R406R; 5:93621020-93621020 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - coding silent |
c.1218C>A; p.R406R; 5:93621020-93621020 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.844G>A; p.A282T; 5:93824210-93824210 |
skin | malignant_melanoma | Substitution - Missense |
c.202A>T; p.N68Y; 5:94053132-94053132 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1180G>T; p.E394*; 5:93621058-93621058 |
thyroid | other; neoplasm | Substitution - Nonsense |
c.124G>T; p.D42Y; 5:94053210-94053210 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.793G>T; p.G265C; 5:93824261-93824261 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.366A>G; p.V122V; 5:93964467-93964467 |
liver | carcinoma | Substitution - coding silent |
c.366A>G; p.V122V; 5:93964467-93964467 |
liver | carcinoma | Substitution - coding silent |
c.779A>G; p.Y260C; 5:93881477-93881477 |
breast | carcinoma | Substitution - Missense |
c.444G>T; p.Q148H; 5:93958900-93958900 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.935A>G; p.N312S; 5:93784471-93784471 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.719G>A; p.R240Q; 5:93881537-93881537 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1036T>C; p.W346R; 5:93776231-93776231 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.55C>G; p.Q19E; 5:94074697-94074697 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.63G>A; p.Q21Q; 5:94074689-94074689 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.63G>A; p.Q21Q; 5:94074689-94074689 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.348T>C; p.D116D; 5:93964485-93964485 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.348T>C; p.D116D; 5:93964485-93964485 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.318G>A; p.T106T; 5:93964515-93964515 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.742C>T; p.R248C; 5:93881514-93881514 |
skin; neck | malignant_melanoma | Substitution - Missense |
c.148G>A; p.D50N; 5:94053186-94053186 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1006C>T; p.R336*; 5:93784400-93784400 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1006C>T; p.R336*; 5:93784400-93784400 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Nonsense |
c.1164C>A; p.F388L; 5:93621074-93621074 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1007G>A; p.R336Q; 5:93784399-93784399 |
breast | carcinoma | Substitution - Missense |
c.1164C>A; p.F388L; 5:93621074-93621074 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.572G>A; p.G191E; 5:93881684-93881684 |
skin | malignant_melanoma | Substitution - Missense |
c.57A>C; p.Q19H; 5:94074695-94074695 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.595C>T; p.P199S; 5:93881661-93881661 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.365T>A; p.V122E; 5:93964468-93964468 |
skin; neck | malignant_melanoma | Substitution - Missense |
c.415A>G; p.M139V; 5:93958929-93958929 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.309G>T; p.E103D; 5:94050731-94050731 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.126T>A; p.D42E; 5:94053208-94053208 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.691G>T; p.D231Y; 5:93881565-93881565 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.705A>G; p.K235K; 5:93881551-93881551 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.497C>T; p.A166V; 5:93958847-93958847 |
breast | carcinoma | Substitution - Missense |
c.96C>G; p.T32T; 5:94074656-94074656 |
skin | malignant_melanoma | Substitution - coding silent |
c.253A>C; p.N85H; 5:94050787-94050787 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.717G>T; p.K239N; 5:93881539-93881539 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.567+1G>A; p.?; 5:93958776-93958776 |
prostate | carcinoma; adenocarcinoma | Unknown |
c.1156T>G; p.F386V; 5:93621082-93621082 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1185C>G; p.A395A; 5:93621053-93621053 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.958A>G; p.T320A; 5:93784448-93784448 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1114G>A; p.D372N; 5:93621124-93621124 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.619G>T; p.E207*; 5:93881637-93881637 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1074G>T; p.E358D; 5:93776193-93776193 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.337C>T; p.L113L; 5:93964496-93964496 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.147A>C; p.K49N; 5:94053187-94053187 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.893C>T; p.A298V; 5:93824161-93824161 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.652G>C; p.D218H; 5:93881604-93881604 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.408T>C; p.F136F; 5:93958936-93958936 |
skin | malignant_melanoma | Substitution - coding silent |
c.511A>G; p.I171V; 5:93958833-93958833 |
liver | carcinoma | Substitution - Missense |
c.511A>G; p.I171V; 5:93958833-93958833 |
liver | carcinoma | Substitution - Missense |
c.373C>T; p.P125S; 5:93964460-93964460 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1001C>T; p.T334M; 5:93784405-93784405 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1001C>T; p.T334M; 5:93784405-93784405 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.867C>T; p.F289F; 5:93824187-93824187 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.867C>T; p.F289F; 5:93824187-93824187 |
skin | malignant_melanoma | Substitution - coding silent |
c.867C>T; p.F289F; 5:93824187-93824187 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1208C>T; p.A403V; 5:93621030-93621030 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.678A>C; p.K226N; 5:93881578-93881578 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.727T>C; p.F243L; 5:93881529-93881529 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.545C>T; p.P182L; 5:93958799-93958799 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1125G>A; p.E375E; 5:93621113-93621113 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.278G>T; p.W93L; 5:94050762-94050762 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1159A>T; p.K387*; 5:93621079-93621079 |
ovary | other; neoplasm | Substitution - Nonsense |
c.434C>G; p.T145R; 5:93958910-93958910 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.97G>T; p.A33S; 5:94074655-94074655 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.793G>C; p.G265R; 5:93824261-93824261 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1196C>T; p.S399F; 5:93621042-93621042 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.106+2T>C; p.?; 5:94074644-94074644 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.1196C>T; p.S399F; 5:93621042-93621042 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.680G>A; p.R227Q; 5:93881576-93881576 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1077C>T; p.S359S; 5:93776190-93776190 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.156G>A; p.P52P; 5:94053178-94053178 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1248_1249delGT; p.*417fs?; 5:93620989-93620990 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.7A>C; p.I3L; 5:94074745-94074745 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |