Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)
bioinfom_tsdb
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

2271

Name

FH

Synonymous

fumarate hydratase;FH;fumarate hydratase

Definition

fumarase|fumarate hydratase, mitochondrial

Position

1q42.1

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

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We used uniprot protein structure data from ensemble BioMart database. The size of circle shows the relative mutation number.

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

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The non-synonymous mutational pattern in 17 major cancer types.
The synonymous mutational pattern in 17 major cancer types.

Loss of Function mutations compare to missense mutations

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Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.11.

The copy number variations for various cancers

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The copy number variations in 17 major cancer groups: 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; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

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.892G>T; p.A298S; 1:241506015-241506015

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1077T>C; p.P359P; 1:241504073-241504073

 livercarcinomaSubstitution - coding silent

c.1302C>T; p.C434C; 1:241500525-241500525

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.1379A>G; p.N460S; 1:241500448-241500448

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.535G>A; p.D179N; 1:241511987-241511987

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.535G>A; p.D179N; 1:241511987-241511987

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1390+8T>A; p.?; 1:241500429-241500429

 kidneyother; neoplasmUnknown

c.1489T>C; p.F497L; 1:241497872-241497872

 skinmalignant_melanomaSubstitution - Missense

c.848T>C; p.L283S; 1:241506059-241506059

 breastcarcinomaSubstitution - Missense

c.1371A>T; p.T457T; 1:241500456-241500456

 lungcarcinoma; non_small_cell_carcinomaSubstitution - coding silent

c.146C>T; p.S49F; 1:241517303-241517303

 skinmalignant_melanomaSubstitution - Missense

c.146C>T; p.S49F; 1:241517303-241517303

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.942T>C; p.A314A; 1:241504208-241504208

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.379-1G>A; p.?; 1:241512144-241512144

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.207C>T; p.G69G; 1:241517242-241517242

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1494C>T; p.D498D; 1:241497867-241497867

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1196G>T; p.S399I; 1:241502483-241502483

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.309C>T; p.A103A; 1:241513672-241513672

 breastcarcinomaSubstitution - coding silent

c.1459A>G; p.I487V; 1:241497902-241497902

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.620T>C; p.L207P; 1:241508721-241508721

 pancreascarcinomaSubstitution - Missense

c.1326A>G; p.T442T; 1:241500501-241500501

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1409A>G; p.K470R; 1:241497952-241497952

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1128G>T; p.Q376H; 1:241502551-241502551

 thyroidcarcinomaSubstitution - Missense

c.983T>C; p.M328T; 1:241504167-241504167

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1132G>T; p.E378*; 1:241502547-241502547

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.953A>G; p.H318R; 1:241504197-241504197

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.807C>A; p.I269I; 1:241506100-241506100

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.253A>G; p.T85A; 1:241517196-241517196

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1303G>A; p.V435M; 1:241500524-241500524

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.704A>G; p.H235R; 1:241508637-241508637

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1324A>T; p.T442S; 1:241500503-241500503

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.260G>A; p.R87H; 1:241517189-241517189

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1256C>T; p.S419L; 1:241500571-241500571

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1305G>T; p.V435V; 1:241500522-241500522

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.267+10A>T; p.?; 1:241517172-241517172

 livercarcinomaUnknown

c.267+10A>T; p.?; 1:241517172-241517172

 livercarcinomaUnknown

c.1357C>G; p.L453V; 1:241500470-241500470

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.885A>G; p.A295A; 1:241506022-241506022

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1370C>A; p.T457K; 1:241500457-241500457

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.501T>C; p.G167G; 1:241512021-241512021

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.151C>T; p.R51W; 1:241517298-241517298

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.958G>A; p.A320T; 1:241504192-241504192

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.884C>T; p.A295V; 1:241506023-241506023

 biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - Missense

c.1247T>C; p.V416A; 1:241500580-241500580

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1247T>C; p.V416A; 1:241500580-241500580

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1155C>T; p.A385A; 1:241502524-241502524

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.738G>T; p.Q246H; 1:241508603-241508603

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1165G>T; p.G389W; 1:241502514-241502514

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.881C>T; p.A294V; 1:241506026-241506026

 skin; abdomenmalignant_melanomaSubstitution - Missense

c.1165G>T; p.G389W; 1:241502514-241502514

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1369A>G; p.T457A; 1:241500458-241500458

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1369A>G; p.T457A; 1:241500458-241500458

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1369A>G; p.T457A; 1:241500458-241500458

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1273G>C; p.D425H; 1:241500554-241500554

 skinmalignant_melanomaSubstitution - Missense

c.289G>A; p.G97S; 1:241513692-241513692

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.468C>T; p.V156V; 1:241512054-241512054

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.307G>A; p.A103T; 1:241513674-241513674

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.442C>G; p.Q148E; 1:241512080-241512080

 breastcarcinomaSubstitution - Missense

c.208G>A; p.A70T; 1:241517241-241517241

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.511A>T; p.S171C; 1:241512011-241512011

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1334T>G; p.I445S; 1:241500493-241500493

 skinmalignant_melanomaSubstitution - Missense

c.1246G>C; p.V416L; 1:241500581-241500581

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.54A>G; p.P18P; 1:241519669-241519669

 ovaryother; neoplasmSubstitution - coding silent

c.573T>C; p.F191F; 1:241508768-241508768

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1280C>T; p.S427L; 1:241500547-241500547

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1371A>G; p.T457T; 1:241500456-241500456

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1315C>T; p.Q439*; 1:241500512-241500512

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Nonsense

c.1309G>T; p.G437*; 1:241500518-241500518

 oesophagus; upper_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1188C>A; p.V396V; 1:241502491-241502491

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.227C>T; p.T76M; 1:241517222-241517222

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.372A>T; p.A124A; 1:241513609-241513609

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.227C>T; p.T76M; 1:241517222-241517222

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1052C>A; p.S351*; 1:241504098-241504098

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1308G>T; p.V436V; 1:241500519-241500519

 oesophagus; upper_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1246G>A; p.V416M; 1:241500581-241500581

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.163G>A; p.D55N; 1:241517286-241517286

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1273G>T; p.D425Y; 1:241500554-241500554

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1051T>A; p.S351T; 1:241504099-241504099

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.204T>G; p.Y68*; 1:241517245-241517245

 breastcarcinomaSubstitution - Nonsense

c.1325C>G; p.T442R; 1:241500502-241500502

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.844G>A; p.G282S; 1:241506063-241506063

 skinmalignant_melanomaSubstitution - Missense

c.483A>G; p.A161A; 1:241512039-241512039

 livercarcinomaSubstitution - coding silent

c.1077T>A; p.P359P; 1:241504073-241504073

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1027C>T; p.R343*; 1:241504123-241504123

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1461C>T; p.I487I; 1:241497900-241497900

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.904+2T>G; p.?; 1:241506001-241506001

 skinmalignant_melanomaUnknown

c.278T>A; p.I93N; 1:241513703-241513703

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1391G>T; p.G464V; 1:241497970-241497970

 lungcarcinomaSubstitution - Missense

c.1391G>T; p.G464V; 1:241497970-241497970

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.402_403TC>AT; p.D134_H135>EY; 1:241512119-241512120

 lungcarcinoma; adenocarcinomaComplex - compound substitution

c.148T>A; p.F50I; 1:241517301-241517301

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1108+6C>T; p.?; 1:241504036-241504036

 biliary_tract; gallbladdercarcinoma; adenocarcinomaUnknown

c.977G>A; p.G326E; 1:241504173-241504173

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.359T>A; p.I120K; 1:241513622-241513622

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.899T>A; p.L300H; 1:241506008-241506008

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

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