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

Basic Information

Gene ID

847

Name

CAT

Synonymous

catalase;CAT;catalase

Definition

-

Position

11p13

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

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

Top

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 0.00.

The copy number variations for various cancers

Top

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.171C>T; p.F57F; 11:34449296-34449296

 autonomic_ganglianeuroblastomaSubstitution - coding silent

c.668T>G; p.V223G; 11:34453883-34453883

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.415G>T; p.E139*; 11:34452142-34452142

 bone; ribEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Nonsense

c.452C>T; p.P151L; 11:34452179-34452179

 skinmalignant_melanomaSubstitution - Missense

c.140G>A; p.R47H; 11:34449265-34449265

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.5C>A; p.A2D; 11:34439018-34439018

 livercarcinomaSubstitution - Missense

c.5C>A; p.A2D; 11:34439018-34439018

 livercarcinomaSubstitution - Missense

c.1331G>A; p.R444Q; 11:34468292-34468292

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.983A>G; p.E328G; 11:34456744-34456744

 livercarcinomaSubstitution - Missense

c.1321A>T; p.T441S; 11:34464230-34464230

 skinmalignant_melanomaSubstitution - Missense

c.616C>T; p.P206S; 11:34453831-34453831

 biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Missense

c.616C>T; p.P206S; 11:34453831-34453831

 skinmalignant_melanomaSubstitution - Missense

c.720G>A; p.Q240Q; 11:34456019-34456019

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1106A>G; p.N369S; 11:34461300-34461300

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1094G>T; p.R365L; 11:34461288-34461288

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.750G>A; p.A250A; 11:34456049-34456049

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1395C>T; p.G465G; 11:34468356-34468356

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.750G>A; p.A250A; 11:34456049-34456049

 oesophaguscarcinomaSubstitution - coding silent

c.1057-2A>G; p.?; 11:34461249-34461249

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.863A>G; p.Q288R; 11:34456162-34456162

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1056G>T; p.Q352H; 11:34456817-34456817

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1056G>T; p.Q352H; 11:34456817-34456817

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.159G>A; p.Q53Q; 11:34449284-34449284

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.1047A>T; p.K349N; 11:34456808-34456808

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1093C>T; p.R365C; 11:34461287-34461287

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.536C>T; p.P179L; 11:34453145-34453145

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1559C>T; p.A520V; 11:34471408-34471408

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1559C>T; p.A520V; 11:34471408-34471408

 breastcarcinomaSubstitution - Missense

c.514C>T; p.P172S; 11:34453123-34453123

 skinmalignant_melanomaSubstitution - Missense

c.886C>T; p.P296S; 11:34456185-34456185

 skinmalignant_melanomaSubstitution - Missense

c.972T>C; p.N324N; 11:34456733-34456733

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.451C>T; p.P151S; 11:34452178-34452178

 skinmalignant_melanomaSubstitution - Missense

c.733C>T; p.L245F; 11:34456032-34456032

 skinmalignant_melanomaSubstitution - Missense

c.233G>C; p.G78A; 11:34449358-34449358

 biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Missense

c.753G>A; p.A251A; 11:34456052-34456052

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1072T>C; p.Y358H; 11:34461266-34461266

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.988G>A; p.E330K; 11:34456749-34456749

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1087C>A; p.R363S; 11:34461281-34461281

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1087C>A; p.R363S; 11:34461281-34461281

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1494C>A; p.D498E; 11:34471017-34471017

 skinmalignant_melanomaSubstitution - Missense

c.1161G>T; p.Q387H; 11:34461355-34461355

 pancreasNSSubstitution - Missense

c.1030G>A; p.E344K; 11:34456791-34456791

 skinmalignant_melanomaSubstitution - Missense

c.1167C>T; p.D389D; 11:34461361-34461361

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.189T>C; p.H63H; 11:34449314-34449314

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1196-2A>G; p.?; 11:34464103-34464103

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.1061G>A; p.R354H; 11:34461255-34461255

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.335G>A; p.R112Q; 11:34451084-34451084

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.327C>T; p.I109I; 11:34451076-34451076

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1479C>G; p.I493M; 11:34471002-34471002

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.239-5G>A; p.?; 11:34450983-34450983

 stomachcarcinoma; adenocarcinomaUnknown

c.1344G>C; p.V448V; 11:34468305-34468305

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.820T>C; p.Y274H; 11:34456119-34456119

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.380G>A; p.R127Q; 11:34452107-34452107

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1428G>C; p.K476N; 11:34468389-34468389

 breastcarcinomaSubstitution - Missense

c.762C>T; p.S254S; 11:34456061-34456061

 stomachadenocarcinomaSubstitution - coding silent

c.849C>A; p.V283V; 11:34456148-34456148

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.822C>T; p.Y274Y; 11:34456121-34456121

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.891C>T; p.F297F; 11:34456190-34456190

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.116T>G; p.L39R; 11:34449241-34449241

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1377G>A; p.L459L; 11:34468338-34468338

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1087C>T; p.R363C; 11:34461281-34461281

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.146C>T; p.P49L; 11:34449271-34449271

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.703C>T; p.H235Y; 11:34453918-34453918

 skinmalignant_melanomaSubstitution - Missense

c.1388T>C; p.I463T; 11:34468349-34468349

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1003G>A; p.D335N; 11:34456764-34456764

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1196-1G>T; p.?; 11:34464104-34464104

 stomachcarcinoma; adenocarcinomaUnknown

c.334C>T; p.R112W; 11:34451083-34451083

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.288G>A; p.K96K; 11:34451037-34451037

 autonomic_ganglianeuroblastomaSubstitution - coding silent

c.289G>A; p.A97T; 11:34451038-34451038

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.260T>A; p.V87D; 11:34451009-34451009

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1547G>A; p.G516E; 11:34471396-34471396

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.529A>G; p.K177E; 11:34453138-34453138

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1000T>G; p.F334V; 11:34456761-34456761

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.146C>A; p.P49H; 11:34449271-34449271

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1088G>A; p.R363H; 11:34461282-34461282

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.711_711+1delGG; p.?; 11:34453926-34453927

 large_intestinecarcinoma; adenocarcinomaUnknown

c.1027A>G; p.I343V; 11:34456788-34456788

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.139C>G; p.R47G; 11:34449264-34449264

 breastcarcinomaSubstitution - Missense

c.638A>G; p.N213S; 11:34453853-34453853

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1434G>A; p.A478A; 11:34468395-34468395

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.749C>T; p.A250V; 11:34456048-34456048

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.261C>T; p.V87V; 11:34451010-34451010

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.173C>G; p.T58S; 11:34449298-34449298

 parathyroidcarcinomaSubstitution - Missense

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