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

Basic Information

Gene ID

8854

Name

ALDH1A2

Synonymous

aldehyde dehydrogenase 1 family, member A2;ALDH1A2;aldehyde dehydrogenase 1 family, member A2

Definition

RALDH 2|retinal dehydrogenase 2|retinaldehyde-specific dehydrogenase type 2

Position

15q21.3

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

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

Top

Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.02.

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.62C>T; p.A21V; 15:58065589-58065589

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1474G>A; p.G492R; 15:57960780-57960780

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.46C>A; p.P16T; 15:58065605-58065605

 breastcarcinomaSubstitution - Missense

c.1474G>A; p.G492R; 15:57960780-57960780

 skinmalignant_melanomaSubstitution - Missense

c.697C>T; p.P233S; 15:57992806-57992806

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.426C>A; p.G142G; 15:58010716-58010716

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.701G>A; p.G234E; 15:57992802-57992802

 skinmalignant_melanomaSubstitution - Missense

c.1485G>T; p.M495I; 15:57955269-57955269

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.670G>A; p.A224T; 15:57992959-57992959

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.264C>A; p.F88L; 15:58013957-58013957

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1110G>T; p.K370N; 15:57962153-57962153

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.333C>T; p.D111D; 15:58013888-58013888

 skinmalignant_melanomaSubstitution - coding silent

c.80C>T; p.P27L; 15:58065571-58065571

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.523G>A; p.E175K; 15:57995110-57995110

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.523G>A; p.E175K; 15:57995110-57995110

 skinmalignant_melanomaSubstitution - Missense

c.892G>T; p.D298Y; 15:57965734-57965734

 skinmalignant_melanomaSubstitution - Missense

c.1378G>T; p.V460L; 15:57961168-57961168

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1525G>A; p.V509M; 15:57955229-57955229

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.813C>T; p.I271I; 15:57965813-57965813

 skinmalignant_melanomaSubstitution - coding silent

c.1042G>A; p.V348I; 15:57963929-57963929

 thyroidother; neoplasmSubstitution - Missense

c.1042G>A; p.V348I; 15:57963929-57963929

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1042G>A; p.V348I; 15:57963929-57963929

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.254G>A; p.R85H; 15:58013967-58013967

 pancreascarcinomaSubstitution - Missense

c.254G>A; p.R85H; 15:58013967-58013967

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.198G>C; p.V66V; 15:58014201-58014201

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.442C>T; p.R148*; 15:58010700-58010700

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.442C>T; p.R148*; 15:58010700-58010700

 skinmalignant_melanomaSubstitution - Nonsense

c.442C>T; p.R148*; 15:58010700-58010700

 skinmalignant_melanomaSubstitution - Nonsense

c.442C>T; p.R148*; 15:58010700-58010700

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.65C>T; p.S22L; 15:58065586-58065586

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.549C>T; p.I183I; 15:57995084-57995084

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1203C>A; p.P401P; 15:57962060-57962060

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1203C>A; p.P401P; 15:57962060-57962060

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1368G>A; p.K456K; 15:57961178-57961178

 lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.734C>T; p.T245M; 15:57992769-57992769

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1427C>T; p.A476V; 15:57960827-57960827

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1480G>A; p.E494K; 15:57960774-57960774

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.132C>T; p.N44N; 15:58014267-58014267

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.132C>T; p.N44N; 15:58014267-58014267

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1105A>G; p.N369D; 15:57962158-57962158

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.293A>G; p.D98G; 15:58013928-58013928

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1524G>T; p.T508T; 15:57955230-57955230

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.667G>A; p.G223R; 15:57992962-57992962

 skinmalignant_melanomaSubstitution - Missense

c.499G>T; p.D167Y; 15:57995134-57995134

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1293G>T; p.M431I; 15:57961253-57961253

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.344G>C; p.R115P; 15:58013877-58013877

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.414G>A; p.V138V; 15:58010728-58010728

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.682G>C; p.E228Q; 15:57992947-57992947

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.902-2A>G; p.?; 15:57964071-57964071

 large_intestine; caecumcarcinoma; adenocarcinomaUnknown

c.311G>A; p.R104H; 15:58013910-58013910

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.253C>T; p.R85C; 15:58013968-58013968

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1039C>T; p.R347C; 15:57963932-57963932

 skinmalignant_melanomaSubstitution - Missense

c.1039C>T; p.R347C; 15:57963932-57963932

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1039C>T; p.R347C; 15:57963932-57963932

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1335C>T; p.L445L; 15:57961211-57961211

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.426C>T; p.G142G; 15:58010716-58010716

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1179C>T; p.G393G; 15:57962084-57962084

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.610G>T; p.G204C; 15:57993019-57993019

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.319G>A; p.D107N; 15:58013902-58013902

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.319G>A; p.D107N; 15:58013902-58013902

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.217G>C; p.D73H; 15:58014182-58014182

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1146C>T; p.G382G; 15:57962117-57962117

 central_nervous_system; braingliomaSubstitution - coding silent

c.1027C>T; p.R343W; 15:57963944-57963944

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.71A>T; p.H24L; 15:58065580-58065580

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1027C>T; p.R343W; 15:57963944-57963944

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.973C>T; p.R325C; 15:57963998-57963998

 skinmalignant_melanomaSubstitution - Missense

c.973C>T; p.R325C; 15:57963998-57963998

 skinmalignant_melanomaSubstitution - Missense

c.571C>T; p.L191L; 15:57993058-57993058

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.434A>T; p.K145I; 15:58010708-58010708

 skinmalignant_melanomaSubstitution - Missense

c.463G>T; p.D155Y; 15:58010679-58010679

 skinmalignant_melanomaSubstitution - Missense

c.1234C>T; p.R412W; 15:57962029-57962029

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.1234C>T; p.R412W; 15:57962029-57962029

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.528C>T; p.P176P; 15:57995105-57995105

 skinmalignant_melanomaSubstitution - coding silent

c.882T>C; p.I294I; 15:57965744-57965744

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.397C>A; p.L133M; 15:58010745-58010745

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.678C>T; p.I226I; 15:57992951-57992951

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.389A>G; p.K130R; 15:58010753-58010753

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1029G>T; p.R343R; 15:57963942-57963942

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.30C>T; p.G10G; 15:58065621-58065621

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.884T>C; p.I295T; 15:57965742-57965742

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.427G>A; p.V143I; 15:58010715-58010715

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.427G>A; p.V143I; 15:58010715-58010715

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.63G>A; p.A21A; 15:58065588-58065588

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.358C>T; p.L120F; 15:58013863-58013863

 skinmalignant_melanomaSubstitution - Missense

c.653G>A; p.S218N; 15:57992976-57992976

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1040G>A; p.R347H; 15:57963931-57963931

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.73C>G; p.L25V; 15:58065578-58065578

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.547A>T; p.I183F; 15:57995086-57995086

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1047G>T; p.V349V; 15:57963924-57963924

 autonomic_ganglianeuroblastomaSubstitution - coding silent

c.1063C>A; p.P355T; 15:57963908-57963908

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1435G>A; p.A479T; 15:57960819-57960819

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1171_1172insA; p.G391fs*10; 15:57962091-57962092

 skin; head_neckcarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.276A>G; p.S92S; 15:58013945-58013945

 NSNSSubstitution - coding silent

c.1410-1G>T; p.?; 15:57960845-57960845

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.443G>A; p.R148Q; 15:58010699-58010699

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.567C>T; p.P189P; 15:57993062-57993062

 skinmalignant_melanomaSubstitution - coding silent

c.567C>T; p.P189P; 15:57993062-57993062

 skinmalignant_melanomaSubstitution - coding silent

c.641A>G; p.Q214R; 15:57992988-57992988

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1181G>A; p.R394Q; 15:57962082-57962082

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.339G>A; p.V113V; 15:58013882-58013882

 skinmalignant_melanomaSubstitution - coding silent

c.957C>G; p.C319W; 15:57964014-57964014

 oesophaguscarcinomaSubstitution - Missense

c.1245G>T; p.K415N; 15:57962018-57962018

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1248G>T; p.E416D; 15:57962015-57962015

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1409+1G>T; p.?; 15:57961136-57961136

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.1021G>A; p.V341M; 15:57963950-57963950

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1539C>T; p.I513I; 15:57955215-57955215

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.637G>C; p.E213Q; 15:57992992-57992992

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1380G>T; p.V460V; 15:57961166-57961166

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.683A>T; p.E228V; 15:57992946-57992946

 pancreascarcinomaSubstitution - Missense

c.683A>T; p.E228V; 15:57992946-57992946

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.52G>A; p.A18T; 15:58065599-58065599

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1070C>T; p.T357I; 15:57963901-57963901

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.52G>A; p.A18T; 15:58065599-58065599

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.52G>A; p.A18T; 15:58065599-58065599

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.100G>A; p.E34K; 15:58065551-58065551

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1542C>A; p.P514P; 15:57955212-57955212

 lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.159A>G; p.R53R; 15:58014240-58014240

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1280G>A; p.R427K; 15:57961266-57961266

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.771C>A; p.D257E; 15:57992732-57992732

 skinmalignant_melanomaSubstitution - Missense

c.1065C>A; p.P355P; 15:57963906-57963906

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1409+1G>A; p.?; 15:57961136-57961136

 skinmalignant_melanomaUnknown

c.1084C>A; p.Q362K; 15:57963887-57963887

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.558G>A; p.W186*; 15:57993071-57993071

 skinmalignant_melanomaSubstitution - Nonsense

c.558G>A; p.W186*; 15:57993071-57993071

 skinmalignant_melanomaSubstitution - Nonsense

c.651C>T; p.L217L; 15:57992978-57992978

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.477G>T; p.G159G; 15:58010665-58010665

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.651C>T; p.L217L; 15:57992978-57992978

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.81G>A; p.P27P; 15:58065570-58065570

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.518G>T; p.R173I; 15:57995115-57995115

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1554C>G; p.S518S; 15:57955200-57955200

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1281A>T; p.R427S; 15:57961265-57961265

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.700G>A; p.G234R; 15:57992803-57992803

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1020C>T; p.S340S; 15:57963951-57963951

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.320A>G; p.D107G; 15:58013901-58013901

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.320A>G; p.D107G; 15:58013901-58013901

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.518G>A; p.R173K; 15:57995115-57995115

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1446C>T; p.P482P; 15:57960808-57960808

 skinmalignant_melanomaSubstitution - coding silent

c.181G>A; p.A61T; 15:58014218-58014218

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.787G>T; p.G263W; 15:57992716-57992716

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.705C>A; p.V235V; 15:57992798-57992798

 breastcarcinomaSubstitution - coding silent

c.1277delT; p.L426fs*1; 15:57961269-57961269

 oesophaguscarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.535G>C; p.V179L; 15:57995098-57995098

 central_nervous_system; brainglioma; oligodendroglioma_Grade_IIISubstitution - Missense

c.846A>T; p.R282S; 15:57965780-57965780

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

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