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

Basic Information

Gene ID

249

Name

ALPL

Synonymous

alkaline phosphatase, liver/bone/kidney;ALPL;alkaline phosphatase, liver/bone/kidney

Definition

alkaline phosphatase liver/bone/kidney isozyme|alkaline phosphatase, tissue-nonspecific isozyme|alkaline phosphomonoesterase|glycerophosphatase|liver/bone/kidney-type alkaline phosphatase|tissue-nonspecific ALP

Position

1p36.12

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 0.12.

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.1565T>C; p.V522A; 1:21577638-21577638

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1565T>C; p.V522A; 1:21577638-21577638

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.314C>T; p.A105V; 1:21563126-21563126

 skinmalignant_melanomaSubstitution - Missense

c.436G>A; p.E146K; 1:21563248-21563248

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.436G>A; p.E146K; 1:21563248-21563248

 skinmalignant_melanomaSubstitution - Missense

c.436G>A; p.E146K; 1:21563248-21563248

 skinmalignant_melanomaSubstitution - Missense

c.330T>C; p.S110S; 1:21563142-21563142

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.1039C>T; p.Q347*; 1:21575774-21575774

 breastcarcinoma; ductal_carcinomaSubstitution - Nonsense

c.820G>A; p.E274K; 1:21570332-21570332

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.820G>A; p.E274K; 1:21570332-21570332

 skinmalignant_melanomaSubstitution - Missense

c.1455G>A; p.A485A; 1:21577528-21577528

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1276G>A; p.G426S; 1:21576608-21576608

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1362C>T; p.H454H; 1:21577435-21577435

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.975A>T; p.K325N; 1:21573777-21573777

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.518delC; p.S175fs*23; 1:21564086-21564086

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.704A>G; p.E235G; 1:21568159-21568159

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.431G>A; p.G144E; 1:21563243-21563243

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1170C>T; p.P390P; 1:21575905-21575905

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.247G>A; p.E83K; 1:21561162-21561162

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1144G>A; p.V382I; 1:21575879-21575879

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.690_691insA; p.T232fs*2; 1:21568145-21568146

 oesophaguscarcinoma; adenocarcinomaInsertion - Frameshift

c.247G>A; p.E83K; 1:21561162-21561162

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1078G>A; p.G360R; 1:21575813-21575813

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1216G>A; p.D406N; 1:21576548-21576548

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.606G>A; p.K202K; 1:21564174-21564174

 skinmalignant_melanomaSubstitution - coding silent

c.1130C>T; p.A377V; 1:21575865-21575865

 prostatecarcinomaSubstitution - Missense

c.1348C>T; p.R450C; 1:21577421-21577421

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1130C>T; p.A377V; 1:21575865-21575865

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1130C>T; p.A377V; 1:21575865-21575865

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.412C>T; p.R138W; 1:21563224-21563224

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1098C>G; p.T366T; 1:21575833-21575833

 pancreascarcinoid-endocrine_tumourSubstitution - coding silent

c.1428G>C; p.E476D; 1:21577501-21577501

 thyroidother; neoplasmSubstitution - Missense

c.1186T>C; p.F396L; 1:21575921-21575921

 breastcarcinomaSubstitution - Missense

c.474G>A; p.G158G; 1:21564042-21564042

 skinmalignant_melanomaSubstitution - coding silent

c.474G>A; p.G158G; 1:21564042-21564042

 skinmalignant_melanomaSubstitution - coding silent

c.393C>T; p.S131S; 1:21563205-21563205

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.863-1G>C; p.?; 1:21573664-21573664

 pancreasother; adenomaUnknown

c.916G>A; p.D306N; 1:21573718-21573718

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.667C>T; p.R223W; 1:21568122-21568122

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.77C>T; p.P26L; 1:21560641-21560641

 skinmalignant_melanomaSubstitution - Missense

c.398C>A; p.A133D; 1:21563210-21563210

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1282C>T; p.R428*; 1:21576614-21576614

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.89G>A; p.R30Q; 1:21560653-21560653

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.89G>A; p.R30Q; 1:21560653-21560653

 skinmalignant_melanomaSubstitution - Missense

c.998-1G>A; p.?; 1:21575732-21575732

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.407G>A; p.R136H; 1:21563219-21563219

 breastcarcinomaSubstitution - Missense

c.212G>A; p.R71H; 1:21561127-21561127

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.792+1G>A; p.?; 1:21568248-21568248

 skinmalignant_melanomaUnknown

c.1159G>A; p.G387R; 1:21575894-21575894

 skin; armmalignant_melanomaSubstitution - Missense

c.570C>T; p.N190N; 1:21564138-21564138

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.432G>A; p.G144G; 1:21563244-21563244

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.910G>A; p.V304M; 1:21573712-21573712

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.430G>A; p.G144R; 1:21563242-21563242

 skinmalignant_melanomaSubstitution - Missense

c.1120G>A; p.V374M; 1:21575855-21575855

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.276C>T; p.F92F; 1:21561191-21561191

 skinmalignant_melanomaSubstitution - coding silent

c.1360C>A; p.H454N; 1:21577433-21577433

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.30T>C; p.I10I; 1:21554111-21554111

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1416C>T; p.H472H; 1:21577489-21577489

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.735G>A; p.T245T; 1:21568190-21568190

 skinmalignant_melanomaSubstitution - coding silent

c.1526G>A; p.G509D; 1:21577599-21577599

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.294C>T; p.S98S; 1:21561209-21561209

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.79A>G; p.K27E; 1:21560643-21560643

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.88C>T; p.R30*; 1:21560652-21560652

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1354G>A; p.E452K; 1:21577427-21577427

 skinmalignant_melanomaSubstitution - Missense

c.369C>A; p.A123A; 1:21563181-21563181

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.118G>A; p.A40T; 1:21560682-21560682

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.219_226delCAAGGGTC; p.K74fs*33; 1:21561134-21561141

 lungcarcinoma; small_cell_carcinomaDeletion - Frameshift

c.991G>T; p.V331L; 1:21573793-21573793

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.991G>T; p.V331L; 1:21573793-21573793

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.1484G>A; p.G495D; 1:21577557-21577557

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.414G>A; p.R138R; 1:21563226-21563226

 skinmalignant_melanomaSubstitution - coding silent

c.1353C>T; p.H451H; 1:21577426-21577426

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.870C>T; p.F290F; 1:21573672-21573672

 skinmalignant_melanomaSubstitution - coding silent

c.350A>G; p.Y117C; 1:21563162-21563162

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1446C>T; p.H482H; 1:21577519-21577519

 pancreascarcinomaSubstitution - coding silent

c.1367G>A; p.G456E; 1:21577440-21577440

 skinmalignant_melanomaSubstitution - Missense

c.758T>C; p.V253A; 1:21568213-21568213

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.1368G>A; p.G456G; 1:21577441-21577441

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.287C>T; p.A96V; 1:21561202-21561202

 skinmalignant_melanomaSubstitution - Missense

c.994G>A; p.E332K; 1:21573796-21573796

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.331_332insCCGGCA; p.T113_A114insGT; 1:21563143-21563144

 bone; tibiaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourInsertion - In frame

c.1060G>A; p.E354K; 1:21575795-21575795

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1372G>A; p.D458N; 1:21577445-21577445

 skinmalignant_melanomaSubstitution - Missense

c.788A>G; p.Y263C; 1:21568243-21568243

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1312C>T; p.H438Y; 1:21577385-21577385

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.509A>G; p.N170S; 1:21564077-21564077

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.657delG; p.G221fs*56; 1:21568112-21568112

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.535G>A; p.A179T; 1:21564103-21564103

 pancreascarcinomaSubstitution - Missense

c.535G>A; p.A179T; 1:21564103-21564103

 pancreascarcinomaSubstitution - Missense

c.381C>T; p.T127T; 1:21563193-21563193

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.381C>T; p.T127T; 1:21563193-21563193

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.863-7T>C; p.?; 1:21573658-21573658

 livercarcinomaUnknown

c.575T>C; p.M192T; 1:21564143-21564143

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1198_1199CC>TT; p.P400F; 1:21576530-21576531

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.936G>A; p.M312I; 1:21573738-21573738

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.787T>C; p.Y263H; 1:21568242-21568242

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1411C>T; p.L471L; 1:21577484-21577484

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.903G>A; p.R301R; 1:21573705-21573705

 skinmalignant_melanomaSubstitution - coding silent

c.1295C>T; p.S432F; 1:21576627-21576627

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1369G>A; p.E457K; 1:21577442-21577442

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.351C>T; p.Y117Y; 1:21563163-21563163

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.440T>G; p.V147G; 1:21563252-21563252

 thyroidother; neoplasmSubstitution - Missense

c.172C>T; p.L58L; 1:21560736-21560736

 skinmalignant_melanomaSubstitution - coding silent

c.1523C>A; p.A508E; 1:21577596-21577596

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.397G>A; p.A133T; 1:21563209-21563209

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.299C>T; p.T100M; 1:21563111-21563111

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.612C>T; p.I204I; 1:21564180-21564180

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.138C>T; p.L46L; 1:21560702-21560702

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1417G>A; p.G473S; 1:21577490-21577490

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1365C>T; p.G455G; 1:21577438-21577438

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.696T>C; p.T232T; 1:21568151-21568151

 lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.454C>T; p.R152C; 1:21563266-21563266

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.594C>T; p.S198S; 1:21564162-21564162

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.99G>A; p.A33A; 1:21560663-21560663

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.99G>A; p.A33A; 1:21560663-21560663

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.921G>A; p.P307P; 1:21573723-21573723

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.937G>A; p.V313M; 1:21573739-21573739

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.593G>A; p.S198N; 1:21564161-21564161

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.863-1G>T; p.?; 1:21573664-21573664

 kidneyother; neoplasmUnknown

c.446C>T; p.S149F; 1:21563258-21563258

 skinmalignant_melanomaSubstitution - Missense

c.278C>T; p.P93L; 1:21561193-21561193

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1101C>A; p.S367S; 1:21575836-21575836

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.693A>C; p.K231N; 1:21568148-21568148

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.291C>T; p.L97L; 1:21561206-21561206

 livercarcinomaSubstitution - coding silent

c.334G>T; p.G112C; 1:21563146-21563146

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1564G>A; p.V522I; 1:21577637-21577637

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1426G>C; p.E476Q; 1:21577499-21577499

 thyroidother; neoplasmSubstitution - Missense

c.1349G>A; p.R450H; 1:21577422-21577422

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1192C>A; p.L398M; 1:21576524-21576524

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1483G>A; p.G495S; 1:21577556-21577556

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1483G>A; p.G495S; 1:21577556-21577556

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.73G>T; p.D25Y; 1:21560637-21560637

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.29T>C; p.I10T; 1:21554110-21554110

 bone; femurEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.529G>T; p.A177S; 1:21564097-21564097

 livercarcinomaSubstitution - Missense

c.358G>A; p.G120R; 1:21563170-21563170

 skin; extremitymalignant_melanomaSubstitution - Missense

c.1541C>T; p.A514V; 1:21577614-21577614

 pancreascarcinomaSubstitution - Missense

c.945G>A; p.V315V; 1:21573747-21573747

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

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