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

Basic Information

Gene ID

55966

Name

AJAP1

Synonymous

adherens junctions associated protein 1;AJAP1;adherens junctions associated protein 1

Definition

adherens junction associated protein 1|adherens junction-associated protein 1|membrane protein shrew-1|transmembrane protein SHREW1

Position

1p36.32

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 0.08.

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.849C>A; p.I283I; 1:4769872-4769872

 lung; middle_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.653_655delCCA; p.T225delT; 1:4712523-4712525

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.1010C>T; p.S337L; 1:4772372-4772372

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.653_655delCCA; p.T225delT; 1:4712523-4712525

 skinmalignant_melanomaDeletion - In frame

c.400T>A; p.S134T; 1:4712270-4712270

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.869T>A; p.L290H; 1:4769892-4769892

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.409T>C; p.S137P; 1:4712279-4712279

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1193C>T; p.P398L; 1:4774456-4774456

 skinmalignant_melanomaSubstitution - Missense

c.1193C>T; p.P398L; 1:4774456-4774456

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.66A>C; p.G22G; 1:4711936-4711936

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.931G>A; p.G311R; 1:4772293-4772293

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.931G>A; p.G311R; 1:4772293-4772293

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.408C>T; p.S136S; 1:4712278-4712278

 skinmalignant_melanomaSubstitution - coding silent

c.1027A>T; p.S343C; 1:4772389-4772389

 stomachadenocarcinomaSubstitution - Missense

c.634C>T; p.R212W; 1:4712504-4712504

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.950G>A; p.S317N; 1:4772312-4772312

 skinmalignant_melanomaSubstitution - Missense

c.405G>A; p.S135S; 1:4712275-4712275

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.405G>A; p.S135S; 1:4712275-4712275

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1162C>T; p.R388*; 1:4772524-4772524

 thyroidcarcinomaSubstitution - Nonsense

c.104C>T; p.A35V; 1:4711974-4711974

 thyroidother; neoplasmSubstitution - Missense

c.536A>C; p.E179A; 1:4712406-4712406

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.536A>C; p.E179A; 1:4712406-4712406

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.43C>T; p.R15C; 1:4711913-4711913

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.652G>A; p.A218T; 1:4712522-4712522

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.43C>T; p.R15C; 1:4711913-4711913

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.11A>T; p.Q4L; 1:4655436-4655436

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.164G>C; p.R55P; 1:4712034-4712034

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.881T>C; p.I294T; 1:4769904-4769904

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.745delG; p.V250fs*45; 1:4712615-4712615

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.425C>T; p.A142V; 1:4712295-4712295

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1124C>T; p.S375L; 1:4772486-4772486

 breastcarcinomaSubstitution - Missense

c.1229C>G; p.S410C; 1:4774492-4774492

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.904G>A; p.V302I; 1:4769927-4769927

 pancreascarcinomaSubstitution - Missense

c.1065G>A; p.Q355Q; 1:4772427-4772427

 prostatecarcinomaSubstitution - coding silent

c.267C>T; p.I89I; 1:4712137-4712137

 skinmalignant_melanomaSubstitution - coding silent

c.63C>T; p.L21L; 1:4711933-4711933

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1107C>A; p.T369T; 1:4772469-4772469

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.739C>G; p.P247A; 1:4712609-4712609

 pancreascarcinomaSubstitution - Missense

c.739C>G; p.P247A; 1:4712609-4712609

 pancreascarcinomaSubstitution - Missense

c.739C>G; p.P247A; 1:4712609-4712609

 pancreascarcinomaSubstitution - Missense

c.133G>T; p.G45C; 1:4712003-4712003

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.652_653insCCA; p.T225_A226insT; 1:4712522-4712523

 large_intestine; rectumcarcinoma; adenocarcinomaInsertion - In frame

c.1016G>A; p.R339Q; 1:4772378-4772378

 thyroidcarcinomaSubstitution - Missense

c.220G>A; p.V74I; 1:4712090-4712090

 skinmalignant_melanomaSubstitution - Missense

c.621C>T; p.S207S; 1:4712491-4712491

 skinmalignant_melanomaSubstitution - coding silent

c.864C>T; p.V288V; 1:4769887-4769887

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.724C>T; p.P242S; 1:4712594-4712594

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.729G>A; p.R243R; 1:4712599-4712599

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.593C>T; p.P198L; 1:4712463-4712463

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.118G>A; p.A40T; 1:4711988-4711988

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.304C>T; p.H102Y; 1:4712174-4712174

 skinmalignant_melanomaSubstitution - Missense

c.1010C>G; p.S337W; 1:4772372-4772372

 breastcarcinomaSubstitution - Missense

c.749T>G; p.V250G; 1:4712619-4712619

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.749T>G; p.V250G; 1:4712619-4712619

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.410C>T; p.S137L; 1:4712280-4712280

 breastcarcinomaSubstitution - Missense

c.1080C>T; p.C360C; 1:4772442-4772442

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1071T>C; p.S357S; 1:4772433-4772433

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.502G>A; p.D168N; 1:4712372-4712372

 pancreascarcinomaSubstitution - Missense

c.909delA; p.N305fs*>107; 1:4769932-4769932

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.502G>A; p.D168N; 1:4712372-4712372

 pancreascarcinomaSubstitution - Missense

c.1203C>T; p.F401F; 1:4774466-4774466

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.958C>T; p.R320W; 1:4772320-4772320

 central_nervous_system; braingliomaSubstitution - Missense

c.909delA; p.N305fs*>107; 1:4769932-4769932

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1079G>A; p.C360Y; 1:4772441-4772441

 skinmalignant_melanomaSubstitution - Missense

c.790G>A; p.E264K; 1:4712660-4712660

 skinmalignant_melanomaSubstitution - Missense

c.1044G>A; p.T348T; 1:4772406-4772406

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.240C>A; p.S80R; 1:4712110-4712110

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1127C>T; p.T376M; 1:4772489-4772489

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.15G>A; p.Q5Q; 1:4655440-4655440

 biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - coding silent

c.438G>A; p.P146P; 1:4712308-4712308

 pancreascarcinomaSubstitution - coding silent

c.767C>T; p.S256F; 1:4712637-4712637

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.531G>A; p.E177E; 1:4712401-4712401

 skinmalignant_melanomaSubstitution - coding silent

c.1195G>C; p.V399L; 1:4774458-4774458

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.788G>A; p.G263E; 1:4712658-4712658

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1157G>A; p.G386E; 1:4772519-4772519

 skinmalignant_melanomaSubstitution - Missense

c.759G>A; p.T253T; 1:4712629-4712629

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.857T>C; p.I286T; 1:4769880-4769880

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.759G>A; p.T253T; 1:4712629-4712629

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.220G>T; p.V74F; 1:4712090-4712090

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.483G>T; p.G161G; 1:4712353-4712353

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1160A>C; p.N387T; 1:4772522-4772522

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1164-1G>T; p.?; 1:4774426-4774426

 lungcarcinoma; adenocarcinomaUnknown

c.1033G>T; p.D345Y; 1:4772395-4772395

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1068T>C; p.C356C; 1:4772430-4772430

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1192C>T; p.P398S; 1:4774455-4774455

 skinmalignant_melanomaSubstitution - Missense

c.435C>T; p.A145A; 1:4712305-4712305

 livercarcinomaSubstitution - coding silent

c.435C>T; p.A145A; 1:4712305-4712305

 livercarcinomaSubstitution - coding silent

c.912A>C; p.K304N; 1:4769935-4769935

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1091C>A; p.S364Y; 1:4772453-4772453

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.217C>T; p.R73W; 1:4712087-4712087

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.882A>T; p.I294I; 1:4769905-4769905

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.939T>A; p.T313T; 1:4772301-4772301

 livercarcinomaSubstitution - coding silent

c.939T>A; p.T313T; 1:4772301-4772301

 livercarcinomaSubstitution - coding silent

c.171G>A; p.P57P; 1:4712041-4712041

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.734G>A; p.R245K; 1:4712604-4712604

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.311C>T; p.P104L; 1:4712181-4712181

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.829+1G>A; p.?; 1:4712700-4712700

 lungcarcinoma; adenocarcinomaUnknown

c.179C>T; p.P60L; 1:4712049-4712049

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1115C>T; p.T372M; 1:4772477-4772477

 peritoneum; appendixother; pseudomyxoma_peritoneiSubstitution - Missense

c.123T>C; p.C41C; 1:4711993-4711993

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.123T>C; p.C41C; 1:4711993-4711993

 breastcarcinomaSubstitution - coding silent

c.123T>C; p.C41C; 1:4711993-4711993

 thyroidother; neoplasmSubstitution - coding silent

c.123T>C; p.C41C; 1:4711993-4711993

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1043C>A; p.T348K; 1:4772405-4772405

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1043C>A; p.T348K; 1:4772405-4772405

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.660C>T; p.T220T; 1:4712530-4712530

 livercarcinomaSubstitution - coding silent

c.65G>A; p.G22E; 1:4711935-4711935

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.660C>T; p.T220T; 1:4712530-4712530

 livercarcinomaSubstitution - coding silent

c.1075G>C; p.E359Q; 1:4772437-4772437

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.333C>T; p.L111L; 1:4712203-4712203

 skinmalignant_melanomaSubstitution - coding silent

c.450C>G; p.A150A; 1:4712320-4712320

 livercarcinomaSubstitution - coding silent

c.333C>T; p.L111L; 1:4712203-4712203

 pancreascarcinomaSubstitution - coding silent

c.976G>A; p.E326K; 1:4772338-4772338

 skinmalignant_melanomaSubstitution - Missense

c.254G>A; p.R85Q; 1:4712124-4712124

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.254G>A; p.R85Q; 1:4712124-4712124

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.419C>T; p.A140V; 1:4712289-4712289

 pancreascarcinomaSubstitution - Missense

c.944G>A; p.R315Q; 1:4772306-4772306

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.419C>T; p.A140V; 1:4712289-4712289

 livercarcinomaSubstitution - Missense

c.419C>T; p.A140V; 1:4712289-4712289

 livercarcinomaSubstitution - Missense

c.55C>G; p.R19G; 1:4711925-4711925

 breastcarcinomaSubstitution - Missense

c.216G>A; p.A72A; 1:4712086-4712086

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.360C>T; p.P120P; 1:4712230-4712230

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - coding silent

c.861C>T; p.T287T; 1:4769884-4769884

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.102C>T; p.L34L; 1:4711972-4711972

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.248C>T; p.P83L; 1:4712118-4712118

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1163+9G>C; p.?; 1:4772534-4772534

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.689C>T; p.T230M; 1:4712559-4712559

 prostateadenomaSubstitution - Missense

c.1099G>A; p.V367M; 1:4772461-4772461

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1099G>A; p.V367M; 1:4772461-4772461

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1182G>A; p.R394R; 1:4774445-4774445

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.60C>A; p.P20P; 1:4711930-4711930

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.361C>T; p.P121S; 1:4712231-4712231

 skinmalignant_melanomaSubstitution - Missense

c.1011G>A; p.S337S; 1:4772373-4772373

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.968A>G; p.N323S; 1:4772330-4772330

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1005C>T; p.F335F; 1:4772367-4772367

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.594G>A; p.P198P; 1:4712464-4712464

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1011G>A; p.S337S; 1:4772373-4772373

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1011G>A; p.S337S; 1:4772373-4772373

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.396T>G; p.S132S; 1:4712266-4712266

 skinmalignant_melanomaSubstitution - coding silent

c.1125G>A; p.S375S; 1:4772487-4772487

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.29+6C>A; p.?; 1:4655460-4655460

 biliary_tract; gallbladdercarcinoma; adenocarcinomaUnknown

c.65G>T; p.G22V; 1:4711935-4711935

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.205G>T; p.G69*; 1:4712075-4712075

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.569A>G; p.E190G; 1:4712439-4712439

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.615G>A; p.T205T; 1:4712485-4712485

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1229C>T; p.S410F; 1:4774492-4774492

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.543C>T; p.I181I; 1:4712413-4712413

 skinmalignant_melanomaSubstitution - coding silent

c.543C>T; p.I181I; 1:4712413-4712413

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.543C>T; p.I181I; 1:4712413-4712413

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1054G>A; p.E352K; 1:4772416-4772416

 skinmalignant_melanomaSubstitution - Missense

c.1135G>T; p.E379*; 1:4772497-4772497

 livercarcinomaSubstitution - Nonsense

c.1135G>T; p.E379*; 1:4772497-4772497

 livercarcinomaSubstitution - Nonsense

c.1098C>T; p.P366P; 1:4772460-4772460

 skinmalignant_melanomaSubstitution - coding silent

c.941G>A; p.R314H; 1:4772303-4772303

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.249G>A; p.P83P; 1:4712119-4712119

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.1044G>T; p.T348T; 1:4772406-4772406

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

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