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

Basic Information

Gene ID

54756

Name

IL17RD

Synonymous

interleukin 17 receptor D;IL17RD;interleukin 17 receptor D

Definition

IL-17 receptor D|IL17Rhom|hSef|interleukin-17 receptor D|interleukin-17 receptor-like protein|sef homolog

Position

3p14.3

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 0.12.

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.501G>A; p.S167S; 3:57102525-57102525

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.976G>A; p.A326T; 3:57098295-57098295

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1041C>T; p.I347I; 3:57098230-57098230

 skinmalignant_melanomaSubstitution - coding silent

c.569A>G; p.D190G; 3:57101342-57101342

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1696C>T; p.L566F; 3:57096485-57096485

 skinmalignant_melanomaSubstitution - Missense

c.975C>T; p.S325S; 3:57098296-57098296

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1094C>T; p.S365F; 3:57098177-57098177

 skinmalignant_melanomaSubstitution - Missense

c.1201G>A; p.A401T; 3:57098070-57098070

 large_intestine; colonadenomaSubstitution - Missense

c.1181C>T; p.S394L; 3:57098090-57098090

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1777G>A; p.A593T; 3:57096404-57096404

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1216C>T; p.H406Y; 3:57098055-57098055

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1597C>T; p.P533S; 3:57097674-57097674

 livercarcinomaSubstitution - Missense

c.48C>T; p.F16F; 3:57109607-57109607

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.48C>T; p.F16F; 3:57109607-57109607

 skinmalignant_melanomaSubstitution - coding silent

c.1489G>A; p.A497T; 3:57097782-57097782

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1640C>T; p.S547F; 3:57097631-57097631

 skinmalignant_melanomaSubstitution - Missense

c.782G>T; p.R261I; 3:57098489-57098489

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1770C>T; p.H590H; 3:57096411-57096411

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1035C>T; p.P345P; 3:57098236-57098236

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1290C>T; p.Y430Y; 3:57097981-57097981

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1260C>T; p.F420F; 3:57098011-57098011

 skinmalignant_melanomaSubstitution - coding silent

c.950T>C; p.L317P; 3:57098321-57098321

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1260C>T; p.F420F; 3:57098011-57098011

 skinmalignant_melanomaSubstitution - coding silent

c.1260C>T; p.F420F; 3:57098011-57098011

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.359C>A; p.S120Y; 3:57104364-57104364

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1155C>T; p.S385S; 3:57098116-57098116

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1000G>A; p.V334I; 3:57098271-57098271

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1000G>A; p.V334I; 3:57098271-57098271

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1000G>A; p.V334I; 3:57098271-57098271

 breastcarcinomaSubstitution - Missense

c.506_507ins60; p.A168_F169insLDIA*; 3:57102519-57102520

 adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningInsertion - In frame

c.1184G>A; p.G395D; 3:57098087-57098087

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.39G>A; p.T13T; 3:57109616-57109616

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.39G>A; p.T13T; 3:57109616-57109616

 skinmalignant_melanomaSubstitution - coding silent

c.1476C>T; p.A492A; 3:57097795-57097795

 skinmalignant_melanomaSubstitution - coding silent

c.926C>T; p.A309V; 3:57098345-57098345

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.926C>T; p.A309V; 3:57098345-57098345

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.159delA; p.K53fs*9; 3:57106114-57106114

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1319C>T; p.S440L; 3:57097952-57097952

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.130T>G; p.L44V; 3:57106143-57106143

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.298C>T; p.R100*; 3:57105874-57105874

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1248C>T; p.F416F; 3:57098023-57098023

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1360G>C; p.E454Q; 3:57097911-57097911

 breastcarcinomaSubstitution - Missense

c.503_504delCA; p.A168fs*23; 3:57102522-57102523

 salivary_gland; parotidcarcinoma; adenoid_cystic_carcinomaDeletion - Frameshift

c.3G>A; p.M1I; 3:57109652-57109652

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.718T>G; p.F240V; 3:57101193-57101193

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1580C>G; p.S527*; 3:57097691-57097691

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_relatedSubstitution - Nonsense

c.1580C>G; p.S527*; 3:57097691-57097691

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Nonsense

c.1546C>T; p.R516W; 3:57097725-57097725

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1546C>T; p.R516W; 3:57097725-57097725

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1546C>T; p.R516W; 3:57097725-57097725

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1546C>T; p.R516W; 3:57097725-57097725

 pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.67C>T; p.P23S; 3:57109588-57109588

 skinmalignant_melanomaSubstitution - Missense

c.67C>T; p.P23S; 3:57109588-57109588

 skinmalignant_melanomaSubstitution - Missense

c.67C>T; p.P23S; 3:57109588-57109588

 skinmalignant_melanomaSubstitution - Missense

c.67C>T; p.P23S; 3:57109588-57109588

 skinmalignant_melanomaSubstitution - Missense

c.341_342delGC; p.C114fs*13; 3:57104381-57104382

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1620G>A; p.T540T; 3:57097651-57097651

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.407G>T; p.R136I; 3:57103120-57103120

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.720C>G; p.F240L; 3:57101191-57101191

 breastcarcinomaSubstitution - Missense

c.1279C>T; p.P427S; 3:57097992-57097992

 skinmalignant_melanomaSubstitution - Missense

c.598A>T; p.T200S; 3:57101313-57101313

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1240G>A; p.D414N; 3:57098031-57098031

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1029C>T; p.D343D; 3:57098242-57098242

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1020C>A; p.C340*; 3:57098251-57098251

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.981G>A; p.A327A; 3:57098290-57098290

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.981G>A; p.A327A; 3:57098290-57098290

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1417G>T; p.D473Y; 3:57097854-57097854

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.294C>A; p.F98L; 3:57105878-57105878

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.688G>A; p.V230I; 3:57101223-57101223

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1779_1780CC>TT; p.P594S; 3:57096401-57096402

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.249C>T; p.F83F; 3:57105923-57105923

 skinmalignant_melanomaSubstitution - coding silent

c.508G>A; p.A170T; 3:57102518-57102518

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1329T>G; p.V443V; 3:57097942-57097942

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.915C>T; p.L305L; 3:57098356-57098356

 breastcarcinomaSubstitution - coding silent

c.849G>T; p.K283N; 3:57098422-57098422

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.346C>T; p.L116F; 3:57104377-57104377

 skinmalignant_melanomaSubstitution - Missense

c.469G>A; p.V157M; 3:57102557-57102557

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.500C>T; p.S167L; 3:57102526-57102526

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1647G>T; p.T549T; 3:57097624-57097624

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.657C>T; p.S219S; 3:57101254-57101254

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.513G>A; p.T171T; 3:57102513-57102513

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.204G>A; p.S68S; 3:57105968-57105968

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1763A>G; p.E588G; 3:57096418-57096418

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.914T>G; p.L305R; 3:57098357-57098357

 livercarcinomaSubstitution - Missense

c.720C>A; p.F240L; 3:57101191-57101191

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.421T>C; p.Y141H; 3:57103106-57103106

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1283T>C; p.L428P; 3:57097988-57097988

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.625delC; p.R209fs*19; 3:57101286-57101286

 ovarycarcinoma; serous_carcinomaDeletion - Frameshift

c.1491C>T; p.A497A; 3:57097780-57097780

 breastcarcinomaSubstitution - coding silent

c.1695C>T; p.A565A; 3:57096486-57096486

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1499A>G; p.Q500R; 3:57097772-57097772

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.857T>C; p.V286A; 3:57098414-57098414

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1164C>A; p.N388K; 3:57098107-57098107

 skinmalignant_melanomaSubstitution - Missense

c.1291C>T; p.R431W; 3:57097980-57097980

 pancreasother; cystic_tumourSubstitution - Missense

c.243C>T; p.F81F; 3:57105929-57105929

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.243C>T; p.F81F; 3:57105929-57105929

 endometriumcarcinoma; serous_carcinomaSubstitution - coding silent

c.222C>T; p.F74F; 3:57105950-57105950

 breastcarcinomaSubstitution - coding silent

c.892C>T; p.R298*; 3:57098379-57098379

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.610C>T; p.P204S; 3:57101301-57101301

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1604T>C; p.M535T; 3:57097667-57097667

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.426C>T; p.A142A; 3:57103101-57103101

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1732G>T; p.A578S; 3:57096449-57096449

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1286G>A; p.R429H; 3:57097985-57097985

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.381+2T>C; p.?; 3:57104340-57104340

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.1524C>T; p.A508A; 3:57097747-57097747

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.140C>T; p.P47L; 3:57106133-57106133

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.140C>T; p.P47L; 3:57106133-57106133

 haematopoietic_and_lymphoid_tissue; central_nervous_systemlymphoid_neoplasm; primary_central_nervous_system_lymphomaSubstitution - Missense

c.140C>T; p.P47L; 3:57106133-57106133

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1290C>A; p.Y430*; 3:57097981-57097981

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1609G>A; p.G537R; 3:57097662-57097662

 skinmalignant_melanomaSubstitution - Missense

c.446C>A; p.P149Q; 3:57102580-57102580

 breastcarcinomaSubstitution - Missense

c.760A>G; p.S254G; 3:57098511-57098511

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

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