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

Basic Information

Gene ID

645811

Name

CCDC154

Synonymous

coiled-coil domain containing 154;CCDC154;coiled-coil domain containing 154

Definition

coiled-coil domain-containing protein 154

Position

16p13.3

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

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Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.08.

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.415-4G>T; p.?; 16:1443305-1443305

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaUnknown

c.1491G>A; p.R497R; 16:1436468-1436468

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.43C>T; p.P15S; 16:1443977-1443977

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1961T>C; p.L654P; 16:1434472-1434472

 thyroidother; neoplasmSubstitution - Missense

c.396C>T; p.P132P; 16:1443524-1443524

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1279G>A; p.D427N; 16:1437855-1437855

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.377G>A; p.R126Q; 16:1443543-1443543

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1498G>A; p.A500T; 16:1436461-1436461

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; plasma_cell_myelomaSubstitution - Missense

c.1498G>A; p.A500T; 16:1436461-1436461

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1498G>A; p.A500T; 16:1436461-1436461

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1178T>G; p.L393R; 16:1438051-1438051

 breastcarcinomaSubstitution - Missense

c.906G>T; p.E302D; 16:1438815-1438815

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.648G>A; p.R216R; 16:1442433-1442433

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1442_1445delAGAG; p.E481fs*45; 16:1436514-1436517

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.290C>T; p.T97M; 16:1443630-1443630

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1442_1445delAGAG; p.E481fs*45; 16:1436514-1436517

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.728A>G; p.E243G; 16:1439074-1439074

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.777+5G>C; p.?; 16:1439020-1439020

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.1337G>A; p.G446D; 16:1436792-1436792

 breastcarcinomaSubstitution - Missense

c.1089G>A; p.G363G; 16:1438140-1438140

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1089G>A; p.G363G; 16:1438140-1438140

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1342G>C; p.E448Q; 16:1436787-1436787

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1183C>T; p.R395*; 16:1437951-1437951

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1339G>A; p.A447T; 16:1436790-1436790

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.112G>A; p.E38K; 16:1443908-1443908

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.112G>A; p.E38K; 16:1443908-1443908

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.1159A>G; p.M387V; 16:1438070-1438070

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.417C>A; p.F139L; 16:1443299-1443299

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.446T>C; p.L149P; 16:1443270-1443270

 livercarcinomaSubstitution - Missense

c.446T>C; p.L149P; 16:1443270-1443270

 livercarcinomaSubstitution - Missense

c.446T>C; p.L149P; 16:1443270-1443270

 livercarcinomaSubstitution - Missense

c.1100C>T; p.A367V; 16:1438129-1438129

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1197G>T; p.R399R; 16:1437937-1437937

 kidneyother; neoplasmSubstitution - coding silent

c.61G>A; p.V21I; 16:1443959-1443959

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.61G>A; p.V21I; 16:1443959-1443959

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.61G>A; p.V21I; 16:1443959-1443959

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1534C>A; p.L512M; 16:1436067-1436067

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1150C>T; p.R384W; 16:1438079-1438079

 pancreascarcinomaSubstitution - Missense

c.522A>G; p.R174R; 16:1442909-1442909

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1489A>G; p.R497G; 16:1436470-1436470

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1171C>T; p.L391L; 16:1438058-1438058

 pancreascarcinomaSubstitution - coding silent

c.1718C>T; p.T573M; 16:1434848-1434848

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1718C>T; p.T573M; 16:1434848-1434848

 ovaryother; neoplasmSubstitution - Missense

c.1049C>T; p.A350V; 16:1438622-1438622

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.792G>A; p.S264S; 16:1438929-1438929

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1052G>A; p.W351*; 16:1438619-1438619

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1573C>T; p.L525L; 16:1436028-1436028

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.945C>T; p.L315L; 16:1438726-1438726

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.396_397insC; p.E133fs*170; 16:1443523-1443524

 lungcarcinoma; adenocarcinomaInsertion - Frameshift

c.1356G>A; p.L452L; 16:1436773-1436773

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1356G>A; p.L452L; 16:1436773-1436773

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1660G>A; p.V554I; 16:1435142-1435142

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1898+6C>T; p.?; 16:1434662-1434662

 ovaryother; neoplasmUnknown

c.551G>A; p.R184K; 16:1442880-1442880

 livercarcinomaSubstitution - Missense

c.551G>A; p.R184K; 16:1442880-1442880

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.551G>A; p.R184K; 16:1442880-1442880

 livercarcinomaSubstitution - Missense

c.1605C>T; p.I535I; 16:1435996-1435996

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.652G>T; p.D218Y; 16:1442429-1442429

 breastcarcinomaSubstitution - Missense

c.42C>T; p.A14A; 16:1443978-1443978

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1680C>T; p.I560I; 16:1435122-1435122

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.962G>A; p.G321D; 16:1438709-1438709

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1058C>T; p.A353V; 16:1438171-1438171

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.347C>T; p.S116L; 16:1443573-1443573

 NSmalignant_melanomaSubstitution - Missense

c.408G>A; p.A136A; 16:1443512-1443512

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.47C>T; p.S16F; 16:1443973-1443973

 breastcarcinomaSubstitution - Missense

c.1057G>A; p.A353T; 16:1438172-1438172

 pancreascarcinomaSubstitution - Missense

c.1213G>A; p.V405M; 16:1437921-1437921

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.415-1G>A; p.?; 16:1443302-1443302

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.285C>T; p.R95R; 16:1443635-1443635

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.285C>T; p.R95R; 16:1443635-1443635

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1776G>A; p.P592P; 16:1434790-1434790

 breastcarcinomaSubstitution - coding silent

c.1906C>T; p.R636C; 16:1434527-1434527

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1906C>T; p.R636C; 16:1434527-1434527

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1906C>T; p.R636C; 16:1434527-1434527

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1906C>T; p.R636C; 16:1434527-1434527

 thyroidother; neoplasmSubstitution - Missense

c.827G>A; p.R276Q; 16:1438894-1438894

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.669A>G; p.R223R; 16:1442412-1442412

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1026T>C; p.R342R; 16:1438645-1438645

 thyroidother; neoplasmSubstitution - coding silent

c.1026T>C; p.R342R; 16:1438645-1438645

 thyroidother; neoplasmSubstitution - coding silent

c.1039G>A; p.E347K; 16:1438632-1438632

 breastcarcinomaSubstitution - Missense

c.1881C>T; p.G627G; 16:1434685-1434685

 large_intestine; rectumNSSubstitution - coding silent

c.1584A>T; p.E528D; 16:1436017-1436017

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

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