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

Basic Information

Gene ID

159989

Name

CCDC67

Synonymous

coiled-coil domain containing 67;CCDC67;coiled-coil domain containing 67

Definition

coiled-coil domain-containing protein 67|deuterosome protein 1

Position

11q21

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 0.23.

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.1720G>C; p.E574Q; 11:93437624-93437624

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1720G>C; p.E574Q; 11:93437624-93437624

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.1220A>C; p.K407T; 11:93394637-93394637

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.753C>T; p.L251L; 11:93371244-93371244

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.497C>A; p.S166Y; 11:93370137-93370137

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.497C>A; p.S166Y; 11:93370137-93370137

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1582T>C; p.F528L; 11:93415058-93415058

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.750G>A; p.K250K; 11:93371241-93371241

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.398C>A; p.P133H; 11:93364260-93364260

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.397C>A; p.P133T; 11:93364259-93364259

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1691T>A; p.L564Q; 11:93437595-93437595

 skinmalignant_melanomaSubstitution - Missense

c.24G>A; p.T8T; 11:93332283-93332283

 soft_tissue; blood_vesselangiosarcomaSubstitution - coding silent

c.142G>A; p.D48N; 11:93355483-93355483

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.807C>G; p.L269L; 11:93385415-93385415

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.360T>A; p.V120V; 11:93364222-93364222

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.196C>T; p.Q66*; 11:93355537-93355537

 skinmalignant_melanomaSubstitution - Nonsense

c.1306T>G; p.L436V; 11:93396305-93396305

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.682G>A; p.E228K; 11:93371173-93371173

 skinmalignant_melanomaSubstitution - Missense

c.1200G>A; p.M400I; 11:93394617-93394617

 skinmalignant_melanomaSubstitution - Missense

c.675C>T; p.F225F; 11:93371166-93371166

 skinmalignant_melanomaSubstitution - coding silent

c.447G>A; p.K149K; 11:93370087-93370087

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.1110C>A; p.I370I; 11:93394527-93394527

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.868C>T; p.R290*; 11:93385476-93385476

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.651_654delTGAA; p.C217fs*1; 11:93371142-93371145

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.365G>A; p.R122Q; 11:93364227-93364227

 skinmalignant_melanomaSubstitution - Missense

c.685A>C; p.K229Q; 11:93371176-93371176

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.45G>T; p.E15D; 11:93355386-93355386

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.349C>T; p.Q117*; 11:93364211-93364211

 breastcarcinomaSubstitution - Nonsense

c.727A>C; p.K243Q; 11:93371218-93371218

 breastcarcinomaSubstitution - Missense

c.150G>A; p.R50R; 11:93355491-93355491

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.281A>G; p.Q94R; 11:93357027-93357027

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.456A>G; p.E152E; 11:93370096-93370096

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1510C>A; p.Q504K; 11:93408414-93408414

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.423G>C; p.Q141H; 11:93364285-93364285

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.433G>A; p.E145K; 11:93370073-93370073

 skinmalignant_melanomaSubstitution - Missense

c.214C>T; p.R72*; 11:93356960-93356960

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.214C>T; p.R72*; 11:93356960-93356960

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.214C>T; p.R72*; 11:93356960-93356960

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.214C>T; p.R72*; 11:93356960-93356960

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.591G>A; p.Q197Q; 11:93371082-93371082

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1002G>A; p.V334V; 11:93389086-93389086

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.136C>T; p.R46*; 11:93355477-93355477

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1141G>A; p.E381K; 11:93394558-93394558

 skinmalignant_melanomaSubstitution - Missense

c.136C>T; p.R46*; 11:93355477-93355477

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1318G>C; p.E440Q; 11:93396317-93396317

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1729C>A; p.L577I; 11:93437633-93437633

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.215G>A; p.R72Q; 11:93356961-93356961

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1508_1509insA; p.Q504fs*3; 11:93408412-93408413

 stomachcarcinoma; intestinal_adenocarcinomaInsertion - Frameshift

c.137G>A; p.R46Q; 11:93355478-93355478

 skinmalignant_melanomaSubstitution - Missense

c.137G>A; p.R46Q; 11:93355478-93355478

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1195A>C; p.K399Q; 11:93394612-93394612

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.492G>C; p.L164L; 11:93370132-93370132

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.376C>T; p.P126S; 11:93364238-93364238

 skinmalignant_melanomaSubstitution - Missense

c.481C>T; p.Q161*; 11:93370121-93370121

 skinmalignant_melanomaSubstitution - Nonsense

c.1291G>A; p.G431R; 11:93396290-93396290

 skin; extremitymalignant_melanomaSubstitution - Missense

c.433-1_433insC; p.E145fs*3; 11:93370072-93370073

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.121C>T; p.R41W; 11:93355462-93355462

 biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - Missense

c.364C>A; p.R122R; 11:93364226-93364226

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.849G>C; p.L283F; 11:93385457-93385457

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1594G>C; p.E532Q; 11:93415070-93415070

 breastcarcinomaSubstitution - Missense

c.1094G>A; p.R365K; 11:93394511-93394511

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.65T>C; p.M22T; 11:93355406-93355406

 ovaryother; neoplasmSubstitution - Missense

c.1354T>G; p.S452A; 11:93408258-93408258

 ovaryother; neoplasmSubstitution - Missense

c.1692G>A; p.L564L; 11:93437596-93437596

 skinmalignant_melanomaSubstitution - coding silent

c.1564C>T; p.P522S; 11:93415040-93415040

 skinmalignant_melanomaSubstitution - Missense

c.229A>G; p.S77G; 11:93356975-93356975

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1771A>G; p.T591A; 11:93437675-93437675

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1492A>C; p.S498R; 11:93408396-93408396

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.506C>T; p.A169V; 11:93370146-93370146

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1282C>T; p.H428Y; 11:93396281-93396281

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.118A>T; p.M40L; 11:93355459-93355459

 skinmalignant_melanomaSubstitution - Missense

c.1686C>T; p.F562F; 11:93437590-93437590

 skinmalignant_melanomaSubstitution - coding silent

c.771G>T; p.M257I; 11:93371262-93371262

 pleurapulmonary_blastomaSubstitution - Missense

c.1277A>G; p.N426S; 11:93396276-93396276

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.271G>T; p.G91*; 11:93357017-93357017

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1251G>A; p.M417I; 11:93396250-93396250

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1101G>A; p.R367R; 11:93394518-93394518

 skinmalignant_melanomaSubstitution - coding silent

c.1105G>A; p.E369K; 11:93394522-93394522

 skinmalignant_melanomaSubstitution - Missense

c.623G>A; p.R208H; 11:93371114-93371114

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.122G>A; p.R41Q; 11:93355463-93355463

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1358G>A; p.R453K; 11:93408262-93408262

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1607C>A; p.P536H; 11:93415083-93415083

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1743T>A; p.I581I; 11:93437647-93437647

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.582_583insA; p.Q197fs*9; 11:93371073-93371074

 large_intestine; rectumcarcinoma; adenocarcinomaInsertion - Frameshift

c.620C>T; p.P207L; 11:93371111-93371111

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1546A>T; p.N516Y; 11:93415022-93415022

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.443C>T; p.A148V; 11:93370083-93370083

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1506G>A; p.V502V; 11:93408410-93408410

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1068A>G; p.E356E; 11:93394485-93394485

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.299T>C; p.F100S; 11:93364161-93364161

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.1507G>A; p.E503K; 11:93408411-93408411

 ovaryother; neoplasmSubstitution - Missense

c.1137G>C; p.Q379H; 11:93394554-93394554

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.921A>C; p.Q307H; 11:93385529-93385529

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.198A>T; p.Q66H; 11:93355539-93355539

 skinmalignant_melanomaSubstitution - Missense

c.199G>C; p.E67Q; 11:93355540-93355540

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.73A>G; p.I25V; 11:93355414-93355414

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.383T>A; p.L128H; 11:93364245-93364245

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1787C>A; p.S596Y; 11:93437691-93437691

 thyroidcarcinoma; medullary_carcinomaSubstitution - Missense

c.1621G>A; p.D541N; 11:93415097-93415097

 skinmalignant_melanomaSubstitution - Missense

c.988G>T; p.E330*; 11:93389072-93389072

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1572A>C; p.P524P; 11:93415048-93415048

 breastcarcinomaSubstitution - coding silent

c.1594G>T; p.E532*; 11:93415070-93415070

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1184delA; p.K396fs*3; 11:93394601-93394601

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.978G>A; p.R326R; 11:93389062-93389062

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.978G>A; p.R326R; 11:93389062-93389062

 skinmalignant_melanomaSubstitution - coding silent

c.1749A>G; p.E583E; 11:93437653-93437653

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.108G>A; p.W36*; 11:93355449-93355449

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1510delC; p.Q504fs*30; 11:93408414-93408414

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.390A>C; p.E130D; 11:93364252-93364252

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1516G>A; p.E506K; 11:93408420-93408420

 skin; trunkmalignant_melanomaSubstitution - Missense

c.229A>T; p.S77C; 11:93356975-93356975

 livercarcinomaSubstitution - Missense

c.229A>T; p.S77C; 11:93356975-93356975

 livercarcinomaSubstitution - Missense

c.1709_1710insA; p.E572fs*3; 11:93437613-93437614

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.1709_1710insA; p.E572fs*3; 11:93437613-93437614

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.1709_1710insA; p.E572fs*3; 11:93437613-93437614

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.1601C>A; p.T534K; 11:93415077-93415077

 livercarcinomaSubstitution - Missense

c.884G>A; p.R295K; 11:93385492-93385492

 skinmalignant_melanomaSubstitution - Missense

c.1601C>A; p.T534K; 11:93415077-93415077

 livercarcinomaSubstitution - Missense

c.1797A>C; p.K599N; 11:93437701-93437701

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1338C>T; p.F446F; 11:93408242-93408242

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.423G>T; p.Q141H; 11:93364285-93364285

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.157G>T; p.E53*; 11:93355498-93355498

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.51G>C; p.E17D; 11:93355392-93355392

 thyroidcarcinomaSubstitution - Missense

c.585A>T; p.K195N; 11:93371076-93371076

 skinmalignant_melanomaSubstitution - Missense

c.909C>A; p.C303*; 11:93385517-93385517

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1578G>A; p.S526S; 11:93415054-93415054

 skinmalignant_melanomaSubstitution - coding silent

c.1578G>A; p.S526S; 11:93415054-93415054

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1090G>A; p.E364K; 11:93394507-93394507

 skinmalignant_melanomaSubstitution - Missense

c.1531C>T; p.H511Y; 11:93415007-93415007

 skinmalignant_melanomaSubstitution - Missense

c.311C>G; p.T104R; 11:93364173-93364173

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1172C>A; p.A391D; 11:93394589-93394589

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.433-2_433-1insC; p.?; 11:93370071-93370072

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.902G>C; p.G301A; 11:93385510-93385510

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1116delC; p.L373fs*1; 11:93394533-93394533

 ovarycarcinoma; serous_carcinomaDeletion - Frameshift

c.1432G>A; p.G478R; 11:93408336-93408336

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1504G>T; p.V502L; 11:93408408-93408408

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1432G>A; p.G478R; 11:93408336-93408336

 skinmalignant_melanomaSubstitution - Missense

c.511C>T; p.Q171*; 11:93370151-93370151

 thyroidcarcinomaSubstitution - Nonsense

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