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

Basic Information

Gene ID

64753

Name

CCDC136

Synonymous

coiled-coil domain containing 136;CCDC136;coiled-coil domain containing 136

Definition

coiled-coil domain-containing protein 136|nasopharyngeal carcinoma-associated gene 6 protein

Position

7q33

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 0.11.

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.1929C>T; p.H643H; 7:128810267-128810267

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.340C>A; p.L114I; 7:128794762-128794762

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.397G>T; p.E133*; 7:128801236-128801236

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.397G>T; p.E133*; 7:128801236-128801236

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.404A>T; p.E135V; 7:128801243-128801243

 ovaryother; neoplasmSubstitution - Missense

c.1685T>C; p.M562T; 7:128809529-128809529

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1430C>T; p.T477M; 7:128807370-128807370

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1272G>T; p.K424N; 7:128806711-128806711

 lung; middle_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1890G>A; p.Q630Q; 7:128810228-128810228

 skinmalignant_melanomaSubstitution - coding silent

c.3249G>A; p.E1083E; 7:128815817-128815817

 skinmalignant_melanomaSubstitution - coding silent

c.418G>T; p.E140*; 7:128801257-128801257

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.783-3C>A; p.?; 7:128805356-128805356

 adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningUnknown

c.60G>T; p.E20D; 7:128794391-128794391

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1060C>T; p.R354W; 7:128805872-128805872

 skinmalignant_melanomaSubstitution - Missense

c.1060C>T; p.R354W; 7:128805872-128805872

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.20A>G; p.E7G; 7:128794351-128794351

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2614G>A; p.E872K; 7:128812780-128812780

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.2131G>C; p.E711Q; 7:128811902-128811902

 breastcarcinomaSubstitution - Missense

c.2151G>A; p.Q717Q; 7:128811922-128811922

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1970T>C; p.V657A; 7:128810308-128810308

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1394C>A; p.A465D; 7:128806833-128806833

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1449G>A; p.E483E; 7:128807389-128807389

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.1345G>A; p.E449K; 7:128806784-128806784

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2780C>T; p.T927I; 7:128814654-128814654

 skinmalignant_melanomaSubstitution - Missense

c.2020C>A; p.R674R; 7:128810358-128810358

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.1575T>C; p.I525I; 7:128807515-128807515

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2961G>A; p.M987I; 7:128814835-128814835

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3112G>A; p.E1038K; 7:128815680-128815680

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2533G>C; p.D845H; 7:128812304-128812304

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.18G>A; p.G6G; 7:128794349-128794349

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1145A>T; p.Q382L; 7:128806292-128806292

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.273G>A; p.G91G; 7:128794695-128794695

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.184C>T; p.R62W; 7:128794515-128794515

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2399A>G; p.Y800C; 7:128812170-128812170

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2090C>G; p.A697G; 7:128811861-128811861

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1188G>C; p.Q396H; 7:128806335-128806335

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1555C>T; p.L519F; 7:128807495-128807495

 skinmalignant_melanomaSubstitution - Missense

c.1188G>C; p.Q396H; 7:128806335-128806335

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1188G>C; p.Q396H; 7:128806335-128806335

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1188G>C; p.Q396H; 7:128806335-128806335

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1188G>C; p.Q396H; 7:128806335-128806335

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1188G>C; p.Q396H; 7:128806335-128806335

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1188G>C; p.Q396H; 7:128806335-128806335

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1188G>C; p.Q396H; 7:128806335-128806335

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1188G>C; p.Q396H; 7:128806335-128806335

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1987_2007>GTGTAA; p.D663_S669>V*; 7:128810325-128810345

 ovarycarcinoma; serous_carcinomaComplex - deletion inframe

c.366_368delGGA; p.E124delE; 7:128801205-128801207

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.2345G>A; p.S782N; 7:128812116-128812116

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2562G>A; p.V854V; 7:128812728-128812728

 skinmalignant_melanomaSubstitution - coding silent

c.2191C>G; p.Q731E; 7:128811962-128811962

 breastcarcinomaSubstitution - Missense

c.646C>A; p.L216I; 7:128801485-128801485

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1807G>A; p.E603K; 7:128810145-128810145

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3323C>T; p.P1108L; 7:128815891-128815891

 skinmalignant_melanomaSubstitution - Missense

c.618G>T; p.K206N; 7:128801457-128801457

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2827C>G; p.Q943E; 7:128814701-128814701

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3305A>T; p.D1102V; 7:128815873-128815873

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3041G>C; p.R1014T; 7:128814915-128814915

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.361C>T; p.L121L; 7:128801200-128801200

 skinmalignant_melanomaSubstitution - coding silent

c.2708A>C; p.K903T; 7:128812874-128812874

 breastcarcinomaSubstitution - Missense

c.1687G>A; p.E563K; 7:128809531-128809531

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.288A>G; p.E96E; 7:128794710-128794710

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.3303C>G; p.A1101A; 7:128815871-128815871

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1356C>T; p.C452C; 7:128806795-128806795

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1988_2007>TGTAA; p.D663_S669>V*; 7:128810326-128810345

 ovarycarcinoma; serous_carcinomaComplex - deletion inframe

c.621C>T; p.S207S; 7:128801460-128801460

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2936G>A; p.R979Q; 7:128814810-128814810

 ovaryother; neoplasmSubstitution - Missense

c.3362A>T; p.K1121M; 7:128815930-128815930

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.991C>T; p.R331C; 7:128805803-128805803

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1019G>A; p.R340Q; 7:128805831-128805831

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2553A>T; p.E851D; 7:128812719-128812719

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2853G>T; p.E951D; 7:128814727-128814727

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1461G>T; p.L487L; 7:128807401-128807401

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.888G>A; p.M296I; 7:128805464-128805464

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1328A>T; p.Q443L; 7:128806767-128806767

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.3336C>T; p.N1112N; 7:128815904-128815904

 breastcarcinomaSubstitution - coding silent

c.709A>C; p.N237H; 7:128804688-128804688

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2207C>T; p.S736F; 7:128811978-128811978

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1259G>A; p.C420Y; 7:128806698-128806698

 breastcarcinomaSubstitution - Missense

c.963T>G; p.C321W; 7:128805775-128805775

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.963T>G; p.C321W; 7:128805775-128805775

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.963T>G; p.C321W; 7:128805775-128805775

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.741C>A; p.N247K; 7:128804720-128804720

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.3019T>A; p.S1007T; 7:128814893-128814893

 lung; left_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.856G>A; p.E286K; 7:128805432-128805432

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.478T>A; p.S160T; 7:128801317-128801317

 livercarcinomaSubstitution - Missense

c.1018C>T; p.R340W; 7:128805830-128805830

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1018C>T; p.R340W; 7:128805830-128805830

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2256C>T; p.V752V; 7:128812027-128812027

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.122G>A; p.G41D; 7:128794453-128794453

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.254A>G; p.D85G; 7:128794585-128794585

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2137C>T; p.R713W; 7:128811908-128811908

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2220C>T; p.S740S; 7:128811991-128811991

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1225C>A; p.L409I; 7:128806372-128806372

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2673G>A; p.L891L; 7:128812839-128812839

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1035C>G; p.L345L; 7:128805847-128805847

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1035C>G; p.L345L; 7:128805847-128805847

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - coding silent

c.996G>T; p.Q332H; 7:128805808-128805808

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2937G>A; p.R979R; 7:128814811-128814811

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1042G>T; p.A348S; 7:128805854-128805854

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1987G>T; p.D663Y; 7:128810325-128810325

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1042G>T; p.A348S; 7:128805854-128805854

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.888G>T; p.M296I; 7:128805464-128805464

 thyroidcarcinomaSubstitution - Missense

c.330G>A; p.Q110Q; 7:128794752-128794752

 breastcarcinomaSubstitution - coding silent

c.633C>T; p.S211S; 7:128801472-128801472

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2744_2745CC>TT; p.P915L; 7:128812910-128812911

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1586A>G; p.K529R; 7:128807526-128807526

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1262G>A; p.R421Q; 7:128806701-128806701

 breastcarcinomaSubstitution - Missense

c.2983A>G; p.K995E; 7:128814857-128814857

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.303C>T; p.A101A; 7:128794725-128794725

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1028G>A; p.R343K; 7:128805840-128805840

 skinmalignant_melanomaSubstitution - Missense

c.359C>T; p.S120F; 7:128801198-128801198

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1198C>T; p.R400W; 7:128806345-128806345

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.30C>T; p.L10L; 7:128794361-128794361

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1156A>G; p.N386D; 7:128806303-128806303

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.3324C>T; p.P1108P; 7:128815892-128815892

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1962C>T; p.F654F; 7:128810300-128810300

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.3G>A; p.M1I; 7:128792414-128792414

 central_nervous_system; braingliomaSubstitution - Missense

c.1454A>T; p.K485M; 7:128807394-128807394

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2893C>G; p.R965G; 7:128814767-128814767

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.807G>A; p.W269*; 7:128805383-128805383

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.2397C>T; p.A799A; 7:128812168-128812168

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2980G>T; p.V994F; 7:128814854-128814854

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2980G>T; p.V994F; 7:128814854-128814854

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.1419+1G>T; p.?; 7:128806859-128806859

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.3309T>C; p.S1103S; 7:128815877-128815877

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3309T>C; p.S1103S; 7:128815877-128815877

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2788C>T; p.R930W; 7:128814662-128814662

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.460C>T; p.R154W; 7:128801299-128801299

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.460C>T; p.R154W; 7:128801299-128801299

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2245G>A; p.G749S; 7:128812016-128812016

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.347-1G>A; p.?; 7:128801185-128801185

 livercarcinomaUnknown

c.2940G>A; p.G980G; 7:128814814-128814814

 bone; tibiaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1983C>T; p.P661P; 7:128810321-128810321

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2843T>C; p.V948A; 7:128814717-128814717

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.480C>T; p.S160S; 7:128801319-128801319

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1894C>A; p.Q632K; 7:128810232-128810232

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2276G>A; p.R759H; 7:128812047-128812047

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2276G>A; p.R759H; 7:128812047-128812047

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2528C>A; p.P843H; 7:128812299-128812299

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.834G>A; p.T278T; 7:128805410-128805410

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.834G>A; p.T278T; 7:128805410-128805410

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.3221_3222CC>TT; p.S1074F; 7:128815789-128815790

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2872C>G; p.Q958E; 7:128814746-128814746

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.357T>C; p.R119R; 7:128801196-128801196

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.3137delA; p.K1048fs*3; 7:128815705-128815705

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.3137delA; p.K1048fs*3; 7:128815705-128815705

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.3137delA; p.K1048fs*3; 7:128815705-128815705

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.1030G>A; p.E344K; 7:128805842-128805842

 skinmalignant_melanomaSubstitution - Missense

c.818A>G; p.Q273R; 7:128805394-128805394

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.60G>A; p.E20E; 7:128794391-128794391

 thyroidother; neoplasmSubstitution - coding silent

c.2245_2246GG>TT; p.G749F; 7:128812016-128812017

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1912G>T; p.E638*; 7:128810250-128810250

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.2139G>A; p.R713R; 7:128811910-128811910

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_relatedSubstitution - coding silent

c.766G>A; p.D256N; 7:128804745-128804745

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2728G>A; p.E910K; 7:128812894-128812894

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2752G>A; p.D918N; 7:128812918-128812918

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2752G>A; p.D918N; 7:128812918-128812918

 breastcarcinomaSubstitution - Missense

c.1489C>T; p.R497W; 7:128807429-128807429

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.743G>A; p.S248N; 7:128804722-128804722

 breastcarcinomaSubstitution - Missense

c.1343_1344AG>CA; p.E448A; 7:128806782-128806783

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.2514G>T; p.E838D; 7:128812285-128812285

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3278A>G; p.D1093G; 7:128815846-128815846

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

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