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

Basic Information

Gene ID

51473

Name

DCDC2

Synonymous

doublecortin domain containing 2;DCDC2;doublecortin domain containing 2

Definition

doublecortin domain-containing protein 2

Position

6p22.1

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 0.15.

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.1384G>A; p.E462K; 6:24174777-24174777

 skinmalignant_melanomaSubstitution - Missense

c.379G>A; p.V127M; 6:24302014-24302014

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1288G>A; p.E430K; 6:24178368-24178368

 skinmalignant_melanomaSubstitution - Missense

c.537G>T; p.L179L; 6:24301735-24301735

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.819C>G; p.P273P; 6:24278152-24278152

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.346G>C; p.E116Q; 6:24353571-24353571

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.922+1G>A; p.?; 6:24278048-24278048

 skin; trunkmalignant_melanomaUnknown

c.132C>T; p.F44F; 6:24357619-24357619

 breastcarcinoma; HER-positive_carcinomaSubstitution - coding silent

c.1198C>T; p.R400C; 6:24178458-24178458

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1198C>T; p.R400C; 6:24178458-24178458

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1198C>T; p.R400C; 6:24178458-24178458

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1164C>T; p.V388V; 6:24178492-24178492

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.841G>T; p.E281*; 6:24278130-24278130

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.869A>C; p.K290T; 6:24278102-24278102

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1114G>T; p.D372Y; 6:24178542-24178542

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.668T>C; p.L223S; 6:24290968-24290968

 livercarcinomaSubstitution - Missense

c.272A>G; p.Q91R; 6:24357479-24357479

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1045G>T; p.E349*; 6:24178611-24178611

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.218G>A; p.R73Q; 6:24357533-24357533

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.112G>A; p.E38K; 6:24357639-24357639

 thyroidcarcinomaSubstitution - Missense

c.318G>T; p.K106N; 6:24353599-24353599

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.259G>A; p.V87M; 6:24357492-24357492

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1200C>T; p.R400R; 6:24178456-24178456

 skinmalignant_melanomaSubstitution - coding silent

c.454C>G; p.P152A; 6:24301818-24301818

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1057G>T; p.G353*; 6:24178599-24178599

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.204G>C; p.P68P; 6:24357547-24357547

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.575G>A; p.G192E; 6:24291061-24291061

 skin; neckmalignant_melanomaSubstitution - Missense

c.575G>A; p.G192E; 6:24291061-24291061

 skinmalignant_melanomaSubstitution - Missense

c.1420G>A; p.A474T; 6:24174741-24174741

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.394A>G; p.R132G; 6:24301999-24301999

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.442G>T; p.D148Y; 6:24301830-24301830

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.442G>T; p.D148Y; 6:24301830-24301830

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1117C>G; p.L373V; 6:24178539-24178539

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1117C>G; p.L373V; 6:24178539-24178539

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.204G>A; p.P68P; 6:24357547-24357547

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1130G>A; p.G377E; 6:24178526-24178526

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.499G>A; p.D167N; 6:24301773-24301773

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.661A>G; p.S221G; 6:24290975-24290975

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.108C>T; p.I36I; 6:24357643-24357643

 skinmalignant_melanomaSubstitution - coding silent

c.1113T>C; p.G371G; 6:24178543-24178543

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.776C>G; p.S259C; 6:24278195-24278195

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.994G>T; p.D332Y; 6:24205031-24205031

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1355G>T; p.R452M; 6:24174806-24174806

 adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningSubstitution - Missense

c.769C>T; p.R257C; 6:24278202-24278202

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1170G>A; p.E390E; 6:24178486-24178486

 skinmalignant_melanomaSubstitution - coding silent

c.250G>T; p.G84C; 6:24357501-24357501

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1170G>A; p.E390E; 6:24178486-24178486

 skinmalignant_melanomaSubstitution - coding silent

c.666G>C; p.E222D; 6:24290970-24290970

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.1264G>T; p.E422*; 6:24178392-24178392

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.176T>G; p.F59C; 6:24357575-24357575

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.240C>G; p.I80M; 6:24357511-24357511

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.641A>C; p.K214T; 6:24290995-24290995

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.662G>A; p.S221N; 6:24290974-24290974

 skinmalignant_melanomaSubstitution - Missense

c.725C>T; p.P242L; 6:24288886-24288886

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.748T>C; p.S250P; 6:24288863-24288863

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.204G>T; p.P68P; 6:24357547-24357547

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1023+5T>C; p.?; 6:24204997-24204997

 stomachcarcinoma; diffuse_adenocarcinomaUnknown

c.1422C>A; p.A474A; 6:24174739-24174739

 breastcarcinomaSubstitution - coding silent

c.641A>T; p.K214M; 6:24290995-24290995

 oesophaguscarcinomaSubstitution - Missense

c.909C>T; p.T303T; 6:24278062-24278062

 skinmalignant_melanomaSubstitution - coding silent

c.1425G>T; p.V475V; 6:24174736-24174736

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.898T>C; p.S300P; 6:24278073-24278073

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1324G>A; p.E442K; 6:24178332-24178332

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.188G>A; p.R63K; 6:24357563-24357563

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1324G>T; p.E442*; 6:24178332-24178332

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.498G>T; p.W166C; 6:24301774-24301774

 livercarcinomaSubstitution - Missense

c.498G>T; p.W166C; 6:24301774-24301774

 livercarcinomaSubstitution - Missense

c.1339C>T; p.P447S; 6:24174822-24174822

 pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.1342C>T; p.Q448*; 6:24174819-24174819

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.476C>T; p.P159L; 6:24301796-24301796

 skinmalignant_melanomaSubstitution - Missense

c.364C>T; p.H122Y; 6:24302029-24302029

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.294-3C>G; p.?; 6:24353626-24353626

 livercarcinomaUnknown

c.294-3C>G; p.?; 6:24353626-24353626

 livercarcinomaUnknown

c.468C>T; p.L156L; 6:24301804-24301804

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.103G>A; p.V35I; 6:24357648-24357648

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1328C>A; p.A443D; 6:24174833-24174833

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.970delG; p.A324fs*23; 6:24205055-24205055

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.348+3A>G; p.?; 6:24353566-24353566

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.544G>A; p.G182R; 6:24301728-24301728

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1313G>C; p.S438T; 6:24178343-24178343

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.544G>A; p.G182R; 6:24301728-24301728

 skinmalignant_melanomaSubstitution - Missense

c.1248G>A; p.L416L; 6:24178408-24178408

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.648G>T; p.K216N; 6:24290988-24290988

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.860A>C; p.K287T; 6:24278111-24278111

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1346G>A; p.R449K; 6:24174815-24174815

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1199G>A; p.R400H; 6:24178457-24178457

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1161A>C; p.Q387H; 6:24178495-24178495

 stomachcarcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiableSubstitution - Missense

c.1161A>C; p.Q387H; 6:24178495-24178495

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1116C>A; p.D372E; 6:24178540-24178540

 livercarcinomaSubstitution - Missense

c.1284C>A; p.D428E; 6:24178372-24178372

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.241C>T; p.Q81*; 6:24357510-24357510

 skinmalignant_melanomaSubstitution - Nonsense

c.794C>T; p.S265F; 6:24278177-24278177

 skinmalignant_melanomaSubstitution - Missense

c.241C>T; p.Q81*; 6:24357510-24357510

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.806C>T; p.S269L; 6:24278165-24278165

 skinmalignant_melanomaSubstitution - Missense

c.8G>A; p.G3D; 6:24357743-24357743

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.518T>C; p.V173A; 6:24301754-24301754

 skinmalignant_melanomaSubstitution - Missense

c.804_805CT>TA; p.N268>?; 6:24278166-24278167

 lungcarcinoma; small_cell_carcinomaComplex

c.995A>T; p.D332V; 6:24205030-24205030

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1399C>A; p.Q467K; 6:24174762-24174762

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.867G>A; p.T289T; 6:24278104-24278104

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.867G>A; p.T289T; 6:24278104-24278104

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.948A>T; p.A316A; 6:24205077-24205077

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.819C>T; p.P273P; 6:24278152-24278152

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.87C>T; p.Y29Y; 6:24357664-24357664

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1177G>T; p.D393Y; 6:24178479-24178479

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.770G>A; p.R257H; 6:24278201-24278201

 pancreascarcinomaSubstitution - Missense

c.770G>A; p.R257H; 6:24278201-24278201

 prostatecarcinomaSubstitution - Missense

c.759+2T>C; p.?; 6:24288850-24288850

 stomachcarcinoma; adenocarcinomaUnknown

c.770G>A; p.R257H; 6:24278201-24278201

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.650A>G; p.K217R; 6:24290986-24290986

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.497G>T; p.W166L; 6:24301775-24301775

 thyroidcarcinoma; anaplastic_carcinomaSubstitution - Missense

c.687G>A; p.T229T; 6:24290949-24290949

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.741C>T; p.S247S; 6:24288870-24288870

 skinmalignant_melanomaSubstitution - coding silent

c.280T>G; p.F94V; 6:24357471-24357471

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

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