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

Basic Information

Gene ID

114826

Name

SMYD4

Synonymous

SET and MYND domain containing 4;SMYD4;SET and MYND domain containing 4

Definition

SET and MYND domain-containing protein 4

Position

17p13.3

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 0.02.

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.1577G>A; p.R526H; 17:1787565-1787565

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.442C>T; p.R148C; 17:1800952-1800952

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1514C>A; p.A505E; 17:1799880-1799880

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1736G>A; p.R579Q; 17:1786958-1786958

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.1736G>A; p.R579Q; 17:1786958-1786958

 pancreaspancreatic_intraepithelial_neoplasia_(PanIN)Substitution - Missense

c.1088T>G; p.V363G; 17:1800306-1800306

 skinmalignant_melanomaSubstitution - Missense

c.1137C>T; p.I379I; 17:1800257-1800257

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1480A>G; p.R494G; 17:1799914-1799914

 skinmalignant_melanomaSubstitution - Missense

c.2021-1G>C; p.?; 17:1783477-1783477

 lung; right_lower_lobecarcinoma; adenocarcinomaUnknown

c.117C>G; p.H39Q; 17:1827878-1827878

 breastcarcinomaSubstitution - Missense

c.190G>A; p.D64N; 17:1812060-1812060

 skin; upper_armmalignant_melanomaSubstitution - Missense

c.2327G>A; p.G776D; 17:1781374-1781374

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.831G>A; p.P277P; 17:1800563-1800563

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2327G>A; p.G776D; 17:1781374-1781374

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2326G>C; p.G776R; 17:1781375-1781375

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1294A>T; p.T432S; 17:1800100-1800100

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2119C>T; p.R707W; 17:1783378-1783378

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.696A>G; p.S232S; 17:1800698-1800698

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.99G>T; p.L33F; 17:1827896-1827896

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.99G>T; p.L33F; 17:1827896-1827896

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.706G>A; p.G236S; 17:1800688-1800688

 skinmalignant_melanomaSubstitution - Missense

c.2244C>T; p.A748A; 17:1783052-1783052

 skinmalignant_melanomaSubstitution - coding silent

c.706G>A; p.G236S; 17:1800688-1800688

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1621T>C; p.S541P; 17:1787521-1787521

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.616G>T; p.E206*; 17:1800778-1800778

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.238C>T; p.Q80*; 17:1812012-1812012

 skinmalignant_melanomaSubstitution - Nonsense

c.142G>A; p.D48N; 17:1812108-1812108

 skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.577C>T; p.R193C; 17:1800817-1800817

 breastcarcinomaSubstitution - Missense

c.1335C>G; p.L445L; 17:1800059-1800059

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1672C>T; p.R558W; 17:1787470-1787470

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2209A>G; p.S737G; 17:1783087-1783087

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1029A>T; p.T343T; 17:1800365-1800365

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1275C>A; p.V425V; 17:1800119-1800119

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1120A>G; p.I374V; 17:1800274-1800274

 prostatecarcinomaSubstitution - Missense

c.2309T>C; p.V770A; 17:1781392-1781392

 skinmalignant_melanomaSubstitution - Missense

c.983A>G; p.E328G; 17:1800411-1800411

 thyroidcarcinoma; papillary_carcinomaSubstitution - Missense

c.2338G>C; p.D780H; 17:1781363-1781363

 lung; middle_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.702C>A; p.S234S; 17:1800692-1800692

 breastcarcinomaSubstitution - coding silent

c.742G>A; p.V248I; 17:1800652-1800652

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1838C>A; p.P613H; 17:1786856-1786856

 ovaryother; neoplasmSubstitution - Missense

c.742G>A; p.V248I; 17:1800652-1800652

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.431A>T; p.K144M; 17:1800963-1800963

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2370C>T; p.S790S; 17:1781331-1781331

 skin; upper_armmalignant_melanomaSubstitution - coding silent

c.268C>G; p.L90V; 17:1811982-1811982

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.2364G>T; p.M788I; 17:1781337-1781337

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.72G>T; p.Q24H; 17:1827923-1827923

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.189G>C; p.K63N; 17:1812061-1812061

 skin; upper_armmalignant_melanomaSubstitution - Missense

c.676G>C; p.E226Q; 17:1800718-1800718

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.1929C>T; p.S643S; 17:1784417-1784417

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1181G>A; p.G394D; 17:1800213-1800213

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1641C>T; p.S547S; 17:1787501-1787501

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.692C>T; p.A231V; 17:1800702-1800702

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1696G>A; p.G566R; 17:1787446-1787446

 large_intestineadenomaSubstitution - Missense

c.1749C>T; p.A583A; 17:1786945-1786945

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1145C>G; p.P382R; 17:1800249-1800249

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1212C>T; p.I404I; 17:1800182-1800182

 stomachadenocarcinomaSubstitution - coding silent

c.1134C>T; p.D378D; 17:1800260-1800260

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.659C>T; p.A220V; 17:1800735-1800735

 pancreascarcinomaSubstitution - Missense

c.659C>T; p.A220V; 17:1800735-1800735

 pancreascarcinomaSubstitution - Missense

c.712T>A; p.C238S; 17:1800682-1800682

 skinmalignant_melanomaSubstitution - Missense

c.659C>T; p.A220V; 17:1800735-1800735

 pancreascarcinomaSubstitution - Missense

c.1346C>T; p.A449V; 17:1800048-1800048

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1280A>G; p.N427S; 17:1800114-1800114

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.21A>G; p.E7E; 17:1827974-1827974

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.21A>G; p.E7E; 17:1827974-1827974

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.290A>G; p.H97R; 17:1804705-1804705

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.290A>G; p.H97R; 17:1804705-1804705

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.585A>G; p.K195K; 17:1800809-1800809

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2223C>T; p.G741G; 17:1783073-1783073

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.608G>A; p.S203N; 17:1800786-1800786

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.338C>T; p.S113L; 17:1804657-1804657

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.706G>T; p.G236C; 17:1800688-1800688

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1422A>C; p.K474N; 17:1799972-1799972

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.923C>T; p.P308L; 17:1800471-1800471

 skinmalignant_melanomaSubstitution - Missense

c.210C>G; p.F70L; 17:1812040-1812040

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.156A>T; p.L52L; 17:1812094-1812094

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1196A>C; p.E399A; 17:1800198-1800198

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.2175T>C; p.S725S; 17:1783121-1783121

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2347C>T; p.Q783*; 17:1781354-1781354

 skinmalignant_melanomaSubstitution - Nonsense

c.2064G>C; p.E688D; 17:1783433-1783433

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.382G>A; p.D128N; 17:1801012-1801012

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1764G>T; p.K588N; 17:1786930-1786930

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1642G>C; p.V548L; 17:1787500-1787500

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2194C>T; p.R732C; 17:1783102-1783102

 skinmalignant_melanomaSubstitution - Missense

c.1646C>T; p.S549F; 17:1787496-1787496

 skinmalignant_melanomaSubstitution - Missense

c.1108C>T; p.L370F; 17:1800286-1800286

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2341G>A; p.E781K; 17:1781360-1781360

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.874G>A; p.G292R; 17:1800520-1800520

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.34C>G; p.L12V; 17:1827961-1827961

 livercarcinomaSubstitution - Missense

c.982delG; p.E328fs*25; 17:1800412-1800412

 lungcarcinoma; small_cell_carcinomaDeletion - Frameshift

c.34C>G; p.L12V; 17:1827961-1827961

 livercarcinomaSubstitution - Missense

c.1000G>C; p.E334Q; 17:1800394-1800394

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.722C>A; p.P241H; 17:1800672-1800672

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.612C>T; p.L204L; 17:1800782-1800782

 breastcarcinomaSubstitution - coding silent

c.2315C>T; p.S772L; 17:1781386-1781386

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1047C>T; p.H349H; 17:1800347-1800347

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.2390C>A; p.P797H; 17:1781311-1781311

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2390C>A; p.P797H; 17:1781311-1781311

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2390C>A; p.P797H; 17:1781311-1781311

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.2390C>A; p.P797H; 17:1781311-1781311

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2390C>A; p.P797H; 17:1781311-1781311

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.2390C>A; p.P797H; 17:1781311-1781311

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2103C>T; p.I701I; 17:1783394-1783394

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2103C>T; p.I701I; 17:1783394-1783394

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2180A>G; p.Y727C; 17:1783116-1783116

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1891G>A; p.D631N; 17:1784455-1784455

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.981G>T; p.W327C; 17:1800413-1800413

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.832C>G; p.H278D; 17:1800562-1800562

 breastcarcinomaSubstitution - Missense

c.981G>T; p.W327C; 17:1800413-1800413

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1597C>T; p.P533S; 17:1787545-1787545

 skin; trunkmalignant_melanoma; nodularSubstitution - Missense

c.1597C>T; p.P533S; 17:1787545-1787545

 skinmalignant_melanomaSubstitution - Missense

c.1791C>T; p.C597C; 17:1786903-1786903

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1473G>A; p.A491A; 17:1799921-1799921

 breastcarcinomaSubstitution - coding silent

c.1684C>T; p.R562W; 17:1787458-1787458

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1684C>T; p.R562W; 17:1787458-1787458

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.2365A>G; p.K789E; 17:1781336-1781336

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1735C>T; p.R579W; 17:1786959-1786959

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1451A>G; p.D484G; 17:1799943-1799943

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.686C>A; p.S229Y; 17:1800708-1800708

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2350G>T; p.E784*; 17:1781351-1781351

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.598delG; p.E200fs*22; 17:1800796-1800796

 skin; head_neckcarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.957C>T; p.S319S; 17:1800437-1800437

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.676G>A; p.E226K; 17:1800718-1800718

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.2338G>T; p.D780Y; 17:1781363-1781363

 thyroidcarcinoma; anaplastic_carcinomaSubstitution - Missense

c.135-10C>T; p.?; 17:1812125-1812125

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.392G>T; p.R131I; 17:1801002-1801002

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.392G>T; p.R131I; 17:1801002-1801002

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.392G>T; p.R131I; 17:1801002-1801002

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.392G>T; p.R131I; 17:1801002-1801002

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1801G>C; p.A601P; 17:1786893-1786893

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.359G>A; p.G120D; 17:1804636-1804636

 breastcarcinomaSubstitution - Missense

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