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

Basic Information

Gene ID

2145

Name

EZH1

Synonymous

enhancer of zeste 1 polycomb repressive complex 2 subunit;EZH1;enhancer of zeste 1 polycomb repressive complex 2 subunit

Definition

ENX-2|enhancer of zeste homolog 1|histone-lysine N-methyltransferase EZH1

Position

17q21.1-q21.3

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 0.15.

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.1257A>C; p.P419P; 17:42712433-42712433

 breastcarcinomaSubstitution - coding silent

c.924C>T; p.F308F; 17:42718461-42718461

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1546A>G; p.T516A; 17:42708072-42708072

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1045A>T; p.M349L; 17:42713368-42713368

 thyroidcarcinomaSubstitution - Missense

c.1898_1899delTG; p.V633fs*8; 17:42705124-42705125

 stomachadenocarcinomaDeletion - Frameshift

c.1878C>T; p.G626G; 17:42705145-42705145

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.2163A>G; p.E721E; 17:42702897-42702897

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1250C>A; p.P417Q; 17:42712440-42712440

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1786G>A; p.D596N; 17:42706060-42706060

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1473_1481delGAAGAAGAA; p.K492_K494delKKK; 17:42709858-42709866

 kidneycarcinoma; clear_cell_renal_cell_carcinomaDeletion - In frame

c.473T>A; p.V158D; 17:42722809-42722809

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelofibrosisSubstitution - Missense

c.1794G>T; p.K598N; 17:42706052-42706052

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1724A>C; p.Y575S; 17:42706122-42706122

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1964G>A; p.R655H; 17:42704655-42704655

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1964G>A; p.R655H; 17:42704655-42704655

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1383G>T; p.G461G; 17:42712307-42712307

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.2122C>T; p.R708W; 17:42702938-42702938

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2122C>T; p.R708W; 17:42702938-42702938

 pancreascarcinomaSubstitution - Missense

c.438T>C; p.F146F; 17:42722844-42722844

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2238C>T; p.V746V; 17:42702538-42702538

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.573G>T; p.E191D; 17:42720364-42720364

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1311T>C; p.A437A; 17:42712379-42712379

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.573G>T; p.E191D; 17:42720364-42720364

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1572C>T; p.C524C; 17:42708046-42708046

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1270G>A; p.V424I; 17:42712420-42712420

 pancreascarcinomaSubstitution - Missense

c.1270G>A; p.V424I; 17:42712420-42712420

 pancreascarcinomaSubstitution - Missense

c.2074G>T; p.V692L; 17:42703764-42703764

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.246G>A; p.K82K; 17:42727635-42727635

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.973G>A; p.E325K; 17:42718026-42718026

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1123G>A; p.A375T; 17:42713290-42713290

 breastcarcinomaSubstitution - Missense

c.1637A>T; p.K546M; 17:42707981-42707981

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2165A>G; p.E722G; 17:42702895-42702895

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2165A>G; p.E722G; 17:42702895-42702895

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1434C>A; p.I478I; 17:42709905-42709905

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.807T>C; p.L269L; 17:42718578-42718578

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.831C>T; p.I277I; 17:42718554-42718554

 skinmalignant_melanomaSubstitution - coding silent

c.389G>A; p.C130Y; 17:42722893-42722893

 livercarcinomaSubstitution - Missense

c.389G>A; p.C130Y; 17:42722893-42722893

 livercarcinomaSubstitution - Missense

c.418A>G; p.K140E; 17:42722864-42722864

 livercarcinomaSubstitution - Missense

c.1153G>C; p.E385Q; 17:42713260-42713260

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.366G>A; p.M122I; 17:42724305-42724305

 meningesmeningiomaSubstitution - Missense

c.1729G>A; p.A577T; 17:42706117-42706117

 skinmalignant_melanomaSubstitution - Missense

c.809C>T; p.P270L; 17:42718576-42718576

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1693A>G; p.T565A; 17:42706153-42706153

 lung; middle_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1003A>G; p.T335A; 17:42717996-42717996

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1964G>C; p.R655P; 17:42704655-42704655

 breastcarcinomaSubstitution - Missense

c.1909G>A; p.E637K; 17:42705114-42705114

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1802C>T; p.S601F; 17:42706044-42706044

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1015C>A; p.L339I; 17:42717984-42717984

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2156C>T; p.A719V; 17:42702904-42702904

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2116G>C; p.D706H; 17:42702944-42702944

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1675C>T; p.P559S; 17:42706171-42706171

 skinmalignant_melanomaSubstitution - Missense

c.1675C>T; p.P559S; 17:42706171-42706171

 skinmalignant_melanomaSubstitution - Missense

c.1875G>T; p.W625C; 17:42705148-42705148

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1402-1G>T; p.?; 17:42709938-42709938

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.642G>C; p.K214N; 17:42720295-42720295

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2054T>A; p.I685N; 17:42703784-42703784

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1785G>A; p.W595*; 17:42706061-42706061

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.484G>T; p.E162*; 17:42722798-42722798

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.2081C>T; p.P694L; 17:42703757-42703757

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1214C>T; p.S405F; 17:42712476-42712476

 skinmalignant_melanomaSubstitution - Missense

c.484G>C; p.E162Q; 17:42722798-42722798

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.599G>A; p.G200E; 17:42720338-42720338

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.966G>T; p.K322N; 17:42718033-42718033

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1391C>T; p.T464M; 17:42712299-42712299

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.1243G>T; p.A415S; 17:42712447-42712447

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1669C>T; p.R557C; 17:42706177-42706177

 skinmalignant_melanomaSubstitution - Missense

c.1328G>A; p.R443Q; 17:42712362-42712362

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.2182A>G; p.R728G; 17:42702878-42702878

 lungcarcinoid-endocrine_tumour; typicalSubstitution - Missense

c.2161G>A; p.E721K; 17:42702899-42702899

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.965A>G; p.K322R; 17:42718034-42718034

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.426A>T; p.E142D; 17:42722856-42722856

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1015C>T; p.L339F; 17:42717984-42717984

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1096C>T; p.H366Y; 17:42713317-42713317

 skinmalignant_melanomaSubstitution - Missense

c.1586G>A; p.R529H; 17:42708032-42708032

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.888A>G; p.T296T; 17:42718497-42718497

 skinmalignant_melanomaSubstitution - coding silent

c.79C>T; p.R27*; 17:42728863-42728863

 breastcarcinomaSubstitution - Nonsense

c.1919C>T; p.S640F; 17:42705104-42705104

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1147A>G; p.T383A; 17:42713266-42713266

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.2029G>A; p.D677N; 17:42703809-42703809

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.678T>G; p.S226R; 17:42719194-42719194

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; essential_thrombocythaemiaSubstitution - Missense

c.198A>G; p.Q66Q; 17:42727683-42727683

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.270G>A; p.P90P; 17:42724401-42724401

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.390C>A; p.C130*; 17:42722892-42722892

 adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningSubstitution - Nonsense

c.2072C>T; p.S691L; 17:42703766-42703766

 breastcarcinomaSubstitution - Missense

c.97C>A; p.Q33K; 17:42728845-42728845

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1473G>T; p.Q491H; 17:42709866-42709866

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1965C>T; p.R655R; 17:42704654-42704654

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - coding silent

c.1957G>A; p.D653N; 17:42704662-42704662

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1811A>G; p.N604S; 17:42706035-42706035

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.2056C>T; p.R686*; 17:42703782-42703782

 endometriumcarcinoma; serous_carcinomaSubstitution - Nonsense

c.390C>T; p.C130C; 17:42722892-42722892

 livercarcinomaSubstitution - coding silent

c.390C>T; p.C130C; 17:42722892-42722892

 livercarcinomaSubstitution - coding silent

c.1562A>G; p.Y521C; 17:42708056-42708056

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1925A>T; p.Y642F; 17:42705098-42705098

 thyroidcarcinomaSubstitution - Missense

c.2165A>T; p.E722V; 17:42702895-42702895

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2057G>A; p.R686Q; 17:42703781-42703781

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2057G>A; p.R686Q; 17:42703781-42703781

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2211C>T; p.Y737Y; 17:42702565-42702565

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.985G>A; p.E329K; 17:42718014-42718014

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.16C>T; p.P6S; 17:42728926-42728926

 skinmalignant_melanomaSubstitution - Missense

c.1146G>A; p.E382E; 17:42713267-42713267

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1023+1G>T; p.?; 17:42717975-42717975

 central_nervous_system; braingliomaUnknown

c.1112C>T; p.S371F; 17:42713301-42713301

 prostatecarcinomaSubstitution - Missense

c.62C>A; p.S21Y; 17:42728880-42728880

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2038C>T; p.R680W; 17:42703800-42703800

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1473G>A; p.Q491Q; 17:42709866-42709866

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1466C>T; p.P489L; 17:42709873-42709873

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2160C>T; p.G720G; 17:42702900-42702900

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1466C>T; p.P489L; 17:42709873-42709873

 skinmalignant_melanomaSubstitution - Missense

c.962G>A; p.R321H; 17:42718037-42718037

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2220C>T; p.I740I; 17:42702556-42702556

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1283C>T; p.P428L; 17:42712407-42712407

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.74G>A; p.R25Q; 17:42728868-42728868

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.74G>A; p.R25Q; 17:42728868-42728868

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1735C>T; p.R579*; 17:42706111-42706111

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1286C>T; p.S429L; 17:42712404-42712404

 pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.973G>T; p.E325*; 17:42718026-42718026

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.973G>T; p.E325*; 17:42718026-42718026

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.10C>T; p.P4S; 17:42728932-42728932

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.451A>T; p.I151F; 17:42722831-42722831

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.859C>T; p.R287W; 17:42718526-42718526

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1327C>T; p.R443*; 17:42712363-42712363

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Nonsense

c.56T>G; p.V19G; 17:42728886-42728886

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1327C>T; p.R443*; 17:42712363-42712363

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

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