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

Basic Information

Gene ID

5325

Name

PLAGL1

Synonymous

pleiomorphic adenoma gene-like 1;PLAGL1;pleiomorphic adenoma gene-like 1

Definition

LOT-1|PLAG-like 1|lost on transformation 1|pleiomorphic adenoma-like protein 1|tumor suppressor ZAC|zinc finger protein PLAGL1

Position

6q24-q25

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

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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

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Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.07.

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.154C>T; p.H52Y; 6:143942662-143942662

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.644G>A; p.S215N; 6:143942172-143942172

 skinmalignant_melanomaSubstitution - Missense

c.342G>A; p.A114A; 6:143942474-143942474

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.1082T>C; p.L361P; 6:143941734-143941734

 prostatecarcinomaSubstitution - Missense

c.885G>A; p.P295P; 6:143941931-143941931

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1032G>T; p.K344N; 6:143941784-143941784

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1092G>A; p.E364E; 6:143941724-143941724

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.863C>T; p.S288L; 6:143941953-143941953

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.749A>G; p.N250S; 6:143942067-143942067

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.204G>A; p.E68E; 6:143942612-143942612

 skinmalignant_melanomaSubstitution - coding silent

c.1323delC; p.I442fs*>22; 6:143941493-143941493

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.762T>A; p.S254R; 6:143942054-143942054

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.395C>G; p.T132S; 6:143942421-143942421

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1167G>A; p.L389L; 6:143941649-143941649

 livercarcinomaSubstitution - coding silent

c.313G>T; p.G105C; 6:143942503-143942503

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1167G>A; p.L389L; 6:143941649-143941649

 livercarcinomaSubstitution - coding silent

c.112G>C; p.D38H; 6:143948025-143948025

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.507G>A; p.K169K; 6:143942309-143942309

 skinmalignant_melanomaSubstitution - coding silent

c.889C>G; p.P297A; 6:143941927-143941927

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.842C>G; p.S281C; 6:143941974-143941974

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.743C>T; p.A248V; 6:143942073-143942073

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1154G>A; p.G385D; 6:143941662-143941662

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.462G>T; p.K154N; 6:143942354-143942354

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1187A>G; p.N396S; 6:143941629-143941629

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1344T>C; p.A448A; 6:143941472-143941472

 thyroidother; neoplasmSubstitution - coding silent

c.396C>T; p.T132T; 6:143942420-143942420

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1089G>A; p.K363K; 6:143941727-143941727

 skinmalignant_melanomaSubstitution - coding silent

c.196C>A; p.H66N; 6:143942620-143942620

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1202G>A; p.S401N; 6:143941614-143941614

 skin; trunkmalignant_melanomaSubstitution - Missense

c.51G>T; p.E17D; 6:143948086-143948086

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.429G>A; p.A143A; 6:143942387-143942387

 livercarcinomaSubstitution - coding silent

c.429G>A; p.A143A; 6:143942387-143942387

 livercarcinomaSubstitution - coding silent

c.814G>A; p.A272T; 6:143942002-143942002

 pancreascarcinomaSubstitution - Missense

c.134C>T; p.S45F; 6:143948003-143948003

 skinmalignant_melanomaSubstitution - Missense

c.134C>T; p.S45F; 6:143948003-143948003

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.134C>T; p.S45F; 6:143948003-143948003

 livercarcinomaSubstitution - Missense

c.838G>A; p.E280K; 6:143941978-143941978

 skinmalignant_melanomaSubstitution - Missense

c.919T>G; p.S307A; 6:143941897-143941897

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1025C>T; p.P342L; 6:143941791-143941791

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.350G>C; p.S117T; 6:143942466-143942466

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.640G>A; p.E214K; 6:143942176-143942176

 skinmalignant_melanomaSubstitution - Missense

c.445A>G; p.S149G; 6:143942371-143942371

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.514C>T; p.R172*; 6:143942302-143942302

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1148T>C; p.L383P; 6:143941668-143941668

 skin; backmalignant_melanomaSubstitution - Missense

c.864G>T; p.S288S; 6:143941952-143941952

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1211C>T; p.A404V; 6:143941605-143941605

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1343C>T; p.A448V; 6:143941473-143941473

 thyroidother; neoplasmSubstitution - Missense

c.1327C>T; p.P443S; 6:143941489-143941489

 skinmalignant_melanomaSubstitution - Missense

c.1322C>A; p.P441H; 6:143941494-143941494

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.747G>A; p.Q249Q; 6:143942069-143942069

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.747G>A; p.Q249Q; 6:143942069-143942069

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.781C>T; p.H261Y; 6:143942035-143942035

 skinmalignant_melanomaSubstitution - Missense

c.1342G>A; p.A448T; 6:143941474-143941474

 thyroidother; neoplasmSubstitution - Missense

c.758C>T; p.A253V; 6:143942058-143942058

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1355C>T; p.S452F; 6:143941461-143941461

 skinmalignant_melanomaSubstitution - Missense

c.973T>G; p.F325V; 6:143941843-143941843

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1340C>T; p.S447L; 6:143941476-143941476

 thyroidother; neoplasmSubstitution - Missense

c.59C>T; p.T20M; 6:143948078-143948078

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.584G>A; p.R195H; 6:143942232-143942232

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.457G>A; p.E153K; 6:143942359-143942359

 skinmalignant_melanomaSubstitution - Missense

c.1022C>G; p.S341*; 6:143941794-143941794

 prostateadenomaSubstitution - Nonsense

c.421G>T; p.A141S; 6:143942395-143942395

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1378C>T; p.H460Y; 6:143941438-143941438

 skinmalignant_melanomaSubstitution - Missense

c.1112A>C; p.N371T; 6:143941704-143941704

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1369C>G; p.H457D; 6:143941447-143941447

 livercarcinomaSubstitution - Missense

c.1369C>G; p.H457D; 6:143941447-143941447

 livercarcinomaSubstitution - Missense

c.892C>T; p.L298F; 6:143941924-143941924

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.411C>T; p.D137D; 6:143942405-143942405

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.420delA; p.A141fs*71; 6:143942396-143942396

 oesophaguscarcinoma; adenocarcinomaDeletion - Frameshift

c.860C>T; p.P287L; 6:143941956-143941956

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.764G>A; p.S255N; 6:143942052-143942052

 skinmalignant_melanomaSubstitution - Missense

c.765C>T; p.S255S; 6:143942051-143942051

 oesophaguscarcinomaSubstitution - coding silent

c.985A>C; p.S329R; 6:143941831-143941831

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.218G>A; p.R73Q; 6:143942598-143942598

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1213C>A; p.L405M; 6:143941603-143941603

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1213C>A; p.L405M; 6:143941603-143941603

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.35C>T; p.T12M; 6:143948102-143948102

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

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