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

Basic Information

Gene ID

1848

Name

DUSP6

Synonymous

dual specificity phosphatase 6;DUSP6;dual specificity phosphatase 6

Definition

MAP kinase phosphatase 3|dual specificity protein phosphatase 6|dual specificity protein phosphatase PYST1|mitogen-activated protein kinase phosphatase 3|serine/threonine specific protein phosphatase

Position

12q22-q23

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

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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 0.17.

The copy number variations for various cancers

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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.450T>C; p.N150N; 12:89350976-89350976

 breastcarcinomaSubstitution - coding silent

c.815delT; p.F272fs*8; 12:89350611-89350611

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.899C>T; p.S300L; 12:89349501-89349501

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Missense

c.899C>T; p.S300L; 12:89349501-89349501

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.901G>A; p.V301I; 12:89349499-89349499

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.800A>G; p.N267S; 12:89350626-89350626

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.800A>G; p.N267S; 12:89350626-89350626

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.582G>A; p.S194S; 12:89350844-89350844

 pancreascarcinoma; ductal_carcinomaSubstitution - coding silent

c.553G>C; p.D185H; 12:89350873-89350873

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.375G>T; p.E125D; 12:89351665-89351665

 thyroidother; neoplasmSubstitution - Missense

c.620C>A; p.P207Q; 12:89350806-89350806

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.620C>A; p.P207Q; 12:89350806-89350806

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.715G>A; p.V239I; 12:89350711-89350711

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.762A>G; p.K254K; 12:89350664-89350664

 livercarcinomaSubstitution - coding silent

c.1139C>T; p.S380F; 12:89349261-89349261

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1139C>T; p.S380F; 12:89349261-89349261

 skin; extremitymalignant_melanomaSubstitution - Missense

c.93C>A; p.N31K; 12:89351947-89351947

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.830C>A; p.S277Y; 12:89350596-89350596

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.73G>A; p.E25K; 12:89351967-89351967

 breastcarcinomaSubstitution - Missense

c.729G>A; p.L243L; 12:89350697-89350697

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.855G>T; p.K285N; 12:89349545-89349545

 prostateadenomaSubstitution - Missense

c.231C>T; p.F77F; 12:89351809-89351809

 thyroidcarcinomaSubstitution - coding silent

c.1009A>T; p.M337L; 12:89349391-89349391

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.810G>C; p.Q270H; 12:89350616-89350616

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.952G>C; p.D318H; 12:89349448-89349448

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1133_1134insT; p.Q379fs*>4; 12:89349266-89349267

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.742G>T; p.E248*; 12:89350684-89350684

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.66G>A; p.W22*; 12:89351974-89351974

 pancreascarcinomaSubstitution - Nonsense

c.340G>T; p.V114L; 12:89351700-89351700

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.340G>T; p.V114L; 12:89351700-89351700

 thyroidother; neoplasmSubstitution - Missense

c.634C>T; p.P212S; 12:89350792-89350792

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.634C>T; p.P212S; 12:89350792-89350792

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.736C>A; p.L246I; 12:89350690-89350690

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.523G>A; p.D175N; 12:89350903-89350903

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.523G>A; p.D175N; 12:89350903-89350903

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1005C>T; p.N335N; 12:89349395-89349395

 breastcarcinomaSubstitution - coding silent

c.1022T>G; p.L341R; 12:89349378-89349378

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.526T>C; p.S176P; 12:89350900-89350900

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.247C>T; p.R83W; 12:89351793-89351793

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.556C>T; p.R186*; 12:89350870-89350870

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.656C>A; p.A219D; 12:89350770-89350770

 skin; earcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.505_506delGG; p.G169fs*6; 12:89350920-89350921

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.896G>A; p.R299H; 12:89349504-89349504

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1016A>T; p.Q339L; 12:89349384-89349384

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.348G>A; p.G116G; 12:89351692-89351692

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.972A>G; p.K324K; 12:89349428-89349428

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.543G>A; p.E181E; 12:89350883-89350883

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.911C>T; p.T304I; 12:89349489-89349489

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.611C>T; p.P204L; 12:89350815-89350815

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.550C>A; p.L184I; 12:89350876-89350876

 thyroidother; neoplasmSubstitution - Missense

c.611C>T; p.P204L; 12:89350815-89350815

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.611C>T; p.P204L; 12:89350815-89350815

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.25C>T; p.P9S; 12:89352015-89352015

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1110G>C; p.Q370H; 12:89349290-89349290

 pancreascarcinomaSubstitution - Missense

c.1110G>C; p.Q370H; 12:89349290-89349290

 lungcarcinoma; adenocarcinomaSubstitution - Missense

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