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

Basic Information

Gene ID

57107

Name

PDSS2

Synonymous

prenyl (decaprenyl) diphosphate synthase, subunit 2;PDSS2;prenyl (decaprenyl) diphosphate synthase, subunit 2

Definition

all-trans-decaprenyl-diphosphate synthase subunit 2|decaprenyl pyrophosphate synthase subunit 2|decaprenyl pyrophosphate synthetase subunit 2|decaprenyl-diphosphate synthase subunit 2|subunit 2 of decaprenyl diphosphate synthase

Position

6q21

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 0.03.

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.7T>C; p.F3L; 6:107459279-107459279

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1002C>T; p.I334I; 6:107210445-107210445

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.595G>A; p.A199T; 6:107274064-107274064

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.586C>T; p.L196L; 6:107274073-107274073

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.877A>G; p.I293V; 6:107210570-107210570

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.667G>C; p.V223L; 6:107245583-107245583

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.88G>T; p.D30Y; 6:107459198-107459198

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.474T>C; p.A158A; 6:107274185-107274185

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.474T>C; p.A158A; 6:107274185-107274185

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.247C>G; p.Q83E; 6:107459039-107459039

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1127T>C; p.L376P; 6:107154692-107154692

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.392C>T; p.S131L; 6:107334237-107334237

 skinmalignant_melanomaSubstitution - Missense

c.735G>C; p.S245S; 6:107212250-107212250

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.193T>C; p.S65P; 6:107459093-107459093

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.887A>T; p.D296V; 6:107210560-107210560

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.381C>T; p.S127S; 6:107334248-107334248

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.552A>C; p.G184G; 6:107274107-107274107

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.105G>A; p.V35V; 6:107459181-107459181

 skinmalignant_melanomaSubstitution - coding silent

c.40C>T; p.L14F; 6:107459246-107459246

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.927G>C; p.M309I; 6:107210520-107210520

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.939A>G; p.L313L; 6:107210508-107210508

 breastcarcinomaSubstitution - coding silent

c.208C>A; p.R70S; 6:107459078-107459078

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.418G>C; p.G140R; 6:107334211-107334211

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.668T>C; p.V223A; 6:107245582-107245582

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.668T>C; p.V223A; 6:107245582-107245582

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.364G>T; p.A122S; 6:107334265-107334265

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.217C>T; p.L73L; 6:107459069-107459069

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.96C>A; p.I32I; 6:107459190-107459190

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.847T>C; p.Y283H; 6:107212138-107212138

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.504A>G; p.L168L; 6:107274155-107274155

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.177C>T; p.I59I; 6:107459109-107459109

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.81G>A; p.P27P; 6:107459205-107459205

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.925A>G; p.M309V; 6:107210522-107210522

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.219G>A; p.L73L; 6:107459067-107459067

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.33A>C; p.P11P; 6:107459253-107459253

 breastcarcinomaSubstitution - coding silent

c.1097G>A; p.R366H; 6:107154722-107154722

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.772T>G; p.L258V; 6:107212213-107212213

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Missense

c.856C>T; p.H286Y; 6:107212129-107212129

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.575G>A; p.G192E; 6:107274084-107274084

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.474T>G; p.A158A; 6:107274185-107274185

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.104T>C; p.V35A; 6:107459182-107459182

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.472G>T; p.A158S; 6:107274187-107274187

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.669A>T; p.V223V; 6:107245581-107245581

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.349C>T; p.L117F; 6:107334280-107334280

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.973C>A; p.L325I; 6:107210474-107210474

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.863C>T; p.A288V; 6:107212122-107212122

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.482T>A; p.V161E; 6:107274177-107274177

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.484C>T; p.H162Y; 6:107274175-107274175

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.626C>G; p.T209S; 6:107274033-107274033

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.950C>T; p.P317L; 6:107210497-107210497

 skinmalignant_melanomaSubstitution - Missense

c.692C>A; p.S231Y; 6:107245558-107245558

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.11G>C; p.R4P; 6:107459275-107459275

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.11G>C; p.R4P; 6:107459275-107459275

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1051A>T; p.R351*; 6:107154768-107154768

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1056C>A; p.I352I; 6:107154763-107154763

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.833A>G; p.N278S; 6:107212152-107212152

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.815A>C; p.H272P; 6:107212170-107212170

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1125C>T; p.A375A; 6:107154694-107154694

 skinmalignant_melanomaSubstitution - coding silent

c.446C>T; p.A149V; 6:107274213-107274213

 breastcarcinomaSubstitution - Missense

c.473C>T; p.A158V; 6:107274186-107274186

 pancreascarcinomaSubstitution - Missense

c.139G>A; p.A47T; 6:107459147-107459147

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.44G>T; p.G15V; 6:107459242-107459242

 lungcarcinoma; large_cell_carcinomaSubstitution - Missense

c.56C>T; p.S19F; 6:107459230-107459230

 urinary_tract; bladdercarcinomaSubstitution - Missense

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