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

Basic Information

Gene ID

127700

Name

OSCP1

Synonymous

organic solute carrier partner 1;OSCP1;organic solute carrier partner 1

Definition

hOSCP1|organic solute carrier protein 1|organic solute transport protein 1|oxidored nitro domain containing protein|oxidored-nitro domain-containing protein 1|protein OSCP1

Position

1p34.3

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

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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 0.10.

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.631G>T; p.E211*; 1:36423382-36423382

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.530A>G; p.Q177R; 1:36431818-36431818

 skinmalignant_melanomaSubstitution - Missense

c.1056C>T; p.D352D; 1:36418253-36418253

 breastcarcinomaSubstitution - coding silent

c.895T>A; p.L299M; 1:36420570-36420570

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.765A>T; p.K255N; 1:36422782-36422782

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.101A>C; p.K34T; 1:36450269-36450269

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.985G>C; p.E329Q; 1:36420480-36420480

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.876T>C; p.A292A; 1:36420589-36420589

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.749G>A; p.G250E; 1:36422798-36422798

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.749G>A; p.G250E; 1:36422798-36422798

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1072G>T; p.E358*; 1:36418237-36418237

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.215A>G; p.Y72C; 1:36438838-36438838

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.505C>T; p.R169W; 1:36431843-36431843

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.667G>T; p.G223C; 1:36422880-36422880

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.686T>C; p.I229T; 1:36422861-36422861

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.748G>A; p.G250R; 1:36422799-36422799

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.686T>C; p.I229T; 1:36422861-36422861

 thyroidother; neoplasmSubstitution - Missense

c.686T>C; p.I229T; 1:36422861-36422861

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.731G>A; p.G244D; 1:36422816-36422816

 skinmalignant_melanomaSubstitution - Missense

c.205C>G; p.Q69E; 1:36438848-36438848

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.666A>G; p.K222K; 1:36422881-36422881

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.405C>T; p.F135F; 1:36432482-36432482

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1038C>A; p.N346K; 1:36419006-36419006

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.939C>T; p.G313G; 1:36420526-36420526

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.849G>T; p.Q283H; 1:36422150-36422150

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.421A>G; p.T141A; 1:36432466-36432466

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.421A>G; p.T141A; 1:36432466-36432466

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.421A>G; p.T141A; 1:36432466-36432466

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.421A>G; p.T141A; 1:36432466-36432466

 pancreasNSSubstitution - Missense

c.421A>G; p.T141A; 1:36432466-36432466

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1086C>G; p.I362M; 1:36418223-36418223

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.421A>G; p.T141A; 1:36432466-36432466

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.274C>T; p.L92L; 1:36438779-36438779

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1149C>T; p.L383L; 1:36418160-36418160

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.734C>A; p.S245Y; 1:36422813-36422813

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.734C>A; p.S245Y; 1:36422813-36422813

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.949G>T; p.G317*; 1:36420516-36420516

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Nonsense

c.1099G>C; p.E367Q; 1:36418210-36418210

 breastcarcinomaSubstitution - Missense

c.40G>A; p.G14S; 1:36450330-36450330

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.574C>G; p.Q192E; 1:36423439-36423439

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.525C>T; p.F175F; 1:36431823-36431823

 prostatecarcinomaSubstitution - coding silent

c.532G>A; p.D178N; 1:36431816-36431816

 skinmalignant_melanomaSubstitution - Missense

c.949G>A; p.G317R; 1:36420516-36420516

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.949G>A; p.G317R; 1:36420516-36420516

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.949G>A; p.G317R; 1:36420516-36420516

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1011A>G; p.P337P; 1:36419033-36419033

 skinmalignant_melanomaSubstitution - coding silent

c.949G>A; p.G317R; 1:36420516-36420516

 kidneyother; neoplasmSubstitution - Missense

c.915delG; p.M306fs*15; 1:36420550-36420550

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.837C>T; p.A279A; 1:36422162-36422162

 skinmalignant_melanomaSubstitution - coding silent

c.580A>T; p.N194Y; 1:36423433-36423433

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.585C>T; p.N195N; 1:36423428-36423428

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1068C>T; p.S356S; 1:36418241-36418241

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.585C>T; p.N195N; 1:36423428-36423428

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.710A>G; p.Y237C; 1:36422837-36422837

 livercarcinomaSubstitution - Missense

c.425T>A; p.I142N; 1:36432462-36432462

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.425T>A; p.I142N; 1:36432462-36432462

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.1140C>T; p.D380D; 1:36418169-36418169

 lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.485C>A; p.A162E; 1:36431863-36431863

 haematopoietic_and_lymphoid_tissue; spleenlymphoid_neoplasm; marginal_zone_lymphomaSubstitution - Missense

c.257A>G; p.H86R; 1:36438796-36438796

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.899C>T; p.A300V; 1:36420566-36420566

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.912A>G; p.G304G; 1:36420553-36420553

 pancreascarcinomaSubstitution - coding silent

c.547G>A; p.V183I; 1:36423466-36423466

 skin; extremitymalignant_melanomaSubstitution - Missense

c.48G>A; p.E16E; 1:36450322-36450322

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.810T>G; p.H270Q; 1:36422189-36422189

 breastcarcinomaSubstitution - Missense

c.712G>A; p.V238I; 1:36422835-36422835

 skinmalignant_melanomaSubstitution - Missense

c.947C>T; p.P316L; 1:36420518-36420518

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.913G>T; p.G305W; 1:36420552-36420552

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.913G>T; p.G305W; 1:36420552-36420552

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.913G>T; p.G305W; 1:36420552-36420552

 large_intestine; coloncarcinomaSubstitution - Missense

c.913G>T; p.G305W; 1:36420552-36420552

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.866A>T; p.N289I; 1:36420599-36420599

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.894C>T; p.F298F; 1:36420571-36420571

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.416C>T; p.S139F; 1:36432471-36432471

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.218C>A; p.S73Y; 1:36438835-36438835

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.276G>T; p.L92L; 1:36438777-36438777

 NSNSSubstitution - coding silent

c.755G>A; p.R252Q; 1:36422792-36422792

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.611G>A; p.G204E; 1:36423402-36423402

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.610G>T; p.G204W; 1:36423403-36423403

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.97G>C; p.D33H; 1:36450273-36450273

 breastcarcinomaSubstitution - Missense

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