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

Basic Information

Gene ID

141

Name

ADPRH

Synonymous

ADP-ribosylarginine hydrolase;ADPRH;ADP-ribosylarginine hydrolase

Definition

ADP-ribose-L-arginine cleaving enzyme|[Protein ADP-ribosylarginine] hydrolase

Position

3q13.31-q13.33

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 0.23.

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.166G>A; p.D56N; 3:119582335-119582335

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.513G>A; p.G171G; 3:119586499-119586499

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.890T>G; p.F297C; 3:119587694-119587694

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.688_689insACCTA; p.K232fs*2; 3:119587492-119587493

 oesophaguscarcinoma; adenocarcinomaInsertion - Frameshift

c.774C>T; p.Y258Y; 3:119587578-119587578

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.373C>T; p.H125Y; 3:119586359-119586359

 skinmalignant_melanomaSubstitution - Missense

c.31A>C; p.S11R; 3:119582200-119582200

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.362C>T; p.P121L; 3:119586348-119586348

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.362C>T; p.P121L; 3:119586348-119586348

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.362C>T; p.P121L; 3:119586348-119586348

 skinmalignant_melanomaSubstitution - Missense

c.884G>A; p.R295Q; 3:119587688-119587688

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.309G>A; p.S103S; 3:119586295-119586295

 skinmalignant_melanomaSubstitution - coding silent

c.716G>T; p.G239V; 3:119587520-119587520

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.414C>T; p.I138I; 3:119586400-119586400

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.821C>T; p.A274V; 3:119587625-119587625

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.479G>A; p.R160Q; 3:119586465-119586465

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4G>T; p.E2*; 3:119582173-119582173

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.579A>G; p.K193K; 3:119586565-119586565

 thyroidcarcinomaSubstitution - coding silent

c.853G>A; p.A285T; 3:119587657-119587657

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.599C>A; p.P200Q; 3:119586585-119586585

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.696A>T; p.K232N; 3:119587500-119587500

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1017G>A; p.E339E; 3:119587821-119587821

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1043G>A; p.G348E; 3:119587847-119587847

 breastcarcinomaSubstitution - Missense

c.389G>A; p.G130E; 3:119586375-119586375

 central_nervous_system; braingliomaSubstitution - Missense

c.944G>T; p.G315V; 3:119587748-119587748

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.30G>T; p.L10L; 3:119582199-119582199

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1068C>T; p.S356S; 3:119587872-119587872

 skinmalignant_melanomaSubstitution - coding silent

c.289C>T; p.R97W; 3:119582458-119582458

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.771C>A; p.F257L; 3:119587575-119587575

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.916A>G; p.T306A; 3:119587720-119587720

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.140A>T; p.D47V; 3:119582309-119582309

 breastcarcinomaSubstitution - Missense

c.400C>T; p.R134W; 3:119586386-119586386

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.71G>A; p.W24*; 3:119582240-119582240

 skinmalignant_melanomaSubstitution - Nonsense

c.532T>G; p.F178V; 3:119586518-119586518

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.546T>A; p.A182A; 3:119586532-119586532

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.546T>A; p.A182A; 3:119586532-119586532

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.113C>T; p.A38V; 3:119582282-119582282

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.218C>A; p.A73D; 3:119582387-119582387

 breastcarcinomaSubstitution - Missense

c.1006C>T; p.R336W; 3:119587810-119587810

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.166G>T; p.D56Y; 3:119582335-119582335

 pancreascarcinomaSubstitution - Missense

c.695A>G; p.K232R; 3:119587499-119587499

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.510delG; p.A172fs*12; 3:119586496-119586496

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.336G>A; p.P112P; 3:119586322-119586322

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.259T>G; p.Y87D; 3:119582428-119582428

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.76T>C; p.F26L; 3:119582245-119582245

 skin; anklemalignant_melanoma; acral_lentiginousSubstitution - Missense

c.625T>G; p.S209A; 3:119586611-119586611

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.649C>G; p.L217V; 3:119586635-119586635

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.415G>A; p.G139S; 3:119586401-119586401

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.78C>T; p.F26F; 3:119582247-119582247

 skinmalignant_melanomaSubstitution - coding silent

c.762G>A; p.R254R; 3:119587566-119587566

 skinmalignant_melanomaSubstitution - coding silent

c.78C>T; p.F26F; 3:119582247-119582247

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.895C>T; p.H299Y; 3:119587699-119587699

 skinmalignant_melanomaSubstitution - Missense

c.401G>A; p.R134Q; 3:119586387-119586387

 prostateadenomaSubstitution - Missense

c.757G>T; p.E253*; 3:119587561-119587561

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.115C>T; p.Q39*; 3:119582284-119582284

 kidneyother; neoplasmSubstitution - Nonsense

c.936C>A; p.C312*; 3:119587740-119587740

 breastcarcinomaSubstitution - Nonsense

c.884G>T; p.R295L; 3:119587688-119587688

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.884G>T; p.R295L; 3:119587688-119587688

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.842C>A; p.A281D; 3:119587646-119587646

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.653A>C; p.Q218P; 3:119586639-119586639

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.530T>A; p.L177H; 3:119586516-119586516

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.481A>G; p.M161V; 3:119586467-119586467

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.526G>T; p.A176S; 3:119586512-119586512

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.631T>A; p.Y211N; 3:119586617-119586617

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.577A>T; p.K193*; 3:119586563-119586563

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.427C>A; p.P143T; 3:119586413-119586413

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.438C>T; p.S146S; 3:119586424-119586424

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1054G>C; p.D352H; 3:119587858-119587858

 breastcarcinomaSubstitution - Missense

c.1029T>G; p.A343A; 3:119587833-119587833

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

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