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

Basic Information

Gene ID

1801

Name

DPH1

Synonymous

diphthamide biosynthesis 1;DPH1;diphthamide biosynthesis 1

Definition

DPH-like 1|DPH1 homolog|DPH2-like 1|candidate tumor suppressor in ovarian cancer 1|diphthamide biosynthesis protein 1|diphthamide biosynthesis protein 2 homolog-like 1|diptheria toxin resistance protein required for diphthamide biosynthesis (Saccharomyces

Position

17p13.3

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

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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 0.05.

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.935G>A; p.R312Q; 17:2040518-2040518

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.895C>T; p.R299C; 17:2040348-2040348

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.504C>T; p.L168L; 17:2036617-2036617

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1106C>T; p.A369V; 17:2041485-2041485

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.827_851del25; p.R277fs*37; 17:2040280-2040304

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.134C>A; p.P45H; 17:2033562-2033562

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.728C>T; p.S243F; 17:2039787-2039787

 skin; anklemalignant_melanoma; acral_lentiginousSubstitution - Missense

c.1272G>A; p.S424S; 17:2041797-2041797

 livercarcinomaSubstitution - coding silent

c.1272G>A; p.S424S; 17:2041797-2041797

 livercarcinomaSubstitution - coding silent

c.391G>A; p.V131M; 17:2036067-2036067

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.949_950GG>AC; p.G317T; 17:2040532-2040533

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.712C>A; p.R238S; 17:2039771-2039771

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.487C>G; p.H163D; 17:2036600-2036600

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.564G>A; p.S188S; 17:2036677-2036677

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.111C>T; p.I37I; 17:2033539-2033539

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.167C>T; p.S56F; 17:2033595-2033595

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.661T>C; p.S221P; 17:2036922-2036922

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.300G>A; p.T100T; 17:2035976-2035976

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.14T>C; p.V5A; 17:2030168-2030168

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.537C>T; p.A179A; 17:2036650-2036650

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.506G>A; p.R169H; 17:2036619-2036619

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.756C>T; p.P252P; 17:2039815-2039815

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.523G>A; p.A175T; 17:2036636-2036636

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.896G>A; p.R299H; 17:2040349-2040349

 thyroidcarcinomaSubstitution - Missense

c.445C>T; p.R149W; 17:2036558-2036558

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.287delT; p.L96fs*9; 17:2033836-2033836

 lungcarcinoma; adenocarcinomaDeletion - Frameshift

c.490C>A; p.L164I; 17:2036603-2036603

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.261C>T; p.L87L; 17:2033810-2033810

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.934C>T; p.R312*; 17:2040517-2040517

 skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.35C>T; p.S12F; 17:2030189-2030189

 pancreasNSSubstitution - Missense

c.747C>T; p.P249P; 17:2039806-2039806

 skinmalignant_melanomaSubstitution - coding silent

c.1186G>A; p.V396M; 17:2041565-2041565

 thyroidcarcinomaSubstitution - Missense

c.449T>G; p.V150G; 17:2036562-2036562

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.677A>G; p.K226R; 17:2036938-2036938

 breastcarcinomaSubstitution - Missense

c.348T>C; p.C116C; 17:2036024-2036024

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.94C>T; p.R32C; 17:2033522-2033522

 skinmalignant_melanomaSubstitution - Missense

c.307G>A; p.E103K; 17:2035983-2035983

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1230C>G; p.P410P; 17:2041609-2041609

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.456C>T; p.Y152Y; 17:2036569-2036569

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.216C>A; p.A72A; 17:2033644-2033644

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.144G>T; p.Q48H; 17:2033572-2033572

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.791C>T; p.S264F; 17:2040244-2040244

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.757G>A; p.A253T; 17:2039816-2039816

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.757G>A; p.A253T; 17:2039816-2039816

 pancreascarcinomaSubstitution - Missense

c.957C>T; p.S319S; 17:2040540-2040540

 skinmalignant_melanomaSubstitution - coding silent

c.866C>T; p.S289F; 17:2040319-2040319

 skinmalignant_melanomaSubstitution - Missense

c.763C>T; p.R255W; 17:2039822-2039822

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.77G>A; p.G26D; 17:2033505-2033505

 skin; extremitymalignant_melanomaSubstitution - Missense

c.44C>T; p.A15V; 17:2030198-2030198

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.508C>T; p.L170F; 17:2036621-2036621

 skinmalignant_melanomaSubstitution - Missense

c.349G>T; p.V117L; 17:2036025-2036025

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1205G>A; p.R402H; 17:2041584-2041584

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.126G>A; p.L42L; 17:2033554-2033554

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.204G>T; p.R68S; 17:2033632-2033632

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.351G>T; p.V117V; 17:2036027-2036027

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.79C>T; p.R27W; 17:2033507-2033507

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.1100A>G; p.E367G; 17:2041180-2041180

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1100A>G; p.E367G; 17:2041180-2041180

 large_intestine; coloncarcinomaSubstitution - Missense

c.79C>T; p.R27W; 17:2033507-2033507

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

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