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

Basic Information

Gene ID

51201

Name

ZDHHC2

Synonymous

zinc finger, DHHC-type containing 2;ZDHHC2;zinc finger, DHHC-type containing 2

Definition

DHHC-2|palmitoyltransferase ZDHHC2|ream|rec|reduced expression associated with metastasis protein|reduced expression in cancer protein|zinc finger DHHC domain-containing protein 2|zinc finger protein 372|zinc finger, DHHC domain containing 2

Position

8p22

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 0.05.

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.328C>T; p.R110*; 8:17195579-17195579

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.380G>A; p.R127Q; 8:17197588-17197588

 skinmalignant_melanomaSubstitution - Missense

c.805C>T; p.R269*; 8:17210006-17210006

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.466C>T; p.H156Y; 8:17198403-17198403

 skinmalignant_melanomaSubstitution - Missense

c.764C>T; p.T255I; 8:17209965-17209965

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.139G>A; p.E47K; 8:17184797-17184797

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1053A>G; p.K351K; 8:17215339-17215339

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1053A>G; p.K351K; 8:17215339-17215339

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.941C>A; p.T314K; 8:17210471-17210471

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.576G>A; p.Q192Q; 8:17205754-17205754

 breastcarcinomaSubstitution - coding silent

c.227C>T; p.T76I; 8:17186400-17186400

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.500C>T; p.S167L; 8:17205678-17205678

 skinmalignant_melanomaSubstitution - Missense

c.364A>G; p.M122V; 8:17195615-17195615

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.5C>T; p.A2V; 8:17156728-17156728

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.315G>A; p.Q105Q; 8:17195566-17195566

 skinmalignant_melanomaSubstitution - coding silent

c.812delT; p.F272fs*16; 8:17210013-17210013

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.970C>T; p.P324S; 8:17215256-17215256

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.970C>T; p.P324S; 8:17215256-17215256

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.415C>T; p.R139C; 8:17197623-17197623

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.730+10C>T; p.?; 8:17208102-17208102

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.432C>T; p.S144S; 8:17197640-17197640

 skinmalignant_melanomaSubstitution - coding silent

c.460G>T; p.D154Y; 8:17198397-17198397

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.904C>T; p.P302S; 8:17210434-17210434

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.978G>A; p.K326K; 8:17215264-17215264

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.339G>A; p.K113K; 8:17195590-17195590

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.828G>A; p.K276K; 8:17210029-17210029

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.618A>C; p.Q206H; 8:17207980-17207980

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.710G>T; p.S237I; 8:17208072-17208072

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.519C>A; p.L173L; 8:17205697-17205697

 skinmalignant_melanomaSubstitution - coding silent

c.880C>T; p.P294S; 8:17210410-17210410

 skinmalignant_melanomaSubstitution - Missense

c.806G>A; p.R269Q; 8:17210007-17210007

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.809A>C; p.Q270P; 8:17210010-17210010

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.585C>T; p.I195I; 8:17205763-17205763

 skinmalignant_melanomaSubstitution - coding silent

c.907G>A; p.E303K; 8:17210437-17210437

 breastcarcinomaSubstitution - Missense

c.498T>G; p.F166L; 8:17205676-17205676

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.368C>G; p.S123C; 8:17195619-17195619

 skinmalignant_melanomaSubstitution - Missense

c.417C>A; p.R139R; 8:17197625-17197625

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.951-2A>G; p.?; 8:17215235-17215235

 large_intestine; caecumcarcinoma; adenocarcinomaUnknown

c.331G>A; p.A111T; 8:17195582-17195582

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.50T>G; p.V17G; 8:17156773-17156773

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.50T>G; p.V17G; 8:17156773-17156773

 thyroidother; neoplasmSubstitution - Missense

c.50T>G; p.V17G; 8:17156773-17156773

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.50T>G; p.V17G; 8:17156773-17156773

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.50T>G; p.V17G; 8:17156773-17156773

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.754C>T; p.R252*; 8:17209955-17209955

 skinmalignant_melanomaSubstitution - Nonsense

c.857+7C>T; p.?; 8:17210065-17210065

 stomachcarcinoma; adenocarcinomaUnknown

c.754C>T; p.R252*; 8:17209955-17209955

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.724A>T; p.T242S; 8:17208086-17208086

 livercarcinomaSubstitution - Missense

c.255C>T; p.F85F; 8:17195506-17195506

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.602G>A; p.G201D; 8:17207964-17207964

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.861A>G; p.L287L; 8:17210391-17210391

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1028C>T; p.T343M; 8:17215314-17215314

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.493G>A; p.G165R; 8:17205671-17205671

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1023T>C; p.S341S; 8:17215309-17215309

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.911A>G; p.Q304R; 8:17210441-17210441

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.513C>A; p.F171L; 8:17205691-17205691

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.513C>A; p.F171L; 8:17205691-17205691

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.513C>A; p.F171L; 8:17205691-17205691

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.591T>G; p.F197L; 8:17205769-17205769

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.463C>T; p.H155Y; 8:17198400-17198400

 skinmalignant_melanomaSubstitution - Missense

c.463C>T; p.H155Y; 8:17198400-17198400

 skinmalignant_melanomaSubstitution - Missense

c.766G>T; p.D256Y; 8:17209967-17209967

 pancreascarcinomaSubstitution - Missense

c.766G>T; p.D256Y; 8:17209967-17209967

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.536C>T; p.S179F; 8:17205714-17205714

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.371G>A; p.G124E; 8:17195622-17195622

 skinmalignant_melanomaSubstitution - Missense

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