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

Basic Information

Gene ID

50514

Name

DEC1

Synonymous

deleted in esophageal cancer 1;DEC1;deleted in esophageal cancer 1

Definition

candidate tumor suppressor CTS9

Position

9q32

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 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.32G>A; p.W11*; 9:115400377-115400377

skinmalignant_melanomaSubstitution - Nonsense

c.79C>T; p.H27Y; 9:115400424-115400424

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaSubstitution - Missense

c.194C>A; p.A65E; 9:115401299-115401299

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.109A>G; p.R37G; 9:115401214-115401214

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.212G>C; p.*71S; 9:115402124-115402124

breastcarcinomaNonstop extension

c.183G>A; p.R61R; 9:115401288-115401288

skinmalignant_melanomaSubstitution - coding silent

c.67C>G; p.L23V; 9:115400412-115400412

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.63C>A; p.G21G; 9:115400408-115400408

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.195A>G; p.A65A; 9:115401300-115401300

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.46C>A; p.P16T; 9:115400391-115400391

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.84G>A; p.M28I; 9:115400429-115400429

skinmalignant_melanomaSubstitution - Missense

c.182_183GG>AT; p.R61>?; 9:115401287-115401288

lungcarcinoma; adenocarcinomaComplex

c.212G>A; p.*71*; 9:115402124-115402124

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent


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