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

Basic Information

Gene ID

84417

Name

C2orf40

Synonymous

chromosome 2 open reading frame 40;C2orf40;chromosome 2 open reading frame 40

Definition

augurin|esophageal cancer related gene 4 protein|esophageal cancer-related gene 4 protein

Position

2q12.2

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 0.11.

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.168T>C; p.N56N; 2:106073926-106073926

 pancreascarcinomaSubstitution - coding silent

c.168T>C; p.N56N; 2:106073926-106073926

 pancreascarcinomaSubstitution - coding silent

c.271G>A; p.G91S; 2:106074029-106074029

 skinmalignant_melanomaSubstitution - Missense

c.168T>C; p.N56N; 2:106073926-106073926

 pancreascarcinomaSubstitution - coding silent

c.235G>A; p.E79K; 2:106073993-106073993

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.328A>C; p.N110H; 2:106077807-106077807

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.178G>T; p.E60*; 2:106073936-106073936

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.178G>T; p.E60*; 2:106073936-106073936

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.184C>T; p.L62F; 2:106073942-106073942

 skinmalignant_melanomaSubstitution - Missense

c.74G>A; p.G25D; 2:106065838-106065838

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.134T>C; p.V45A; 2:106073892-106073892

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.392C>A; p.P131H; 2:106077871-106077871

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.224G>A; p.R75Q; 2:106073982-106073982

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.127+2T>C; p.?; 2:106071893-106071893

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.157G>A; p.V53I; 2:106073915-106073915

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.183C>T; p.F61F; 2:106073941-106073941

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.183C>T; p.F61F; 2:106073941-106073941

 skinmalignant_melanomaSubstitution - coding silent

c.15C>G; p.P5P; 2:106065779-106065779

 thyroidother; neoplasmSubstitution - coding silent

c.15C>G; p.P5P; 2:106065779-106065779

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.194T>C; p.L65P; 2:106073952-106073952

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.209G>A; p.R70Q; 2:106073967-106073967

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.209G>A; p.R70Q; 2:106073967-106073967

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.91G>A; p.G31R; 2:106071855-106071855

 skinmalignant_melanomaSubstitution - Missense

c.280G>A; p.E94K; 2:106074038-106074038

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.358C>T; p.Q120*; 2:106077837-106077837

 skinmalignant_melanomaSubstitution - Nonsense

c.307T>G; p.Y103D; 2:106077786-106077786

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.396G>A; p.R132R; 2:106077875-106077875

 skinmalignant_melanomaSubstitution - coding silent

c.99A>C; p.K33N; 2:106071863-106071863

 breastcarcinomaSubstitution - Missense

c.349G>A; p.D117N; 2:106077828-106077828

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.325C>T; p.R109*; 2:106077804-106077804

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.325C>T; p.R109*; 2:106077804-106077804

 skinmalignant_melanomaSubstitution - Nonsense

c.325C>T; p.R109*; 2:106077804-106077804

 skinmalignant_melanomaSubstitution - Nonsense

c.406G>T; p.G136C; 2:106077885-106077885

 breastcarcinomaSubstitution - Missense

c.301A>T; p.I101F; 2:106077780-106077780

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.210G>T; p.R70R; 2:106073968-106073968

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.226A>G; p.T76A; 2:106073984-106073984

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.347G>A; p.G116D; 2:106077826-106077826

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.6T>C; p.A2A; 2:106065770-106065770

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.6T>C; p.A2A; 2:106065770-106065770

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.6T>C; p.A2A; 2:106065770-106065770

 thyroidother; neoplasmSubstitution - coding silent

c.6T>C; p.A2A; 2:106065770-106065770

 thyroidother; neoplasmSubstitution - coding silent

c.407G>A; p.G136D; 2:106077886-106077886

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.199C>T; p.R67C; 2:106073957-106073957

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.269T>C; p.M90T; 2:106074027-106074027

 livercarcinomaSubstitution - Missense

c.269T>C; p.M90T; 2:106074027-106074027

 livercarcinomaSubstitution - Missense

c.234C>G; p.P78P; 2:106073992-106073992

 central_nervous_system; braingliomaSubstitution - coding silent

c.50C>T; p.A17V; 2:106065814-106065814

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.376G>T; p.D126Y; 2:106077855-106077855

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.436G>A; p.D146N; 2:106077915-106077915

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.156C>A; p.A52A; 2:106073914-106073914

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.326G>A; p.R109Q; 2:106077805-106077805

 skinmalignant_melanomaSubstitution - Missense

c.285G>A; p.A95A; 2:106074043-106074043

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.285G>A; p.A95A; 2:106074043-106074043

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.285G>A; p.A95A; 2:106074043-106074043

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.184C>A; p.L62I; 2:106073942-106073942

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.117A>C; p.Q39H; 2:106071881-106071881

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

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