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

Basic Information

Gene ID

1474

Name

CST6

Synonymous

cystatin E/M;CST6;cystatin E/M

Definition

cystatin 6|cystatin M|cystatin M/E|cystatin-6|cystatin-E|cystatin-M|cysteine proteinase inhibitor

Position

11q13

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 0.00.

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.279G>A; p.M93I; 11:66012864-66012864

 skinmalignant_melanomaSubstitution - Missense

c.219C>T; p.H73H; 11:66012263-66012263

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.441G>T; p.V147V; 11:66013391-66013391

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.38C>A; p.A13D; 11:66012082-66012082

 biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Missense

c.273G>A; p.M91I; 11:66012858-66012858

 skinmalignant_melanomaSubstitution - Missense

c.314G>T; p.G105V; 11:66012899-66012899

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.241-1G>A; p.?; 11:66012825-66012825

 stomachcarcinoma; adenocarcinomaUnknown

c.406C>T; p.Q136*; 11:66013356-66013356

 thyroidcarcinomaSubstitution - Nonsense

c.446T>A; p.M149K; 11:66013396-66013396

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.152C>T; p.A51V; 11:66012196-66012196

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.62C>T; p.A21V; 11:66012106-66012106

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.444G>A; p.Q148Q; 11:66013394-66013394

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.339delC; p.L115fs*28; 11:66012924-66012924

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.325G>A; p.D109N; 11:66012910-66012910

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.325G>A; p.D109N; 11:66012910-66012910

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.350C>T; p.A117V; 11:66012935-66012935

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.337T>C; p.C113R; 11:66012922-66012922

 skinmalignant_melanomaSubstitution - Missense

c.296G>A; p.R99H; 11:66012881-66012881

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.356C>T; p.A119V; 11:66012941-66012941

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.356C>T; p.A119V; 11:66012941-66012941

 livercarcinomaSubstitution - Missense

c.356C>T; p.A119V; 11:66012941-66012941

 livercarcinomaSubstitution - Missense

c.356C>T; p.A119V; 11:66012941-66012941

 livercarcinomaSubstitution - Missense

c.356C>T; p.A119V; 11:66012941-66012941

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.281G>A; p.G94E; 11:66012866-66012866

 skinmalignant_melanomaSubstitution - Missense

c.130G>T; p.D44Y; 11:66012174-66012174

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.130G>T; p.D44Y; 11:66012174-66012174

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.300G>T; p.K100N; 11:66012885-66012885

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.75C>T; p.D25D; 11:66012119-66012119

 thyroidother; neoplasmSubstitution - coding silent

c.75C>T; p.D25D; 11:66012119-66012119

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.75C>T; p.D25D; 11:66012119-66012119

 breastcarcinomaSubstitution - coding silent

c.75C>T; p.D25D; 11:66012119-66012119

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.75C>T; p.D25D; 11:66012119-66012119

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.75C>T; p.D25D; 11:66012119-66012119

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.373C>T; p.R125C; 11:66013323-66013323

 oesophaguscarcinomaSubstitution - Missense

c.429G>T; p.K143N; 11:66013379-66013379

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.269C>T; p.T90M; 11:66012854-66012854

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.11C>G; p.S4W; 11:66012055-66012055

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.265C>T; p.L89L; 11:66012850-66012850

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.400C>T; p.P134S; 11:66013350-66013350

 skinmalignant_melanomaSubstitution - Missense

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