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

Basic Information

Gene ID

1264

Name

CNN1

Synonymous

calponin 1, basic, smooth muscle;CNN1;calponin 1, basic, smooth muscle

Definition

basic calponin|calponin H1, smooth muscle|calponin-1|calponins, basic|epididymis secretory protein Li 14

Position

19p13.2-p13.1

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

Top

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

Top

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

Top

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.465G>A; p.G155G; 19:11547871-11547871

 skinmalignant_melanomaSubstitution - coding silent

c.139G>A; p.G47S; 19:11541151-11541151

 skinmalignant_melanomaSubstitution - Missense

c.273C>T; p.F91F; 19:11546852-11546852

 skinmalignant_melanomaSubstitution - coding silent

c.166G>T; p.D56Y; 19:11541178-11541178

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.309C>T; p.H103H; 19:11546888-11546888

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.155A>G; p.D52G; 19:11541167-11541167

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.743G>A; p.G248D; 19:11549644-11549644

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.189C>T; p.F63F; 19:11546678-11546678

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.392C>T; p.A131V; 19:11547798-11547798

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.713G>A; p.C238Y; 19:11549614-11549614

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.132T>C; p.R44R; 19:11541144-11541144

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.375G>C; p.L125L; 19:11546954-11546954

 pancreascarcinomaSubstitution - coding silent

c.663G>A; p.A221A; 19:11549564-11549564

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.714C>T; p.C238C; 19:11549615-11549615

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.91G>A; p.E31K; 19:11541103-11541103

 skinmalignant_melanomaSubstitution - Missense

c.781T>G; p.Y261D; 19:11549682-11549682

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.114C>T; p.I38I; 19:11541126-11541126

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.434C>T; p.A145V; 19:11547840-11547840

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.249C>A; p.H83Q; 19:11546738-11546738

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.720G>A; p.T240T; 19:11549621-11549621

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.456C>T; p.F152F; 19:11547862-11547862

 breastcarcinomaSubstitution - coding silent

c.525C>T; p.S175S; 19:11549346-11549346

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.605C>T; p.A202V; 19:11549426-11549426

 large_intestine; rectumNSSubstitution - Missense

c.801C>T; p.V267V; 19:11549702-11549702

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.10G>A; p.A4T; 19:11538937-11538937

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.391G>T; p.A131S; 19:11547797-11547797

 breastcarcinomaSubstitution - Missense

c.457G>A; p.E153K; 19:11547863-11547863

 skinmalignant_melanomaSubstitution - Missense

c.804C>T; p.Y268Y; 19:11549705-11549705

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.804C>T; p.Y268Y; 19:11549705-11549705

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.553C>T; p.R185W; 19:11549374-11549374

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.362A>G; p.Q121R; 19:11546941-11546941

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.867C>T; p.H289H; 19:11549768-11549768

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.868G>A; p.A290T; 19:11549769-11549769

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.852C>T; p.P284P; 19:11549753-11549753

 central_nervous_system; braingliomaSubstitution - coding silent

c.812A>C; p.K271T; 19:11549713-11549713

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.22C>A; p.R8R; 19:11538949-11538949

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.759C>T; p.A253A; 19:11549660-11549660

 livercarcinomaSubstitution - coding silent

c.759C>T; p.A253A; 19:11549660-11549660

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.811A>G; p.K271E; 19:11549712-11549712

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.771C>A; p.G257G; 19:11549672-11549672

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.276C>G; p.I92M; 19:11546855-11546855

 breastcarcinomaSubstitution - Missense

c.761C>T; p.S254L; 19:11549662-11549662

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.296G>A; p.G99E; 19:11546875-11546875

 skinmalignant_melanomaSubstitution - Missense

c.418G>T; p.V140L; 19:11547824-11547824

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.310G>A; p.D104N; 19:11546889-11546889

 skinmalignant_melanomaSubstitution - Missense

c.310G>A; p.D104N; 19:11546889-11546889

 skinmalignant_melanomaSubstitution - Missense

c.88C>T; p.R30W; 19:11541100-11541100

 livercarcinomaSubstitution - Missense

c.88C>T; p.R30W; 19:11541100-11541100

 livercarcinomaSubstitution - Missense

c.398C>T; p.T133M; 19:11547804-11547804

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.481C>T; p.R161W; 19:11547887-11547887

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.889G>A; p.A297T; 19:11549790-11549790

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.130C>T; p.R44C; 19:11541142-11541142

 skinmalignant_melanomaSubstitution - Missense

c.130C>T; p.R44C; 19:11541142-11541142

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.505G>A; p.G169S; 19:11549326-11549326

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.475G>A; p.E159K; 19:11547881-11547881

 skinmalignant_melanomaSubstitution - Missense

c.660T>A; p.T220T; 19:11549561-11549561

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.393G>A; p.A131A; 19:11547799-11547799

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.793C>T; p.R265C; 19:11549694-11549694

 haematopoietic_and_lymphoid_tissue; central_nervous_systemlymphoid_neoplasm; primary_central_nervous_system_lymphomaSubstitution - Missense

c.747C>T; p.S249S; 19:11549648-11549648

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.808C>A; p.P270T; 19:11549709-11549709

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.568G>A; p.D190N; 19:11549389-11549389

 skinmalignant_melanomaSubstitution - Missense

c.568G>A; p.D190N; 19:11549389-11549389

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.849G>T; p.E283D; 19:11549750-11549750

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.371T>A; p.L124H; 19:11546950-11546950

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.436G>A; p.E146K; 19:11547842-11547842

 skinmalignant_melanomaSubstitution - Missense

c.64-7G>A; p.?; 19:11541069-11541069

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.657G>A; p.M219I; 19:11549558-11549558

 breastcarcinomaSubstitution - Missense

c.662C>T; p.A221V; 19:11549563-11549563

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.122T>G; p.V41G; 19:11541134-11541134

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.554G>A; p.R185Q; 19:11549375-11549375

 livercarcinomaSubstitution - Missense

c.554G>A; p.R185Q; 19:11549375-11549375

 livercarcinomaSubstitution - Missense

c.637G>A; p.G213R; 19:11549458-11549458

 skinmalignant_melanomaSubstitution - Missense

c.637G>A; p.G213R; 19:11549458-11549458

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

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