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

Basic Information

Gene ID

1452

Name

CSNK1A1

Synonymous

casein kinase 1, alpha 1;CSNK1A1;casein kinase 1, alpha 1

Definition

CKI-alpha|casein kinase I isoform alpha|clock regulator kinase|down-regulated in lung cancer|epididymis secretory sperm binding protein Li 77p

Position

5q32

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 0.18.

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.183C>A; p.S61R; 5:149550122-149550122

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.292G>A; p.E98K; 5:149525110-149525110

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.844C>T; p.R282C; 5:149507040-149507040

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.72G>C; p.G24G; 5:149550893-149550893

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.618A>G; p.S206S; 5:149511851-149511851

 skinmalignant_melanomaSubstitution - coding silent

c.968C>A; p.T323K; 5:149505485-149505485

 meningesmeningioma; secretorySubstitution - Missense

c.418G>C; p.D140H; 5:149520328-149520328

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.845G>A; p.R282H; 5:149507039-149507039

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.121G>T; p.E41*; 5:149550844-149550844

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.293A>G; p.E98G; 5:149525109-149525109

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; Burkitt_lymphomaSubstitution - Missense

c.820T>C; p.Y274H; 5:149507064-149507064

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.406G>T; p.D136Y; 5:149520340-149520340

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.287G>T; p.S96I; 5:149525115-149525115

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.419A>C; p.D140A; 5:149520327-149520327

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasmSubstitution - Missense

c.419A>C; p.D140A; 5:149520327-149520327

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; mast_cell_neoplasmSubstitution - Missense

c.419A>C; p.D140A; 5:149520327-149520327

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.419A>C; p.D140A; 5:149520327-149520327

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.633G>A; p.L211L; 5:149511836-149511836

 livercarcinomaSubstitution - coding silent

c.250G>A; p.D84N; 5:149525152-149525152

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.456+2T>C; p.?; 5:149520288-149520288

 kidneycarcinoma; clear_cell_renal_cell_carcinomaUnknown

c.28G>T; p.E10*; 5:149550937-149550937

 breastcarcinomaSubstitution - Nonsense

c.28G>T; p.E10*; 5:149550937-149550937

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.810A>C; p.E270D; 5:149507074-149507074

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.407A>G; p.D136G; 5:149520339-149520339

 livercarcinomaSubstitution - Missense

c.140T>C; p.L47P; 5:149550165-149550165

 skinmalignant_melanomaSubstitution - Missense

c.260T>C; p.V87A; 5:149525142-149525142

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.231-2A>T; p.?; 5:149525173-149525173

 kidneycarcinoma; clear_cell_renal_cell_carcinomaUnknown

c.601C>T; p.R201*; 5:149511868-149511868

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.601C>T; p.R201*; 5:149511868-149511868

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.62G>T; p.R21L; 5:149550903-149550903

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.947delG; p.G316fs*19; 5:149505506-149505506

 bone; humeruschondrosarcomaDeletion - Frameshift

c.846C>T; p.R282R; 5:149507038-149507038

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.216C>T; p.G72G; 5:149550089-149550089

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.780_781insTTA; p.L260_N261insL; 5:149507103-149507104

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaInsertion - In frame

c.554C>T; p.A185V; 5:149513112-149513112

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.554C>T; p.A185V; 5:149513112-149513112

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.554C>T; p.A185V; 5:149513112-149513112

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.554C>T; p.A185V; 5:149513112-149513112

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.436A>G; p.I146V; 5:149520310-149520310

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.436A>G; p.I146V; 5:149520310-149520310

 livercarcinomaSubstitution - Missense

c.121G>A; p.E41K; 5:149550844-149550844

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.725C>G; p.S242C; 5:149509904-149509904

 breastcarcinomaSubstitution - Missense

c.958C>G; p.Q320E; 5:149505495-149505495

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.930C>G; p.A310A; 5:149505523-149505523

 breastcarcinomaSubstitution - coding silent

c.623G>A; p.G208E; 5:149511846-149511846

 skinmalignant_melanomaSubstitution - Missense

c.739G>T; p.V247F; 5:149509890-149509890

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.222C>A; p.P74P; 5:149550083-149550083

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.178G>A; p.E60K; 5:149550127-149550127

 breastcarcinomaSubstitution - Missense

c.138G>A; p.K46K; 5:149550167-149550167

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.875A>G; p.Y292C; 5:149505578-149505578

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.157A>T; p.R53W; 5:149550148-149550148

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.236A>G; p.Y79C; 5:149525166-149525166

 livercarcinomaSubstitution - Missense

c.236A>G; p.Y79C; 5:149525166-149525166

 livercarcinomaSubstitution - Missense

c.88G>T; p.D30Y; 5:149550877-149550877

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.88G>T; p.D30Y; 5:149550877-149550877

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.561T>A; p.Y187*; 5:149513105-149513105

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; plasma_cell_myelomaSubstitution - Nonsense

c.770C>T; p.A257V; 5:149507114-149507114

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.770C>T; p.A257V; 5:149507114-149507114

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.670C>T; p.L224L; 5:149511799-149511799

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

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