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

Basic Information

Gene ID

1111

Name

CHEK1

Synonymous

checkpoint kinase 1;CHEK1;checkpoint kinase 1

Definition

CHK1 checkpoint homolog|Checkpoint, S. pombe, homolog of, 1|Chk1-S|cell cycle checkpoint kinase|checkpoint kinase-1|serine/threonine-protein kinase Chk1

Position

11q24.2

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

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

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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 0.15.

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.479G>A; p.R160H; 11:125633217-125633217

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.479G>A; p.R160H; 11:125633217-125633217

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.479G>A; p.R160H; 11:125633217-125633217

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.351G>T; p.G117G; 11:125629293-125629293

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.668A>C; p.E223A; 11:125635483-125635483

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1324C>T; p.R442W; 11:125653836-125653836

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.355G>C; p.V119L; 11:125629391-125629391

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; follicular_lymphomaSubstitution - Missense

c.364C>T; p.H122Y; 11:125629400-125629400

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.96A>C; p.E32D; 11:125627637-125627637

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.703G>T; p.D235Y; 11:125635518-125635518

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.297delC; p.D99fs*2; 11:125629239-125629239

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.717A>G; p.L239L; 11:125635532-125635532

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.424+5G>T; p.?; 11:125629465-125629465

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.41C>A; p.T14N; 11:125626809-125626809

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.388G>T; p.D130Y; 11:125629424-125629424

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1054C>T; p.H352Y; 11:125644221-125644221

 skin; nipplemalignant_melanomaSubstitution - Missense

c.942C>T; p.Y314Y; 11:125644109-125644109

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.851C>T; p.S284L; 11:125643828-125643828

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.675A>G; p.K225K; 11:125635490-125635490

 livercarcinomaSubstitution - coding silent

c.675A>G; p.K225K; 11:125635490-125635490

 livercarcinomaSubstitution - coding silent

c.61G>A; p.G21R; 11:125626829-125626829

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.934G>A; p.V312M; 11:125644101-125644101

 thyroidcarcinomaSubstitution - Missense

c.498G>T; p.K166N; 11:125633236-125633236

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.693_694insA; p.I234fs*11; 11:125635508-125635509

 large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.1006G>A; p.D336N; 11:125644173-125644173

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.121G>A; p.D41N; 11:125627662-125627662

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.887C>T; p.S296F; 11:125643864-125643864

 skinmalignant_melanomaSubstitution - Missense

c.865G>T; p.G289*; 11:125643842-125643842

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.22G>A; p.D8N; 11:125626790-125626790

 breastcarcinomaSubstitution - Missense

c.1091G>T; p.G364V; 11:125644258-125644258

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.703G>A; p.D235N; 11:125635518-125635518

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.423G>T; p.R141S; 11:125629459-125629459

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.958G>A; p.E320K; 11:125644125-125644125

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1390G>T; p.D464Y; 11:125655279-125655279

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.480T>C; p.R160R; 11:125633218-125633218

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.480T>C; p.R160R; 11:125633218-125633218

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1408A>T; p.K470*; 11:125655297-125655297

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.478C>T; p.R160C; 11:125633216-125633216

 skinmalignant_melanomaSubstitution - Missense

c.1315G>C; p.V439L; 11:125653827-125653827

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.2T>C; p.M1T; 11:125626770-125626770

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.400G>A; p.E134K; 11:125629436-125629436

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.745A>C; p.N249H; 11:125637475-125637475

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.187A>C; p.N63H; 11:125627728-125627728

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.187A>C; p.N63H; 11:125627728-125627728

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.187A>C; p.N63H; 11:125627728-125627728

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.959A>G; p.E320G; 11:125644126-125644126

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.993C>T; p.S331S; 11:125644160-125644160

 thyroidcarcinoma; anaplastic_carcinomaSubstitution - coding silent

c.993C>T; p.S331S; 11:125644160-125644160

 thyroidcarcinoma; anaplastic_carcinomaSubstitution - coding silent

c.696A>T; p.K232N; 11:125635511-125635511

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.696A>T; p.K232N; 11:125635511-125635511

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.698A>C; p.K233T; 11:125635513-125635513

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.137T>C; p.V46A; 11:125627678-125627678

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.702C>T; p.I234I; 11:125635517-125635517

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.668delA; p.T226fs*14; 11:125635483-125635483

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.668delA; p.T226fs*14; 11:125635483-125635483

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.668delA; p.T226fs*14; 11:125635483-125635483

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.668delA; p.T226fs*14; 11:125635483-125635483

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.668delA; p.T226fs*14; 11:125635483-125635483

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.667_668insA; p.T226fs*19; 11:125635482-125635483

 large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.1013T>C; p.L338S; 11:125644180-125644180

 oesophaguscarcinomaSubstitution - Missense

c.667_668insA; p.T226fs*19; 11:125635482-125635483

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.505G>A; p.G169S; 11:125633243-125633243

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.466C>T; p.R156W; 11:125633204-125633204

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1082G>A; p.G361D; 11:125644249-125644249

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1078C>T; p.L360F; 11:125644245-125644245

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.430C>T; p.L144F; 11:125633168-125633168

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.432C>A; p.L144L; 11:125633170-125633170

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1204T>C; p.Y402H; 11:125644614-125644614

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1079T>C; p.L360P; 11:125644246-125644246

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.277T>G; p.F93V; 11:125627818-125627818

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.965G>A; p.R322H; 11:125644132-125644132

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1257G>T; p.R419S; 11:125653769-125653769

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1257G>T; p.R419S; 11:125653769-125653769

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.925G>A; p.E309K; 11:125644092-125644092

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1257G>T; p.R419S; 11:125653769-125653769

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

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