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

Basic Information

Gene ID

3880

Name

KRT19

Synonymous

keratin 19, type I;KRT19;keratin 19, type I

Definition

40-kDa keratin intermediate filament|CK-19|cytokeratin 19|cytokeratin-19|keratin, type I cytoskeletal 19|keratin, type I, 40-kd|keratin-19

Position

17q21.2

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 0.22.

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.345G>A; p.W115*; 17:41527903-41527903

 skinmalignant_melanomaSubstitution - Nonsense

c.1000C>T; p.Q334*; 17:41523946-41523946

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.1106T>C; p.I369T; 17:41523840-41523840

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1063G>A; p.D355N; 17:41523883-41523883

 breastcarcinomaSubstitution - Missense

c.780C>T; p.A260A; 17:41524421-41524421

 skinmalignant_melanomaSubstitution - coding silent

c.1153G>A; p.E385K; 17:41523793-41523793

 skinmalignant_melanomaSubstitution - Missense

c.1122G>T; p.E374D; 17:41523824-41523824

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.423_424TC>TA; p.I141>?; 17:41525270-41525271

 lungcarcinoma; adenocarcinomaComplex

c.902G>A; p.R301H; 17:41524189-41524189

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.180delC; p.Y61fs*9; 17:41528068-41528068

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.180delC; p.Y61fs*9; 17:41528068-41528068

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.180delC; p.Y61fs*9; 17:41528068-41528068

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.497G>A; p.R166Q; 17:41525197-41525197

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.182A>G; p.Y61C; 17:41528066-41528066

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.497G>A; p.R166Q; 17:41525197-41525197

 breastcarcinomaSubstitution - Missense

c.266A>T; p.D89V; 17:41527982-41527982

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.609G>T; p.Q203H; 17:41524894-41524894

 livercarcinomaSubstitution - Missense

c.609G>T; p.Q203H; 17:41524894-41524894

 livercarcinomaSubstitution - Missense

c.1143C>T; p.R381R; 17:41523803-41523803

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.512C>T; p.T171M; 17:41524991-41524991

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.512C>T; p.T171M; 17:41524991-41524991

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.512C>T; p.T171M; 17:41524991-41524991

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.11A>T; p.Y4F; 17:41528237-41528237

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.552C>T; p.N184N; 17:41524951-41524951

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.11A>T; p.Y4F; 17:41528237-41528237

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.744C>T; p.I248I; 17:41524457-41524457

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.179C>G; p.A60G; 17:41528069-41528069

 thyroidother; neoplasmSubstitution - Missense

c.319G>T; p.E107*; 17:41527929-41527929

 breastcarcinomaSubstitution - Nonsense

c.179C>G; p.A60G; 17:41528069-41528069

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.179C>G; p.A60G; 17:41528069-41528069

 thyroidother; neoplasmSubstitution - Missense

c.573T>C; p.D191D; 17:41524930-41524930

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.355C>A; p.Q119K; 17:41527893-41527893

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.148G>T; p.A50S; 17:41528100-41528100

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.964G>C; p.D322H; 17:41523982-41523982

 breastcarcinomaSubstitution - Missense

c.582_612del31; p.L195fs*3; 17:41524891-41524921

 breastcarcinomaDeletion - Frameshift

c.729C>T; p.T243T; 17:41524472-41524472

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.180_191del12; p.G64_G67delGYGG; 17:41528057-41528068

 lungcarcinoma; adenocarcinomaDeletion - In frame

c.63C>T; p.G21G; 17:41528185-41528185

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.379T>C; p.Y127H; 17:41527869-41527869

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.379T>C; p.Y127H; 17:41527869-41527869

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.771G>A; p.E257E; 17:41524430-41524430

 skinmalignant_melanomaSubstitution - coding silent

c.1103A>T; p.D368V; 17:41523843-41523843

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.380A>C; p.Y127S; 17:41527868-41527868

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.380A>C; p.Y127S; 17:41527868-41527868

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1134_1135insC; p.T379fs*>23; 17:41523811-41523812

 lungcarcinoma; adenocarcinomaInsertion - Frameshift

c.153C>A; p.R51R; 17:41528095-41528095

 prostatecarcinomaSubstitution - coding silent

c.650A>T; p.N217I; 17:41524853-41524853

 prostatecarcinomaSubstitution - Missense

c.495C>T; p.F165F; 17:41525199-41525199

 skinmalignant_melanomaSubstitution - coding silent

c.752A>G; p.D251G; 17:41524449-41524449

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.797A>T; p.D266V; 17:41524404-41524404

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; plasma_cell_myelomaSubstitution - Missense

c.1066A>G; p.S356G; 17:41523880-41523880

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.980C>G; p.T327R; 17:41523966-41523966

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.689G>A; p.G230E; 17:41524512-41524512

 skinmalignant_melanomaSubstitution - Missense

c.736G>A; p.A246T; 17:41524465-41524465

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.736G>A; p.A246T; 17:41524465-41524465

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.784C>T; p.Q262*; 17:41524417-41524417

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.730G>A; p.D244N; 17:41524471-41524471

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.730G>A; p.D244N; 17:41524471-41524471

 livercarcinomaSubstitution - Missense

c.730G>A; p.D244N; 17:41524471-41524471

 livercarcinomaSubstitution - Missense

c.1121A>G; p.E374G; 17:41523825-41523825

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.913_914GG>AA; p.G305N; 17:41524177-41524178

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.757C>T; p.R253*; 17:41524444-41524444

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.612_613insC; p.E205fs*15; 17:41524890-41524891

 breastcarcinomaInsertion - Frameshift

c.1015C>T; p.Q339*; 17:41523931-41523931

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.556C>A; p.L186M; 17:41524947-41524947

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.377A>C; p.D126A; 17:41527871-41527871

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.87C>T; p.V29V; 17:41528161-41528161

 skinmalignant_melanomaSubstitution - coding silent

c.677G>T; p.R226M; 17:41524524-41524524

 central_nervous_system; brainatypical_teratoid-rhabdoid_tumourSubstitution - Missense

c.70C>G; p.R24G; 17:41528178-41528178

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.721C>A; p.P241T; 17:41524480-41524480

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.276C>T; p.A92A; 17:41527972-41527972

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.968C>A; p.T323K; 17:41523978-41523978

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.90C>T; p.A30A; 17:41528158-41528158

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.90C>T; p.A30A; 17:41528158-41528158

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.90C>T; p.A30A; 17:41528158-41528158

 thyroidother; neoplasmSubstitution - coding silent

c.90C>T; p.A30A; 17:41528158-41528158

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.90C>T; p.A30A; 17:41528158-41528158

 breastcarcinomaSubstitution - coding silent

c.90C>T; p.A30A; 17:41528158-41528158

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.90C>T; p.A30A; 17:41528158-41528158

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.90C>T; p.A30A; 17:41528158-41528158

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.90C>T; p.A30A; 17:41528158-41528158

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.90C>T; p.A30A; 17:41528158-41528158

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.90C>T; p.A30A; 17:41528158-41528158

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.90C>T; p.A30A; 17:41528158-41528158

 large_intestine; rectumNSSubstitution - coding silent

c.90C>T; p.A30A; 17:41528158-41528158

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.588C>G; p.A196A; 17:41524915-41524915

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1109A>G; p.K370R; 17:41523837-41523837

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1073G>A; p.R358Q; 17:41523873-41523873

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1073G>A; p.R358Q; 17:41523873-41523873

 breastcarcinomaSubstitution - Missense

c.894C>A; p.D298E; 17:41524197-41524197

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1105A>G; p.I369V; 17:41523841-41523841

 pancreascarcinomaSubstitution - Missense

c.216C>T; p.S72S; 17:41528032-41528032

 skinmalignant_melanomaSubstitution - coding silent

c.1198C>T; p.L400F; 17:41523748-41523748

 skinmalignant_melanomaSubstitution - Missense

c.735C>T; p.L245L; 17:41524466-41524466

 breastcarcinomaSubstitution - coding silent

c.178G>T; p.A60S; 17:41528070-41528070

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

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