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

Basic Information

Gene ID

889

Name

KRIT1

Synonymous

KRIT1, ankyrin repeat containing;KRIT1;KRIT1, ankyrin repeat containing

Definition

ankyrin repeat-containing protein Krit1|cerebral cavernous malformations 1 protein|krev interaction trapped 1|krev interaction trapped protein 1

Position

7q21.2

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

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 0.19.

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.1268G>A; p.R423Q; 7:92222965-92222965

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.418C>T; p.R140*; 7:92236480-92236480

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.534C>T; p.F178F; 7:92235598-92235598

 skinmalignant_melanomaSubstitution - coding silent

c.2210G>A; p.*737*; 7:92200737-92200737

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1946G>A; p.S649N; 7:92213274-92213274

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.369C>A; p.Y123*; 7:92236529-92236529

 ovarycarcinoma; serous_carcinomaSubstitution - Nonsense

c.648G>T; p.K216N; 7:92235484-92235484

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.629A>G; p.Y210C; 7:92235503-92235503

 breastcarcinomaSubstitution - Missense

c.804G>T; p.Q268H; 7:92234849-92234849

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1428A>G; p.P476P; 7:92222037-92222037

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.847G>A; p.E283K; 7:92234591-92234591

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.841G>C; p.D281H; 7:92234812-92234812

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.332T>C; p.F111S; 7:92237690-92237690

 skinmalignant_melanomaSubstitution - Missense

c.1294C>T; p.R432C; 7:92222939-92222939

 skinmalignant_melanomaSubstitution - Missense

c.1124T>C; p.L375P; 7:92226548-92226548

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.684T>C; p.C228C; 7:92235448-92235448

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1631A>T; p.Y544F; 7:92214710-92214710

 breastcarcinomaSubstitution - Missense

c.76C>A; p.R26R; 7:92242060-92242060

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.938C>T; p.S313L; 7:92234500-92234500

 skinmalignant_melanomaSubstitution - Missense

c.3G>C; p.M1I; 7:92242133-92242133

 livercarcinomaSubstitution - Missense

c.587C>G; p.A196G; 7:92235545-92235545

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.282G>A; p.M94I; 7:92237740-92237740

 thyroidother; neoplasmSubstitution - Missense

c.309G>C; p.K103N; 7:92237713-92237713

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1867C>T; p.R623C; 7:92213353-92213353

 central_nervous_system; brainstemglioma; astrocytoma_Grade_IISubstitution - Missense

c.74C>T; p.S25F; 7:92242062-92242062

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1867C>T; p.R623C; 7:92213353-92213353

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.544C>G; p.P182A; 7:92235588-92235588

 breastcarcinomaSubstitution - Missense

c.1870A>C; p.M624L; 7:92213350-92213350

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1739A>G; p.N580S; 7:92213971-92213971

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1070C>G; p.S357C; 7:92226602-92226602

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.243T>A; p.P81P; 7:92241012-92241012

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1277G>T; p.R426I; 7:92222956-92222956

 breastcarcinomaSubstitution - Missense

c.2007C>T; p.L669L; 7:92213213-92213213

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.46C>T; p.R16C; 7:92242090-92242090

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.295C>G; p.L99V; 7:92237727-92237727

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2013C>T; p.N671N; 7:92213207-92213207

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1490T>A; p.L497Q; 7:92221975-92221975

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1023A>G; p.L341L; 7:92226649-92226649

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1536G>A; p.V512V; 7:92221929-92221929

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.194C>G; p.T65R; 7:92241061-92241061

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.577C>T; p.P193S; 7:92235555-92235555

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.630T>A; p.Y210*; 7:92235502-92235502

 skinmalignant_melanomaSubstitution - Nonsense

c.77G>A; p.R26Q; 7:92242059-92242059

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.77G>A; p.R26Q; 7:92242059-92242059

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.417G>T; p.M139I; 7:92236481-92236481

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1738A>G; p.N580D; 7:92213972-92213972

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1354C>T; p.R452C; 7:92222879-92222879

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.25G>C; p.D9H; 7:92242111-92242111

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.267A>G; p.K89K; 7:92237755-92237755

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1078C>A; p.H360N; 7:92226594-92226594

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.776A>G; p.D259G; 7:92234877-92234877

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2152G>A; p.V718M; 7:92200795-92200795

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1147-10A>G; p.?; 7:92225837-92225837

 livercarcinomaUnknown

c.1147-10A>G; p.?; 7:92225837-92225837

 livercarcinomaUnknown

c.1949C>A; p.P650H; 7:92213271-92213271

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.715C>T; p.Q239*; 7:92235417-92235417

 skinmalignant_melanomaSubstitution - Nonsense

c.262+1G>A; p.?; 7:92240992-92240992

 prostatecarcinoma; adenocarcinomaUnknown

c.2130A>G; p.V710V; 7:92201319-92201319

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.290T>G; p.F97C; 7:92237732-92237732

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.47G>A; p.R16H; 7:92242089-92242089

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.47G>A; p.R16H; 7:92242089-92242089

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.699G>C; p.L233F; 7:92235433-92235433

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.739G>A; p.V247M; 7:92234914-92234914

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.847G>T; p.E283*; 7:92234591-92234591

 livercarcinomaSubstitution - Nonsense

c.1383C>A; p.F461L; 7:92222850-92222850

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.847-1G>T; p.?; 7:92234592-92234592

 livercarcinomaUnknown

c.748A>C; p.N250H; 7:92234905-92234905

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1225A>G; p.K409E; 7:92225749-92225749

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1969C>T; p.P657S; 7:92213251-92213251

 skinmalignant_melanomaSubstitution - Missense

c.756C>A; p.Y252*; 7:92234897-92234897

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.774A>G; p.P258P; 7:92234879-92234879

 pancreascarcinomaSubstitution - coding silent

c.1796A>G; p.N599S; 7:92213914-92213914

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1092A>T; p.G364G; 7:92226580-92226580

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.174T>C; p.L58L; 7:92241081-92241081

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1075C>A; p.L359I; 7:92226597-92226597

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1073_1075delCTC; p.P358delP; 7:92226597-92226599

 endometriumcarcinoma; endometrioid_carcinomaDeletion - In frame

c.885C>T; p.S295S; 7:92234553-92234553

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1798C>T; p.R600C; 7:92213912-92213912

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.885C>T; p.S295S; 7:92234553-92234553

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1798C>T; p.R600C; 7:92213912-92213912

 skinmalignant_melanomaSubstitution - Missense

c.2190G>A; p.M730I; 7:92200757-92200757

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.76C>T; p.R26W; 7:92242060-92242060

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.1443G>A; p.L481L; 7:92222022-92222022

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.78G>A; p.R26R; 7:92242058-92242058

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.380C>T; p.P127L; 7:92236518-92236518

 skinmalignant_melanomaSubstitution - Missense

c.535C>T; p.R179*; 7:92235597-92235597

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.143delA; p.K48fs*17; 7:92241112-92241112

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.535C>T; p.R179*; 7:92235597-92235597

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1318A>C; p.N440H; 7:92222915-92222915

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.143delA; p.K48fs*17; 7:92241112-92241112

 stomachadenocarcinomaDeletion - Frameshift

c.835A>G; p.T279A; 7:92234818-92234818

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2129T>A; p.V710E; 7:92201320-92201320

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.453A>G; p.T151T; 7:92236445-92236445

 central_nervous_system; braingliomaSubstitution - coding silent

c.2129T>A; p.V710E; 7:92201320-92201320

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.1267C>T; p.R423*; 7:92222966-92222966

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1267C>T; p.R423*; 7:92222966-92222966

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1267C>T; p.R423*; 7:92222966-92222966

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1267C>T; p.R423*; 7:92222966-92222966

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1980A>G; p.V660V; 7:92213240-92213240

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1980A>G; p.V660V; 7:92213240-92213240

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1980A>G; p.V660V; 7:92213240-92213240

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.20T>C; p.I7T; 7:92242116-92242116

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.368A>T; p.Y123F; 7:92236530-92236530

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1031G>A; p.G344E; 7:92226641-92226641

 skinmalignant_melanomaSubstitution - Missense

c.368A>T; p.Y123F; 7:92236530-92236530

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1460G>A; p.W487*; 7:92222005-92222005

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1120C>G; p.L374V; 7:92226552-92226552

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1687T>A; p.Y563N; 7:92214654-92214654

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.168G>A; p.T56T; 7:92241087-92241087

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1622A>C; p.K541T; 7:92214719-92214719

 breastcarcinomaSubstitution - Missense

c.1174C>G; p.P392A; 7:92225800-92225800

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1973T>A; p.V658E; 7:92213247-92213247

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1996G>A; p.G666R; 7:92213224-92213224

 pancreascarcinomaSubstitution - Missense

c.1799G>A; p.R600H; 7:92213911-92213911

 stomachadenocarcinomaSubstitution - Missense

c.1710delA; p.K570fs*7; 7:92214631-92214631

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.419G>A; p.R140Q; 7:92236479-92236479

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1145G>C; p.R382T; 7:92226527-92226527

 breastcarcinomaSubstitution - Missense

c.1145G>C; p.R382T; 7:92226527-92226527

 thyroidcarcinoma; medullary_carcinomaSubstitution - Missense

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