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

Basic Information

Gene ID

688

Name

KLF5

Synonymous

Kruppel-like factor 5 (intestinal);KLF5;Kruppel-like factor 5 (intestinal)

Definition

BTE-binding protein 2|GC box binding protein 2|Klf5C isoform|Krueppel-like factor 5|basic transcription element binding protein 2|colon krueppel-like factor|colon kruppel-like factor|intestinal-enriched krueppel-like factor|intestinal-enriched kruppel-lik

Position

13q22.1

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 0.04.

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.1053A>T; p.S351S; 13:73062652-73062652

biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - coding silent

c.914C>G; p.P305R; 13:73062513-73062513

upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.914C>G; p.P305R; 13:73062513-73062513

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1255G>C; p.E419Q; 13:73075767-73075767

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1255G>C; p.E419Q; 13:73075767-73075767

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1255G>C; p.E419Q; 13:73075767-73075767

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1158G>C; p.K386N; 13:73063846-73063846

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1255G>C; p.E419Q; 13:73075767-73075767

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1158G>C; p.K386N; 13:73063846-73063846

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1255G>C; p.E419Q; 13:73075767-73075767

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1242C>T; p.F414F; 13:73075754-73075754

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1242C>T; p.F414F; 13:73075754-73075754

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1255G>A; p.E419K; 13:73075767-73075767

lung; middle_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.903C>T; p.P301P; 13:73062502-73062502

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.586C>A; p.H196N; 13:73062185-73062185

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1085_1100del16; p.S363fs*23; 13:73062684-73062699

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaDeletion - Frameshift

c.672G>C; p.Q224H; 13:73062271-73062271

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1185G>T; p.R395S; 13:73063873-73063873

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.462G>T; p.Q154H; 13:73062061-73062061

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.539C>T; p.P180L; 13:73062138-73062138

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1210A>G; p.K404E; 13:73075722-73075722

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.593C>T; p.T198I; 13:73062192-73062192

skinmalignant_melanomaSubstitution - Missense

c.1261A>C; p.T421P; 13:73075773-73075773

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1261A>C; p.T421P; 13:73075773-73075773

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1261A>C; p.T421P; 13:73075773-73075773

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1261A>C; p.T421P; 13:73075773-73075773

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1288G>A; p.A430T; 13:73075800-73075800

kidneyother; neoplasmSubstitution - Missense

c.324G>A; p.E108E; 13:73061923-73061923

oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.901C>T; p.P301S; 13:73062500-73062500

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.901C>T; p.P301S; 13:73062500-73062500

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.483C>G; p.I161M; 13:73062082-73062082

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.902C>A; p.P301H; 13:73062501-73062501

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1253A>G; p.D418G; 13:73075765-73075765

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.398G>T; p.S133I; 13:73061997-73061997

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.307G>A; p.V103I; 13:73061906-73061906

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.369C>T; p.F123F; 13:73061968-73061968

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.897C>T; p.Y299Y; 13:73062496-73062496

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.499G>A; p.A167T; 13:73062098-73062098

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.841A>G; p.M281V; 13:73062440-73062440

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.941G>A; p.R314K; 13:73062540-73062540

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.932G>T; p.S311I; 13:73062531-73062531

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.932G>T; p.S311I; 13:73062531-73062531

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.929_931delGAA; p.S311delS; 13:73062528-73062530

large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.1192A>G; p.T398A; 13:73063880-73063880

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.655C>T; p.L219F; 13:73062254-73062254

breastcarcinomaSubstitution - Missense

c.350C>T; p.A117V; 13:73061949-73061949

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.896_897insA; p.Y299fs*1; 13:73062495-73062496

biliary_tract; gallbladdercarcinoma; adenocarcinomaInsertion - Frameshift

c.545C>T; p.P182L; 13:73062144-73062144

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1250C>T; p.S417L; 13:73075762-73075762

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.492A>C; p.E164D; 13:73062091-73062091

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.958C>T; p.Q320*; 13:73062557-73062557

skinmalignant_melanomaSubstitution - Nonsense

c.845C>T; p.P282L; 13:73062444-73062444

skinmalignant_melanomaSubstitution - Missense

c.781G>A; p.A261T; 13:73062380-73062380

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.907T>C; p.S303P; 13:73062506-73062506

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.595G>A; p.A199T; 13:73062194-73062194

central_nervous_system; braingliomaSubstitution - Missense

c.911C>T; p.P304L; 13:73062510-73062510

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.725C>G; p.S242C; 13:73062324-73062324

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1253A>T; p.D418V; 13:73075765-73075765

salivary_gland; parotidcarcinoma; adenoid_cystic_carcinomaSubstitution - Missense

c.523A>G; p.T175A; 13:73062122-73062122

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.420C>T; p.L140L; 13:73062019-73062019

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.953T>G; p.M318R; 13:73062552-73062552

livercarcinomaSubstitution - Missense

c.919T>G; p.S307A; 13:73062518-73062518

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.953T>G; p.M318R; 13:73062552-73062552

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1024A>T; p.N342Y; 13:73062623-73062623

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.843G>A; p.M281I; 13:73062442-73062442

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.317T>G; p.I106S; 13:73061916-73061916

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1198G>A; p.E400K; 13:73075710-73075710

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1198G>A; p.E400K; 13:73075710-73075710

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1163_1165delCTC; p.S388_H389>Y; 13:73063851-73063853

large_intestinecarcinoma; adenocarcinomaComplex - deletion inframe

c.812C>T; p.P271L; 13:73062411-73062411

breastcarcinomaSubstitution - Missense

c.28G>A; p.A10T; 13:73059355-73059355

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.28G>A; p.A10T; 13:73059355-73059355

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.764C>T; p.S255F; 13:73062363-73062363

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.905C>A; p.P302Q; 13:73062504-73062504

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.941G>C; p.R314T; 13:73062540-73062540

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.443C>A; p.T148N; 13:73062042-73062042

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.846C>T; p.P282P; 13:73062445-73062445

livercarcinomaSubstitution - coding silent

c.443C>A; p.T148N; 13:73062042-73062042

skinmalignant_melanomaSubstitution - Missense

c.261+3A>C; p.?; 13:73059591-73059591

oesophaguscarcinoma; adenocarcinomaUnknown

c.1252G>T; p.D418Y; 13:73075764-73075764

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1081_1083delAGA; p.R362delR; 13:73062680-73062682

stomachcarcinoma; intestinal_adenocarcinomaDeletion - In frame

c.902C>T; p.P301L; 13:73062501-73062501

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.902C>T; p.P301L; 13:73062501-73062501

skin; neckmalignant_melanomaSubstitution - Missense

c.853A>G; p.T285A; 13:73062452-73062452

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; Burkitt_lymphomaSubstitution - Missense

c.1230C>T; p.C410C; 13:73075742-73075742

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.842_843insAT; p.M281fs*43; 13:73062441-73062442

prostatecarcinomaInsertion - Frameshift

c.341G>A; p.R114Q; 13:73061940-73061940

upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.816G>A; p.Q272Q; 13:73062415-73062415

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1165C>A; p.H389N; 13:73063853-73063853

large_intestine; coloncarcinomaSubstitution - Missense

c.1165C>A; p.H389N; 13:73063853-73063853

pancreascarcinomaSubstitution - Missense

c.1165C>A; p.H389N; 13:73063853-73063853

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1165C>A; p.H389N; 13:73063853-73063853

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1165C>A; p.H389N; 13:73063853-73063853

pancreasNSSubstitution - Missense

c.811C>T; p.P271S; 13:73062410-73062410

skinmalignant_melanomaSubstitution - Missense

c.447C>T; p.G149G; 13:73062046-73062046

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.864G>A; p.M288I; 13:73062463-73062463

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1190A>C; p.H397P; 13:73063878-73063878

salivary_glandcarcinoma; adenoid_cystic_carcinomaSubstitution - Missense

c.375T>G; p.T125T; 13:73061974-73061974

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.843G>T; p.M281I; 13:73062442-73062442

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.353C>T; p.S118L; 13:73061952-73061952

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1317C>T; p.N439N; 13:73075829-73075829

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.725C>A; p.S242Y; 13:73062324-73062324

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.293C>G; p.P98R; 13:73061892-73061892

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.486_487insAC; p.E164fs*41; 13:73062085-73062086

biliary_tract; gallbladdercarcinoma; adenocarcinomaInsertion - Frameshift

c.421C>T; p.P141S; 13:73062020-73062020

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.910C>A; p.P304T; 13:73062509-73062509

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense


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