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

Basic Information

Gene ID

9314

Name

KLF4

Synonymous

Kruppel-like factor 4 (gut);KLF4;Kruppel-like factor 4 (gut)

Definition

Krueppel-like factor 4|endothelial Kruppel-like zinc finger protein|epithelial zinc finger protein EZF|gut-enriched krueppel-like factor

Position

9q31

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 0.03.

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.385T>C; p.S129P; 9:107488009-107488009

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1099+7_1099+8CC>TT; p.?; 9:107487287-107487288

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.1237C>T; p.L413F; 9:107487055-107487055

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.1178C>T; p.T393I; 9:107487114-107487114

 skinmalignant_melanomaSubstitution - Missense

c.489G>T; p.A163A; 9:107487905-107487905

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.708C>A; p.S236R; 9:107487686-107487686

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaSubstitution - Missense

c.1353G>A; p.T451T; 9:107485838-107485838

 skinmalignant_melanomaSubstitution - coding silent

c.185C>A; p.P62H; 9:107488209-107488209

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.395C>G; p.S132C; 9:107487999-107487999

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.663A>T; p.P221P; 9:107487731-107487731

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.38G>A; p.S13N; 9:107489018-107489018

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1168C>T; p.R390W; 9:107487124-107487124

 central_nervous_system; braingliomaSubstitution - Missense

c.1265G>A; p.G422D; 9:107485926-107485926

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.648G>T; p.Q216H; 9:107487746-107487746

 pancreascarcinomaSubstitution - Missense

c.288C>T; p.T96T; 9:107488106-107488106

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1253G>A; p.R418Q; 9:107487039-107487039

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1001T>C; p.L334P; 9:107487393-107487393

 skinmalignant_melanomaSubstitution - Missense

c.877C>T; p.P293S; 9:107487517-107487517

 skinmalignant_melanomaSubstitution - Missense

c.433C>A; p.P145T; 9:107487961-107487961

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1100-8A>G; p.?; 9:107487200-107487200

 skinmalignant_melanomaUnknown

c.272T>C; p.L91P; 9:107488122-107488122

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.272T>C; p.L91P; 9:107488122-107488122

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.272T>C; p.L91P; 9:107488122-107488122

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.272T>C; p.L91P; 9:107488122-107488122

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.202G>A; p.A68T; 9:107488192-107488192

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.341C>T; p.T114I; 9:107488053-107488053

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1027C>A; p.H343N; 9:107487367-107487367

 skinmalignant_melanomaSubstitution - Missense

c.1318T>G; p.S440A; 9:107485873-107485873

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1286A>T; p.D429V; 9:107485905-107485905

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.614G>A; p.R205Q; 9:107487780-107487780

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1294G>A; p.G432S; 9:107485897-107485897

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.712C>T; p.P238S; 9:107487682-107487682

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.901G>T; p.A301S; 9:107487493-107487493

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1252C>T; p.R418*; 9:107487040-107487040

 oesophaguscarcinoma; adenocarcinomaSubstitution - Nonsense

c.1129G>T; p.E377*; 9:107487163-107487163

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.946A>C; p.T316P; 9:107487448-107487448

 pancreascarcinomaSubstitution - Missense

c.1203G>T; p.A401A; 9:107487089-107487089

 oesophaguscarcinomaSubstitution - coding silent

c.242C>T; p.A81V; 9:107488152-107488152

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.919_920insC; p.L307fs*16; 9:107487474-107487475

 large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.1320A>G; p.S440S; 9:107485871-107485871

 prostatecarcinomaSubstitution - coding silent

c.916C>T; p.P306S; 9:107487478-107487478

 skinmalignant_melanomaSubstitution - Missense

c.1086G>A; p.P362P; 9:107487308-107487308

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1343G>C; p.R448P; 9:107485848-107485848

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.1086G>A; p.P362P; 9:107487308-107487308

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.188A>G; p.Y63C; 9:107488206-107488206

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1312G>T; p.A438S; 9:107485879-107485879

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.504C>T; p.G168G; 9:107487890-107487890

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.504C>T; p.G168G; 9:107487890-107487890

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.217G>A; p.D73N; 9:107488177-107488177

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningioma; secretorySubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningioma; secretorySubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningioma; secretorySubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningiomaSubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningioma; secretorySubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningiomaSubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningioma; secretorySubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningiomaSubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningioma; secretorySubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningioma; secretorySubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningiomaSubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningiomaSubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningiomaSubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningiomaSubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningiomaSubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 pancreasother; adenomaSubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningioma; secretorySubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningioma; secretorySubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningiomaSubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningioma; secretorySubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningiomaSubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningiomaSubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningioma; secretorySubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningiomaSubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningiomaSubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningioma; secretorySubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningioma; secretorySubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningiomaSubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningiomaSubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningiomaSubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningioma; secretorySubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningioma; secretorySubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningioma; secretorySubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningioma; secretorySubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningiomaSubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningioma; secretorySubstitution - Missense

c.109G>T; p.A37S; 9:107488947-107488947

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningiomaSubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 breastcarcinomaSubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningiomaSubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningiomaSubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningiomaSubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningioma; secretorySubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningioma; secretorySubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningioma; secretorySubstitution - Missense

c.109G>T; p.A37S; 9:107488947-107488947

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 breastcarcinomaSubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningiomaSubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningiomaSubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningioma; secretorySubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningioma; secretorySubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningiomaSubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningioma; secretorySubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningiomaSubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningiomaSubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningiomaSubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningiomaSubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningioma; secretorySubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningioma; secretorySubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningioma; secretorySubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningiomaSubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningiomaSubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningioma; secretorySubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningiomaSubstitution - Missense

c.1225A>C; p.K409Q; 9:107487067-107487067

 meningesmeningioma; secretorySubstitution - Missense

c.1243G>A; p.A415T; 9:107487049-107487049

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.335C>T; p.S112L; 9:107488059-107488059

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.843G>A; p.A281A; 9:107487551-107487551

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1065G>C; p.Q355H; 9:107487329-107487329

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1232C>A; p.S411Y; 9:107487060-107487060

 pancreascarcinomaSubstitution - Missense

c.1204G>T; p.G402C; 9:107487088-107487088

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.288C>A; p.T96T; 9:107488106-107488106

 lungcarcinoma; non_small_cell_carcinomaSubstitution - coding silent

c.1148G>C; p.R383T; 9:107487144-107487144

 breastcarcinomaSubstitution - Missense

c.191A>T; p.D64V; 9:107488203-107488203

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1137C>G; p.P379P; 9:107487155-107487155

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.1137C>G; p.P379P; 9:107487155-107487155

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.411G>A; p.S137S; 9:107487983-107487983

 skinmalignant_melanomaSubstitution - coding silent

c.1188C>T; p.H396H; 9:107487104-107487104

 lungcarcinoma; non_small_cell_carcinomaSubstitution - coding silent

c.1364C>T; p.P455L; 9:107485827-107485827

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.249C>T; p.C83C; 9:107488145-107488145

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - coding silent

c.1186C>A; p.H396N; 9:107487106-107487106

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1232C>T; p.S411F; 9:107487060-107487060

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.469G>A; p.G157R; 9:107487925-107487925

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.9G>A; p.Q3Q; 9:107489047-107489047

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.271C>T; p.L91L; 9:107488123-107488123

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.436T>G; p.S146A; 9:107487958-107487958

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1321G>A; p.D441N; 9:107485870-107485870

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1321G>A; p.D441N; 9:107485870-107485870

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1246C>T; p.H416Y; 9:107487046-107487046

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1211G>A; p.G404D; 9:107487081-107487081

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1180G>A; p.A394T; 9:107487112-107487112

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1360C>T; p.R454C; 9:107485831-107485831

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1403C>T; p.S468L; 9:107485788-107485788

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1227G>C; p.K409N; 9:107487065-107487065

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.109G>A; p.A37T; 9:107488947-107488947

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.685T>C; p.F229L; 9:107487709-107487709

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.685T>C; p.F229L; 9:107487709-107487709

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1255A>G; p.T419A; 9:107487037-107487037

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1322A>G; p.D441G; 9:107485869-107485869

 peritoneum; appendixother; pseudomyxoma_peritoneiSubstitution - Missense

c.48G>T; p.L16L; 9:107489008-107489008

 thyroidother; neoplasmSubstitution - coding silent

c.1040A>G; p.N347S; 9:107487354-107487354

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

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