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

Basic Information

Gene ID

1316

Name

KLF6

Synonymous

Kruppel-like factor 6;KLF6;Kruppel-like factor 6

Definition

B-cell-derived protein 1|GC-rich binding factor|GC-rich sites-binding factor GBF|Krueppel-like factor 6|Kruppel-like zinc finger protein Zf9|core promoter element binding protein|core promoter element-binding protein|proto-oncogene BCD1|protooncogene B-ce

Position

10p15

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 0.13.

The copy number variations for various cancers

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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.843G>A; p.R281R; 10:3779548-3779548

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.748C>T; p.H250Y; 10:3780158-3780158

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.361C>T; p.P121S; 10:3781956-3781956

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.736G>A; p.E246K; 10:3780170-3780170

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.736G>A; p.E246K; 10:3780170-3780170

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.462G>C; p.L154L; 10:3781855-3781855

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.366G>A; p.T122T; 10:3781951-3781951

 pancreascarcinoma; adenocarcinomaSubstitution - coding silent

c.330C>T; p.S110S; 10:3781987-3781987

 thyroidcarcinomaSubstitution - coding silent

c.603G>A; p.R201R; 10:3781714-3781714

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.121C>T; p.R41C; 10:3782196-3782196

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.121C>T; p.R41C; 10:3782196-3782196

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.410C>T; p.S137L; 10:3781907-3781907

 prostatecarcinomaSubstitution - Missense

c.240G>C; p.K80N; 10:3782077-3782077

 breastcarcinomaSubstitution - Missense

c.126C>A; p.Y42*; 10:3782191-3782191

 livercarcinoma; hepatocellular_carcinomaSubstitution - Nonsense

c.754C>T; p.R252*; 10:3780152-3780152

 skinmalignant_melanomaSubstitution - Nonsense

c.754C>T; p.R252*; 10:3780152-3780152

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.298G>C; p.E100Q; 10:3782019-3782019

 skinmalignant_melanomaSubstitution - Missense

c.676+10C>T; p.?; 10:3781631-3781631

 pancreascarcinomaUnknown

c.526C>T; p.R176C; 10:3781791-3781791

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.801G>A; p.R267R; 10:3779590-3779590

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.624G>A; p.R208R; 10:3781693-3781693

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.232G>A; p.E78K; 10:3782085-3782085

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.499G>A; p.G167R; 10:3781818-3781818

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.331G>A; p.E111K; 10:3781986-3781986

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.799A>G; p.R267G; 10:3780107-3780107

 livercarcinomaSubstitution - Missense

c.636C>T; p.T212T; 10:3781681-3781681

 livercarcinomaSubstitution - coding silent

c.636C>T; p.T212T; 10:3781681-3781681

 livercarcinomaSubstitution - coding silent

c.602G>A; p.R201Q; 10:3781715-3781715

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.601C>T; p.R201W; 10:3781716-3781716

 skinmalignant_melanomaSubstitution - Missense

c.232G>T; p.E78*; 10:3782085-3782085

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.392G>A; p.G131D; 10:3781925-3781925

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.484T>G; p.W162G; 10:3781833-3781833

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.808T>G; p.S270A; 10:3779583-3779583

 thyroidother; neoplasmSubstitution - Missense

c.424T>G; p.S142A; 10:3781893-3781893

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.755G>C; p.R252P; 10:3780151-3780151

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.849C>A; p.L283L; 10:3779542-3779542

 skinmalignant_melanomaSubstitution - coding silent

c.371A>G; p.K124R; 10:3781946-3781946

 thyroidcarcinomaSubstitution - Missense

c.371A>G; p.K124R; 10:3781946-3781946

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.728G>A; p.R243K; 10:3780178-3780178

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.510C>T; p.P170P; 10:3781807-3781807

 skinmalignant_melanomaSubstitution - coding silent

c.515C>T; p.P172L; 10:3781802-3781802

 skin; extremitymalignant_melanomaSubstitution - Missense

c.800G>T; p.R267M; 10:3780106-3780106

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.568G>A; p.D190N; 10:3781749-3781749

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.809C>T; p.S270F; 10:3779582-3779582

 skinmalignant_melanomaSubstitution - Missense

c.492C>T; p.C164C; 10:3781825-3781825

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.800+5G>T; p.?; 10:3780101-3780101

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.665G>T; p.R222L; 10:3781652-3781652

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.300G>A; p.E100E; 10:3782017-3782017

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.231C>T; p.S77S; 10:3782086-3782086

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.231C>T; p.S77S; 10:3782086-3782086

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.712G>C; p.E238Q; 10:3780194-3780194

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.394G>A; p.E132K; 10:3781923-3781923

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.269_270delTC; p.L90fs*24; 10:3782047-3782048

 kidneycarcinoma; clear_cell_renal_cell_carcinomaDeletion - Frameshift

c.394G>A; p.E132K; 10:3781923-3781923

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.92A>G; p.Y31C; 10:3784923-3784923

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.18G>C; p.M6I; 10:3784997-3784997

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

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