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

Basic Information

Gene ID

5653

Name

KLK6

Synonymous

kallikrein-related peptidase 6;KLK6;kallikrein-related peptidase 6

Definition

kallikrein-6|neurosin|protease M|serine protease 18|serine protease 9|zyme

Position

19q13.3

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 0.00.

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.358G>A; p.E120K; 19:50963389-50963389

 breastcarcinomaSubstitution - Missense

c.707G>A; p.W236*; 19:50959192-50959192

 skinmalignant_melanomaSubstitution - Nonsense

c.233G>A; p.R78Q; 19:50963514-50963514

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.131A>G; p.H44R; 19:50967235-50967235

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.611G>A; p.G204E; 19:50959288-50959288

 skin; trunkmalignant_melanoma; nodularSubstitution - Missense

c.422_423TG>GT; p.L141>?; 19:50963324-50963325

 lungcarcinoma; small_cell_carcinomaComplex

c.92C>T; p.T31I; 19:50967274-50967274

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.76G>A; p.G26R; 19:50967290-50967290

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.76G>A; p.G26R; 19:50967290-50967290

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.195delA; p.K65fs*29; 19:50967171-50967171

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.702G>A; p.T234T; 19:50959197-50959197

 skinmalignant_melanomaSubstitution - coding silent

c.331C>T; p.R111C; 19:50963416-50963416

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.331C>T; p.R111C; 19:50963416-50963416

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.126G>A; p.S42S; 19:50967240-50967240

 skinmalignant_melanomaSubstitution - coding silent

c.265G>C; p.V89L; 19:50963482-50963482

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.83G>A; p.C28Y; 19:50967283-50967283

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.274G>A; p.A92T; 19:50963473-50963473

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.634T>G; p.S212A; 19:50959265-50959265

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.453C>T; p.F151F; 19:50961873-50961873

 skinmalignant_melanomaSubstitution - coding silent

c.453C>T; p.F151F; 19:50961873-50961873

 skinmalignant_melanomaSubstitution - coding silent

c.85G>A; p.D29N; 19:50967281-50967281

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.168G>T; p.W56C; 19:50967198-50967198

 adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningSubstitution - Missense

c.387G>A; p.R129R; 19:50963360-50963360

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.270C>T; p.V90V; 19:50963477-50963477

 livercarcinomaSubstitution - coding silent

c.600G>A; p.P200P; 19:50959299-50959299

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.40+2T>C; p.?; 19:50968063-50968063

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.85G>T; p.D29Y; 19:50967281-50967281

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.411C>T; p.S137S; 19:50963336-50963336

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.81C>T; p.P27P; 19:50967285-50967285

 breastcarcinomaSubstitution - coding silent

c.332G>A; p.R111H; 19:50963415-50963415

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.332G>A; p.R111H; 19:50963415-50963415

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.332G>A; p.R111H; 19:50963415-50963415

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.626G>A; p.G209D; 19:50959273-50959273

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.541T>G; p.L181V; 19:50961785-50961785

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.663G>A; p.K221K; 19:50959236-50959236

 skin; armmalignant_melanomaSubstitution - coding silent

c.356C>T; p.S119F; 19:50963391-50963391

 skinmalignant_melanomaSubstitution - Missense

c.210C>A; p.V70V; 19:50963537-50963537

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.184C>T; p.H62Y; 19:50967182-50967182

 skinmalignant_melanomaSubstitution - Missense

c.26G>C; p.S9T; 19:50968079-50968079

 kidneyother; neoplasmSubstitution - Missense

c.521G>A; p.G174D; 19:50961805-50961805

 skinmalignant_melanomaSubstitution - Missense

c.687C>T; p.N229N; 19:50959212-50959212

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.599C>T; p.P200L; 19:50959300-50959300

 livercarcinomaSubstitution - Missense

c.421C>A; p.L141M; 19:50963326-50963326

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.599C>T; p.P200L; 19:50959300-50959300

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.666G>A; p.E222E; 19:50959233-50959233

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.599C>T; p.P200L; 19:50959300-50959300

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.599C>T; p.P200L; 19:50959300-50959300

 livercarcinomaSubstitution - Missense

c.599C>T; p.P200L; 19:50959300-50959300

 skinmalignant_melanomaSubstitution - Missense

c.695G>T; p.R232I; 19:50959204-50959204

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.125C>T; p.S42L; 19:50967241-50967241

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.340C>T; p.R114C; 19:50963407-50963407

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.340C>T; p.R114C; 19:50963407-50963407

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.486G>C; p.L162L; 19:50961840-50961840

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.182C>G; p.A61G; 19:50967184-50967184

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.115C>T; p.L39F; 19:50967251-50967251

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.601C>T; p.L201L; 19:50959298-50959298

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.325C>T; p.L109L; 19:50963422-50963422

 skinmalignant_melanomaSubstitution - coding silent

c.295G>A; p.D99N; 19:50963452-50963452

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.321C>T; p.I107I; 19:50963426-50963426

 skin; trunkmalignant_melanoma; nodularSubstitution - coding silent

c.321C>T; p.I107I; 19:50963426-50963426

 skinmalignant_melanomaSubstitution - coding silent

c.40+1G>T; p.?; 19:50968064-50968064

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.454C>T; p.P152S; 19:50961872-50961872

 skinmalignant_melanomaSubstitution - Missense

c.494G>A; p.R165H; 19:50961832-50961832

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.381G>A; p.L127L; 19:50963366-50963366

 central_nervous_system; braingliomaSubstitution - coding silent

c.566_567GG>AA; p.G189E; 19:50961759-50961760

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.472G>C; p.A158P; 19:50961854-50961854

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.143G>T; p.G48V; 19:50967223-50967223

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.366C>T; p.I122I; 19:50963381-50963381

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.213C>T; p.F71F; 19:50963534-50963534

 skinmalignant_melanomaSubstitution - coding silent

c.324G>C; p.M108I; 19:50963423-50963423

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.588T>C; p.D196D; 19:50959311-50959311

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.106C>T; p.Q36*; 19:50967260-50967260

 skinmalignant_melanomaSubstitution - Nonsense

c.635C>T; p.S212L; 19:50959264-50959264

 skin; extremitymalignant_melanomaSubstitution - Missense

c.623G>A; p.R208Q; 19:50959276-50959276

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

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