mutated Ligand Binding Site gene DataBase





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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for KLKB1
Gene summary
Basic gene Info.Gene symbolKLKB1
Gene namekallikrein B, plasma (Fletcher factor) 1
CytomapUCSC genome browser: 4q35
Type of geneprotein-coding
DescriptionFletcher factorkininogeninplasma kallikreinplasma kallikrein heavy chainplasma kallikrein light chainplasma prekallikrein
Modification date20141211
dbXrefs MIM : 229000
Ensembl : ENSG00000164344
HPRD : 01971
Vega : OTTHUMG00000150347
ProteinUniProt: P03952
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_KLKB1
BioGPS: 3818
PathwayNCI Pathway Interaction Database: KLKB1
Pathway Commons: KLKB1
ContextiHOP: KLKB1
ligand binding site mutation search in PubMed: KLKB1
UCL Cancer Institute: KLKB1
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0031639plasminogen activation89876
GO:0051919positive regulation of fibrinolysis89876

Ligand binding site mutations for KLKB1
Lollipop-style diagram of mutations at LBS in amino-acid sequence.
We represented ligand binding site mutations only. (You can see big image via clicking.)
: non-synonymous mutation on LBS, Circle size denotes number of samples.

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma.

Protein structure related information for KLKB1
Relative protein structure stability change (ΔΔE) using Mupro 1.1
Mupro score denotes assessment of the effect of mutations on thermodynamic stability.
  (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability)
: nsSNV at non-LBS: nsSNV at LBS

nsSNVs sorted by the relative stability change of protein structure by each mutation
Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene.
LBSAAchange of nsSNVRelative stability change
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132)

Structure image for KLKB1 from PDB

Differential gene expression and gene-gene network for KLKB1
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types

Differential co-expressed gene network based on protein-protein interaction data (CePIN)
* Left PPI network was created from samples with mutations in the LBS of KLKB1 and the right PPI network was created from samples without mutations in the LBS of KLKB1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for KLKB1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0272339Prekallikrein Deficiency5Biomarker, GeneticVariation

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

Pharmacological information for KLKB1
Gene expression profile of anticancer drug treated cell-lines (CCLE)
Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
ApprovedDB05311EcallantideSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of KLKB1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of KLKB1
Multiple alignments for P03952 in multiple species
LBSAA sequence# speciesSpecies
A573EGGKDACKGDS2Homo sapiens, Bos taurus
A573EGGTDACKGDS1Mus musculus
C574GGKDACKGDSG2Homo sapiens, Bos taurus
C574GGTDACKGDSG1Mus musculus
D437AAHCFDGLPLQ1Homo sapiens
D437AAHCFDGIPYP1Mus musculus
D437AAHCFDGLLLS1Bos taurus
D572KEGGKDACKGD2Homo sapiens, Bos taurus
D572KEGGTDACKGD1Mus musculus
E479NYKVSEGNHDI1Homo sapiens
E479EYKVSEGNYDI1Mus musculus
E479NYKISEGSHDI1Bos taurus
E600ITSWGEGCARR2Homo sapiens, Bos taurus
E600ITSWGEGCARK1Mus musculus
G480YKVSEGNHDIA1Homo sapiens
G480YKVSEGNYDIA1Mus musculus
G480YKISEGSHDIA1Bos taurus
G576KDACKGDSGGP2Homo sapiens, Bos taurus
G576TDACKGDSGGP1Mus musculus
G599GITSWGEGCAR3Homo sapiens, Mus musculus, Bos taurus
G601TSWGEGCARRE2Homo sapiens, Bos taurus
G601TSWGEGCARKD1Mus musculus
G609RREQPGVYTKV2Homo sapiens, Bos taurus
G609RKDQPGVYTKV1Mus musculus
H417LTAQRHLCGGS1Homo sapiens
H417LVSQTHLCGGS1Mus musculus
H417QRAQSHLCGGS1Bos taurus
H434VLTAAHCFDGL2Homo sapiens, Bos taurus
H434VLTAAHCFDGI1Mus musculus
K575GKDACKGDSGG2Homo sapiens, Bos taurus
K575GTDACKGDSGG1Mus musculus
L418TAQRHLCGGSL1Homo sapiens
L418VSQTHLCGGSI1Mus musculus
L418RAQSHLCGGSI1Bos taurus
R416KLTAQRHLCGG1Homo sapiens
R416KLVSQTHLCGG1Mus musculus
R416KQRAQSHLCGG1Bos taurus
S478QNYKVSEGNHD1Homo sapiens
S478QEYKVSEGNYD1Mus musculus
S478PNYKISEGSHD1Bos taurus
S578ACKGDSGGPLV3Homo sapiens, Mus musculus, Bos taurus
S597LVGITSWGEGC3Homo sapiens, Mus musculus, Bos taurus
T596RLVGITSWGEG1Homo sapiens
T596QLVGITSWGEG1Mus musculus
T596HLVGITSWGEG1Bos taurus
V477HQNYKVSEGNH1Homo sapiens
V477HQEYKVSEGNY1Mus musculus
V477HPNYKISEGSH1Bos taurus
W598VGITSWGEGCA3Homo sapiens, Mus musculus, Bos taurus
Y555KRYQDYKITQR1Homo sapiens
Y555KKYRDYVINKQ1Mus musculus
Y555KSYRDYKITKQ1Bos taurus

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