mutLBSgeneDB

mutLBSgeneDB
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 KCNK4
Gene summary
Basic gene Info.Gene symbolKCNK4
Gene namepotassium channel, subfamily K, member 4
SynonymsK2p4.1|TRAAK|TRAAK1
CytomapUCSC genome browser: 11q13
Type of geneprotein-coding
RefGenesNM_033310.2,
NM_016611.2,NM_033311.1,
DescriptionK2P4.1 potassium channelTWIK-related arachidonic acid-stimulated potassium channel proteinpotassium channel subfamily K member 4two pore K(+) channel KT4.1two pore K+ channel KT4.1two pore potassium channel KT4.1
Modification date20141207
dbXrefs MIM : 605720
HGNC : HGNC
Ensembl : ENSG00000182450
HPRD : 12037
Vega : OTTHUMG00000168006
ProteinUniProt: Q9NYG8
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_KCNK4
BioGPS: 50801
PathwayNCI Pathway Interaction Database: KCNK4
KEGG: KCNK4
REACTOME: KCNK4
Pathway Commons: KCNK4
ContextiHOP: KCNK4
ligand binding site mutation search in PubMed: KCNK4
UCL Cancer Institute: KCNK4
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID


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Ligand binding site mutations for KCNK4
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
G107N108KBRCA1
V213V213LKIRC1
T211T209MUCEC1
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.


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Protein structure related information for KCNK4
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
T211T209M-0.87761665
V213V213L-0.63553659
G107N108K-0.51024074
(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 KCNK4 from PDB

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Differential gene expression and gene-gene network for KCNK4
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 KCNK4 and the right PPI network was created from samples without mutations in the LBS of KCNK4. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for KCNK4
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

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Pharmacological information for KCNK4
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of KCNK4 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of KCNK4
Multiple alignments for Q9NYG8 in multiple species
LBSAA sequence# speciesSpecies
D223YVPGDGTGQNS2Mus musculus, Rattus norvegicus
D223YVAGADPRQDS1Homo sapiens
D89HSSAWNLGSAF2Mus musculus, Rattus norvegicus
D89HSA-WDLGSAF1Homo sapiens
F215LTTVGFGDYVP2Mus musculus, Rattus norvegicus
F215LTTVGFGDYVA1Homo sapiens
G105IITTIGYGNVA1Homo sapiens
G105IITTIGYGNIV1Mus musculus
G105IITTIGYGNIA1Rattus norvegicus
G107TTIGYGNVALR1Homo sapiens
G107TTIGYGNIVLH1Mus musculus
G107TTIGYGNIALH1Rattus norvegicus
G214TLTTVGFGDYV3Homo sapiens, Mus musculus, Rattus norvegicus
G216TTVGFGDYVPG2Mus musculus, Rattus norvegicus
G216TTVGFGDYVAG1Homo sapiens
I104TIITTIGYGNI2Mus musculus, Rattus norvegicus
I104TIITTIGYGNV1Homo sapiens
S86NSSNHSSAWNL2Mus musculus, Rattus norvegicus
S86SNSSHSA-WDL1Homo sapiens
S92AWNLGSAFFFS2Mus musculus, Rattus norvegicus
S92-WDLGSAFFFS1Homo sapiens
T102SGTIITTIGYG3Homo sapiens, Mus musculus, Rattus norvegicus
T103GTIITTIGYGN3Homo sapiens, Mus musculus, Rattus norvegicus
T211VIVTLTTVGFG3Homo sapiens, Mus musculus, Rattus norvegicus
T212IVTLTTVGFGD3Homo sapiens, Mus musculus, Rattus norvegicus
V213VTLTTVGFGDY3Homo sapiens, Mus musculus, Rattus norvegicus
Y106ITTIGYGNVAL1Homo sapiens
Y106ITTIGYGNIVL1Mus musculus
Y106ITTIGYGNIAL1Rattus norvegicus


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