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 KCNIP3
Gene summary
Basic gene Info.Gene symbolKCNIP3
Gene nameKv channel interacting protein 3, calsenilin
SynonymsCSEN|DREAM|KCHIP3
CytomapUCSC genome browser: 2q21.1
Type of geneprotein-coding
RefGenesNM_001034914.1,
NM_013434.4,
DescriptionA-type potassium channel modulatory protein 3DRE-antagonist modulatorcalsenilincalsenilin, presenilin-binding protein, EF hand transcription factorkv channel-interacting protein 3potassium channel interacting protein 3
Modification date20141207
dbXrefs MIM : 604662
HGNC : HGNC
Ensembl : ENSG00000115041
HPRD : 05232
Vega : OTTHUMG00000130392
ProteinUniProt: Q9Y2W7
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_KCNIP3
BioGPS: 30818
PathwayNCI Pathway Interaction Database: KCNIP3
KEGG: KCNIP3
REACTOME: KCNIP3
Pathway Commons: KCNIP3
ContextiHOP: KCNIP3
ligand binding site mutation search in PubMed: KCNIP3
UCL Cancer Institute: KCNIP3
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 KCNIP3

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
D179D179GCOAD1
N177,D179K178NSTAD1
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 KCNIP3
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
N177K178N-1.2485272
D179K178N-1.2485272
D179D179G-0.77075156
(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 KCNIP3 from PDB

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Differential gene expression and gene-gene network for KCNIP3
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 KCNIP3 and the right PPI network was created from samples without mutations in the LBS of KCNIP3. 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 KCNIP3
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 KCNIP3
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 KCNIP3 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
CACALCIUM(2+)2e6wAN177 D179


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Conservation information for LBS of KCNIP3
Multiple alignments for Q9Y2W7 in multiple species
LBSAA sequence# speciesSpecies
D175AFNLYDINKDG3Homo sapiens, Mus musculus, Rattus norvegicus
D179YDINKDGYITK2Homo sapiens, Rattus norvegicus
D179YDINKDGCITK1Mus musculus
D223FFQKMDRNQDG2Mus musculus, Rattus norvegicus
D223FFEKMDRNQDG1Homo sapiens
D227MDRNQDGVVTI3Homo sapiens, Mus musculus, Rattus norvegicus
E186YITKEEMLAIM2Homo sapiens, Rattus norvegicus
E186CITKEEMLAIM1Mus musculus
E234VVTIDEFLETC2Mus musculus, Rattus norvegicus
E234VVTIEEFLEAC1Homo sapiens
N177NLYDINKDGYI2Homo sapiens, Rattus norvegicus
N177NLYDINKDGCI1Mus musculus
N225QKMDRNQDGVV2Mus musculus, Rattus norvegicus
N225EKMDRNQDGVV1Homo sapiens
T231QDGVVTIDEFL2Mus musculus, Rattus norvegicus
T231QDGVVTIEEFL1Homo sapiens
V229RNQDGVVTIDE2Mus musculus, Rattus norvegicus
V229RNQDGVVTIEE1Homo sapiens
V230NQDGVVTIDEF2Mus musculus, Rattus norvegicus
V230NQDGVVTIEEF1Homo sapiens
Y181INKDGYITKEE2Homo sapiens, Rattus norvegicus
Y181INKDGCITKEE1Mus musculus


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