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 KIFC1
Gene summary
Basic gene Info.Gene symbolKIFC1
Gene namekinesin family member C1
SynonymsHSET|KNSL2
CytomapUCSC genome browser: 6p21.3
Type of geneprotein-coding
RefGenesNM_002263.3,
Descriptionkinesin-like 2kinesin-like protein 2kinesin-like protein KIFC1kinesin-related protein HSET
Modification date20141207
dbXrefs MIM : 603763
HGNC : HGNC
Ensembl : ENSG00000237649
Vega : OTTHUMG00000031209
ProteinUniProt: Q9BW19
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_KIFC1
BioGPS: 3833
PathwayNCI Pathway Interaction Database: KIFC1
KEGG: KIFC1
REACTOME: KIFC1
Pathway Commons: KIFC1
ContextiHOP: KIFC1
ligand binding site mutation search in PubMed: KIFC1
UCL Cancer Institute: KIFC1
Assigned class in mutLBSgeneDBC: This gene just belongs to 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 KIFC1
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
P319P319SBRCA1
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 KIFC1
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
P319P319S-0.56720968
(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 KIFC1 from PDB

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Differential gene expression and gene-gene network for KIFC1
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 KIFC1 and the right PPI network was created from samples without mutations in the LBS of KIFC1. 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 KIFC1
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 KIFC1
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.
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 KIFC1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ADPADP2repAP319


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Conservation information for LBS of KIFC1
Multiple alignments for Q9BW19 in multiple species
LBSAA sequence# speciesSpecies
F418GSGKTFTMEGG4Homo sapiens, Mus musculus, Mus musculus, Rattus norvegicus
F418GSGKTYTMMGR4Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
F418GSGKTYTMDGV1Drosophila melanogaster
G413AYGQTGSGKTY5Drosophila melanogaster, Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
G413AYGQTGSGKTF4Homo sapiens, Mus musculus, Mus musculus, Rattus norvegicus
G415GQTGSGKTYTM5Drosophila melanogaster, Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
G415GQTGSGKTFTM4Homo sapiens, Mus musculus, Mus musculus, Rattus norvegicus
K416QTGSGKTFTME4Homo sapiens, Mus musculus, Mus musculus, Rattus norvegicus
K416QTGSGKTYTMM4Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
K416QTGSGKTYTMD1Drosophila melanogaster
L321RVRPVLEGE-S3Mus musculus, Mus musculus, Rattus norvegicus
L321RVRPLLPDDGG2Arabidopsis thaliana, Arabidopsis thaliana
L321RVRPVLPGE-P1Homo sapiens
L321RIRPPLESE-E1Drosophila melanogaster
L321RVRPLLPGENN1Arabidopsis thaliana
L321RVRPLLSGENS1Arabidopsis thaliana
P319FCRVRPVLEGE3Mus musculus, Mus musculus, Rattus norvegicus
P319FCRVRPLLPDD2Arabidopsis thaliana, Arabidopsis thaliana
P319FCRVRPVLPGE1Homo sapiens
P319FCRIRPPLESE1Drosophila melanogaster
P319FCRVRPLLPGE1Arabidopsis thaliana
P319FCRVRPLLSGE1Arabidopsis thaliana
R316IRVFCRVRPVL4Homo sapiens, Mus musculus, Mus musculus, Rattus norvegicus
R316IRVFCRVRPLL4Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
R316IRVFCRIRPPL1Drosophila melanogaster
R318VFCRVRPVLEG3Mus musculus, Mus musculus, Rattus norvegicus
R318VFCRVRPLLPD2Arabidopsis thaliana, Arabidopsis thaliana
R318VFCRVRPVLPG1Homo sapiens
R318VFCRIRPPLES1Drosophila melanogaster
R318VFCRVRPLLPG1Arabidopsis thaliana
R318VFCRVRPLLSG1Arabidopsis thaliana
S414YGQTGSGKTYT5Drosophila melanogaster, Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
S414YGQTGSGKTFT4Homo sapiens, Mus musculus, Mus musculus, Rattus norvegicus
T412FAYGQTGSGKT9Homo sapiens, Drosophila melanogaster, Mus musculus, Mus musculus, Rattus norvegicus, Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
T417TGSGKTFTMEG4Homo sapiens, Mus musculus, Mus musculus, Rattus norvegicus
T417TGSGKTYTMMG4Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
T417TGSGKTYTMDG1Drosophila melanogaster


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