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 C9orf114
Gene summary
Basic gene Info.Gene symbolC9orf114
Gene namechromosome 9 open reading frame 114
SynonymsCENP-32|HSPC109
CytomapUCSC genome browser: 9q34.11
Type of geneprotein-coding
RefGenesNM_016390.3,
Descriptioncentromere protein 32putative methyltransferase C9orf114
Modification date20141207
dbXrefs HGNC : HGNC
Ensembl : ENSG00000198917
HPRD : 12935
Vega : OTTHUMG00000020762
ProteinUniProt: Q5T280
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_C9orf114
BioGPS: 51490
PathwayNCI Pathway Interaction Database: C9orf114
KEGG: C9orf114
REACTOME: C9orf114
Pathway Commons: C9orf114
ContextiHOP: C9orf114
ligand binding site mutation search in PubMed: C9orf114
UCL Cancer Institute: C9orf114
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 C9orf114

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
R292G293CKIRC1
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 C9orf114
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
R292G293C-0.43386935
(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 C9orf114 from PDB

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Differential gene expression and gene-gene network for C9orf114
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 C9orf114 and the right PPI network was created from samples without mutations in the LBS of C9orf114. 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 C9orf114
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 C9orf114
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 C9orf114 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
SAHS-ADENOSYL-L-HOMOCYSTEINE4rg1AR292
SAHS-ADENOSYL-L-HOMOCYSTEINE4rg1BR292


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Conservation information for LBS of C9orf114
Multiple alignments for Q5T280 in multiple species
LBSAA sequence# speciesSpecies
A356IRTEEAILISL2Homo sapiens, Mus musculus
A356ERVEENVLSVL1Caenorhabditis elegans
E291TIGTSERGS--2Homo sapiens, Mus musculus
E291VAGVSPRGKLA1Caenorhabditis elegans
F311HALVVFGGLQG2Homo sapiens, Mus musculus
F311--LLVFGGVAG1Caenorhabditis elegans
G312ALVVFGGLQGL2Homo sapiens, Mus musculus
G312-LLVFGGVAGV1Caenorhabditis elegans
G313LVVFGGLQGLE2Homo sapiens, Mus musculus
G313LLVFGGVAGVD1Caenorhabditis elegans
G316FGGLQGLEAGA1Homo sapiens
G316FGGVAGVDAAV1Caenorhabditis elegans
G316FGGLQGLEAAV1Mus musculus
I351QGSRTIRTEEA2Homo sapiens, Mus musculus
I351NGSRSERVEEN1Caenorhabditis elegans
L314VVFGGLQGLEA2Homo sapiens, Mus musculus
L314LVFGGVAGVDA1Caenorhabditis elegans
N341DLYV-NTCPGQ1Homo sapiens
N341DVLIRTTSLSN1Caenorhabditis elegans
N341DFYV-NTCLSQ1Mus musculus
Q346NTCPGQGSRTI1Homo sapiens
Q346TTSLSNGSRSE1Caenorhabditis elegans
Q346NTCLSQGSRTI1Mus musculus
R292IGTSERGS---2Homo sapiens, Mus musculus
R292AGVSPRGKLAS1Caenorhabditis elegans
S290LTIGTSERGS-2Homo sapiens, Mus musculus
S290IVAGVSPRGKL1Caenorhabditis elegans
T289DLTIGTSERGS2Homo sapiens, Mus musculus
T289DIVAGVSPRGK1Caenorhabditis elegans
T342LYV-NTCPGQG1Homo sapiens
T342VLIRTTSLSNG1Caenorhabditis elegans
T342FYV-NTCLSQG1Mus musculus
T353SRTIRTEEAIL2Homo sapiens, Mus musculus
T353SRSERVEENVL1Caenorhabditis elegans
V340LFDLYV-NTCP1Homo sapiens
V340AFDVLIRTTSL1Caenorhabditis elegans
V340LFDFYV-NTCL1Mus musculus


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