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 C11orf54
Gene summary
Basic gene Info.Gene symbolC11orf54
Gene namechromosome 11 open reading frame 54
CytomapUCSC genome browser: 11q21
Type of geneprotein-coding
Descriptionester hydrolase C11orf54
Modification date20141207
dbXrefs MIM : 615810
Ensembl : ENSG00000182919
HPRD : 17923
Vega : OTTHUMG00000167452
ProteinUniProt: Q9H0W9
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_C11orf54
BioGPS: 28970
PathwayNCI Pathway Interaction Database: C11orf54
KEGG: C11orf54
REACTOME: C11orf54
Pathway Commons: C11orf54
ContextiHOP: C11orf54
ligand binding site mutation search in PubMed: C11orf54
UCL Cancer Institute: C11orf54
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0008152metabolic process16522806

Ligand binding site mutations for C11orf54

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 C11orf54
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 C11orf54 from PDB

Differential gene expression and gene-gene network for C11orf54
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 C11orf54 and the right PPI network was created from samples without mutations in the LBS of C11orf54. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for C11orf54
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

Pharmacological information for C11orf54
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 C11orf54 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of C11orf54
Multiple alignments for Q9H0W9 in multiple species
LBSAA sequence# speciesSpecies
A99ILGAGAGPFQT1Homo sapiens
A99ILGAGAISFKT1Danio rerio
A99ILGAGATSHKS1Xenopus tropicalis
E110LGFNSEFMPVI1Homo sapiens
E110AGINGELMPLV1Danio rerio
E110LGMNAELIFSV1Xenopus tropicalis
G98FILGAGAGPFQ1Homo sapiens
G98FILGAGAISFK1Danio rerio
G98YILGAGATSHK1Xenopus tropicalis
H266DLRLEHTHFFS1Homo sapiens
H266DLRVEHTHGFS1Danio rerio
H266DLRLEHTHCFS1Xenopus tropicalis
H268RLEHTHFFSRH1Homo sapiens
H268RVEHTHGFSHH1Danio rerio
H268RLEHTHCFSHH1Xenopus tropicalis
H278HGEGGHYHYDT2Homo sapiens, Xenopus tropicalis
H278HGEGGHYYTDT1Danio rerio
L157FQCALLANLFA1Homo sapiens
L157CDFGLLANLYA1Danio rerio
L157NDFGLLSNLYA1Xenopus tropicalis
M219VKSHIMPAEFS1Homo sapiens
M219AKIHIMPREFS1Danio rerio
M219AKLHVMPREYS1Xenopus tropicalis

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