mutLBSgeneDB |
Gene summary for C11orf54 |
Gene summary |
Basic gene Info. | Gene symbol | C11orf54 |
Gene name | chromosome 11 open reading frame 54 | |
Synonyms | PTD012|PTOD012 | |
Cytomap | UCSC genome browser: 11q21 | |
Type of gene | protein-coding | |
RefGenes | NM_001286067.1, NM_001286068.1,NM_001286069.1,NM_001286070.1,NM_001286071.1, NM_014039.3, | |
Description | ester hydrolase C11orf54 | |
Modification date | 20141207 | |
dbXrefs | MIM : 615810 | |
HGNC : HGNC | ||
Ensembl : ENSG00000182919 | ||
HPRD : 17923 | ||
Vega : OTTHUMG00000167452 | ||
Protein | UniProt: Q9H0W9 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_C11orf54 | |
BioGPS: 28970 | ||
Pathway | NCI Pathway Interaction Database: C11orf54 | |
KEGG: C11orf54 | ||
REACTOME: C11orf54 | ||
Pathway Commons: C11orf54 | ||
Context | iHOP: C11orf54 | |
ligand binding site mutation search in PubMed: C11orf54 | ||
UCL Cancer Institute: C11orf54 | ||
Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. |
Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
GO ID | GO Term | PubMed ID | GO:0008152 | metabolic process | 16522806 |
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Ligand binding site mutations for C11orf54 |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | G98 | A97V | UCEC | 1 |
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 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. |
LBS | AAchange of nsSNV | Relative stability change | G98 | A97V | -0.19281369 |
(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 |
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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) |
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Phenotype information for C11orf54 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for C11orf54 |
Drug information targeting mutLBSgene (Approved drugs only) |
Drug status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of C11orf54 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ACY | ACETIC ACID | 1xcr | A | G98 | ACY | ACETIC ACID | 1xcr | B | G98 |
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Conservation information for LBS of C11orf54 |
Multiple alignments for Q9H0W9 in multiple species |
LBS | AA sequence | # species | Species | A99 | ILGAGAGPFQT | 1 | Homo sapiens | A99 | ILGAGAISFKT | 1 | Danio rerio | A99 | ILGAGATSHKS | 1 | Xenopus tropicalis | E110 | LGFNSEFMPVI | 1 | Homo sapiens | E110 | AGINGELMPLV | 1 | Danio rerio | E110 | LGMNAELIFSV | 1 | Xenopus tropicalis | G98 | FILGAGAGPFQ | 1 | Homo sapiens | G98 | FILGAGAISFK | 1 | Danio rerio | G98 | YILGAGATSHK | 1 | Xenopus tropicalis | H266 | DLRLEHTHFFS | 1 | Homo sapiens | H266 | DLRVEHTHGFS | 1 | Danio rerio | H266 | DLRLEHTHCFS | 1 | Xenopus tropicalis | H268 | RLEHTHFFSRH | 1 | Homo sapiens | H268 | RVEHTHGFSHH | 1 | Danio rerio | H268 | RLEHTHCFSHH | 1 | Xenopus tropicalis | H278 | HGEGGHYHYDT | 2 | Homo sapiens, Xenopus tropicalis | H278 | HGEGGHYYTDT | 1 | Danio rerio | L157 | FQCALLANLFA | 1 | Homo sapiens | L157 | CDFGLLANLYA | 1 | Danio rerio | L157 | NDFGLLSNLYA | 1 | Xenopus tropicalis | M219 | VKSHIMPAEFS | 1 | Homo sapiens | M219 | AKIHIMPREFS | 1 | Danio rerio | M219 | AKLHVMPREYS | 1 | Xenopus tropicalis |
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