mutLBSgeneDB |
Gene summary for C9orf114 |
Gene summary |
Basic gene Info. | Gene symbol | C9orf114 |
Gene name | chromosome 9 open reading frame 114 | |
Synonyms | CENP-32|HSPC109 | |
Cytomap | UCSC genome browser: 9q34.11 | |
Type of gene | protein-coding | |
RefGenes | NM_016390.3, | |
Description | centromere protein 32putative methyltransferase C9orf114 | |
Modification date | 20141207 | |
dbXrefs | HGNC : HGNC | |
Ensembl : ENSG00000198917 | ||
HPRD : 12935 | ||
Vega : OTTHUMG00000020762 | ||
Protein | UniProt: Q5T280 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_C9orf114 | |
BioGPS: 51490 | ||
Pathway | NCI Pathway Interaction Database: C9orf114 | |
KEGG: C9orf114 | ||
REACTOME: C9orf114 | ||
Pathway Commons: C9orf114 | ||
Context | iHOP: C9orf114 | |
ligand binding site mutation search in PubMed: C9orf114 | ||
UCL Cancer Institute: C9orf114 | ||
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 |
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Ligand binding site mutations for C9orf114 |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | R292 | G293C | KIRC | 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 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. |
LBS | AAchange of nsSNV | Relative stability change | R292 | G293C | -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) |
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Phenotype information for C9orf114 |
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 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 status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of C9orf114 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | SAH | S-ADENOSYL-L-HOMOCYSTEINE | 4rg1 | A | R292 | SAH | S-ADENOSYL-L-HOMOCYSTEINE | 4rg1 | B | R292 |
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Conservation information for LBS of C9orf114 |
Multiple alignments for Q5T280 in multiple species |
LBS | AA sequence | # species | Species | A356 | IRTEEAILISL | 2 | Homo sapiens, Mus musculus | A356 | ERVEENVLSVL | 1 | Caenorhabditis elegans | E291 | TIGTSERGS-- | 2 | Homo sapiens, Mus musculus | E291 | VAGVSPRGKLA | 1 | Caenorhabditis elegans | F311 | HALVVFGGLQG | 2 | Homo sapiens, Mus musculus | F311 | --LLVFGGVAG | 1 | Caenorhabditis elegans | G312 | ALVVFGGLQGL | 2 | Homo sapiens, Mus musculus | G312 | -LLVFGGVAGV | 1 | Caenorhabditis elegans | G313 | LVVFGGLQGLE | 2 | Homo sapiens, Mus musculus | G313 | LLVFGGVAGVD | 1 | Caenorhabditis elegans | G316 | FGGLQGLEAGA | 1 | Homo sapiens | G316 | FGGVAGVDAAV | 1 | Caenorhabditis elegans | G316 | FGGLQGLEAAV | 1 | Mus musculus | I351 | QGSRTIRTEEA | 2 | Homo sapiens, Mus musculus | I351 | NGSRSERVEEN | 1 | Caenorhabditis elegans | L314 | VVFGGLQGLEA | 2 | Homo sapiens, Mus musculus | L314 | LVFGGVAGVDA | 1 | Caenorhabditis elegans | N341 | DLYV-NTCPGQ | 1 | Homo sapiens | N341 | DVLIRTTSLSN | 1 | Caenorhabditis elegans | N341 | DFYV-NTCLSQ | 1 | Mus musculus | Q346 | NTCPGQGSRTI | 1 | Homo sapiens | Q346 | TTSLSNGSRSE | 1 | Caenorhabditis elegans | Q346 | NTCLSQGSRTI | 1 | Mus musculus | R292 | IGTSERGS--- | 2 | Homo sapiens, Mus musculus | R292 | AGVSPRGKLAS | 1 | Caenorhabditis elegans | S290 | LTIGTSERGS- | 2 | Homo sapiens, Mus musculus | S290 | IVAGVSPRGKL | 1 | Caenorhabditis elegans | T289 | DLTIGTSERGS | 2 | Homo sapiens, Mus musculus | T289 | DIVAGVSPRGK | 1 | Caenorhabditis elegans | T342 | LYV-NTCPGQG | 1 | Homo sapiens | T342 | VLIRTTSLSNG | 1 | Caenorhabditis elegans | T342 | FYV-NTCLSQG | 1 | Mus musculus | T353 | SRTIRTEEAIL | 2 | Homo sapiens, Mus musculus | T353 | SRSERVEENVL | 1 | Caenorhabditis elegans | V340 | LFDLYV-NTCP | 1 | Homo sapiens | V340 | AFDVLIRTTSL | 1 | Caenorhabditis elegans | V340 | LFDFYV-NTCL | 1 | Mus musculus |
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