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mutLBSgeneDB |
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| Gene summary for MRPL40 |
 Gene summary |
| Basic gene Info. | Gene symbol | MRPL40 |
| Gene name | mitochondrial ribosomal protein L40 | |
| Synonyms | MRP-L22|MRPL22|NLVCF|URIM | |
| Cytomap | UCSC genome browser: 22q11.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_003776.2, | |
| Description | 39S ribosomal protein L40, mitochondrialL40mtMRP-L40nuclear localization signal containing protein deleted in velocardiofacial syndromenuclear localization signal deleted in velocardiofacial syndromenuclear localization signal-containing protein dele | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 605089 | |
| HGNC : HGNC | ||
| HPRD : 05476 | ||
| Protein | UniProt: Q9NQ50 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_MRPL40 | |
| BioGPS: 64976 | ||
| Pathway | NCI Pathway Interaction Database: MRPL40 | |
| KEGG: MRPL40 | ||
| REACTOME: MRPL40 | ||
| Pathway Commons: MRPL40 | ||
| Context | iHOP: MRPL40 | |
| ligand binding site mutation search in PubMed: MRPL40 | ||
| UCL Cancer Institute: MRPL40 | ||
| 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 MRPL40 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R133 | E132D | BRCA | 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 MRPL40 |
| 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 |
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| 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 | R133 | E132D | -0.9187126 |
| (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 MRPL40 from PDB |
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| Differential gene expression and gene-gene network for MRPL40 |
| 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 MRPL40 |
| 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 MRPL40 |
| 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. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of MRPL40 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of MRPL40 |
| Multiple alignments for Q9NQ50 in multiple species |
| LBS | AA sequence | # species | Species | K125 | KWSLYKQQERK | 1 | Homo sapiens | K125 | RWALFKQQEHE | 1 | Mus musculus | K125 | RWALYKQQEHE | 1 | Rattus norvegicus | Q126 | WSLYKQQERKM | 1 | Homo sapiens | Q126 | WALFKQQEHEM | 1 | Mus musculus | Q126 | WALYKQQEHEM | 1 | Rattus norvegicus | R129 | YKQQERKMERD | 1 | Homo sapiens | R129 | FKQQEHEMERD | 1 | Mus musculus | R129 | YKQQEHEMERD | 1 | Rattus norvegicus | R133 | ERKMERDTIRA | 1 | Homo sapiens | R133 | EHEMERDAIRS | 1 | Mus musculus | R133 | EHEMERDAIRA | 1 | Rattus norvegicus | S122 | LLKKWSLYKQQ | 1 | Homo sapiens | S122 | LLKRWALFKQQ | 1 | Mus musculus | S122 | LLKRWALYKQQ | 1 | Rattus norvegicus |
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