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mutLBSgeneDB |
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| Gene summary for MRPL24 |
 Gene summary |
| Basic gene Info. | Gene symbol | MRPL24 |
| Gene name | mitochondrial ribosomal protein L24 | |
| Synonyms | L24mt|MRP-L18|MRP-L24 | |
| Cytomap | UCSC genome browser: 1q23.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_024540.3, NM_145729.2, | |
| Description | 39S ribosomal protein L24, mitochondrial | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 611836 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000143314 | ||
| HPRD : 14749 | ||
| Vega : OTTHUMG00000041296 | ||
| Protein | UniProt: Q96A35 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_MRPL24 | |
| BioGPS: 79590 | ||
| Pathway | NCI Pathway Interaction Database: MRPL24 | |
| KEGG: MRPL24 | ||
| REACTOME: MRPL24 | ||
| Pathway Commons: MRPL24 | ||
| Context | iHOP: MRPL24 | |
| ligand binding site mutation search in PubMed: MRPL24 | ||
| UCL Cancer Institute: MRPL24 | ||
| 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 MRPL24 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | K34 | K34N | UCEC | 1 | R42 | R42C | 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 MRPL24 |
| 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 | R42 | R42C | -1.1144377 | K34 | K34N | -0.78468119 |
| (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 MRPL24 from PDB |
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| Differential gene expression and gene-gene network for MRPL24 |
| 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 MRPL24 |
| 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 MRPL24 |
| 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 MRPL24 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 3j7y | V | K34 R42 |
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| Conservation information for LBS of MRPL24 |
| Multiple alignments for Q96A35 in multiple species |
| LBS | AA sequence | # species | Species | A113 | MIPSEAPL--L | 2 | Homo sapiens, Rattus norvegicus | A113 | LRWQEQPLSVS | 1 | Caenorhabditis elegans | A113 | IIKSEAPLH-V | 1 | Drosophila melanogaster | A113 | YLASEAPL--L | 1 | Danio rerio | A113 | MVPSEAPL--L | 1 | Bos taurus | A113 | MIASEAPL--L | 1 | Mus musculus | A30 | ----IADKRKN | 2 | Mus musculus, Rattus norvegicus | A30 | ----VADKRKN | 1 | Homo sapiens | A30 | SDKYFSAQLSN | 1 | Caenorhabditis elegans | A30 | ----GQFRQQN | 1 | Drosophila melanogaster | A30 | ----IAARRLN | 1 | Danio rerio | A30 | ----LADKKKN | 1 | Bos taurus | G22 | ---RYGMS--- | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | G22 | ---RFGAPDIK | 1 | Caenorhabditis elegans | G22 | KRFRYTTN--- | 1 | Drosophila melanogaster | G22 | ---RYGTN--- | 1 | Danio rerio | H18 | ---PPHY---- | 1 | Homo sapiens | H18 | RHMPSAYVERT | 1 | Caenorhabditis elegans | H18 | ---PKEYIERS | 1 | Drosophila melanogaster | H18 | ---PHGY---- | 1 | Danio rerio | H18 | ---PPNY---- | 1 | Bos taurus | H18 | ---SPFY---- | 1 | Mus musculus | H18 | ---SPHY---- | 1 | Rattus norvegicus | H94 | EGLNTHYRYVG | 2 | Danio rerio, Bos taurus | H94 | EGLNTHYRYIG | 2 | Mus musculus, Rattus norvegicus | H94 | GGLNTHYRYIG | 1 | Homo sapiens | H94 | DGLHTKLGEDM | 1 | Caenorhabditis elegans | H94 | EGLNWHYRKVG | 1 | Drosophila melanogaster | K34 | IADKRKNPPWS | 2 | Mus musculus, Rattus norvegicus | K34 | VADKRKNPPWI | 1 | Homo sapiens | K34 | FSAQLSNQYFN | 1 | Caenorhabditis elegans | K34 | GQFRQQNMPGT | 1 | Drosophila melanogaster | K34 | IAARRLNPPGK | 1 | Danio rerio | K34 | LADKKKNPPGT | 1 | Bos taurus | M23 | --RYGMS---- | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | M23 | --RFGAPDIKM | 1 | Caenorhabditis elegans | M23 | RFRYTTN---- | 1 | Drosophila melanogaster | M23 | --RYGTN---- | 1 | Danio rerio | R20 | -----RYGMS- | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | R20 | -----RFGAPD | 1 | Caenorhabditis elegans | R20 | ERKRFRYTTN- | 1 | Drosophila melanogaster | R20 | -----RYGTN- | 1 | Danio rerio | R33 | -IADKRKNPPW | 2 | Mus musculus, Rattus norvegicus | R33 | -VADKRKNPPW | 1 | Homo sapiens | R33 | YFSAQLSNQYF | 1 | Caenorhabditis elegans | R33 | -GQFRQQNMPG | 1 | Drosophila melanogaster | R33 | -IAARRLNPPG | 1 | Danio rerio | R33 | -LADKKKNPPG | 1 | Bos taurus | R40 | NPPWSRRRPVV | 2 | Mus musculus, Rattus norvegicus | R40 | NPPWIRRRPVV | 1 | Homo sapiens | R40 | NQYFNLRRPKS | 1 | Caenorhabditis elegans | R40 | NMPGTVRRKVL | 1 | Drosophila melanogaster | R40 | NPPGKRRRKVF | 1 | Danio rerio | R40 | NPPGTRRRRVA | 1 | Bos taurus | R41 | PPWSRRRPVVV | 2 | Mus musculus, Rattus norvegicus | R41 | PPWIRRRPVVV | 1 | Homo sapiens | R41 | QYFNLRRPKS- | 1 | Caenorhabditis elegans | R41 | MPGTVRRKVLV | 1 | Drosophila melanogaster | R41 | PPGKRRRKVFV | 1 | Danio rerio | R41 | PPGTRRRRVAV | 1 | Bos taurus | R42 | PWSRRRPVVVE | 2 | Mus musculus, Rattus norvegicus | R42 | PWIRRRPVVVE | 1 | Homo sapiens | R42 | YFNLRRPKS-E | 1 | Caenorhabditis elegans | R42 | PGTVRRKVLVE | 1 | Drosophila melanogaster | R42 | PGKRRRKVFVE | 1 | Danio rerio | R42 | PGTRRRRVAVE | 1 | Bos taurus | R83 | QVIRQRNWVVV | 2 | Homo sapiens, Bos taurus | R83 | QVVRQRNWVVL | 2 | Mus musculus, Rattus norvegicus | R83 | TTSRDSSDVIV | 1 | Caenorhabditis elegans | R83 | QVIPERNWVIV | 1 | Drosophila melanogaster | R83 | QVIRARNWVIL | 1 | Danio rerio | R96 | LNTHYRYIGRT | 2 | Mus musculus, Rattus norvegicus | R96 | LNTHYRYIGKT | 1 | Homo sapiens | R96 | LHTKLGEDMEG | 1 | Caenorhabditis elegans | R96 | LNWHYRKVGGE | 1 | Drosophila melanogaster | R96 | LNTHYRYVGRS | 1 | Danio rerio | R96 | LNTHYRYVGKT | 1 | Bos taurus | S111 | -TMIPSEAPL- | 2 | Homo sapiens, Rattus norvegicus | S111 | KTLRWQEQPLS | 1 | Caenorhabditis elegans | S111 | -IIIKSEAPLH | 1 | Drosophila melanogaster | S111 | -TYLASEAPL- | 1 | Danio rerio | S111 | -TMVPSEAPL- | 1 | Bos taurus | S111 | -TMIASEAPL- | 1 | Mus musculus | S24 | -RYGMS----- | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | S24 | -RFGAPDIKMY | 1 | Caenorhabditis elegans | S24 | FRYTTN----- | 1 | Drosophila melanogaster | S24 | -RYGTN----- | 1 | Danio rerio | W85 | VRQRNWVVLEG | 2 | Mus musculus, Rattus norvegicus | W85 | IRQRNWVVVGG | 1 | Homo sapiens | W85 | SRDSSDVIVDG | 1 | Caenorhabditis elegans | W85 | IPERNWVIVEG | 1 | Drosophila melanogaster | W85 | IRARNWVILEG | 1 | Danio rerio | W85 | IRQRNWVVVEG | 1 | Bos taurus |
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