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mutLBSgeneDB |
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| Gene summary for MRPL33 |
Gene summary |
| Basic gene Info. | Gene symbol | MRPL33 |
| Gene name | mitochondrial ribosomal protein L33 | |
| Synonyms | C2orf1|L33mt|MRP-L33|RPL33L | |
| Cytomap | UCSC genome browser: 2p21 | |
| Type of gene | protein-coding | |
| RefGenes | NM_004891.3, NM_145330.2, | |
| Description | 39S ribosomal protein L33, mitochondrial | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 610059 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000243147 | ||
| HPRD : 14753 | ||
| Vega : OTTHUMG00000097795 | ||
| Protein | UniProt: O75394 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_MRPL33 | |
| BioGPS: 9553 | ||
| Pathway | NCI Pathway Interaction Database: MRPL33 | |
| KEGG: MRPL33 | ||
| REACTOME: MRPL33 | ||
| Pathway Commons: MRPL33 | ||
| Context | iHOP: MRPL33 | |
| ligand binding site mutation search in PubMed: MRPL33 | ||
| UCL Cancer Institute: MRPL33 | ||
| 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 MRPL33 |
Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R19 | R19T | BLCA | 1 | L41 | L41P | COAD | 1 | R63 | R63C | COAD | 1 | R63 | R63C | STAD | 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 MRPL33 |
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 | R19 | R19T | -1.1796362 | R63 | R63C | -0.79602321 | L41 | L41P | -0.38799245 |
| (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 MRPL33 from PDB |
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| Differential gene expression and gene-gene network for MRPL33 |
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 MRPL33 |
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 MRPL33 |
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 MRPL33 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 3j7y | 1 | R19 L41 R63 |
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| Conservation information for LBS of MRPL33 |
Multiple alignments for O75394 in multiple species |
| LBS | AA sequence | # species | Species | C29 | AGTGFCFNTKR | 1 | Homo sapiens | C29 | AGTGFSFNTKR | 1 | Bos taurus | C29 | AGTGFSFNHKR | 1 | Mus musculus | F30 | GTGFCFNTKRN | 1 | Homo sapiens | F30 | GTGFSFNTKRS | 1 | Bos taurus | F30 | GTGFSFNHKRS | 1 | Mus musculus | H45 | KLTLLHYDPVV | 2 | Homo sapiens, Bos taurus | H45 | KLSLLHYDPIV | 1 | Mus musculus | I62 | VEQKKIRSL | 2 | Bos taurus, Mus musculus | I62 | VEKKKIRSL | 1 | Homo sapiens | K14 | AKSKSKTILVK | 2 | Bos taurus, Mus musculus | K14 | AKSKSKNILVR | 1 | Homo sapiens | L41 | RLREKLTLLHY | 1 | Homo sapiens | L41 | RLWEKLTLLHY | 1 | Bos taurus | L41 | RLREKLSLLHY | 1 | Mus musculus | L43 | REKLTLLHYDP | 1 | Homo sapiens | L43 | WEKLTLLHYDP | 1 | Bos taurus | L43 | REKLSLLHYDP | 1 | Mus musculus | L44 | EKLTLLHYDPV | 2 | Homo sapiens, Bos taurus | L44 | EKLSLLHYDPI | 1 | Mus musculus | N15 | KSKSKNILVRM | 1 | Homo sapiens | N15 | KSKSKTILVKM | 1 | Bos taurus | N15 | KSKSKTILVKL | 1 | Mus musculus | N31 | TGFCFNTKRNR | 1 | Homo sapiens | N31 | TGFSFNTKRSR | 1 | Bos taurus | N31 | TGFSFNHKRSR | 1 | Mus musculus | R19 | KNILVRMVSEA | 1 | Homo sapiens | R19 | KTILVKMVSQA | 1 | Bos taurus | R19 | KTILVKLVSQA | 1 | Mus musculus | R53 | PVVKQRVLFVE | 1 | Homo sapiens | R53 | PVVKKKVLFVE | 1 | Bos taurus | R53 | PIVNKKVLFVE | 1 | Mus musculus | R63 | EQKKIRSL | 2 | Bos taurus, Mus musculus | R63 | EKKKIRSL | 1 | Homo sapiens | T32 | GFCFNTKRNRL | 1 | Homo sapiens | T32 | GFSFNTKRSRL | 1 | Bos taurus | T32 | GFSFNHKRSRL | 1 | Mus musculus | Y46 | LTLLHYDPVVK | 2 | Homo sapiens, Bos taurus | Y46 | LSLLHYDPIVN | 1 | Mus musculus |
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