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mutLBSgeneDB |
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| Gene summary for MRPL49 |
 Gene summary |
| Basic gene Info. | Gene symbol | MRPL49 |
| Gene name | mitochondrial ribosomal protein L49 | |
| Synonyms | C11orf4|L49mt|MRP-L49|NOF|NOF1 | |
| Cytomap | UCSC genome browser: 11q13 | |
| Type of gene | protein-coding | |
| RefGenes | NM_004927.3, NR_037567.1,NR_037568.1, | |
| Description | 39S ribosomal protein L49, mitochondrialneighbor of FAUnext to FAU | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 606866 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000149792 | ||
| HPRD : 06037 | ||
| Vega : OTTHUMG00000165608 | ||
| Protein | UniProt: Q13405 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_MRPL49 | |
| BioGPS: 740 | ||
| Pathway | NCI Pathway Interaction Database: MRPL49 | |
| KEGG: MRPL49 | ||
| REACTOME: MRPL49 | ||
| Pathway Commons: MRPL49 | ||
| Context | iHOP: MRPL49 | |
| ligand binding site mutation search in PubMed: MRPL49 | ||
| UCL Cancer Institute: MRPL49 | ||
| 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 MRPL49 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | Y97 | V96I | UCEC | 2 | R111 | R111Q | STAD | 1 | Y97 | V96I | 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 MRPL49 |
| 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 | Y97 | V96I | -1.6063798 | R111 | R111Q | -1.5281398 |
| (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 MRPL49 from PDB |
| PDB ID | PDB title | PDB structure | 3J9M | Structure of the human mitochondrial ribosome (class 1) |  |
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| Differential gene expression and gene-gene network for MRPL49 |
| 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 MRPL49 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0025202 | Melanoma | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for MRPL49 |
| 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 MRPL49 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 3j7y | g | Y97 R111 |
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| Conservation information for LBS of MRPL49 |
| Multiple alignments for Q13405 in multiple species |
| LBS | AA sequence | # species | Species | G103 | KDITHGNRQMT | 1 | Homo sapiens | G103 | KEITHGNRQMT | 1 | Mus musculus | G103 | RDITHGNRQMT | 1 | Bos taurus | H102 | YKDITHGNRQM | 1 | Homo sapiens | H102 | YKEITHGNRQM | 1 | Mus musculus | H102 | YRDITHGNRQM | 1 | Bos taurus | I100 | PVYKDITHGNR | 1 | Homo sapiens | I100 | PVYKEITHGNR | 1 | Mus musculus | I100 | PVYRDITHGNR | 1 | Bos taurus | K112 | MTVIRKVEGDI | 2 | Homo sapiens, Bos taurus | K112 | MTLIRKVEGDI | 1 | Mus musculus | K150 | GTLRIKGYFDQ | 2 | Homo sapiens, Bos taurus | K150 | GTLRIKGYFDE | 1 | Mus musculus | K98 | NIPVYKDITHG | 1 | Homo sapiens | K98 | NIPVYKEITHG | 1 | Mus musculus | K98 | NIPVYRDITHG | 1 | Bos taurus | M91 | VRRSRMHNIPV | 3 | Homo sapiens, Mus musculus, Bos taurus | N104 | DITHGNRQMTV | 2 | Homo sapiens, Bos taurus | N104 | EITHGNRQMTL | 1 | Mus musculus | N93 | RSRMHNIPVYK | 2 | Homo sapiens, Mus musculus | N93 | RSRMHNIPVYR | 1 | Bos taurus | R105 | ITHGNRQMTVI | 2 | Homo sapiens, Bos taurus | R105 | ITHGNRQMTLI | 1 | Mus musculus | R111 | QMTVIRKVEGD | 2 | Homo sapiens, Bos taurus | R111 | QMTLIRKVEGD | 1 | Mus musculus | R90 | FVRRSRMHNIP | 3 | Homo sapiens, Mus musculus, Bos taurus | S89 | YFVRRSRMHNI | 3 | Homo sapiens, Mus musculus, Bos taurus | T101 | VYKDITHGNRQ | 1 | Homo sapiens | T101 | VYKEITHGNRQ | 1 | Mus musculus | T101 | VYRDITHGNRQ | 1 | Bos taurus | T144 | QVNEVTGTLRI | 3 | Homo sapiens, Mus musculus, Bos taurus | Y97 | HNIPVYKDITH | 1 | Homo sapiens | Y97 | HNIPVYKEITH | 1 | Mus musculus | Y97 | HNIPVYRDITH | 1 | Bos taurus |
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