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mutLBSgeneDB |
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| Gene summary for MRPL27 |
 Gene summary |
| Basic gene Info. | Gene symbol | MRPL27 |
| Gene name | mitochondrial ribosomal protein L27 | |
| Synonyms | L27mt | |
| Cytomap | UCSC genome browser: 17q21.3-q22 | |
| Type of gene | protein-coding | |
| RefGenes | NM_016504.2, NM_148570.1,NM_148571.1, | |
| Description | 39S ribosomal protein L27, mitochondrialMRP-L27 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 611837 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000108826 | ||
| HPRD : 14750 | ||
| Vega : OTTHUMG00000162062 | ||
| Protein | UniProt: Q9P0M9 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_MRPL27 | |
| BioGPS: 51264 | ||
| Pathway | NCI Pathway Interaction Database: MRPL27 | |
| KEGG: MRPL27 | ||
| REACTOME: MRPL27 | ||
| Pathway Commons: MRPL27 | ||
| Context | iHOP: MRPL27 | |
| ligand binding site mutation search in PubMed: MRPL27 | ||
| UCL Cancer Institute: MRPL27 | ||
| 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 MRPL27 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R71 | R71L | 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 MRPL27 |
| 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 | R71 | R71L | -0.81752117 |
| (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 MRPL27 from PDB |
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| Differential gene expression and gene-gene network for MRPL27 |
| 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 MRPL27 |
| 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 MRPL27 |
| 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 MRPL27 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 3j7y | W | R71 |
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| Conservation information for LBS of MRPL27 |
| Multiple alignments for Q9P0M9 in multiple species |
| LBS | AA sequence | # species | Species | A63 | GHYVHAGNIIA | 1 | Homo sapiens | A63 | GHYVHAGNILG | 1 | Mus musculus | A63 | GHYVHAGNILA | 1 | Bos taurus | C88 | VGKNKCLYALE | 1 | Homo sapiens | C88 | LGRNKCLYALE | 1 | Mus musculus | C88 | LGKNKCLYALE | 1 | Bos taurus | E57 | GIKKMEGHYVH | 2 | Homo sapiens, Mus musculus | E57 | GIRKMEGHYVH | 1 | Bos taurus | G43 | SSKNLGGKSSG | 1 | Homo sapiens | G43 | SSKNLGGKSRG | 1 | Mus musculus | G43 | SSKNLGGKSPG | 1 | Bos taurus | G44 | SKNLGGKSSGR | 1 | Homo sapiens | G44 | SKNLGGKSRGK | 1 | Mus musculus | G44 | SKNLGGKSPGK | 1 | Bos taurus | G48 | GGKSSGRRQGI | 1 | Homo sapiens | G48 | GGKSRGKHYGI | 1 | Mus musculus | G48 | GGKSPGKRFGI | 1 | Bos taurus | G64 | HYVHAGNIIAT | 1 | Homo sapiens | G64 | HYVHAGNILGT | 1 | Mus musculus | G64 | HYVHAGNILAT | 1 | Bos taurus | G84 | AHVGVGKNKCL | 1 | Homo sapiens | G84 | AHVGLGRNKCL | 1 | Mus musculus | G84 | AHVGLGKNKCL | 1 | Bos taurus | H59 | KKMEGHYVHAG | 2 | Homo sapiens, Mus musculus | H59 | RKMEGHYVHAG | 1 | Bos taurus | I53 | GRRQGIKKMEG | 1 | Homo sapiens | I53 | GKHYGIKKMEG | 1 | Mus musculus | I53 | GKRFGIRKMEG | 1 | Bos taurus | I66 | VHAGNIIATQR | 1 | Homo sapiens | I66 | VHAGNILGTQR | 1 | Mus musculus | I66 | VHAGNILATQR | 1 | Bos taurus | K101 | IVRYTKEVYVP | 1 | Homo sapiens | K101 | IVRYTKDVYVP | 1 | Mus musculus | K101 | VVRYTKEVYVP | 1 | Bos taurus | K45 | KNLGGKSSGRR | 1 | Homo sapiens | K45 | KNLGGKSRGKH | 1 | Mus musculus | K45 | KNLGGKSPGKR | 1 | Bos taurus | K54 | RRQGIKKMEGH | 1 | Homo sapiens | K54 | KHYGIKKMEGH | 1 | Mus musculus | K54 | KRFGIRKMEGH | 1 | Bos taurus | K85 | HVGVGKNKCLY | 1 | Homo sapiens | K85 | HVGLGRNKCLY | 1 | Mus musculus | K85 | HVGLGKNKCLY | 1 | Bos taurus | L42 | GSSKNLGGKSS | 1 | Homo sapiens | L42 | GSSKNLGGKSR | 1 | Mus musculus | L42 | GSSKNLGGKSP | 1 | Bos taurus | M56 | QGIKKMEGHYV | 1 | Homo sapiens | M56 | YGIKKMEGHYV | 1 | Mus musculus | M56 | FGIRKMEGHYV | 1 | Bos taurus | N65 | YVHAGNIIATQ | 1 | Homo sapiens | N65 | YVHAGNILGTQ | 1 | Mus musculus | N65 | YVHAGNILATQ | 1 | Bos taurus | N86 | VGVGKNKCLYA | 1 | Homo sapiens | N86 | VGLGRNKCLYA | 1 | Mus musculus | N86 | VGLGKNKCLYA | 1 | Bos taurus | Q51 | SSGRRQGIKKM | 1 | Homo sapiens | Q51 | SRGKHYGIKKM | 1 | Mus musculus | Q51 | SPGKRFGIRKM | 1 | Bos taurus | R49 | GKSSGRRQGIK | 1 | Homo sapiens | R49 | GKSRGKHYGIK | 1 | Mus musculus | R49 | GKSPGKRFGIR | 1 | Bos taurus | R50 | KSSGRRQGIKK | 1 | Homo sapiens | R50 | KSRGKHYGIKK | 1 | Mus musculus | R50 | KSPGKRFGIRK | 1 | Bos taurus | R71 | IIATQRHFRWH | 1 | Homo sapiens | R71 | ILGTQRQFRWH | 1 | Mus musculus | R71 | ILATQRHFRWH | 1 | Bos taurus | R74 | TQRHFRWHPGA | 2 | Homo sapiens, Bos taurus | R74 | TQRQFRWHPGA | 1 | Mus musculus | S46 | NLGGKSSGRRQ | 1 | Homo sapiens | S46 | NLGGKSRGKHY | 1 | Mus musculus | S46 | NLGGKSPGKRF | 1 | Bos taurus | S47 | LGGKSSGRRQG | 1 | Homo sapiens | S47 | LGGKSRGKHYG | 1 | Mus musculus | S47 | LGGKSPGKRFG | 1 | Bos taurus | W75 | QRHFRWHPGAH | 2 | Homo sapiens, Bos taurus | W75 | QRQFRWHPGAH | 1 | Mus musculus | Y90 | KNKCLYALEEG | 2 | Homo sapiens, Bos taurus | Y90 | RNKCLYALEEG | 1 | Mus musculus | Y99 | EGIVRYTKEVY | 1 | Homo sapiens | Y99 | EGIVRYTKDVY | 1 | Mus musculus | Y99 | EGVVRYTKEVY | 1 | Bos taurus |
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