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mutLBSgeneDB |
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| Gene summary for MRPL44 |
 Gene summary |
| Basic gene Info. | Gene symbol | MRPL44 |
| Gene name | mitochondrial ribosomal protein L44 | |
| Synonyms | COXPD16|L44MT|MRP-L44 | |
| Cytomap | UCSC genome browser: 2q36.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_022915.3, | |
| Description | 39S ribosomal protein L44, mitochondrial | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 611849 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000135900 | ||
| HPRD : 14763 | ||
| Vega : OTTHUMG00000133164 | ||
| Protein | UniProt: Q9H9J2 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_MRPL44 | |
| BioGPS: 65080 | ||
| Pathway | NCI Pathway Interaction Database: MRPL44 | |
| KEGG: MRPL44 | ||
| REACTOME: MRPL44 | ||
| Pathway Commons: MRPL44 | ||
| Context | iHOP: MRPL44 | |
| ligand binding site mutation search in PubMed: MRPL44 | ||
| UCL Cancer Institute: MRPL44 | ||
| 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 MRPL44 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | K33 | K33R | COAD | 1 | R49 | R49L | LUSC | 1 | R36 | R36C | SKCM | 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 MRPL44 |
| 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 | R36 | R36C | -0.35063789 | R49 | R49L | -0.29927316 | K33 | K33R | -0.20973794 |
| (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 MRPL44 from PDB |
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| Differential gene expression and gene-gene network for MRPL44 |
| 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 MRPL44 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C3809339 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16 | 1 | GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for MRPL44 |
| 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 MRPL44 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 3j7y | c | K33 R36 R49 |
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| Conservation information for LBS of MRPL44 |
| Multiple alignments for Q9H9J2 in multiple species |
| LBS | AA sequence | # species | Species | F35 | GVKKGFRAAFR | 3 | Homo sapiens, Mus musculus, Bos taurus | F39 | GFRAAFRFQKE | 3 | Homo sapiens, Mus musculus, Bos taurus | G34 | RGVKKGFRAAF | 3 | Homo sapiens, Mus musculus, Bos taurus | K33 | VRGVKKGFRAA | 3 | Homo sapiens, Mus musculus, Bos taurus | L45 | RFQKELERWRL | 2 | Mus musculus, Bos taurus | L45 | RFQKELERQRL | 1 | Homo sapiens | Q48 | KELERWRLLRC | 2 | Mus musculus, Bos taurus | Q48 | KELERQRLLRC | 1 | Homo sapiens | R36 | VKKGFRAAFRF | 3 | Homo sapiens, Mus musculus, Bos taurus | R49 | ELERWRLLRCP | 2 | Mus musculus, Bos taurus | R49 | ELERQRLLRCP | 1 | Homo sapiens | R52 | RWRLLRCPPPP | 2 | Mus musculus, Bos taurus | R52 | RQRLLRCPPPP | 1 | Homo sapiens | V31 | PPVRGVKKGFR | 3 | Homo sapiens, Mus musculus, Bos taurus |
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