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Translation Factor: MRPL44 (NCBI Gene ID:65080) |
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Gene Summary |
Gene Information | Gene Name: MRPL44 | Gene ID: 65080 | Gene Symbol | MRPL44 | Gene ID | 65080 |
Gene Name | mitochondrial ribosomal protein L44 | |
Synonyms | COXPD16|L44MT|MRP-L44 | |
Cytomap | 2q36.1 | |
Type of Gene | protein-coding | |
Description | 39S ribosomal protein L44, mitochondrialmitochondrial large ribosomal subunit protein mL44 | |
Modification date | 20200313 | |
UniProtAcc | Q9H9J2 |
Child GO biological process term(s) under GO:0006412 |
GO ID | GO term |
GO:0032543 | Mitochondrial translation |
GO:0005840 | Ribosome |
GO:0006414 | Translational elongation |
GO:0006412 | Translation |
Gene ontology of translaction factor with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Inferred gene age of translation factor. |
Gene | Inferred gene age group among (0 - 67.6], (67.6 - 355.7], (355.7 - 733], (733 - 1119.25], >1119.25 |
MRPL44 | >1119.25 |
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We searched PubMed using 'MRPL44[title] AND translation [title] AND human.' |
Gene | Title | PMID |
MRPL44 | Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect | 34140213 |
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Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. For more annotations, please visit our ExonSkipDB. |
Open reading frame (ORF) analsis of exon skipping events based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ENST | Exon skip start (DNA) | Exon Skip end (DNA) | ORF |
Exon skipping position in the amino acid sequence. |
ENST | Exon skip start (DNA) | Exon Skip end (DNA) | Len(transcript seq) | Exon skip start (mRNA) | Exon Skip end (mRNA) | Len(amino acid seq) | Exon skip start (AA) | Exon Skip end (AA) |
Potentially (partially) lost protein functional features of UniProt. |
UniProtAcc | Exon skip start (AA) | Exon Skip end (AA) | Function feature start (AA) | Function feature end (AA) | Functional feature type | Functional feature desc. |
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Gene expression level across TCGA pancancer |
Gene expression level across GTEx pantissue |
Expression level of gene isoforms across TCGA pancancer |
Expression level of gene isoforms across GTEx pantissue |
Cancer(tissue) type-specific expression level of Translation factor using z-score distriution |
Differential expression between tumor and matched normal (in the cancer types with more than 10 matched samples) |
Cancer type | Translation factor | FC | adj.pval |
LUSC | MRPL44 | -1.0353261138043 | 0.000533204507372277 |
CHOL | MRPL44 | -1.84100898736725 | 0.01171875 |
BRCA | MRPL44 | -2.66444869593332 | 3.06751315169682e-08 |
LUAD | MRPL44 | -3.23791370825974 | 5.91982739853218e-07 |
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Translation factor expression regulation through miRNA binding |
Cancer type | Gene | miRNA | TargetScan binding score (Context++ score percentile) | Coefficient | Pvalue |
Translation factor expression regulation through methylation in the promoter of Translation factor |
Cancer type | Gene | methyl group b | methyl group a | DEG pval | avg methyl in b | avg methyl in a | avg exp in b | avg exp in a |
Translation factor expression regulation through methylation in the gene body of Translation factor (positive regulation) |
Cancer type | Gene | methyl group b | methyl group a | DEG pval | avg methyl in b | avg methyl in a | avg exp in b | avg exp in a |
Translation factor expression regulation through copy number variation of Translation factor |
Cancer type | Gene | Coefficient | Pvalue |
PCPG | MRPL44 | 0.132452783 | 0.004089622 |
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Strongly correlated genes belong to cellular important gene groups with MRPL44 (coefficient>0.8, pval<0.05, node color based on FC between tumor and matched normal). Significantly associated important genes in the individual cancer types. * Cell metabolism gene: cell metabolism genes from REACTOME (black edge), IUPHAR: drug target genes from IUPHAR (blue edge), Kinase: human kinase genes (brown edge), CGC: cancer gene census genes (orange edge), TSG: tumor suppresor genes (purple edge), Epifactor: epigenetic factors (light blue edge), TF: transcription factors (green) |
Cancer type | Gene group | Translation factor | Correlated gene | Coefficient | Pvalue |
GBM | Cell metabolism gene | MRPL44 | PFDN5 | 0.806983237 | 9.88E-41 |
GBM | Cell metabolism gene | MRPL44 | PSMA6 | 0.808208986 | 6.08E-41 |
GBM | Cell metabolism gene | MRPL44 | NME1 | 0.809410537 | 3.76E-41 |
GBM | Cell metabolism gene | MRPL44 | CCT4 | 0.816448773 | 2.12E-42 |
GBM | Cell metabolism gene | MRPL44 | SUCLG1 | 0.882803109 | 1.14E-57 |
GBM | TSG | MRPL44 | NME1 | 0.809410537 | 3.76E-41 |
KICH | Cell metabolism gene | MRPL44 | SUCLG1 | 0.810573311 | 2.16E-22 |
KICH | Cell metabolism gene | MRPL44 | ADI1 | 0.819966148 | 2.79E-23 |
KICH | Cell metabolism gene | MRPL44 | SDHC | 0.820282942 | 2.60E-23 |
KICH | CGC | MRPL44 | SDHC | 0.820282942 | 2.60E-23 |
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Protein 3D structure Visit iCn3D. |
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Protein-protein interaction networks * Overlap between up-regulated DEGs (log2FC<-1 and adj.P<0.05) and STRING PPI network (center: Translation factor, node: DEGs, edges: weighted by -log2(adj.P)) |
Overlap between down-regulated DEGs (log2FC>1 and adj.P<0.05) and STRING PPI network (center: Translation factor, node: DEGs, edges: weighted by -log2(adj.P)) |
* Edge colors based on TCGA cancer types. |
* Overlap between DEGs (log2FC>1 and adj.P<0.05) and STRING PPI network per cancer (center: Translation factor, node: DEGs, node color: log2FC, edges: weighted by -log2(adj.P)) |
Cancer type | Translation factor | Interacting protein coding gene | FC | adj.pval |
BRCA | MRPL44 | MRPL32 | -3.7979134181794 | 0.000134327661287861 |
STAD | MRPL44 | MRPL15 | -2.15546608137429 | 0.000334546435624361 |
LIHC | MRPL44 | MRPL13 | 1.54402472107614 | 0.000655351190157038 |
LUSC | MRPL44 | MRPL39 | -3.50411737429004 | 0.000985010025625636 |
KIRC | MRPL44 | MRPL46 | -7.36081421944909 | 0.0011460554764592 |
LUAD | MRPL44 | MRPL32 | -2.1966239418264 | 0.00121089428940613 |
KIRP | MRPL44 | MRPL46 | -7.17671685013906 | 0.00123529229313135 |
KIRP | MRPL44 | MRPL19 | -1.9689242575519 | 0.00179363833740354 |
ESCA | MRPL44 | MRPL47 | -2.26373711796715 | 0.001953125 |
CHOL | MRPL44 | MRPL46 | -2.73791743817321 | 0.00390625 |
BLCA | MRPL44 | MRPL39 | 1.69896851960452 | 0.00391769409179688 |
LUAD | MRPL44 | MRPL39 | -1.1049452981592 | 0.00471395891927286 |
COAD | MRPL44 | MRPL15 | 1.17181689924568 | 0.00513318181037904 |
KICH | MRPL44 | MRPL19 | -2.18550705564541 | 0.00672554969787598 |
ESCA | MRPL44 | MRPL13 | -1.07746088474995 | 0.0068359375 |
COAD | MRPL44 | MRPL47 | -2.29582381838246 | 0.00863465666770936 |
KICH | MRPL44 | MRPL43 | -2.18179102009894 | 0.00963503122329712 |
STAD | MRPL44 | MRPL47 | -1.4008685687155 | 0.0118026207201183 |
STAD | MRPL44 | MRPL4 | 1.4393539135682 | 0.0279771662317216 |
COAD | MRPL44 | MRPL39 | -1.15285953291756 | 0.0357243716716767 |
KIRC | MRPL44 | MRPL32 | -2.79664327578899 | 0.0376051795400881 |
CHOL | MRPL44 | MRPL19 | -2.09295650388558 | 0.0390625 |
LIHC | MRPL44 | MRPL47 | -6.59586850948538 | 0.0416658979324166 |
KIRC | MRPL44 | MRPL47 | 1.74758475364701 | 1.00533732476669e-06 |
KICH | MRPL44 | MRPL15 | 1.54522142310359 | 1.19209289550781e-07 |
LUSC | MRPL44 | MRPL15 | -4.43702988385305 | 1.91594862886626e-08 |
LIHC | MRPL44 | MRPL32 | -1.20074144698753 | 2.24402029682138e-06 |
COAD | MRPL44 | MRPL4 | 2.77705897514473 | 2.98023223876954e-07 |
LIHC | MRPL44 | MRPL39 | -1.65461683386216 | 3.95799979560965e-08 |
BRCA | MRPL44 | MRPL15 | -3.82448964360727 | 5.49451113259074e-14 |
LUAD | MRPL44 | MRPL47 | -1.74990909879567 | 9.53955602455483e-07 |
Protein-protein interactors with this translation factor (BIOGRID-3.4.160) |
PPI interactors with MRPL44 |
NFKBIL1, ARRB2, IMMT, SETDB1, VIM, ICT1, MME, SHC1, CEP70, ITFG1, PI4KA, SEMA5B, USP22, PTN, NGEF, ZNF235, TCF3, CUL3, MRPL24, MRPL9, MRPL39, MRPL38, MRPL37, MRPL32, MRPL19, MRPL41, MRPL51, MRPL47, MRPL50, MRPL42, MRPL13, TMEM177, ILF3, TSR1, ATP6V0A1, HNRNPU, SPCS2, MPV17, SYNJ2BP, EIF4H, C1QBP, NPM1, DGKE, PPAP2C, TARDBP, ABI2, BTRC, MRPL43, MRPL28, RPS8, MRPL4, HNRNPA1, CASQ2, MRPS30, NTRK1, NDUFA11, ILK, KIF15, GBA2, MRPL1, DUSP11, MRPL10, MRPL12, TNFRSF13B, CYLD, TNIP2, LARP7, MEPCE, RECQL4, MRM1, HSPD1, PDK1, TRMT61B, AURKAIP1, TP63, PHB, MTDH, SNRNP70, BIRC3, PLEKHA4, RASA1, GRSF1, KIF14, ACAD9, AUH, C12orf65, C17orf80, C21orf33, C6orf203, C8orf82, MCUR1, CHCHD1, COX15, CS, DDX28, DHX30, EXD2, FASTKD2, FASTKD3, FASTKD5, GFM1, GFM2, HINT2, LONP1, LRPPRC, CCDC109B, MDH2, METTL15, METTL17, MRPL11, MRPS12, MRPS26, MRRF, MTERF3, MTFMT, MTG1, MTG2, MTIF2, MTIF3, MTRF1, MTRF1L, NGRN, PMPCA, PMPCB, RMND1, RPUSD3, RPUSD4, SLC25A51, SLIRP, SSBP1, SURF1, TACO1, TBRG4, TEFM, TFAM, C19orf52, TMEM70, TRUB2, TSFM, TUFM, VWA8, CLPP, Apc2, DNAJA3, DNAJC15, DNAJC19, DNAJC28, DNAJC9, HSCB, HSPA9, MRPL27, MRPL15, MRPL18, TRA2A, SRSF10, HIST1H1T, MRPL49, MRPL20, MRPL17, MRPL45, RNPS1, MRPL23, MRPS18A, MRPL21, DIEXF, CFAP20, SRSF9, AARS2, COX4I1, COX8A, PDHA1, TRAP1, MRPL2, RPL27A, SRSF5, MRPL30, MRPL52, RPL17, YBX2, MRPS17, H1FNT, MRPL53, ZNF485, PTCD1, MRPL35, RPL37, RPL19, RBMS2, YBX1, MALSU1, FAM120A, RPL13A, RBMS3, RPL10, MRPL46, GADD45GIP1, PRR3, RBM47, SRSF7, RBPMS, DMRTB1, KRT31, PRPF6, QKI, PRRC2B, Taf15, KLF15, |
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Clinically associated variants from ClinVar. |
Gene | Chr | Position | RefSeq | VarSeq | RefSeeq | VarType | Pathogenic | Disease | VarInfo |
MRPL44 | chr2 | 224821790 | A | T | single_nucleotide_variant | Benign | not_provided | SO:0002153|genic_upstream_transcript_variant | SO:0002153|genic_upstream_transcript_variant |
MRPL44 | chr2 | 224821984 | T | G | single_nucleotide_variant | Benign | not_provided | SO:0002153|genic_upstream_transcript_variant | SO:0002153|genic_upstream_transcript_variant |
MRPL44 | chr2 | 224822040 | C | A | single_nucleotide_variant | Likely_benign | not_provided | SO:0002153|genic_upstream_transcript_variant | SO:0002153|genic_upstream_transcript_variant |
MRPL44 | chr2 | 224822043 | C | G | single_nucleotide_variant | Benign | not_provided | SO:0002153|genic_upstream_transcript_variant | SO:0002153|genic_upstream_transcript_variant |
MRPL44 | chr2 | 224822106 | G | T | single_nucleotide_variant | Benign | not_provided | SO:0002153|genic_upstream_transcript_variant | SO:0002153|genic_upstream_transcript_variant |
MRPL44 | chr2 | 224822219 | G | A | single_nucleotide_variant | Likely_benign | not_specified | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
MRPL44 | chr2 | 224822227 | A | G | single_nucleotide_variant | Conflicting_interpretations_of_pathogenicity | not_specified|not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
MRPL44 | chr2 | 224822229 | C | T | single_nucleotide_variant | Likely_benign | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
MRPL44 | chr2 | 224822377 | C | T | single_nucleotide_variant | Likely_benign | not_specified | SO:0001627|intron_variant | SO:0001627|intron_variant |
MRPL44 | chr2 | 224822574 | C | A | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
MRPL44 | chr2 | 224822669 | T | C | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
MRPL44 | chr2 | 224824002 | C | A | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
MRPL44 | chr2 | 224824263 | G | T | single_nucleotide_variant | Likely_benign | not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
MRPL44 | chr2 | 224824315 | A | G | single_nucleotide_variant | Uncertain_significance | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
MRPL44 | chr2 | 224824384 | C | T | single_nucleotide_variant | Conflicting_interpretations_of_pathogenicity | not_specified|not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
MRPL44 | chr2 | 224824484 | C | T | single_nucleotide_variant | Benign | not_specified|not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
MRPL44 | chr2 | 224824528 | A | C | single_nucleotide_variant | Uncertain_significance | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
MRPL44 | chr2 | 224824538 | T | C | single_nucleotide_variant | Pathogenic | Combined_oxidative_phosphorylation_deficiency_16 | SO:0001583|missense_variant | SO:0001583|missense_variant |
MRPL44 | chr2 | 224824538 | T | G | single_nucleotide_variant | Likely_pathogenic | Combined_oxidative_phosphorylation_deficiency_16|not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
MRPL44 | chr2 | 224824552 | ACTG | TC | Indel | Pathogenic | Combined_oxidative_phosphorylation_deficiency_16 | SO:0001589|frameshift_variant | SO:0001589|frameshift_variant |
MRPL44 | chr2 | 224824567 | G | A | single_nucleotide_variant | not_provided | Combined_oxidative_phosphorylation_deficiency_16 | SO:0001583|missense_variant | SO:0001583|missense_variant |
MRPL44 | chr2 | 224824576 | G | T | single_nucleotide_variant | Uncertain_significance | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
MRPL44 | chr2 | 224824617 | A | G | single_nucleotide_variant | Benign | not_specified|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
MRPL44 | chr2 | 224824655 | T | C | single_nucleotide_variant | not_provided | Mitochondrial_complex_IV_deficiency | SO:0001583|missense_variant | SO:0001583|missense_variant |
MRPL44 | chr2 | 224824695 | T | C | single_nucleotide_variant | Benign | not_specified|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
MRPL44 | chr2 | 224824723 | C | T | single_nucleotide_variant | Benign/Likely_benign | not_specified|not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
MRPL44 | chr2 | 224824735 | T | C | single_nucleotide_variant | Likely_benign | not_specified | SO:0001627|intron_variant | SO:0001627|intron_variant |
MRPL44 | chr2 | 224824884 | T | C | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
MRPL44 | chr2 | 224824890 | T | A | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
MRPL44 | chr2 | 224828168 | G | GA | Duplication | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
MRPL44 | chr2 | 224828298 | G | A | single_nucleotide_variant | Benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
MRPL44 | chr2 | 224828496 | T | A | single_nucleotide_variant | Benign | not_specified|not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
MRPL44 | chr2 | 224828570 | A | G | single_nucleotide_variant | Uncertain_significance | not_provided | SO:0001583|missense_variant | SO:0001583|missense_variant |
MRPL44 | chr2 | 224828615 | C | G | single_nucleotide_variant | Uncertain_significance | Combined_oxidative_phosphorylation_deficiency_16 | SO:0001583|missense_variant | SO:0001583|missense_variant |
MRPL44 | chr2 | 224828616 | C | T | single_nucleotide_variant | Likely_benign | not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
MRPL44 | chr2 | 224828624 | T | A | single_nucleotide_variant | Pathogenic | Combined_oxidative_phosphorylation_deficiency_1 | SO:0001587|nonsense | SO:0001587|nonsense |
MRPL44 | chr2 | 224828625 | G | A | single_nucleotide_variant | Likely_benign | not_specified | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
MRPL44 | chr2 | 224828669 | C | T | single_nucleotide_variant | Benign | not_specified|not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
MRPL44 | chr2 | 224828861 | T | G | single_nucleotide_variant | Likely_benign | not_provided | SO:0001627|intron_variant | SO:0001627|intron_variant |
MRPL44 | chr2 | 224831567 | G | C | single_nucleotide_variant | Benign | not_specified | SO:0001627|intron_variant | SO:0001627|intron_variant |
MRPL44 | chr2 | 224831634 | A | G | single_nucleotide_variant | Likely_benign | not_specified | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
MRPL44 | chr2 | 224831637 | G | A | single_nucleotide_variant | Likely_benign | not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
MRPL44 | chr2 | 224831640 | T | G | single_nucleotide_variant | Likely_benign | not_provided | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
MRPL44 | chr2 | 224831706 | G | A | single_nucleotide_variant | Likely_benign | not_specified | SO:0001819|synonymous_variant | SO:0001819|synonymous_variant |
MRPL44 | chr2 | 224831753 | C | T | single_nucleotide_variant | Benign | not_provided | SO:0001624|3_prime_UTR_variant | SO:0001624|3_prime_UTR_variant |
MRPL44 | chr2 | 224831832 | A | G | single_nucleotide_variant | Likely_benign | not_provided | SO:0001624|3_prime_UTR_variant | SO:0001624|3_prime_UTR_variant |
nsSNVs with sample frequency (size of circle) from TCGA 33 cancers. |
SNVs and Indels |
Gene | Cancer type | Chromosome | Start | End | RefSeeq | MutSeq | Mutation type | AAchange | # samples |
MRPL44 | SARC | chr2 | 224824624 | 224824624 | C | T | Missense_Mutation | p.P185S | 5 |
MRPL44 | UCEC | chr2 | 224824263 | 224824263 | G | A | Silent | p.P64 | 4 |
MRPL44 | KIRP | chr2 | 224824513 | 224824513 | A | G | Missense_Mutation | p.M148V | 4 |
MRPL44 | UCS | chr2 | 224822309 | 224822309 | C | A | Silent | p.R40R | 3 |
MRPL44 | UCS | chr2 | 224831613 | 224831613 | A | G | Silent | p.E287E | 3 |
MRPL44 | SKCM | chr2 | 224824592 | 224824592 | C | T | Missense_Mutation | p.A174V | 3 |
MRPL44 | SARC | chr2 | 224824624 | 224824624 | C | T | Missense_Mutation | 2 | |
MRPL44 | SARC | chr2 | 224824683 | 224824683 | G | T | Missense_Mutation | 2 | |
MRPL44 | LUAD | chr2 | 224828609 | 224828609 | G | A | Missense_Mutation | p.G262D | 2 |
MRPL44 | SARC | chr2 | 224831683 | 224831683 | A | G | Missense_Mutation | 2 | |
MRPL44 | STAD | chr2 | 224828559 | 224828559 | G | - | Frame_Shift_Del | p.L245fs | 2 |
MRPL44 | LUAD | chr2 | 224822340 | 224822340 | C | T | Silent | p.L51L | 2 |
MRPL44 | TGCT | chr2 | 224824617 | 224824617 | A | G | Silent | 2 | |
MRPL44 | CHOL | chr2 | 224828637 | 224828637 | T | G | Missense_Mutation | 2 | |
MRPL44 | SARC | chr2 | 224831683 | 224831683 | A | G | Missense_Mutation | p.R311G | 2 |
MRPL44 | CHOL | chr2 | 224828637 | 224828637 | T | G | Missense_Mutation | p.F271L | 2 |
MRPL44 | UCEC | chr2 | 224828559 | 224828559 | G | A | Silent | p.L245 | 2 |
MRPL44 | SKCM | chr2 | 224828523 | 224828523 | G | C | Missense_Mutation | p.K233N | 2 |
MRPL44 | UCEC | chr2 | 224828614 | 224828614 | A | G | Missense_Mutation | p.T264A | 2 |
MRPL44 | SKCM | chr2 | 224822295 | 224822295 | C | T | Missense_Mutation | p.R36C | 2 |
MRPL44 | BLCA | chr2 | 224824694 | 224824694 | C | A | Missense_Mutation | p.P208H | 2 |
MRPL44 | SKCM | chr2 | 224828523 | 224828523 | G | A | Silent | p.K233K | 2 |
MRPL44 | LIHC | chr2 | 224824366 | 224824366 | A | - | Frame_Shift_Del | p.K99fs | 2 |
MRPL44 | BLCA | chr2 | 224822290 | 224822290 | G | A | Missense_Mutation | 1 | |
MRPL44 | LIHC | chr2 | 224824530 | 224824530 | A | - | Frame_Shift_Del | p.I153fs | 1 |
MRPL44 | CESC | chr2 | 224824505 | 224824508 | ACCC | - | Frame_Shift_Del | 1 | |
MRPL44 | HNSC | chr2 | 224824585 | 224824585 | A | G | Missense_Mutation | 1 | |
MRPL44 | SKCM | chr2 | 224824666 | 224824666 | A | T | Missense_Mutation | p.I199F | 1 |
MRPL44 | BLCA | chr2 | 224831686 | 224831686 | C | T | Missense_Mutation | 1 | |
MRPL44 | LIHC | chr2 | 224824283 | 224824283 | A | - | Frame_Shift_Del | p.E71fs | 1 |
MRPL44 | CESC | chr2 | 224824575 | 224824575 | C | T | Silent | 1 | |
MRPL44 | HNSC | chr2 | 224831662 | 224831662 | C | G | Missense_Mutation | 1 | |
MRPL44 | STAD | chr2 | 224828559 | 224828559 | G | - | Frame_Shift_Del | 1 | |
MRPL44 | BLCA | chr2 | 224824315 | 224824315 | A | G | Missense_Mutation | 1 | |
MRPL44 | CESC | chr2 | 224824505 | 224824508 | ACCC | - | Frame_Shift_Del | p.Y145fs | 1 |
MRPL44 | HNSC | chr2 | 224824585 | 224824585 | A | G | Missense_Mutation | p.N172D | 1 |
MRPL44 | BLCA | chr2 | 224822184 | 224822184 | C | T | Missense_Mutation | 1 | |
MRPL44 | CESC | chr2 | 224824575 | 224824575 | C | T | Silent | p.H168 | 1 |
MRPL44 | SARC | chr2 | 224824449 | 224824449 | C | A | Silent | 1 | |
MRPL44 | HNSC | chr2 | 224824372 | 224824372 | G | A | Missense_Mutation | p.E101K | 1 |
MRPL44 | BLCA | chr2 | 224824694 | 224824694 | C | A | Missense_Mutation | 1 | |
MRPL44 | LUAD | chr2 | 224822353 | 224822353 | C | G | Missense_Mutation | p.P55R | 1 |
MRPL44 | HNSC | chr2 | 224831662 | 224831662 | C | G | Missense_Mutation | p.L304V | 1 |
MRPL44 | UCS | chr2 | 224831613 | 224831613 | A | G | Silent | 1 | |
MRPL44 | BLCA | chr2 | 224824558 | 224824558 | G | A | Missense_Mutation | 1 | |
MRPL44 | LUAD | chr2 | 224831597 | 224831597 | C | T | Missense_Mutation | p.A282V | 1 |
MRPL44 | KIRP | chr2 | 224824598 | 224824598 | A | G | Missense_Mutation | p.E176G | 1 |
MRPL44 | BLCA | chr2 | 224824491 | 224824506 | TCTTGAAGACGAGTAC | - | Frame_Shift_Del | 1 | |
MRPL44 | LUSC | chr2 | 224822335 | 224822335 | G | T | Missense_Mutation | p.R49L | 1 |
MRPL44 | COAD | chr2 | 224824355 | 224824355 | G | A | Missense_Mutation | p.S95N | 1 |
MRPL44 | BLCA | chr2 | 224822290 | 224822290 | G | A | Missense_Mutation | p.G34E | 1 |
MRPL44 | LUSC | chr2 | 224824686 | 224824686 | C | T | Silent | p.S205S | 1 |
MRPL44 | COAD | chr2 | 224824384 | 224824384 | C | T | Missense_Mutation | p.R105C | 1 |
MRPL44 | KIRP | chr2 | 224824513 | 224824513 | A | G | Missense_Mutation | 1 | |
MRPL44 | UCS | chr2 | 224822309 | 224822309 | C | A | Silent | 1 | |
MRPL44 | BLCA | chr2 | 224824315 | 224824315 | A | G | Missense_Mutation | p.N82D | 1 |
MRPL44 | OV | chr2 | 224532732 | 224532732 | G | C | Missense_Mutation | p.Q139H | 1 |
MRPL44 | COAD | chr2 | 224824617 | 224824617 | A | G | Silent | p.E182E | 1 |
MRPL44 | LIHC | chr2 | 224824697 | 224824697 | A | G | Missense_Mutation | p.E209G | 1 |
MRPL44 | PRAD | chr2 | 224828620 | 224828620 | G | T | Missense_Mutation | p.A266S | 1 |
MRPL44 | COAD | chr2 | 224824385 | 224824385 | G | A | Missense_Mutation | p.R105H | 1 |
MRPL44 | BLCA | chr2 | 224824558 | 224824558 | G | A | Missense_Mutation | p.E163K | 1 |
MRPL44 | READ | chr2 | 224824613 | 224824613 | G | A | Missense_Mutation | p.S181N | 1 |
MRPL44 | HNSC | chr2 | 224824372 | 224824372 | G | A | Missense_Mutation | 1 | |
MRPL44 | SKCM | chr2 | 224822312 | 224822312 | C | T | Silent | p.F41F | 1 |
Copy number variation (CNV) of MRPL44 * Click on the image to open the original image in a new window. |
Fusion gene breakpoints (product of the structural variants (SVs)) across MRPL44 * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
Fusion genes with this translation factor from FusionGDB2.0. |
FusionGDB2 ID | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
96109 | PRAD | TCGA-WW-A8ZI-01A | MRPL44 | chr2 | 224824719 | - | ABCG1 | chr21 | 43645781 | + |
99563 | N/A | FN079048 | MRPL44 | chr2 | 224831901 | + | DGKH | chr13 | 42729570 | + |
80891 | OV | TCGA-30-1861 | SETD2 | chr3 | 47205343 | - | MRPL44 | chr2 | 224824250 | + |
80891 | OV | TCGA-30-1861-01A | SETD2 | chr3 | 47205344 | - | MRPL44 | chr2 | 224824251 | + |
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Kaplan-Meier plots with logrank tests of overall survival (OS) |
Cancer type | Translation factor | Coefficent | Hazard ratio | Wald test pval | Likelihool ratio pval | Logrank test pval | # samples |
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Differential gene expression between female and male. (Wilcoxon test, pval<0.05) |
Cancer type | Translation factor | pval | adj.p |
TGCT | MRPL44 | 0.00098135988825616 | 0.027 |
LUAD | MRPL44 | 0.00576471624622125 | 0.16 |
MESO | MRPL44 | 0.0296438731541987 | 0.77 |
ACC | MRPL44 | 0.0395449454871966 | 0.99 |
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Differential gene expression between young and old age groups (Wilcoxon test, pval<0.05) |
Cancer type | Translation factor | pval | adj.p |
LIHC | MRPL44 | 0.0153635841195684 | 0.51 |
LGG | MRPL44 | 0.0284545272499172 | 0.88 |
OV | MRPL44 | 0.036339355208016 | 1 |
THYM | MRPL44 | 0.0244559025571457 | 0.78 |
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Drugs targeting genes involved in this translation factor. (DrugBank Version 5.1.8 2021-05-08) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Diseases associated with this translation factor. (DisGeNet 4.0) |
Disease ID | Disease Name | # PubMeds | Disease source |
C3809339 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16 | 1 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |