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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for MRPL48 |
 Gene summary |
| Gene information | Gene symbol | MRPL48 | Gene ID | 51642 |
| Gene name | mitochondrial ribosomal protein L48 | |
| Synonyms | CGI-118|HSPC290|L48MT|MRP-L48 | |
| Cytomap | 11q13.4 | |
| Type of gene | protein-coding | |
| Description | 39S ribosomal protein L48, mitochondrialmitochondrial large ribosomal subunit protein mL48 | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
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Gene structures and expression levels for MRPL48 |
| Skipped exons in the ROSMAP, MSBB, and Mayo 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. |
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ENSG00000175581
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for MRPL48 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_111946 | chr11 | 73805027:73805079:73808313:73808350:73844807:73844934 | 73808313:73808350 |
| exon_skip_115807 | chr11 | 73808313:73808350:73825708:73825796:73843247:73843367 | 73825708:73825796 |
| exon_skip_117639 | chr11 | 73787957:73787992:73805027:73805079:73825708:73825796 | 73805027:73805079 |
| exon_skip_11989 | chr11 | 73808313:73808350:73825708:73825796:73844807:73844934 | 73825708:73825796 |
| exon_skip_129665 | chr11 | 73787957:73787992:73825708:73825796:73844807:73844934 | 73825708:73825796 |
| exon_skip_133518 | chr11 | 73805027:73805079:73808313:73808350:73817823:73817947 | 73808313:73808350 |
| exon_skip_135630 | chr11 | 73823013:73823070:73825708:73825796:73844807:73844934 | 73825708:73825796 |
| exon_skip_137743 | chr11 | 73859907:73860009:73863172:73863261:73864296:73864424 | 73863172:73863261 |
| exon_skip_151457 | chr11 | 73844916:73844976:73859907:73860009:73863172:73863261 | 73859907:73860009 |
| exon_skip_152874 | chr11 | 73825708:73825796:73843247:73843367:73844807:73844934 | 73843247:73843367 |
| exon_skip_154644 | chr11 | 73825708:73825796:73843247:73843367:73844807:73844833 | 73843247:73843367 |
| exon_skip_162939 | chr11 | 73787957:73787992:73805027:73805079:73825708:73825768 | 73805027:73805079 |
| exon_skip_170468 | chr11 | 73787957:73787992:73789335:73789490:73805027:73805079 | 73789335:73789490 |
| exon_skip_173623 | chr11 | 73808313:73808350:73823013:73823070:73825708:73825768 | 73823013:73823070 |
| exon_skip_173781 | chr11 | 73805027:73805079:73825708:73825796:73844807:73844934 | 73825708:73825796 |
| exon_skip_185715 | chr11 | 73787930:73787992:73805027:73805079:73825708:73825768 | 73805027:73805079 |
| exon_skip_190341 | chr11 | 73844807:73844976:73863172:73863261:73864296:73864424 | 73863172:73863261 |
| exon_skip_194018 | chr11 | 73805027:73805079:73808313:73808350:73825708:73825768 | 73808313:73808350 |
| exon_skip_201114 | chr11 | 73808313:73808350:73817823:73817947:73825708:73825768 | 73817823:73817947 |
| exon_skip_218260 | chr11 | 73844967:73844976:73859907:73860009:73863172:73863261 | 73859907:73860009 |
| exon_skip_219784 | chr11 | 73787957:73787992:73805027:73805079:73808313:73808346 | 73805027:73805079 |
| exon_skip_219838 | chr11 | 73787957:73787992:73825708:73825796:73844807:73844833 | 73825708:73825796 |
| exon_skip_223600 | chr11 | 73789335:73789490:73805027:73805079:73825708:73825796 | 73805027:73805079 |
| exon_skip_227589 | chr11 | 73808313:73808350:73825708:73825796:73844807:73844833 | 73825708:73825796 |
| exon_skip_245209 | chr11 | 73825708:73825796:73844807:73844976:73859907:73860009 | 73844807:73844976 |
| exon_skip_255512 | chr11 | 73808313:73808350:73817823:73817947:73825708:73825796 | 73817823:73817947 |
| exon_skip_265933 | chr11 | 73787957:73787992:73805027:73805079:73808313:73808350 | 73805027:73805079 |
| exon_skip_266003 | chr11 | 73808313:73808350:73825708:73825796:73863172:73863261 | 73825708:73825796 |
| exon_skip_277575 | chr11 | 73805027:73805079:73808313:73808350:73825708:73825796 | 73808313:73808350 |
| exon_skip_38275 | chr11 | 73789335:73789490:73805027:73805079:73808313:73808350 | 73805027:73805079 |
| exon_skip_42895 | chr11 | 73844807:73844976:73859907:73860009:73863172:73863261 | 73859907:73860009 |
| exon_skip_83859 | chr11 | 73808313:73808350:73844807:73844976:73863172:73863261 | 73844807:73844976 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for MRPL48 |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000310614 | 73805027 | 73805079 | Frame-shift |
| ENST00000310614 | 73808313 | 73808350 | Frame-shift |
| ENST00000310614 | 73825708 | 73825796 | Frame-shift |
| ENST00000310614 | 73844807 | 73844976 | Frame-shift |
| ENST00000310614 | 73859907 | 73860009 | Frame-shift |
| ENST00000310614 | 73863172 | 73863261 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000310614 | 73808313 | 73808350 | Frame-shift |
| ENST00000310614 | 73825708 | 73825796 | Frame-shift |
| ENST00000310614 | 73859907 | 73860009 | Frame-shift |
| ENST00000310614 | 73863172 | 73863261 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000310614 | 73805027 | 73805079 | Frame-shift |
| ENST00000310614 | 73808313 | 73808350 | Frame-shift |
| ENST00000310614 | 73825708 | 73825796 | Frame-shift |
| ENST00000310614 | 73844807 | 73844976 | Frame-shift |
| ENST00000310614 | 73859907 | 73860009 | Frame-shift |
| ENST00000310614 | 73863172 | 73863261 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MRPL48 |
p-ENSG00000175581_img4.png |
| Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000310614 | 1553 | 212 | 73863172 | 73863261 | 1132 | 1220 | 158 | 188 |
| Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000310614 | 1553 | 212 | 73863172 | 73863261 | 1132 | 1220 | 158 | 188 |
| Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000310614 | 1553 | 212 | 73863172 | 73863261 | 1132 | 1220 | 158 | 188 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q96GC5 | 158 | 188 | 29 | 212 | Chain | ID=PRO_0000261657;Note=39S ribosomal protein L48%2C mitochondrial |
| Q96GC5 | 158 | 188 | 164 | 175 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5OOM |
| Lost protein functional features of individual exon skipping events in MSBB. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q96GC5 | 158 | 188 | 29 | 212 | Chain | ID=PRO_0000261657;Note=39S ribosomal protein L48%2C mitochondrial |
| Q96GC5 | 158 | 188 | 164 | 175 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5OOM |
| Lost protein functional features of individual exon skipping events in Mayo. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q96GC5 | 158 | 188 | 29 | 212 | Chain | ID=PRO_0000261657;Note=39S ribosomal protein L48%2C mitochondrial |
| Q96GC5 | 158 | 188 | 164 | 175 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5OOM |
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3'-UTR located exon skipping events that lost miRNA binding sites in MRPL48 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for MRPL48 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
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AD stage-associated exon skippint events for MRPL48 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MRPL48 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| DLPFC | exon_skip_152874 | rs1618529 | chr11:73921649 | 3.292489e-04 | 2.323562e-02 |
| DLPFC | exon_skip_152874 | rs1670561 | chr11:73890114 | 6.468569e-04 | 3.960884e-02 |
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Correlation with RNA binding proteins (RBPs) for MRPL48 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | DAZAP1 | exon_skip_194018 | -4.268389e-01 | 2.016896e-08 |
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RelatedDrugs for MRPL48 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for MRPL48 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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