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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 LRPPRC |
 Gene summary |
| Gene information | Gene symbol | LRPPRC | Gene ID | 10128 |
| Gene name | leucine rich pentatricopeptide repeat containing | |
| Synonyms | CLONE-23970|GP130|LRP130|LSFC | |
| Cytomap | 2p21 | |
| Type of gene | protein-coding | |
| Description | leucine-rich PPR motif-containing protein, mitochondrial130 kDa leucine-rich proteinLRP 130leucine-rich PPR-motif containingmitochondrial leucine-rich PPR motif-containing protein | |
| Modification date | 20200329 | |
| UniProtAcc | ||
| Context | - 25959826(Quantitative Interaction Proteomics of Neurodegenerative Disease Proteins) |
| 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 LRPPRC |
| 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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ENSG00000138095
| 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. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | DOWN | ENST00000419884.5 | LRPPRC-204:protein_coding:LRPPRC | 2.118853e+02 | -9.690732e-01 | 2.799522e-08 | 7.229629e-07 |
| 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 LRPPRC |
| 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_108072 | chr2 | 43889734:43889876:43894545:43894629:43896634:43896708 | 43894545:43894629 |
| exon_skip_121185 | chr2 | 43894545:43894629:43896634:43896708:43899219:43899284 | 43896634:43896708 |
| exon_skip_138065 | chr2 | 43975091:43975217:43976143:43976229:43976994:43977052 | 43976143:43976229 |
| exon_skip_140420 | chr2 | 43901320:43901524:43905692:43905780:43912432:43912558 | 43905692:43905780 |
| exon_skip_143415 | chr2 | 43894545:43894629:43896634:43896708:43899219:43899250 | 43896634:43896708 |
| exon_skip_145149 | chr2 | 43976143:43976229:43976994:43977052:43977155:43977276 | 43976994:43977052 |
| exon_skip_152404 | chr2 | 43889734:43889876:43890223:43890362:43894545:43894629 | 43890223:43890362 |
| exon_skip_176572 | chr2 | 43973795:43973900:43974150:43974295:43974614:43974758 | 43974150:43974295 |
| exon_skip_221871 | chr2 | 43948426:43948518:43949602:43949659:43950573:43950600 | 43949602:43949659 |
| exon_skip_240564 | chr2 | 43943687:43943894:43945332:43945417:43946113:43946243 | 43945332:43945417 |
| exon_skip_242821 | chr2 | 43918256:43918398:43925067:43925157:43925893:43925961 | 43925067:43925157 |
| exon_skip_290691 | chr2 | 43947257:43947370:43947731:43947775:43948122:43948199 | 43947731:43947775 |
| exon_skip_291919 | chr2 | 43912432:43912558:43918025:43918133:43918256:43918398 | 43918025:43918133 |
| exon_skip_93626 | chr2 | 43979826:43979948:43982238:43982434:43995799:43995978 | 43982238:43982434 |
| exon_skip_94441 | chr2 | 43905692:43905780:43912432:43912558:43918025:43918133 | 43912432:43912558 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_288955 | Mayo_CB | 2.324390e-01 | 4.341096e-01 | -2.016706e-01 | 1.804447e-07 |
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Open reading frame (ORF) annotation in the exon skipping event for LRPPRC |
| 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 |
| ENST00000260665 | 43918025 | 43918133 | Frame-shift |
| ENST00000260665 | 43896634 | 43896708 | In-frame |
| ENST00000260665 | 43947731 | 43947775 | In-frame |
| ENST00000260665 | 43976143 | 43976229 | 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 |
| ENST00000260665 | 43905692 | 43905780 | Frame-shift |
| ENST00000260665 | 43918025 | 43918133 | Frame-shift |
| ENST00000260665 | 43896634 | 43896708 | In-frame |
| ENST00000260665 | 43947731 | 43947775 | 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 |
| ENST00000260665 | 43894545 | 43894629 | Frame-shift |
| ENST00000260665 | 43912432 | 43912558 | Frame-shift |
| ENST00000260665 | 43918025 | 43918133 | Frame-shift |
| ENST00000260665 | 43925067 | 43925157 | Frame-shift |
| ENST00000260665 | 43945332 | 43945417 | Frame-shift |
| ENST00000260665 | 43949602 | 43949659 | Frame-shift |
| ENST00000260665 | 43974150 | 43974295 | Frame-shift |
| ENST00000260665 | 43976994 | 43977052 | Frame-shift |
| ENST00000260665 | 43896634 | 43896708 | In-frame |
| ENST00000260665 | 43947731 | 43947775 | In-frame |
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Infer the effects of exon skipping event on protein functional features for LRPPRC |
p-ENSG00000138095_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 |
| ENST00000260665 | 6352 | 1394 | 43976143 | 43976229 | 709 | 794 | 217 | 245 |
| ENST00000260665 | 6352 | 1394 | 43947731 | 43947775 | 1979 | 2022 | 640 | 654 |
| ENST00000260665 | 6352 | 1394 | 43896634 | 43896708 | 3884 | 3957 | 1275 | 1299 |
| 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 |
| ENST00000260665 | 6352 | 1394 | 43947731 | 43947775 | 1979 | 2022 | 640 | 654 |
| ENST00000260665 | 6352 | 1394 | 43896634 | 43896708 | 3884 | 3957 | 1275 | 1299 |
| 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 |
| ENST00000260665 | 6352 | 1394 | 43947731 | 43947775 | 1979 | 2022 | 640 | 654 |
| ENST00000260665 | 6352 | 1394 | 43896634 | 43896708 | 3884 | 3957 | 1275 | 1299 |
| 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 |
| P42704 | 217 | 245 | 60 | 1394 | Chain | ID=PRO_0000084467;Note=Leucine-rich PPR motif-containing protein%2C mitochondrial |
| P42704 | 217 | 245 | 226 | 226 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q6PB66 |
| P42704 | 217 | 245 | 196 | 230 | Repeat | Note=PPR 3 |
| P42704 | 217 | 245 | 231 | 265 | Repeat | Note=PPR 4 |
| P42704 | 640 | 654 | 60 | 1394 | Chain | ID=PRO_0000084467;Note=Leucine-rich PPR motif-containing protein%2C mitochondrial |
| P42704 | 640 | 654 | 648 | 648 | Sequence conflict | Note=S->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P42704 | 1275 | 1299 | 60 | 1394 | Chain | ID=PRO_0000084467;Note=Leucine-rich PPR motif-containing protein%2C mitochondrial |
| P42704 | 1275 | 1299 | 1121 | 1394 | Region | Note=RNA-binding |
| 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 |
| P42704 | 640 | 654 | 60 | 1394 | Chain | ID=PRO_0000084467;Note=Leucine-rich PPR motif-containing protein%2C mitochondrial |
| P42704 | 640 | 654 | 648 | 648 | Sequence conflict | Note=S->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P42704 | 1275 | 1299 | 60 | 1394 | Chain | ID=PRO_0000084467;Note=Leucine-rich PPR motif-containing protein%2C mitochondrial |
| P42704 | 1275 | 1299 | 1121 | 1394 | Region | Note=RNA-binding |
| 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 |
| P42704 | 640 | 654 | 60 | 1394 | Chain | ID=PRO_0000084467;Note=Leucine-rich PPR motif-containing protein%2C mitochondrial |
| P42704 | 640 | 654 | 648 | 648 | Sequence conflict | Note=S->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P42704 | 1275 | 1299 | 60 | 1394 | Chain | ID=PRO_0000084467;Note=Leucine-rich PPR motif-containing protein%2C mitochondrial |
| P42704 | 1275 | 1299 | 1121 | 1394 | Region | Note=RNA-binding |
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3'-UTR located exon skipping events that lost miRNA binding sites in LRPPRC |
| 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 LRPPRC |
| - 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 LRPPRC |
| 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 LRPPRC |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| CB | exon_skip_290691 | rs4245794 | chr2:43873710 | 3.484214e-05 | 7.263632e-03 |
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Correlation with RNA binding proteins (RBPs) for LRPPRC |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | ELAVL1 | exon_skip_288955 | -4.312161e-01 | 2.126160e-08 |
| CB | ZNF638 | exon_skip_288955 | -4.634097e-01 | 1.262927e-09 |
| CB | CNOT4 | exon_skip_288955 | -5.451998e-01 | 2.220977e-13 |
| CB | PCBP1 | exon_skip_288955 | -4.518877e-01 | 3.588696e-09 |
| CB | PCBP4 | exon_skip_288955 | 5.500055e-01 | 1.239150e-13 |
| CB | TRA2A | exon_skip_288955 | -4.900588e-01 | 9.672238e-11 |
| CB | FUBP1 | exon_skip_288955 | -5.263464e-01 | 2.008154e-12 |
| CB | HNRNPA2B1 | exon_skip_288955 | -5.084499e-01 | 1.437105e-11 |
| CB | RBM45 | exon_skip_288955 | 5.764874e-01 | 4.180548e-15 |
| CB | PTBP1 | exon_skip_288955 | -4.031753e-01 | 1.978453e-07 |
| CB | HNRNPF | exon_skip_288955 | -4.506671e-01 | 3.999511e-09 |
| CB | DAZAP1 | exon_skip_143415 | -4.512875e-01 | 2.371165e-09 |
| CB | ELAVL1 | exon_skip_143415 | -4.135732e-01 | 6.013843e-08 |
| CB | ZNF638 | exon_skip_143415 | -5.499449e-01 | 5.998902e-14 |
| CB | CNOT4 | exon_skip_143415 | -5.338192e-01 | 4.306181e-13 |
| CB | FUBP1 | exon_skip_143415 | -5.476174e-01 | 8.025377e-14 |
| CB | NUP42 | exon_skip_143415 | 4.050152e-01 | 1.187239e-07 |
| CB | ZNF638 | exon_skip_290691 | -5.613871e-01 | 7.844022e-14 |
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RelatedDrugs for LRPPRC |
| 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 LRPPRC |
| 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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