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Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for LEPROTL1 |
Gene summary |
Gene information | Gene symbol | LEPROTL1 | Gene ID | 23484 |
Gene name | leptin receptor overlapping transcript like 1 | |
Synonyms | HSPC112|Vps55|my047 | |
Cytomap | 8p12 | |
Type of gene | protein-coding | |
Description | leptin receptor overlapping transcript-like 1endospanin-2 | |
Modification date | 20200313 | |
UniProtAcc | A0A3B3IS19, | |
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 LEPROTL1 |
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. |
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 |
CB | UP | ENST00000519466.1 | LEPROTL1-205:protein_coding:LEPROTL1 | 6.870769e+00 | 1.106790e+00 | 2.970640e-10 | 1.592844e-08 |
CB | UP | ENST00000518001.1 | LEPROTL1-203:protein_coding:LEPROTL1 | 6.491335e+00 | 1.204720e+00 | 2.112193e-03 | 9.642681e-03 |
CB | UP | ENST00000442880.6 | LEPROTL1-202:protein_coding:LEPROTL1 | 1.093258e+00 | 1.260944e+00 | 6.322674e-03 | 2.386700e-02 |
CB | UP | ENST00000518192.5 | LEPROTL1-204:protein_coding:LEPROTL1 | 2.352868e+00 | 1.003385e+00 | 7.944122e-03 | 2.879474e-02 |
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 LEPROTL1 |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_106993 | chr8 | 30104300:30104486:30132375:30132489:30137272:30137697 | 30132375:30132489 |
exon_skip_169598 | chr8 | 30104300:30104486:30104734:30104991:30105746:30106573 | 30104734:30104991 |
exon_skip_234338 | chr8 | 30101940:30101973:30104300:30104486:30105746:30106028 | 30104300:30104486 |
exon_skip_241290 | chr8 | 30095487:30095528:30101898:30101973:30104300:30104486 | 30101898:30101973 |
exon_skip_24922 | chr8 | 30104362:30104486:30132375:30132489:30137272:30137697 | 30132375:30132489 |
exon_skip_251909 | chr8 | 30101940:30101973:30104300:30104486:30137272:30137697 | 30104300:30104486 |
exon_skip_267252 | chr8 | 30104362:30104486:30104734:30104991:30105746:30108000 | 30104734:30104991 |
exon_skip_59744 | chr8 | 30104300:30104486:30104734:30104991:30105746:30105951 | 30104734:30104991 |
exon_skip_60139 | chr8 | 30104300:30104486:30104734:30104991:30105746:30108000 | 30104734:30104991 |
exon_skip_8689 | chr8 | 30095410:30095528:30101898:30101973:30104300:30104486 | 30101898:30101973 |
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 LEPROTL1 |
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 |
ENST00000321250 | 30104300 | 30104486 | Frame-shift |
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 |
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 |
ENST00000321250 | 30104300 | 30104486 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for LEPROTL1 |
p-ENSG00000104660_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 |
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 |
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 |
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 |
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 |
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 |
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3'-UTR located exon skipping events that lost miRNA binding sites in LEPROTL1 |
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 LEPROTL1 |
- 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 LEPROTL1 |
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 LEPROTL1 |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for LEPROTL1 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | DAZAP1 | exon_skip_97481 | 4.460779e-01 | 5.988626e-09 |
CB | TARDBP | exon_skip_97481 | 5.532759e-01 | 8.285848e-14 |
CB | ELAVL1 | exon_skip_97481 | 4.338371e-01 | 1.707891e-08 |
CB | MBNL1 | exon_skip_97481 | 4.099247e-01 | 1.178060e-07 |
CB | PCBP1 | exon_skip_97481 | 4.189933e-01 | 5.764153e-08 |
CB | RC3H1 | exon_skip_97481 | 4.652751e-01 | 1.062555e-09 |
CB | FUBP1 | exon_skip_97481 | 6.295081e-01 | 1.736225e-18 |
CB | KHSRP | exon_skip_97481 | 4.150725e-01 | 7.871816e-08 |
CB | HNRNPC | exon_skip_97481 | 5.311912e-01 | 1.155318e-12 |
CB | EIF4G2 | exon_skip_97481 | 4.056575e-01 | 1.637181e-07 |
CB | PTBP1 | exon_skip_97481 | 4.479496e-01 | 5.083204e-09 |
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RelatedDrugs for LEPROTL1 |
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 LEPROTL1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |