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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 ROBO1 |
Gene summary |
Gene information | Gene symbol | ROBO1 | Gene ID | 6091 |
Gene name | roundabout guidance receptor 1 | |
Synonyms | DUTT1|SAX3 | |
Cytomap | 3p12.3 | |
Type of gene | protein-coding | |
Description | roundabout homolog 1deleted in U twenty twentyroundabout, axon guidance receptor, homolog 1 | |
Modification date | 20200313 | |
UniProtAcc | A0A087WTM1, | |
Context |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
ROBO1 | GO:0007156 | homophilic cell adhesion via plasma membrane adhesion molecules | 12504588 |
ROBO1 | GO:0021836 | chemorepulsion involved in postnatal olfactory bulb interneuron migration | 15207848 |
ROBO1 | GO:0050772 | positive regulation of axonogenesis | 12504588 |
ROBO1 | GO:0050925 | negative regulation of negative chemotaxis | 11748139 |
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Gene structures and expression levels for ROBO1 |
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 |
STG | UP | ENST00000495273.5 | ROBO1-209:protein_coding:ROBO1 | 1.846284e+01 | 7.362414e+00 | 4.261428e-07 | 2.794985e-04 |
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 ROBO1 |
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_209721 | chr3 | 78646148:78646190:78647629:78647655:78651732:78651929 | 78647629:78647655 |
exon_skip_220266 | chr3 | 78685746:78685917:78688648:78688772:78714397:78714520 | 78688648:78688772 |
exon_skip_230246 | chr3 | 78688648:78688772:78693348:78693356:78714397:78714520 | 78693348:78693356 |
exon_skip_242708 | chr3 | 78688648:78688772:78693348:78693356:78714397:78714524 | 78693348:78693356 |
exon_skip_267162 | chr3 | 78598811:78598927:78600113:78600309:78606733:78607041 | 78600113:78600309 |
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 ROBO1 |
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 |
ENST00000464233 | 78600113 | 78600309 | Frame-shift |
ENST00000464233 | 78647629 | 78647655 | 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 |
ENST00000464233 | 78688648 | 78688772 | Frame-shift |
ENST00000464233 | 78647629 | 78647655 | 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 |
ENST00000464233 | 78600113 | 78600309 | Frame-shift |
ENST00000464233 | 78647629 | 78647655 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ROBO1 |
p-ENSG00000169855_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 ROBO1 |
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 ROBO1 |
- 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 ROBO1 |
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 ROBO1 |
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 ROBO1 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | RALYL | exon_skip_209721 | 4.550397e-01 | 6.036591e-08 |
HCC | RBM6 | exon_skip_209721 | -5.061839e-01 | 6.562544e-19 |
IFG | RBM24 | exon_skip_209721 | 4.188197e-01 | 3.320863e-02 |
IFG | NUP42 | exon_skip_209721 | 4.417452e-01 | 2.386216e-02 |
PCC | RALYL | exon_skip_209721 | 4.593572e-01 | 1.268790e-11 |
TC | RBM6 | exon_skip_209721 | -4.484420e-01 | 3.091461e-08 |
TC | RBM24 | exon_skip_209721 | 5.026457e-01 | 2.877486e-10 |
TC | RALYL | exon_skip_209721 | 5.001135e-01 | 3.647527e-10 |
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RelatedDrugs for ROBO1 |
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 ROBO1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |