|
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 ROBO2 |
Gene summary |
Gene information | Gene symbol | ROBO2 | Gene ID | 6092 |
Gene name | roundabout guidance receptor 2 | |
Synonyms | SAX3 | |
Cytomap | 3p12.3 | |
Type of gene | protein-coding | |
Description | roundabout homolog 2roundabout, axon guidance receptor, homolog 2 | |
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 |
ROBO2 | GO:0007156 | homophilic cell adhesion via plasma membrane adhesion molecules | 12504588 |
ROBO2 | GO:0050772 | positive regulation of axonogenesis | 12504588 |
ROBO2 | GO:0050925 | negative regulation of negative chemotaxis | 11748139 |
Top |
Gene structures and expression levels for ROBO2 |
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 |
PG | DOWN | ENST00000487694.7 | ROBO2-209:protein_coding:ROBO2 | 8.739586e+01 | -9.645136e-01 | 2.900366e-04 | 5.981363e-03 |
Landscape of isoform expressions across multiple brain tissues between AD and control. |
Top |
Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for ROBO2 |
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_10095 | chr3 | 77563167:77563329:77564450:77564588:77564954:77565120 | 77564450:77564588 |
exon_skip_132050 | chr3 | 77602412:77602491:77602935:77603060:77607798:77607811 | 77602935:77603060 |
exon_skip_187695 | chr3 | 77522775:77522902:77527403:77527414:77546338:77546462 | 77527403:77527414 |
exon_skip_270421 | chr3 | 77602210:77602491:77602935:77603060:77607798:77607811 | 77602935:77603060 |
exon_skip_271730 | chr3 | 77634925:77635043:77642671:77642943:77644704:77644895 | 77642671:77642943 |
exon_skip_586 | chr3 | 77622227:77622432:77632474:77632656:77634870:77635043 | 77632474:77632656 |
exon_skip_67373 | chr3 | 77622227:77622432:77634870:77635043:77644704:77644895 | 77634870:77635043 |
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 |
Top |
Open reading frame (ORF) annotation in the exon skipping event for ROBO2 |
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 |
ENST00000461745 | 77634870 | 77635043 | 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 |
ENST00000461745 | 77634870 | 77635043 | 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 |
ENST00000461745 | 77634870 | 77635043 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for ROBO2 |
p-ENSG00000185008_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 |
ENST00000461745 | 8963 | 1378 | 77634870 | 77635043 | 4662 | 4834 | 1254 | 1311 |
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 |
ENST00000461745 | 8963 | 1378 | 77634870 | 77635043 | 4662 | 4834 | 1254 | 1311 |
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 |
ENST00000461745 | 8963 | 1378 | 77634870 | 77635043 | 4662 | 4834 | 1254 | 1311 |
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 |
Q9HCK4 | 1254 | 1311 | 1186 | 1378 | Alternative sequence | ID=VSP_010647;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q9HCK4 | 1254 | 1311 | 22 | 1378 | Chain | ID=PRO_0000031036;Note=Roundabout homolog 2 |
Q9HCK4 | 1254 | 1311 | 881 | 1378 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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 |
Q9HCK4 | 1254 | 1311 | 1186 | 1378 | Alternative sequence | ID=VSP_010647;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q9HCK4 | 1254 | 1311 | 22 | 1378 | Chain | ID=PRO_0000031036;Note=Roundabout homolog 2 |
Q9HCK4 | 1254 | 1311 | 881 | 1378 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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 |
Q9HCK4 | 1254 | 1311 | 1186 | 1378 | Alternative sequence | ID=VSP_010647;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q9HCK4 | 1254 | 1311 | 22 | 1378 | Chain | ID=PRO_0000031036;Note=Roundabout homolog 2 |
Q9HCK4 | 1254 | 1311 | 881 | 1378 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Top |
3'-UTR located exon skipping events that lost miRNA binding sites in ROBO2 |
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 |
Top |
SNVs in the skipped exons for ROBO2 |
- 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 |
Top |
AD stage-associated exon skippint events for ROBO2 |
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 |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ROBO2 |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
Top |
Correlation with RNA binding proteins (RBPs) for ROBO2 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
HCC | RBM3 | exon_skip_271730 | -4.296859e-01 | 5.697077e-13 |
IFG | RBM6 | exon_skip_271730 | 4.369107e-01 | 2.897619e-02 |
IFG | CNOT4 | exon_skip_271730 | 4.759063e-01 | 1.618698e-02 |
IFG | PPRC1 | exon_skip_271730 | 4.950841e-01 | 1.186174e-02 |
Top |
RelatedDrugs for ROBO2 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for ROBO2 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |