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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 RIN3 |
 Gene summary |
| Gene information | Gene symbol | RIN3 | Gene ID | 79890 |
| Gene name | Ras and Rab interactor 3 | |
| Synonyms | - | |
| Cytomap | 14q32.12 | |
| Type of gene | protein-coding | |
| Description | ras and Rab interactor 3RAB5 interacting protein 3ras interaction/interference protein 3 | |
| Modification date | 20200320 | |
| UniProtAcc | ||
| Context | - 32552912(Upregulation of RIN3 induces endosomal dysfunction in Alzheimer's disease) |
| 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 RIN3 |
| 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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ENSG00000100599
| 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 |
| PG | UP | ENST00000620541.4 | RIN3-212:protein_coding:RIN3 | 3.952216e+01 | 1.103023e+00 | 1.018015e-04 | 2.782318e-03 |
| 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 RIN3 |
| 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_129642 | chr14 | 92577360:92577477:92615407:92615479:92641238:92641329 | 92615407:92615479 |
| exon_skip_197372 | chr14 | 92659385:92659469:92676533:92676606:92684987:92685150 | 92676533:92676606 |
| exon_skip_54489 | chr14 | 92641238:92641329:92651582:92653075:92659161:92659469 | 92651582:92653075 |
| exon_skip_68615 | chr14 | 92659385:92659469:92676475:92676606:92684987:92685150 | 92676475:92676606 |
| 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 RIN3 |
| 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 |
| ENST00000216487 | 92615407 | 92615479 | Frame-shift |
| ENST00000216487 | 92676475 | 92676606 | 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 |
| ENST00000216487 | 92615407 | 92615479 | Frame-shift |
| 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 |
| ENST00000216487 | 92615407 | 92615479 | Frame-shift |
| ENST00000216487 | 92651582 | 92653075 | In-frame |
| ENST00000216487 | 92676475 | 92676606 | In-frame |
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Infer the effects of exon skipping event on protein functional features for RIN3 |
p-ENSG00000100599_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 |
| ENST00000216487 | 3876 | 985 | 92676475 | 92676606 | 2496 | 2626 | 779 | 822 |
| 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 |
| ENST00000216487 | 3876 | 985 | 92651582 | 92653075 | 693 | 2185 | 178 | 675 |
| ENST00000216487 | 3876 | 985 | 92676475 | 92676606 | 2496 | 2626 | 779 | 822 |
| 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 |
| Q8TB24 | 779 | 822 | 1 | 985 | Chain | ID=PRO_0000191322;Note=Ras and Rab interactor 3 |
| Q8TB24 | 779 | 822 | 703 | 846 | Domain | Note=VPS9;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00550 |
| 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 |
| Q8TB24 | 178 | 675 | 1 | 985 | Chain | ID=PRO_0000191322;Note=Ras and Rab interactor 3 |
| Q8TB24 | 178 | 675 | 248 | 514 | Compositional bias | Note=Pro-rich |
| Q8TB24 | 178 | 675 | 215 | 215 | Natural variant | ID=VAR_059960;Note=H->L;Dbxref=dbSNP:rs3829947 |
| Q8TB24 | 178 | 675 | 215 | 215 | Natural variant | ID=VAR_046646;Note=H->P;Dbxref=dbSNP:rs3829947 |
| Q8TB24 | 178 | 675 | 215 | 215 | Natural variant | ID=VAR_059961;Note=H->R;Dbxref=dbSNP:rs3829947 |
| Q8TB24 | 178 | 675 | 425 | 425 | Natural variant | ID=VAR_052946;Note=T->I;Dbxref=dbSNP:rs3742717 |
| Q8TB24 | 178 | 675 | 425 | 425 | Natural variant | ID=VAR_046647;Note=T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14702039;Dbxref=dbSNP:rs3742717,PMID:14702039 |
| Q8TB24 | 178 | 675 | 613 | 613 | Natural variant | ID=VAR_046648;Note=G->A;Dbxref=dbSNP:rs12434929 |
| Q8TB24 | 178 | 675 | 587 | 732 | Region | Note=Interaction with RAB5B;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12972505;Dbxref=PMID:12972505 |
| Q8TB24 | 779 | 822 | 1 | 985 | Chain | ID=PRO_0000191322;Note=Ras and Rab interactor 3 |
| Q8TB24 | 779 | 822 | 703 | 846 | Domain | Note=VPS9;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00550 |
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3'-UTR located exon skipping events that lost miRNA binding sites in RIN3 |
| 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 RIN3 |
| - 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 RIN3 |
| 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 RIN3 |
| 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 RIN3 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for RIN3 |
| 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 RIN3 |
| 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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