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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 RIMS2 |
Gene summary |
Gene information | Gene symbol | RIMS2 | Gene ID | 9699 |
Gene name | regulating synaptic membrane exocytosis 2 | |
Synonyms | OBOE|RAB3IP3|RIM2 | |
Cytomap | 8q22.3 | |
Type of gene | protein-coding | |
Description | regulating synaptic membrane exocytosis protein 2RAB3 interacting protein 3Rab3-interacting proteinnon-small cell lung cancer RimL3a proteinnon-small cell lung cancer RimL3c proteinnuclear proteinrab-3-interacting molecule 2rab-3-interacting protei | |
Modification date | 20200313 | |
UniProtAcc | ||
Context | - 31929160(Single-Nucleotide Polymorphisms Associated With the Senescence-Accelerated Phenotype of OXYS Rats: A Focus on Alzheimer's Disease-Like and Age-Related-Macular-Degeneration-Like Pathologies) |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
RIMS2 | GO:1903861 | positive regulation of dendrite extension | 23999003 |
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Gene structures and expression levels for RIMS2 |
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 | ENST00000511046.1 | RIMS2-210:retained_intron:RIMS2 | 5.338892e+00 | -9.162302e-01 | 1.078120e-04 | 2.902122e-03 |
PG | DOWN | ENST00000262231.14 | RIMS2-201:protein_coding:RIMS2 | 1.314754e+02 | -8.335743e-01 | 1.093911e-03 | 1.559956e-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 RIMS2 |
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_103758 | chr8 | 103998185:103998250:104013442:104013621:104014506:104014615 | 104013442:104013621 |
exon_skip_113304 | chr8 | 103989305:103989421:103998185:103998250:104013442:104013621 | 103998185:103998250 |
exon_skip_13407 | chr8 | 104093471:104093643:104094478:104094729:104148607:104148848 | 104094478:104094729 |
exon_skip_139855 | chr8 | 103975350:103975506:103989305:103989421:104013442:104013621 | 103989305:103989421 |
exon_skip_141345 | chr8 | 104015424:104015456:104041326:104041358:104068512:104068612 | 104041326:104041358 |
exon_skip_146487 | chr8 | 103916414:103916537:103918441:103918487:103921672:103921784 | 103918441:103918487 |
exon_skip_148234 | chr8 | 103652205:103652237:103652624:103652710:103697086:103697296 | 103652624:103652710 |
exon_skip_149026 | chr8 | 103885298:103886223:103910134:103910201:103912053:103912172 | 103910134:103910201 |
exon_skip_156804 | chr8 | 103766227:103766537:103809280:103809321:103885298:103885994 | 103809280:103809321 |
exon_skip_158371 | chr8 | 104093590:104093643:104094478:104094729:104148607:104148848 | 104094478:104094729 |
exon_skip_160596 | chr8 | 104033660:104033698:104041326:104041358:104068512:104068612 | 104041326:104041358 |
exon_skip_172498 | chr8 | 104014506:104014615:104015424:104015456:104041329:104041358 | 104015424:104015456 |
exon_skip_17509 | chr8 | 104015424:104015456:104041329:104041358:104068512:104068612 | 104041329:104041358 |
exon_skip_175440 | chr8 | 103989305:103989421:104013442:104013621:104014506:104014615 | 104013442:104013621 |
exon_skip_193626 | chr8 | 103989305:103989421:103998185:103998250:104014506:104014614 | 103998185:103998250 |
exon_skip_209506 | chr8 | 104014506:104014615:104015424:104015456:104031680:104031769 | 104015424:104015456 |
exon_skip_210634 | chr8 | 103918441:103918487:103921672:103921784:103931263:103931393 | 103921672:103921784 |
exon_skip_242986 | chr8 | 103989305:103989421:103998185:103998250:104014506:104014615 | 103998185:103998250 |
exon_skip_254552 | chr8 | 103697086:103697296:103716309:103716320:103766227:103766537 | 103716309:103716320 |
exon_skip_266766 | chr8 | 104041329:104041358:104068512:104068612:104093471:104093643 | 104068512:104068612 |
exon_skip_275876 | chr8 | 104031680:104031769:104033660:104033698:104041326:104041358 | 104033660:104033698 |
exon_skip_278874 | chr8 | 103989305:103989421:104013442:104013621:104014506:104014614 | 104013442:104013621 |
exon_skip_282007 | chr8 | 103998212:103998250:104013442:104013621:104014506:104014615 | 104013442:104013621 |
exon_skip_282719 | chr8 | 104068512:104068612:104093471:104093643:104148607:104148848 | 104093471:104093643 |
exon_skip_290866 | chr8 | 103975350:103975506:103989305:103989421:103998185:103998250 | 103989305:103989421 |
exon_skip_291391 | chr8 | 103912132:103912172:103915495:103915594:103916414:103916537 | 103915495:103915594 |
exon_skip_296707 | chr8 | 104014506:104014615:104015424:104015456:104041326:104041358 | 104015424:104015456 |
exon_skip_35296 | chr8 | 103921672:103921784:103927842:103927889:103931263:103931393 | 103927842:103927889 |
exon_skip_39042 | chr8 | 103766227:103766537:103809280:103809321:103885298:103886210 | 103809280:103809321 |
exon_skip_67897 | chr8 | 103989305:103989421:103998185:103998250:104013442:104013484 | 103998185:103998250 |
exon_skip_70167 | chr8 | 103697086:103697296:103716309:103716320:103766227:103766484 | 103716309:103716320 |
exon_skip_74993 | chr8 | 103766524:103766537:103809280:103809321:103885298:103886223 | 103809280:103809321 |
exon_skip_78753 | chr8 | 103766227:103766537:103809280:103809321:103885298:103886223 | 103809280:103809321 |
exon_skip_82185 | chr8 | 103819387:103819629:103885298:103886223:103910134:103910201 | 103885298:103886223 |
exon_skip_87340 | chr8 | 103885298:103886223:103910321:103910529:103912053:103912172 | 103910321:103910529 |
exon_skip_88671 | chr8 | 104093471:104093643:104148607:104148848:104244916:104245057 | 104148607:104148848 |
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 RIMS2 |
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 |
ENST00000262231 | 103910321 | 103910529 | Frame-shift |
ENST00000262231 | 103915495 | 103915594 | Frame-shift |
ENST00000262231 | 103989305 | 103989421 | In-frame |
ENST00000262231 | 104013442 | 104013621 | 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 |
ENST00000262231 | 103910321 | 103910529 | Frame-shift |
ENST00000262231 | 103915495 | 103915594 | Frame-shift |
ENST00000262231 | 103989305 | 103989421 | In-frame |
ENST00000262231 | 104013442 | 104013621 | 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 |
ENST00000262231 | 103910321 | 103910529 | Frame-shift |
ENST00000262231 | 103915495 | 103915594 | Frame-shift |
ENST00000262231 | 103918441 | 103918487 | Frame-shift |
ENST00000262231 | 103921672 | 103921784 | Frame-shift |
ENST00000262231 | 103989305 | 103989421 | In-frame |
ENST00000262231 | 104013442 | 104013621 | In-frame |
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Infer the effects of exon skipping event on protein functional features for RIMS2 |
p-ENSG00000176406_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 RIMS2 |
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 RIMS2 |
- 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 RIMS2 |
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 |
CDR | MSBB | IFG | exon_skip_158371 | -3.860540e-01 | 4.244793e-02 | chr8 | + | 104093590 | 104093643 | 104094478 | 104094729 | 104148607 | 104148848 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RIMS2 |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
HCC | exon_skip_35296 | rs2935295 | chr8:103849134 | 1.260238e-09 | 3.692715e-07 |
PCC | exon_skip_175440 | rs7010706 | chr8:104030312 | 2.092219e-04 | 3.085819e-02 |
DLPFC | exon_skip_158371 | rs12155943 | chr8:104101837 | 2.021624e-05 | 2.088374e-03 |
DLPFC | exon_skip_158371 | rs13279907 | chr8:104110808 | 2.021624e-05 | 2.088374e-03 |
DLPFC | exon_skip_158371 | rs4512346 | chr8:104116524 | 2.667155e-05 | 2.667842e-03 |
DLPFC | exon_skip_175440 | rs13279844 | chr8:104068767 | 8.738123e-05 | 7.523929e-03 |
DLPFC | exon_skip_175440 | rs11984771 | chr8:104036067 | 9.684004e-05 | 8.207230e-03 |
DLPFC | exon_skip_175440 | rs10109799 | chr8:104039709 | 9.684004e-05 | 8.207230e-03 |
DLPFC | exon_skip_158371 | rs2340768 | chr8:104141558 | 3.325822e-04 | 2.340166e-02 |
DLPFC | exon_skip_175440 | rs35761468 | chr8:103933579 | 3.327594e-04 | 2.340427e-02 |
DLPFC | exon_skip_158371 | rs2511645 | chr8:104191292 | 4.086608e-04 | 2.752577e-02 |
DLPFC | exon_skip_158371 | rs7001645 | chr8:104111122 | 6.561953e-04 | 4.010714e-02 |
DLPFC | exon_skip_175440 | rs12155943 | chr8:104101837 | 7.771306e-04 | 4.561486e-02 |
DLPFC | exon_skip_175440 | rs13279907 | chr8:104110808 | 7.771306e-04 | 4.561486e-02 |
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Correlation with RNA binding proteins (RBPs) for RIMS2 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
DLPFC | PABPN1 | exon_skip_158371 | 4.149525e-01 | 3.019395e-13 |
DLPFC | RBM25 | exon_skip_158371 | 4.777425e-01 | 1.340839e-17 |
HCC | RBM3 | exon_skip_48480 | -4.678924e-01 | 5.515719e-16 |
IFG | RBM3 | exon_skip_35296 | 4.098854e-01 | 3.029410e-02 |
IFG | TIA1 | exon_skip_113304 | -4.516930e-01 | 1.582591e-02 |
IFG | PTBP1 | exon_skip_113304 | -4.835531e-01 | 9.136249e-03 |
IFG | SRSF11 | exon_skip_103758 | 4.500324e-01 | 1.626363e-02 |
IFG | RBM5 | exon_skip_103758 | 4.898632e-01 | 8.144270e-03 |
IFG | PCBP1 | exon_skip_103758 | 4.574876e-01 | 1.437404e-02 |
IFG | UNK | exon_skip_103758 | 5.346728e-01 | 3.376165e-03 |
IFG | PCBP2 | exon_skip_103758 | 4.978847e-01 | 7.015506e-03 |
IFG | RC3H1 | exon_skip_103758 | 4.619263e-01 | 1.333817e-02 |
IFG | SF1 | exon_skip_103758 | 5.092254e-01 | 5.646953e-03 |
IFG | ENOX1 | exon_skip_103758 | 4.574746e-01 | 1.437718e-02 |
IFG | PABPC1 | exon_skip_103758 | 4.947715e-01 | 7.436806e-03 |
IFG | SRSF2 | exon_skip_48480 | -4.733966e-01 | 1.094503e-02 |
IFG | RBM3 | exon_skip_48480 | -4.657170e-01 | 1.250339e-02 |
IFG | RBM3 | exon_skip_58134 | 4.377873e-01 | 4.716319e-02 |
IFG | SRSF1 | exon_skip_58134 | -4.866475e-01 | 2.527662e-02 |
PCC | RBM3 | exon_skip_58134 | 4.024127e-01 | 1.036272e-08 |
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RelatedDrugs for RIMS2 |
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 RIMS2 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |