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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 SYNPR |
 Gene summary |
| Gene information | Gene symbol | SYNPR | Gene ID | 132204 |
| Gene name | synaptoporin | |
| Synonyms | SPO | |
| Cytomap | 3p14.2 | |
| Type of gene | protein-coding | |
| Description | synaptoporin | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context | - 22745009(Multiple Loci Influencing Hippocampal Degeneration Identified by Genome Scan) |
| 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 SYNPR |
| 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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ENSG00000163630
| 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 |
| CB | UP | ENST00000465156.1 | SYNPR-205:protein_coding:SYNPR | 6.034614e+00 | 1.068331e+00 | 3.273626e-07 | 5.800190e-06 |
| CB | DOWN | ENST00000479198.5 | SYNPR-212:protein_coding:SYNPR | 3.446418e+01 | -1.019811e+00 | 1.240090e-03 | 6.189448e-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 SYNPR |
| 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_10952 | chr3 | 63556647:63556741:63561400:63561511:63609125:63609316 | 63561400:63561511 |
| exon_skip_11787 | chr3 | 63278677:63278742:63480832:63480956:63556543:63556741 | 63480832:63480956 |
| exon_skip_118407 | chr3 | 63278328:63278551:63278677:63278742:63480832:63480956 | 63278677:63278742 |
| exon_skip_135999 | chr3 | 63556543:63556741:63561400:63561511:63609125:63609316 | 63561400:63561511 |
| exon_skip_13655 | chr3 | 63278677:63278742:63480832:63480956:63556543:63556607 | 63480832:63480956 |
| exon_skip_141098 | chr3 | 63556647:63556741:63609125:63609316:63615224:63615595 | 63609125:63609316 |
| exon_skip_143957 | chr3 | 63609125:63609316:63610474:63610553:63615224:63616921 | 63610474:63610553 |
| exon_skip_155732 | chr3 | 63480832:63480956:63556543:63556741:63609125:63609313 | 63556543:63556741 |
| exon_skip_191451 | chr3 | 63278677:63278742:63289375:63289499:63480832:63480956 | 63289375:63289499 |
| exon_skip_205438 | chr3 | 63278666:63278742:63289375:63289499:63480832:63480956 | 63289375:63289499 |
| exon_skip_215852 | chr3 | 63278677:63278742:63480832:63480956:63556543:63556558 | 63480832:63480956 |
| exon_skip_215966 | chr3 | 63443333:63443469:63445544:63445576:63480832:63480956 | 63445544:63445576 |
| exon_skip_249994 | chr3 | 63480832:63480956:63556543:63556741:63609125:63609316 | 63556543:63556741 |
| exon_skip_259105 | chr3 | 63556543:63556741:63561400:63561511:63609125:63609168 | 63561400:63561511 |
| exon_skip_279536 | chr3 | 63609269:63609316:63610474:63610553:63615224:63615536 | 63610474:63610553 |
| exon_skip_285421 | chr3 | 63556673:63556741:63561400:63561511:63609125:63609316 | 63561400:63561511 |
| exon_skip_295953 | chr3 | 63443337:63443469:63452073:63452115:63480832:63480956 | 63452073:63452115 |
| exon_skip_35755 | chr3 | 63443337:63443469:63445544:63445576:63480832:63480956 | 63445544:63445576 |
| exon_skip_40717 | chr3 | 63556647:63556741:63609125:63609316:63615224:63615536 | 63609125:63609316 |
| exon_skip_53650 | chr3 | 63556543:63556741:63609125:63609316:63615224:63615536 | 63609125:63609316 |
| exon_skip_63181 | chr3 | 63278677:63278742:63330070:63330298:63480832:63480956 | 63330070:63330298 |
| exon_skip_72964 | chr3 | 63609125:63609316:63610474:63610553:63615224:63615536 | 63610474:63610553 |
| exon_skip_89910 | chr3 | 63480832:63480956:63556543:63556741:63609125:63609168 | 63556543:63556741 |
| 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 SYNPR |
| 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 |
| ENST00000295894 | 63556543 | 63556741 | Frame-shift |
| ENST00000295894 | 63609125 | 63609316 | 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 |
| ENST00000295894 | 63556543 | 63556741 | Frame-shift |
| ENST00000295894 | 63609125 | 63609316 | 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 |
| ENST00000295894 | 63556543 | 63556741 | Frame-shift |
| ENST00000295894 | 63609125 | 63609316 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SYNPR |
p-ENSG00000163630_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 |
| ENST00000295894 | 2624 | 265 | 63609125 | 63609316 | 719 | 909 | 116 | 180 |
| 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 |
| ENST00000295894 | 2624 | 265 | 63609125 | 63609316 | 719 | 909 | 116 | 180 |
| 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 |
| ENST00000295894 | 2624 | 265 | 63609125 | 63609316 | 719 | 909 | 116 | 180 |
| 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 |
| Q8TBG9 | 116 | 180 | 1 | 265 | Chain | ID=PRO_0000179157;Note=Synaptoporin |
| Q8TBG9 | 116 | 180 | 1 | 202 | Domain | Note=MARVEL;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00581 |
| Q8TBG9 | 116 | 180 | 136 | 177 | Topological domain | Note=Vesicular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8TBG9 | 116 | 180 | 115 | 135 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8TBG9 | 116 | 180 | 178 | 198 | Transmembrane | Note=Helical;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 |
| Q8TBG9 | 116 | 180 | 1 | 265 | Chain | ID=PRO_0000179157;Note=Synaptoporin |
| Q8TBG9 | 116 | 180 | 1 | 202 | Domain | Note=MARVEL;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00581 |
| Q8TBG9 | 116 | 180 | 136 | 177 | Topological domain | Note=Vesicular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8TBG9 | 116 | 180 | 115 | 135 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8TBG9 | 116 | 180 | 178 | 198 | Transmembrane | Note=Helical;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 |
| Q8TBG9 | 116 | 180 | 1 | 265 | Chain | ID=PRO_0000179157;Note=Synaptoporin |
| Q8TBG9 | 116 | 180 | 1 | 202 | Domain | Note=MARVEL;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00581 |
| Q8TBG9 | 116 | 180 | 136 | 177 | Topological domain | Note=Vesicular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8TBG9 | 116 | 180 | 115 | 135 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8TBG9 | 116 | 180 | 178 | 198 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in SYNPR |
| 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 SYNPR |
| - 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 SYNPR |
| 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 SYNPR |
| 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 SYNPR |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | RBM6 | exon_skip_236718 | -4.134775e-01 | 5.864364e-06 |
| CB | TRA2A | exon_skip_236718 | -4.436196e-01 | 9.637995e-07 |
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RelatedDrugs for SYNPR |
| 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 SYNPR |
| 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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