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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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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 | 20180519 | |
| UniProtAcc | Q8TBG9 | |
| Context | PubMed: SYNPR [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| 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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Exon skipping events across known transcript of Ensembl for SYNPR from UCSC genome browser |
| Skipped exons in TCGA and GTEx 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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Gene isoform structures and expression levels for SYNPR |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for SYNPR |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_375733 | 3 | 63264003:63264227:63264352:63264418:63466507:63466632 | 63264352:63264418 | ENSG00000163630.6 | ENST00000478300.1,ENST00000468110.1 |
| exon_skip_375734 | 3 | 63264352:63264418:63275050:63275175:63466507:63466632 | 63275050:63275175 | ENSG00000163630.6 | ENST00000460142.2 |
| exon_skip_375735 | 3 | 63264326:63264418:63315745:63315974:63466507:63466632 | 63315745:63315974 | ENSG00000163630.6 | ENST00000496889.1 |
| exon_skip_375736 | 3 | 63264352:63264418:63466507:63466632:63542218:63542417 | 63466507:63466632 | ENSG00000163630.6 | ENST00000478300.1 |
| exon_skip_375737 | 3 | 63429008:63429145:63431219:63431252:63466507:63466632 | 63431219:63431252 | ENSG00000163630.6 | ENST00000460711.1 |
| exon_skip_375738 | 3 | 63428985:63429145:63437748:63437791:63466507:63466632 | 63437748:63437791 | ENSG00000163630.6 | ENST00000472899.1 |
| exon_skip_375739 | 3 | 63466507:63466632:63542218:63542417:63594800:63594992 | 63542218:63542417 | ENSG00000163630.6 | ENST00000479198.1,ENST00000478300.1,ENST00000295894.5,ENST00000460711.1,ENST00000493532.1 |
| exon_skip_375740 | 3 | 63542218:63542417:63547075:63547187:63594800:63594992 | 63547075:63547187 | ENSG00000163630.6 | ENST00000478744.1 |
| exon_skip_375741 | 3 | 63542218:63542417:63594800:63594992:63600899:63601212 | 63594800:63594992 | ENSG00000163630.6 | ENST00000478300.1,ENST00000295894.5,ENST00000460711.1,ENST00000450542.2 |
| exon_skip_375742 | 3 | 63594800:63594992:63596149:63596229:63600899:63601212 | 63596149:63596229 | ENSG00000163630.6 | ENST00000479198.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SYNPR |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_375733 | 3 | 63264003:63264227:63264352:63264418:63466507:63466632 | 63264352:63264418 | ENSG00000163630.6 | ENST00000478300.1,ENST00000468110.1 |
| exon_skip_375734 | 3 | 63264352:63264418:63275050:63275175:63466507:63466632 | 63275050:63275175 | ENSG00000163630.6 | ENST00000460142.2 |
| exon_skip_375735 | 3 | 63264326:63264418:63315745:63315974:63466507:63466632 | 63315745:63315974 | ENSG00000163630.6 | ENST00000496889.1 |
| exon_skip_375736 | 3 | 63264352:63264418:63466507:63466632:63542218:63542417 | 63466507:63466632 | ENSG00000163630.6 | ENST00000478300.1 |
| exon_skip_375737 | 3 | 63429008:63429145:63431219:63431252:63466507:63466632 | 63431219:63431252 | ENSG00000163630.6 | ENST00000460711.1 |
| exon_skip_375738 | 3 | 63428985:63429145:63437748:63437791:63466507:63466632 | 63437748:63437791 | ENSG00000163630.6 | ENST00000472899.1 |
| exon_skip_375739 | 3 | 63466507:63466632:63542218:63542417:63594800:63594992 | 63542218:63542417 | ENSG00000163630.6 | ENST00000478300.1,ENST00000493532.1,ENST00000295894.5,ENST00000479198.1,ENST00000460711.1 |
| exon_skip_375740 | 3 | 63542218:63542417:63547075:63547187:63594800:63594992 | 63547075:63547187 | ENSG00000163630.6 | ENST00000478744.1 |
| exon_skip_375741 | 3 | 63542218:63542417:63594800:63594992:63600899:63601212 | 63594800:63594992 | ENSG00000163630.6 | ENST00000478300.1,ENST00000450542.2,ENST00000295894.5,ENST00000460711.1 |
| exon_skip_375742 | 3 | 63594800:63594992:63596149:63596229:63600899:63601212 | 63596149:63596229 | ENSG00000163630.6 | ENST00000479198.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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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 TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000295894 | 63542218 | 63542417 | Frame-shift |
| ENST00000295894 | 63594800 | 63594992 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000295894 | 63542218 | 63542417 | Frame-shift |
| ENST00000295894 | 63594800 | 63594992 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SYNPR |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA 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 | 63594800 | 63594992 | 718 | 909 | 116 | 180 |
| Loci of skipped exons in GTEx 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 | 63594800 | 63594992 | 718 | 909 | 116 | 180 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| 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 GTEx. |
| 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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SNVs in the skipped exons for SYNPR |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| COAD | TCGA-AY-6197-01 | exon_skip_375736 | 63466508 | 63466632 | 63466509 | 63466509 | Frame_Shift_Del | T | - | p.L9fs |
| UCEC | TCGA-B5-A0JZ-01 | exon_skip_375736 | 63466508 | 63466632 | 63466509 | 63466509 | Frame_Shift_Del | T | - | p.L29_splice |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_375739 | 63542219 | 63542417 | 63542385 | 63542385 | Frame_Shift_Del | A | - | p.K126fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_375741 | 63594801 | 63594992 | 63594939 | 63594939 | Frame_Shift_Del | A | - | p.N183fs |
| LUAD | TCGA-44-8119-01 | exon_skip_375739 | 63542219 | 63542417 | 63542296 | 63542296 | Nonsense_Mutation | C | A | p.S96* |
| SKCM | TCGA-WE-AAA3-06 | exon_skip_375739 | 63542219 | 63542417 | 63542379 | 63542379 | Nonsense_Mutation | C | T | p.Q124* |
| BRCA | TCGA-AR-A256-01 | exon_skip_375736 | 63466508 | 63466632 | 63466633 | 63466633 | Splice_Site | G | A | e3+1 |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| NCIH1339_LUNG | 63466508 | 63466632 | 63466560 | 63466560 | Frame_Shift_Del | G | - | p.R26fs |
| NCIH1339_LUNG | 63466508 | 63466632 | 63466568 | 63466568 | Missense_Mutation | G | C | p.V29L |
| SNU1040_LARGE_INTESTINE | 63466508 | 63466632 | 63466614 | 63466614 | Missense_Mutation | C | T | p.A44V |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 63542219 | 63542417 | 63542398 | 63542398 | Missense_Mutation | A | G | p.N110S |
| JMSU1_URINARY_TRACT | 63594801 | 63594992 | 63594850 | 63594850 | Missense_Mutation | C | T | p.S133L |
| MCC13_SKIN | 63594801 | 63594992 | 63594856 | 63594856 | Missense_Mutation | G | T | p.W135L |
| ZR751_BREAST | 63594801 | 63594992 | 63594919 | 63594919 | Missense_Mutation | C | T | p.S156L |
| YMB1E_BREAST | 63594801 | 63594992 | 63594919 | 63594919 | Missense_Mutation | C | T | p.S156L |
| KMS11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 63594801 | 63594992 | 63594952 | 63594952 | Missense_Mutation | C | T | p.A167V |
| NCIH1573_LUNG | 63594801 | 63594992 | 63594963 | 63594963 | Missense_Mutation | C | A | p.P171T |
| HCT15_LARGE_INTESTINE | 63542219 | 63542417 | 63542256 | 63542256 | Nonsense_Mutation | G | T | p.G63* |
| HEC108_ENDOMETRIUM | 63542219 | 63542417 | 63542379 | 63542379 | Nonsense_Mutation | C | T | p.Q104* |
| SNU324_PANCREAS | 63466508 | 63466632 | 63466631 | 63466631 | Splice_Site | A | G | p.R50G |
| LNCAPCLONEFGC_PROSTATE | 63466508 | 63466632 | 63466632 | 63466632 | Splice_Site | G | T | p.R50M |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SYNPR |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SYNPR |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SYNPR |
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RelatedDrugs for SYNPR |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | 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 |
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