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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 SSPN |
 Gene summary |
| Gene information | Gene symbol | SSPN | Gene ID | 8082 |
| Gene name | sarcospan | |
| Synonyms | DAGA5|KRAG|NSPN|SPN1|SPN2 | |
| Cytomap | 12p12.1 | |
| Type of gene | protein-coding | |
| Description | sarcospanK-ras oncogene-associated proteinKras oncogene-associatedkirsten-ras-associated proteinmicrospannanospansarcospan (Kras oncogene-associated gene) | |
| Modification date | 20180519 | |
| UniProtAcc | Q14714 | |
| Context | PubMed: SSPN [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 SSPN 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 SSPN |
| 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 SSPN |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_80766 | 12 | 26348288:26348464:26377225:26377312:26383643:26383947 | 26377225:26377312 | ENSG00000123096.7 | ENST00000422622.2 |
| exon_skip_80767 | 12 | 26348605:26348884:26377225:26377312:26383643:26383947 | 26377225:26377312 | ENSG00000123096.7 | ENST00000242729.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SSPN |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_80766 | 12 | 26348288:26348464:26377225:26377312:26383643:26383947 | 26377225:26377312 | ENSG00000123096.7 | ENST00000422622.2 |
| exon_skip_80767 | 12 | 26348605:26348884:26377225:26377312:26383643:26383947 | 26377225:26377312 | ENSG00000123096.7 | ENST00000242729.2 |
| 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 SSPN |
| 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 |
| ENST00000242729 | 26377225 | 26377312 | 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 |
| ENST00000242729 | 26377225 | 26377312 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SSPN |
| 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 |
| ENST00000242729 | 2805 | 243 | 26377225 | 26377312 | 457 | 543 | 93 | 122 |
| 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 |
| ENST00000242729 | 2805 | 243 | 26377225 | 26377312 | 457 | 543 | 93 | 122 |
| 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 |
| Q14714 | 93 | 122 | 1 | 103 | Alternative sequence | ID=VSP_046351;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q14714 | 93 | 122 | 108 | 218 | Alternative sequence | ID=VSP_004431;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11230166,ECO:0000303|PubMed:9395445;Dbxref=PMID:11230166,PMID:9395445 |
| Q14714 | 93 | 122 | 1 | 243 | Chain | ID=PRO_0000072226;Note=Sarcospan |
| Q14714 | 93 | 122 | 108 | 122 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q14714 | 93 | 122 | 87 | 107 | 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 |
| Q14714 | 93 | 122 | 1 | 103 | Alternative sequence | ID=VSP_046351;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q14714 | 93 | 122 | 108 | 218 | Alternative sequence | ID=VSP_004431;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11230166,ECO:0000303|PubMed:9395445;Dbxref=PMID:11230166,PMID:9395445 |
| Q14714 | 93 | 122 | 1 | 243 | Chain | ID=PRO_0000072226;Note=Sarcospan |
| Q14714 | 93 | 122 | 108 | 122 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q14714 | 93 | 122 | 87 | 107 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for SSPN |
| - 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 |
| - 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 |
| RL952_ENDOMETRIUM | 26377226 | 26377312 | 26377259 | 26377259 | Missense_Mutation | C | T | p.L105F |
| NB13_AUTONOMIC_GANGLIA | 26377226 | 26377312 | 26377276 | 26377276 | Missense_Mutation | G | T | p.Q110H |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SSPN |
| 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 SSPN |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SSPN |
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RelatedDrugs for SSPN |
| 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 SSPN |
| 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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