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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 SPATA13 |
 Gene summary |
| Gene information | Gene symbol | SPATA13 | Gene ID | 221178 |
| Gene name | spermatogenesis associated 13 | |
| Synonyms | ARHGEF29|ASEF2 | |
| Cytomap | 13q12.12 | |
| Type of gene | protein-coding | |
| Description | spermatogenesis-associated protein 13APC-stimulated guanine nucleotide exchange factor 2adenomatous polyposis coli stimulated exchange factor 2 | |
| Modification date | 20180519 | |
| UniProtAcc | Q96N96 | |
| Context | PubMed: SPATA13 [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 SPATA13 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 SPATA13 |
| 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 SPATA13 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_99409 | 13 | 24860351:24860531:24860902:24861088:24863136:24863316 | 24860902:24861088 | ENSG00000182957.11 | ENST00000382108.3,ENST00000424834.2,ENST00000343003.6,ENST00000399949.2,ENST00000382095.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SPATA13 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_99409 | 13 | 24860351:24860531:24860902:24861088:24863136:24863316 | 24860902:24861088 | ENSG00000182957.11 | ENST00000424834.2,ENST00000382108.3,ENST00000382095.4,ENST00000399949.2,ENST00000343003.6 |
| 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 SPATA13 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for SPATA13 |
| 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 |
| 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 |
| 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 |
| 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 |
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SNVs in the skipped exons for SPATA13 |
| - 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 |
| PAAD | TCGA-IB-7651-01 | exon_skip_99409 | 24860903 | 24861088 | 24860906 | 24860906 | Nonsense_Mutation | C | T | p.R829* |
| PAAD | TCGA-IB-7651-01 | exon_skip_99409 | 24860903 | 24861088 | 24860906 | 24860906 | Nonsense_Mutation | C | T | p.R829X |
| - 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 |
| SC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 24860903 | 24861088 | 24860945 | 24860945 | Missense_Mutation | A | C | p.T217P |
| UMC11_LUNG | 24860903 | 24861088 | 24860948 | 24860948 | Missense_Mutation | C | T | p.P218S |
| KYM1_SOFT_TISSUE | 24860903 | 24861088 | 24860976 | 24860976 | Missense_Mutation | G | T | p.S227I |
| RKN_SOFT_TISSUE | 24860903 | 24861088 | 24861032 | 24861032 | Missense_Mutation | C | T | p.R246W |
| G402_SOFT_TISSUE | 24860903 | 24861088 | 24861066 | 24861066 | Missense_Mutation | A | G | p.K257R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SPATA13 |
| 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 SPATA13 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SPATA13 |
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RelatedDrugs for SPATA13 |
| 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 SPATA13 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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