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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 SPATA20 |
 Gene summary |
| Gene information | Gene symbol | SPATA20 | Gene ID | 64847 |
| Gene name | spermatogenesis associated 20 | |
| Synonyms | HEL-S-98|SSP411|Tisp78 | |
| Cytomap | 17q21.33 | |
| Type of gene | protein-coding | |
| Description | spermatogenesis-associated protein 20epididymis secretory protein Li 98sperm protein SSP411sperm-specific protein 411transcript increased in spermiogenesis 78 | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context |
| 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 SPATA20 |
| 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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ENSG00000006282
| 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 | DOWN | ENST00000504334.5 | SPATA20-208:nonsense_mediated_decay:SPATA20 | 1.708583e+01 | -2.310150e+00 | 1.521188e-05 | 1.504835e-04 |
| CB | UP | ENST00000510917.5 | SPATA20-216:nonsense_mediated_decay:SPATA20 | 1.483872e+01 | 1.604332e+00 | 3.445880e-04 | 2.105490e-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 SPATA20 |
| 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_101174 | chr17 | 50548289:50548453:50548554:50548618:50548810:50548863 | 50548554:50548618 |
| exon_skip_112092 | chr17 | 50550536:50550610:50550708:50550917:50551511:50551669 | 50550708:50550917 |
| exon_skip_116335 | chr17 | 50549043:50549186:50549286:50549487:50549985:50550106 | 50549286:50549487 |
| exon_skip_124311 | chr17 | 50550536:50550610:50550708:50551190:50551511:50551669 | 50550708:50551190 |
| exon_skip_143616 | chr17 | 50550734:50550917:50550998:50551190:50551511:50551669 | 50550998:50551190 |
| exon_skip_156441 | chr17 | 50547209:50547285:50547665:50547954:50548283:50548453 | 50547665:50547954 |
| exon_skip_158749 | chr17 | 50550708:50550917:50550998:50551222:50551511:50551679 | 50550998:50551222 |
| exon_skip_196376 | chr17 | 50547720:50547767:50548043:50548161:50548283:50548453 | 50548043:50548161 |
| exon_skip_214008 | chr17 | 50547209:50547285:50547720:50547767:50548283:50548453 | 50547720:50547767 |
| exon_skip_257986 | chr17 | 50549043:50549186:50549286:50549487:50549985:50550111 | 50549286:50549487 |
| exon_skip_264044 | chr17 | 50547209:50547285:50547665:50547767:50548283:50548453 | 50547665:50547767 |
| exon_skip_272325 | chr17 | 50550734:50550917:50550998:50551222:50551511:50551679 | 50550998:50551222 |
| exon_skip_278096 | chr17 | 50551511:50551679:50551969:50552180:50554251:50554450 | 50551969:50552180 |
| exon_skip_281012 | chr17 | 50550734:50550917:50550998:50551222:50551511:50551669 | 50550998:50551222 |
| exon_skip_287253 | chr17 | 50547209:50547285:50547720:50547767:50548043:50548161 | 50547720:50547767 |
| exon_skip_290590 | chr17 | 50549043:50549186:50549286:50549487:50549985:50550115 | 50549286:50549487 |
| exon_skip_32578 | chr17 | 50550998:50551190:50551511:50551679:50551969:50551985 | 50551511:50551679 |
| exon_skip_34455 | chr17 | 50547209:50547285:50547665:50547767:50548043:50548161 | 50547665:50547767 |
| exon_skip_36728 | chr17 | 50548283:50548453:50548554:50548618:50548810:50548863 | 50548554:50548618 |
| exon_skip_77919 | chr17 | 50550708:50550917:50550998:50551190:50551511:50551679 | 50550998:50551190 |
| exon_skip_80886 | chr17 | 50547209:50547285:50547720:50547954:50548283:50548453 | 50547720:50547954 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_156441 | Mayo_TC | 1.100000e-01 | 2.274545e-01 | -1.174545e-01 | 6.640347e-03 |
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Open reading frame (ORF) annotation in the exon skipping event for SPATA20 |
| 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 |
| ENST00000356488 | 50548554 | 50548618 | Frame-shift |
| ENST00000356488 | 50549286 | 50549487 | Frame-shift |
| ENST00000356488 | 50550998 | 50551190 | Frame-shift |
| ENST00000356488 | 50551511 | 50551679 | Frame-shift |
| 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 |
| ENST00000356488 | 50549286 | 50549487 | Frame-shift |
| 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 |
| ENST00000356488 | 50548554 | 50548618 | Frame-shift |
| ENST00000356488 | 50549286 | 50549487 | Frame-shift |
| ENST00000356488 | 50550998 | 50551190 | Frame-shift |
| ENST00000356488 | 50551511 | 50551679 | Frame-shift |
| ENST00000356488 | 50551969 | 50552180 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for SPATA20 |
p-ENSG00000006282_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 SPATA20 |
| 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 SPATA20 |
| - 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 SPATA20 |
| 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 SPATA20 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| CB | exon_skip_80886 | rs8068726 | chr17:50515773 | 9.245103e-07 | 3.314227e-04 |
| CB | exon_skip_264044 | rs8068726 | chr17:50515773 | 3.815141e-05 | 7.847285e-03 |
| TC | exon_skip_156441 | rs8068726 | chr17:50515773 | 3.794479e-05 | 7.472615e-03 |
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Correlation with RNA binding proteins (RBPs) for SPATA20 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for SPATA20 |
| 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 SPATA20 |
| 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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