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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 SPATA7 |
 Gene summary |
| Gene information | Gene symbol | SPATA7 | Gene ID | 55812 |
| Gene name | spermatogenesis associated 7 | |
| Synonyms | HEL-S-296|HSD-3.1|HSD3|LCA3 | |
| Cytomap | 14q31.3 | |
| Type of gene | protein-coding | |
| Description | spermatogenesis-associated protein 7epididymis secretory protein Li 296epididymis secretory sperm binding proteinspermatogenesis-associated protein HSD3 | |
| Modification date | 20200328 | |
| 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 SPATA7 |
| 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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ENSG00000042317
| 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 | ENST00000556666.5 | SPATA7-218:retained_intron:SPATA7 | 8.038994e+01 | -8.585916e-01 | 1.139667e-03 | 5.770195e-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 SPATA7 |
| 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_117772 | chr14 | 88414674:88414732:88415205:88415266:88416711:88416761 | 88415205:88415266 |
| exon_skip_125630 | chr14 | 88391381:88391455:88393393:88393488:88396156:88396184 | 88393393:88393488 |
| exon_skip_151927 | chr14 | 88433157:88433212:88437543:88437597:88437838:88437903 | 88437543:88437597 |
| exon_skip_164083 | chr14 | 88429348:88429463:88431172:88431225:88433135:88433212 | 88431172:88431225 |
| exon_skip_179709 | chr14 | 88391381:88391455:88391598:88391758:88393393:88393488 | 88391598:88391758 |
| exon_skip_187093 | chr14 | 88391385:88391455:88393393:88393488:88396156:88396184 | 88393393:88393488 |
| exon_skip_215522 | chr14 | 88396156:88396203:88414674:88414732:88415205:88415266 | 88414674:88414732 |
| exon_skip_240788 | chr14 | 88396156:88396203:88415205:88415266:88416711:88416761 | 88415205:88415266 |
| exon_skip_254398 | chr14 | 88396156:88396203:88414674:88414732:88416711:88416761 | 88414674:88414732 |
| exon_skip_259448 | chr14 | 88396156:88396203:88406683:88406736:88416711:88416844 | 88406683:88406736 |
| exon_skip_37316 | chr14 | 88385690:88385837:88391381:88391455:88396156:88396203 | 88391381:88391455 |
| 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 SPATA7 |
| 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 |
| ENST00000393545 | 88437543 | 88437597 | Frame-shift |
| ENST00000393545 | 88393393 | 88393488 | In-frame |
| ENST00000393545 | 88431172 | 88431225 | 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 |
| ENST00000393545 | 88393393 | 88393488 | In-frame |
| ENST00000393545 | 88431172 | 88431225 | 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 |
| ENST00000393545 | 88393393 | 88393488 | In-frame |
| ENST00000393545 | 88431172 | 88431225 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SPATA7 |
p-ENSG00000042317_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 |
| ENST00000393545 | 2140 | 599 | 88393393 | 88393488 | 385 | 479 | 32 | 63 |
| ENST00000393545 | 2140 | 599 | 88431172 | 88431225 | 1319 | 1371 | 343 | 360 |
| 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 |
| ENST00000393545 | 2140 | 599 | 88393393 | 88393488 | 385 | 479 | 32 | 63 |
| ENST00000393545 | 2140 | 599 | 88431172 | 88431225 | 1319 | 1371 | 343 | 360 |
| 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 |
| ENST00000393545 | 2140 | 599 | 88393393 | 88393488 | 385 | 479 | 32 | 63 |
| ENST00000393545 | 2140 | 599 | 88431172 | 88431225 | 1319 | 1371 | 343 | 360 |
| 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 |
| Q9P0W8 | 32 | 63 | 32 | 63 | Alternative sequence | ID=VSP_008341;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11230166,ECO:0000303|PubMed:15489334;Dbxref=PMID:11230166,PMID:15489334 |
| Q9P0W8 | 32 | 63 | 1 | 599 | Chain | ID=PRO_0000072104;Note=Spermatogenesis-associated protein 7 |
| Q9P0W8 | 343 | 360 | 1 | 599 | Chain | ID=PRO_0000072104;Note=Spermatogenesis-associated protein 7 |
| 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 |
| Q9P0W8 | 32 | 63 | 32 | 63 | Alternative sequence | ID=VSP_008341;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11230166,ECO:0000303|PubMed:15489334;Dbxref=PMID:11230166,PMID:15489334 |
| Q9P0W8 | 32 | 63 | 1 | 599 | Chain | ID=PRO_0000072104;Note=Spermatogenesis-associated protein 7 |
| Q9P0W8 | 343 | 360 | 1 | 599 | Chain | ID=PRO_0000072104;Note=Spermatogenesis-associated protein 7 |
| 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 |
| Q9P0W8 | 32 | 63 | 32 | 63 | Alternative sequence | ID=VSP_008341;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11230166,ECO:0000303|PubMed:15489334;Dbxref=PMID:11230166,PMID:15489334 |
| Q9P0W8 | 32 | 63 | 1 | 599 | Chain | ID=PRO_0000072104;Note=Spermatogenesis-associated protein 7 |
| Q9P0W8 | 343 | 360 | 1 | 599 | Chain | ID=PRO_0000072104;Note=Spermatogenesis-associated protein 7 |
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3'-UTR located exon skipping events that lost miRNA binding sites in SPATA7 |
| 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 SPATA7 |
| - 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 SPATA7 |
| 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 SPATA7 |
| 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 SPATA7 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | TRA2A | exon_skip_164083 | -4.266591e-01 | 2.047631e-08 |
| IFG | DAZAP1 | exon_skip_125630 | 4.783754e-01 | 3.287521e-02 |
| IFG | RBMS3 | exon_skip_125630 | 4.977444e-01 | 2.553257e-02 |
| IFG | SAMD4A | exon_skip_125630 | 4.828883e-01 | 3.103268e-02 |
| IFG | RBM24 | exon_skip_125630 | 5.037594e-01 | 2.353804e-02 |
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RelatedDrugs for SPATA7 |
| 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 SPATA7 |
| 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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