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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 SPATA6 |
 Gene summary |
| Gene information | Gene symbol | SPATA6 | Gene ID | 54558 |
| Gene name | spermatogenesis associated 6 | |
| Synonyms | HASH|SRF-1|SRF1 | |
| Cytomap | 1p33 | |
| Type of gene | protein-coding | |
| Description | spermatogenesis-associated protein 6spermatogenesis-related factor-1testicular tissue protein Li 178 | |
| Modification date | 20180519 | |
| UniProtAcc | Q9NWH7 | |
| Context | PubMed: SPATA6 [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 SPATA6 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 SPATA6 |
| 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 SPATA6 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_26620 | 1 | 48764319:48764565:48771458:48771550:48821341:48821441 | 48771458:48771550 | ENSG00000132122.7 | ENST00000396199.3,ENST00000603831.1,ENST00000371847.3 |
| exon_skip_26621 | 1 | 48764319:48764565:48771458:48771550:48821389:48821441 | 48771458:48771550 | ENSG00000132122.7 | ENST00000371843.3 |
| exon_skip_26623 | 1 | 48771476:48771550:48821341:48821441:48825257:48825394 | 48821341:48821441 | ENSG00000132122.7 | ENST00000490850.1,ENST00000396199.3,ENST00000603831.1,ENST00000371847.3 |
| exon_skip_26624 | 1 | 48771476:48771550:48821389:48821441:48825257:48825394 | 48821389:48821441 | ENSG00000132122.7 | ENST00000371843.3,ENST00000371841.1 |
| exon_skip_26628 | 1 | 48850980:48851021:48858926:48858972:48860938:48861026 | 48858926:48858972 | ENSG00000132122.7 | ENST00000603831.1 |
| exon_skip_26629 | 1 | 48865254:48865316:48869473:48869554:48877135:48877260 | 48869473:48869554 | ENSG00000132122.7 | ENST00000487543.1,ENST00000371843.3,ENST00000396199.3,ENST00000463938.1,ENST00000371847.3 |
| exon_skip_26633 | 1 | 48869473:48869554:48877135:48877260:48917223:48917258 | 48877135:48877260 | ENSG00000132122.7 | ENST00000396199.3 |
| exon_skip_26635 | 1 | 48869473:48869554:48877135:48877276:48917223:48917272 | 48877135:48877276 | ENSG00000132122.7 | ENST00000487543.1 |
| exon_skip_26637 | 1 | 48877135:48877260:48878781:48878823:48917223:48917258 | 48878781:48878823 | ENSG00000132122.7 | ENST00000371843.3,ENST00000371847.3 |
| exon_skip_26638 | 1 | 48877135:48877260:48878781:48878823:48918665:48918803 | 48878781:48878823 | ENSG00000132122.7 | ENST00000463938.1 |
| exon_skip_26641 | 1 | 48877135:48877260:48917223:48917272:48918665:48918803 | 48917223:48917272 | ENSG00000132122.7 | ENST00000396199.3 |
| exon_skip_26642 | 1 | 48877135:48877276:48878781:48878823:48917223:48917272 | 48878781:48878823 | ENSG00000132122.7 | ENST00000471975.2 |
| exon_skip_26643 | 1 | 48878781:48878823:48902004:48902095:48917223:48917258 | 48902004:48902095 | ENSG00000132122.7 | ENST00000465990.1 |
| exon_skip_26645 | 1 | 48878781:48878823:48917223:48917272:48918665:48918803 | 48917223:48917272 | ENSG00000132122.7 | ENST00000371843.3,ENST00000471975.2,ENST00000371847.3 |
| exon_skip_26646 | 1 | 48878781:48878823:48918665:48918803:48937629:48937682 | 48918665:48918803 | ENSG00000132122.7 | ENST00000463938.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SPATA6 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_26620 | 1 | 48764319:48764565:48771458:48771550:48821341:48821441 | 48771458:48771550 | ENSG00000132122.7 | ENST00000371847.3,ENST00000603831.1,ENST00000396199.3 |
| exon_skip_26621 | 1 | 48764319:48764565:48771458:48771550:48821389:48821441 | 48771458:48771550 | ENSG00000132122.7 | ENST00000371843.3 |
| exon_skip_26623 | 1 | 48771476:48771550:48821341:48821441:48825257:48825394 | 48821341:48821441 | ENSG00000132122.7 | ENST00000371847.3,ENST00000603831.1,ENST00000396199.3,ENST00000490850.1 |
| exon_skip_26624 | 1 | 48771476:48771550:48821389:48821441:48825257:48825394 | 48821389:48821441 | ENSG00000132122.7 | ENST00000371843.3,ENST00000371841.1 |
| exon_skip_26628 | 1 | 48850980:48851021:48858926:48858972:48860938:48861026 | 48858926:48858972 | ENSG00000132122.7 | ENST00000603831.1 |
| exon_skip_26629 | 1 | 48865254:48865316:48869473:48869554:48877135:48877260 | 48869473:48869554 | ENSG00000132122.7 | ENST00000371847.3,ENST00000371843.3,ENST00000396199.3,ENST00000463938.1,ENST00000487543.1 |
| exon_skip_26633 | 1 | 48869473:48869554:48877135:48877260:48917223:48917258 | 48877135:48877260 | ENSG00000132122.7 | ENST00000396199.3 |
| exon_skip_26635 | 1 | 48869473:48869554:48877135:48877276:48917223:48917272 | 48877135:48877276 | ENSG00000132122.7 | ENST00000487543.1 |
| exon_skip_26637 | 1 | 48877135:48877260:48878781:48878823:48917223:48917258 | 48878781:48878823 | ENSG00000132122.7 | ENST00000371847.3,ENST00000371843.3 |
| exon_skip_26638 | 1 | 48877135:48877260:48878781:48878823:48918665:48918803 | 48878781:48878823 | ENSG00000132122.7 | ENST00000463938.1 |
| exon_skip_26641 | 1 | 48877135:48877260:48917223:48917272:48918665:48918803 | 48917223:48917272 | ENSG00000132122.7 | ENST00000396199.3 |
| exon_skip_26642 | 1 | 48877135:48877276:48878781:48878823:48917223:48917272 | 48878781:48878823 | ENSG00000132122.7 | ENST00000471975.2 |
| exon_skip_26643 | 1 | 48878781:48878823:48902004:48902095:48917223:48917258 | 48902004:48902095 | ENSG00000132122.7 | ENST00000465990.1 |
| exon_skip_26645 | 1 | 48878781:48878823:48917223:48917272:48918665:48918803 | 48917223:48917272 | ENSG00000132122.7 | ENST00000371847.3,ENST00000371843.3,ENST00000471975.2 |
| exon_skip_26646 | 1 | 48878781:48878823:48918665:48918803:48937629:48937682 | 48918665:48918803 | ENSG00000132122.7 | ENST00000463938.1 |
| 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 SPATA6 |
| 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 |
| ENST00000371847 | 48771458 | 48771550 | Frame-shift |
| ENST00000371847 | 48821341 | 48821441 | Frame-shift |
| ENST00000371847 | 48917223 | 48917272 | Frame-shift |
| ENST00000371847 | 48869473 | 48869554 | In-frame |
| ENST00000371847 | 48878781 | 48878823 | 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 |
| ENST00000371847 | 48771458 | 48771550 | Frame-shift |
| ENST00000371847 | 48821341 | 48821441 | Frame-shift |
| ENST00000371847 | 48917223 | 48917272 | Frame-shift |
| ENST00000371847 | 48869473 | 48869554 | In-frame |
| ENST00000371847 | 48878781 | 48878823 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SPATA6 |
| 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 |
| ENST00000371847 | 4990 | 488 | 48878781 | 48878823 | 404 | 445 | 79 | 93 |
| ENST00000371847 | 4990 | 488 | 48869473 | 48869554 | 571 | 651 | 135 | 162 |
| 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 |
| ENST00000371847 | 4990 | 488 | 48878781 | 48878823 | 404 | 445 | 79 | 93 |
| ENST00000371847 | 4990 | 488 | 48869473 | 48869554 | 571 | 651 | 135 | 162 |
| 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 |
| Q9NWH7 | 79 | 93 | 21 | 488 | Chain | ID=PRO_0000278441;Note=Spermatogenesis-associated protein 6 |
| Q9NWH7 | 135 | 162 | 21 | 488 | Chain | ID=PRO_0000278441;Note=Spermatogenesis-associated protein 6 |
| 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 |
| Q9NWH7 | 79 | 93 | 21 | 488 | Chain | ID=PRO_0000278441;Note=Spermatogenesis-associated protein 6 |
| Q9NWH7 | 135 | 162 | 21 | 488 | Chain | ID=PRO_0000278441;Note=Spermatogenesis-associated protein 6 |
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SNVs in the skipped exons for SPATA6 |
| - 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 |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_26620 exon_skip_26621 | 48771459 | 48771550 | 48771505 | 48771505 | Frame_Shift_Del | T | - | p.S414fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_26620 exon_skip_26621 | 48771459 | 48771550 | 48771508 | 48771508 | Frame_Shift_Del | T | - | p.R413fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_26620 exon_skip_26621 | 48771459 | 48771550 | 48771517 | 48771517 | Frame_Shift_Del | C | - | p.E410fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_26623 exon_skip_26624 | 48821342 | 48821441 | 48821382 | 48821382 | Frame_Shift_Del | T | - | p.N385fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_26623 exon_skip_26624 | 48821342 | 48821441 | 48821382 | 48821382 | Frame_Shift_Del | T | - | p.N385fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_26623 exon_skip_26624 | 48821342 | 48821441 | 48821382 | 48821382 | Frame_Shift_Del | T | - | p.N385fs |
| STAD | TCGA-BR-8382-01 | exon_skip_26623 exon_skip_26624 | 48821342 | 48821441 | 48821382 | 48821382 | Frame_Shift_Del | T | - | p.N385fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_26629 | 48869474 | 48869554 | 48869530 | 48869530 | Frame_Shift_Del | A | - | p.S144fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_26633 | 48877136 | 48877260 | 48877209 | 48877209 | Frame_Shift_Del | G | - | p.P111fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_26635 | 48877136 | 48877276 | 48877209 | 48877209 | Frame_Shift_Del | G | - | p.P111fs |
| LUSC | TCGA-22-4607-01 | exon_skip_26620 exon_skip_26621 | 48771459 | 48771550 | 48771547 | 48771547 | Nonsense_Mutation | C | A | p.E400* |
| LUSC | TCGA-66-2771-01 | exon_skip_26620 exon_skip_26621 | 48771459 | 48771550 | 48771547 | 48771547 | Nonsense_Mutation | C | A | p.E400* |
| UCEC | TCGA-B5-A11H-01 | exon_skip_26633 | 48877136 | 48877260 | 48877138 | 48877138 | Nonsense_Mutation | G | A | p.R135* |
| UCEC | TCGA-B5-A11H-01 | exon_skip_26635 | 48877136 | 48877276 | 48877138 | 48877138 | Nonsense_Mutation | G | A | p.R135* |
| - 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 |
| SKMEL2_SKIN | 48771459 | 48771550 | 48771535 | 48771535 | Missense_Mutation | C | T | p.E404K |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48821342 | 48821441 | 48821358 | 48821358 | Missense_Mutation | T | C | p.H393R |
| HEC151_ENDOMETRIUM | 48821342 | 48821441 | 48821424 | 48821424 | Missense_Mutation | C | A | p.C371F |
| HEC151_ENDOMETRIUM | 48821390 | 48821441 | 48821424 | 48821424 | Missense_Mutation | C | A | p.C371F |
| SNU601_STOMACH | 48869474 | 48869554 | 48869496 | 48869496 | Missense_Mutation | C | T | p.S155N |
| HCC366_LUNG | 48869474 | 48869554 | 48869527 | 48869527 | Missense_Mutation | T | A | p.T145S |
| TOV21G_OVARY | 48877136 | 48877276 | 48877171 | 48877171 | Missense_Mutation | G | T | p.R124S |
| TOV21G_OVARY | 48877136 | 48877260 | 48877171 | 48877171 | Missense_Mutation | G | T | p.R124S |
| NCIH2228_LUNG | 48877136 | 48877276 | 48877171 | 48877171 | Missense_Mutation | G | A | p.R124C |
| NCIH2228_LUNG | 48877136 | 48877260 | 48877171 | 48877171 | Missense_Mutation | G | A | p.R124C |
| KYSE50_OESOPHAGUS | 48877136 | 48877276 | 48877224 | 48877224 | Missense_Mutation | C | T | p.R106Q |
| KYSE50_OESOPHAGUS | 48877136 | 48877260 | 48877224 | 48877224 | Missense_Mutation | C | T | p.R106Q |
| EFE184_ENDOMETRIUM | 48877136 | 48877276 | 48877227 | 48877227 | Missense_Mutation | G | A | p.T105I |
| EFE184_ENDOMETRIUM | 48877136 | 48877260 | 48877227 | 48877227 | Missense_Mutation | G | A | p.T105I |
| PSN1_PANCREAS | 48878782 | 48878823 | 48878806 | 48878806 | Missense_Mutation | C | T | p.E86K |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48917224 | 48917272 | 48917230 | 48917230 | Missense_Mutation | G | A | p.L78F |
| RH41_SOFT_TISSUE | 48917224 | 48917272 | 48917236 | 48917236 | Missense_Mutation | T | C | p.T76A |
| RH4_SOFT_TISSUE | 48917224 | 48917272 | 48917236 | 48917236 | Missense_Mutation | T | C | p.T76A |
| LC2AD_LUNG | 48918666 | 48918803 | 48918767 | 48918767 | Missense_Mutation | C | G | p.D30H |
| HEC251_ENDOMETRIUM | 48821342 | 48821441 | 48821342 | 48821342 | Splice_Site | A | C | p.Y398* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SPATA6 |
| 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 SPATA6 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SPATA6 |
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RelatedDrugs for SPATA6 |
| 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 SPATA6 |
| 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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