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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 SPAG8 |
Gene summary |
| Gene information | Gene symbol | SPAG8 | Gene ID | 26206 |
| Gene name | sperm associated antigen 8 | |
| Synonyms | BS-84|CILD28|CT142|HSD-1|SMP1|SPAG3|hSMP-1 | |
| Cytomap | 9p13.3 | |
| Type of gene | protein-coding | |
| Description | sperm-associated antigen 8sperm membrane protein 1sperm membrane protein BS-84testicular tissue protein Li 177 | |
| Modification date | 20180523 | |
| UniProtAcc | Q99932 | |
| Context | PubMed: SPAG8 [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 SPAG8 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 SPAG8 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for SPAG8 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_503875 | 9 | 35808127:35808303:35809400:35809509:35810243:35810288 | 35809400:35809509 | ENSG00000137098.9 | ENST00000340291.2 |
| exon_skip_503877 | 9 | 35808127:35808303:35809400:35810306:35810435:35810537 | 35809400:35810306 | ENSG00000137098.9 | ENST00000475644.1 |
| exon_skip_503881 | 9 | 35808127:35808303:35810243:35810306:35810435:35810537 | 35810243:35810306 | ENSG00000137098.9 | ENST00000460836.1 |
| exon_skip_503884 | 9 | 35808127:35808303:35810435:35810550:35810633:35810679 | 35810435:35810550 | ENSG00000137098.9 | ENST00000463889.1 |
| exon_skip_503886 | 9 | 35809400:35809509:35810243:35810306:35810435:35810550 | 35810243:35810306 | ENSG00000137098.9 | ENST00000340291.2 |
| exon_skip_503887 | 9 | 35810000:35810129:35810243:35810288:35810435:35810537 | 35810243:35810288 | ENSG00000137098.9 | ENST00000484764.1 |
| exon_skip_503888 | 9 | 35810000:35810129:35810243:35810306:35810435:35810537 | 35810243:35810306 | ENSG00000137098.9 | ENST00000479751.1,ENST00000396638.2,ENST00000495667.1,ENST00000497810.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SPAG8 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_503875 | 9 | 35808127:35808303:35809400:35809509:35810243:35810288 | 35809400:35809509 | ENSG00000137098.9 | ENST00000340291.2 |
| exon_skip_503877 | 9 | 35808127:35808303:35809400:35810306:35810435:35810537 | 35809400:35810306 | ENSG00000137098.9 | ENST00000475644.1 |
| exon_skip_503881 | 9 | 35808127:35808303:35810243:35810306:35810435:35810537 | 35810243:35810306 | ENSG00000137098.9 | ENST00000460836.1 |
| exon_skip_503884 | 9 | 35808127:35808303:35810435:35810550:35810633:35810679 | 35810435:35810550 | ENSG00000137098.9 | ENST00000463889.1 |
| exon_skip_503886 | 9 | 35809400:35809509:35810243:35810306:35810435:35810550 | 35810243:35810306 | ENSG00000137098.9 | ENST00000340291.2 |
| exon_skip_503887 | 9 | 35810000:35810129:35810243:35810288:35810435:35810537 | 35810243:35810288 | ENSG00000137098.9 | ENST00000484764.1 |
| exon_skip_503888 | 9 | 35810000:35810129:35810243:35810306:35810435:35810537 | 35810243:35810306 | ENSG00000137098.9 | ENST00000396638.2,ENST00000497810.1,ENST00000479751.1,ENST00000495667.1 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for SPAG8 |
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 SPAG8 |
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 SPAG8 |
- Lollipop plot for presenting exon skipping associated SNVs.* Click on the image to enlarge it in a new window. |
- 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 |
| UCEC | TCGA-D1-A101-01 | exon_skip_503875 | 35809401 | 35809509 | 35809444 | 35809444 | Frame_Shift_Del | C | - | p.G443fs |
| UCEC | TCGA-D1-A101-01 | exon_skip_503877 | 35809401 | 35810306 | 35809444 | 35809444 | Frame_Shift_Del | C | - | p.G443fs |
| HNSC | TCGA-CR-7402-01 | exon_skip_503875 | 35809401 | 35809509 | 35809452 | 35809452 | Nonsense_Mutation | C | A | p.E441* |
| HNSC | TCGA-CR-7402-01 | exon_skip_503877 | 35809401 | 35810306 | 35809452 | 35809452 | Nonsense_Mutation | C | A | p.E441* |
| UCEC | TCGA-BS-A0UF-01 | exon_skip_503884 | 35810436 | 35810550 | 35810551 | 35810551 | Splice_Site | C | A | e5-1 |
- 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 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SPAG8 |
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 SPAG8 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SPAG8 |
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RelatedDrugs for SPAG8 |
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 SPAG8 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |