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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 EQTN |
 Gene summary |
| Gene information | Gene symbol | EQTN | Gene ID | 54586 |
| Gene name | equatorin | |
| Synonyms | AFAF|C9orf11|SPACA8 | |
| Cytomap | 9p21.2 | |
| Type of gene | protein-coding | |
| Description | equatorinAcrosome formation associated factoracrosome formation-associated factorequatorin, sperm acrosome associatedsperm acrosome associated 8 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9NQ60 | |
| Context | PubMed: EQTN [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 EQTN 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 EQTN |
| 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 EQTN |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_503106 | 9 | 27291016:27291061:27292398:27292485:27294313:27294400 | 27292398:27292485 | ENSG00000120160.6 | ENST00000380032.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for EQTN |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_503106 | 9 | 27291016:27291061:27292398:27292485:27294313:27294400 | 27292398:27292485 | ENSG00000120160.6 | ENST00000380032.3 |
| 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 EQTN |
| 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 |
| ENST00000380032 | 27292398 | 27292485 | 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 |
| ENST00000380032 | 27292398 | 27292485 | In-frame |
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Infer the effects of exon skipping event on protein functional features for EQTN |
| 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 |
| ENST00000380032 | 1048 | 294 | 27292398 | 27292485 | 374 | 460 | 96 | 125 |
| 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 |
| ENST00000380032 | 1048 | 294 | 27292398 | 27292485 | 374 | 460 | 96 | 125 |
| 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 |
| Q9NQ60 | 96 | 125 | 97 | 126 | Alternative sequence | ID=VSP_042157;Note=In isoform 3. DKTVNATTYEKSTIEEETTTSEPSHKNIQR->G;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9NQ60 | 96 | 125 | 15 | 294 | Chain | ID=PRO_0000286593;Note=Equatorin |
| Q9NQ60 | 96 | 125 | 101 | 101 | Natural variant | ID=VAR_032136;Note=N->D;Dbxref=dbSNP:rs12337286 |
| Q9NQ60 | 96 | 125 | 110 | 110 | Natural variant | ID=VAR_056727;Note=I->T;Dbxref=dbSNP:rs12341576 |
| Q9NQ60 | 96 | 125 | 15 | 181 | Topological domain | Note=Vesicular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q9NQ60 | 96 | 125 | 97 | 126 | Alternative sequence | ID=VSP_042157;Note=In isoform 3. DKTVNATTYEKSTIEEETTTSEPSHKNIQR->G;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9NQ60 | 96 | 125 | 15 | 294 | Chain | ID=PRO_0000286593;Note=Equatorin |
| Q9NQ60 | 96 | 125 | 101 | 101 | Natural variant | ID=VAR_032136;Note=N->D;Dbxref=dbSNP:rs12337286 |
| Q9NQ60 | 96 | 125 | 110 | 110 | Natural variant | ID=VAR_056727;Note=I->T;Dbxref=dbSNP:rs12341576 |
| Q9NQ60 | 96 | 125 | 15 | 181 | Topological domain | Note=Vesicular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for EQTN |
| - 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 |
| BLCA | TCGA-E7-A7DU-01 | exon_skip_503106 | 27292399 | 27292485 | 27292453 | 27292454 | Frame_Shift_Ins | - | TT | p.S108fs |
| - 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 |
| SNU81_LARGE_INTESTINE | 27292399 | 27292485 | 27292423 | 27292423 | Missense_Mutation | C | T | p.E118K |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EQTN |
| 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 EQTN |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EQTN |
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RelatedDrugs for EQTN |
| 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 EQTN |
| 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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