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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 ELK4 |
 Gene summary |
| Gene information | Gene symbol | ELK4 | Gene ID | 2005 |
| Gene name | ELK4, ETS transcription factor | |
| Synonyms | SAP1 | |
| Cytomap | 1q32.1 | |
| Type of gene | protein-coding | |
| Description | ETS domain-containing protein Elk-4ELK4, ETS-domain protein (SRF accessory protein 1)SAP-1serum response factor accessory protein 1 | |
| Modification date | 20180523 | |
| UniProtAcc | P28324 | |
| Context | PubMed: ELK4 [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 |
| ELK4 | GO:0070932 | histone H3 deacetylation | 22722849 |
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Exon skipping events across known transcript of Ensembl for ELK4 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 ELK4 |
| 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 ELK4 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_36086 | 1 | 205585605:205585772:205588084:205588201:205589093:205589966 | 205588084:205588201 | ENSG00000158711.9 | ENST00000357992.4 |
| exon_skip_36090 | 1 | 205589741:205589966:205592803:205593019:205600759:205601090 | 205592803:205593019 | ENSG00000158711.9 | ENST00000289703.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ELK4 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_36086 | 1 | 205585605:205585772:205588084:205588201:205589093:205589966 | 205588084:205588201 | ENSG00000158711.9 | ENST00000357992.4 |
| exon_skip_36090 | 1 | 205589741:205589966:205592803:205593019:205600759:205601090 | 205592803:205593019 | ENSG00000158711.9 | ENST00000289703.4 |
| 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 ELK4 |
| 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 |
| ENST00000357992 | 205588084 | 205588201 | 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 |
| ENST00000357992 | 205588084 | 205588201 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ELK4 |
| 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 |
| ENST00000357992 | 10256 | 431 | 205588084 | 205588201 | 1421 | 1537 | 360 | 399 |
| 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 |
| ENST00000357992 | 10256 | 431 | 205588084 | 205588201 | 1421 | 1537 | 360 | 399 |
| 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 |
| P28324 | 360 | 399 | 361 | 431 | Alternative sequence | ID=VSP_001468;Note=In isoform 2. TPIILTPSPLLSSIHFWSTLSPVAPLSPARLQGANTLFQFPSVLNSHGPFTLSGLDGPSTPGPFSPDLQKT->VACSLFMVSPLLSFICPFKQIQNLYTQVCFLLLRFVLERLCVTVM;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| P28324 | 360 | 399 | 1 | 431 | Chain | ID=PRO_0000204099;Note=ETS domain-containing protein Elk-4 |
| 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 |
| P28324 | 360 | 399 | 361 | 431 | Alternative sequence | ID=VSP_001468;Note=In isoform 2. TPIILTPSPLLSSIHFWSTLSPVAPLSPARLQGANTLFQFPSVLNSHGPFTLSGLDGPSTPGPFSPDLQKT->VACSLFMVSPLLSFICPFKQIQNLYTQVCFLLLRFVLERLCVTVM;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| P28324 | 360 | 399 | 1 | 431 | Chain | ID=PRO_0000204099;Note=ETS domain-containing protein Elk-4 |
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SNVs in the skipped exons for ELK4 |
| - 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-SY-A9G5-01 | exon_skip_36090 | 205592804 | 205593019 | 205592904 | 205592904 | Frame_Shift_Del | A | - | p.L36fs |
| LUAD | TCGA-67-6217-01 | exon_skip_36086 | 205588085 | 205588201 | 205588203 | 205588203 | Splice_Site | T | A | p.T361_splice |
| - 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 |
| SNU349_KIDNEY | 205592804 | 205593019 | 205592933 | 205592933 | Missense_Mutation | C | A | p.W26C |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ELK4 |
| 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 ELK4 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ELK4 |
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RelatedDrugs for ELK4 |
| 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 ELK4 |
| 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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