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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 ELK1 |
 Gene summary |
| Gene information | Gene symbol | ELK1 | Gene ID | 2002 |
| Gene name | ETS transcription factor ELK1 | |
| Synonyms | - | |
| Cytomap | Xp11.23 | |
| Type of gene | protein-coding | |
| Description | ETS domain-containing protein Elk-1ELK1, ETS transcription factorELK1, member of ETS oncogene familyETS-like gene 1tyrosine kinase (ELK1) oncogene | |
| Modification date | 20200313 | |
| 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 |
| ELK1 | GO:0045893 | positive regulation of transcription, DNA-templated | 15790681|17296730 |
| ELK1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 12750007|14970218 |
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Gene structures and expression levels for ELK1 |
| 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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ENSG00000126767
| 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. |
| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| 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 ELK1 |
| 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_191429 | chrX | 47641232:47641475:47649921:47650026:47650423:47650488 | 47649921:47650026 |
| exon_skip_192074 | chrX | 47637013:47637114:47637751:47638182:47638895:47639338 | 47637751:47638182 |
| exon_skip_208899 | chrX | 47641461:47641475:47649921:47650026:47650423:47650488 | 47649921:47650026 |
| exon_skip_89330 | chrX | 47641440:47641475:47649921:47650026:47650423:47650488 | 47649921:47650026 |
| 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 ELK1 |
| 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 |
| ENST00000376983 | 47649921 | 47650026 | 3UTR-3UTR |
| 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 |
| ENST00000376983 | 47649921 | 47650026 | 3UTR-3UTR |
| 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 |
| ENST00000376983 | 47649921 | 47650026 | 3UTR-3UTR |
| ENST00000247161 | 47637751 | 47638182 | In-frame |
| ENST00000376983 | 47637751 | 47638182 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ELK1 |
p-ENSG00000126767_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 |
| 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 |
| 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 |
| ENST00000247161 | 2712 | 428 | 47637751 | 47638182 | 755 | 1185 | 218 | 361 |
| ENST00000376983 | 2275 | 428 | 47637751 | 47638182 | 964 | 1394 | 218 | 361 |
| 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 |
| 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 |
| 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 |
| P19419 | 218 | 361 | 96 | 428 | Alternative sequence | ID=VSP_001467;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P19419 | 218 | 361 | 96 | 428 | Alternative sequence | ID=VSP_001467;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P19419 | 218 | 361 | 1 | 428 | Chain | ID=PRO_0000204095;Note=ETS domain-containing protein Elk-1 |
| P19419 | 218 | 361 | 1 | 428 | Chain | ID=PRO_0000204095;Note=ETS domain-containing protein Elk-1 |
| P19419 | 218 | 361 | 230 | 230 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15210726;Dbxref=PMID:15210726 |
| P19419 | 218 | 361 | 230 | 230 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15210726;Dbxref=PMID:15210726 |
| P19419 | 218 | 361 | 249 | 249 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO);Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12887893,ECO:0000269|PubMed:15210726;Dbxref=PMID:12887893,PMID:15210726 |
| P19419 | 218 | 361 | 249 | 249 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO);Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12887893,ECO:0000269|PubMed:15210726;Dbxref=PMID:12887893,PMID:15210726 |
| P19419 | 218 | 361 | 254 | 254 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15210726;Dbxref=PMID:15210726 |
| P19419 | 218 | 361 | 254 | 254 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15210726;Dbxref=PMID:15210726 |
| P19419 | 218 | 361 | 324 | 324 | Modified residue | Note=Phosphoserine%3B by MAPK1;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:23186163,ECO:0000269|PubMed:7889942;Dbxref=PMID:19690332,PMID:23186163,PMID:7889942 |
| P19419 | 218 | 361 | 324 | 324 | Modified residue | Note=Phosphoserine%3B by MAPK1;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:23186163,ECO:0000269|PubMed:7889942;Dbxref=PMID:19690332,PMID:23186163,PMID:7889942 |
| P19419 | 218 | 361 | 336 | 336 | Modified residue | Note=Phosphothreonine%3B by MAPK1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7889942;Dbxref=PMID:7889942 |
| P19419 | 218 | 361 | 336 | 336 | Modified residue | Note=Phosphothreonine%3B by MAPK1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7889942;Dbxref=PMID:7889942 |
| P19419 | 218 | 361 | 353 | 353 | Modified residue | Note=Phosphothreonine%3B by MAPK1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10637505;Dbxref=PMID:10637505 |
| P19419 | 218 | 361 | 353 | 353 | Modified residue | Note=Phosphothreonine%3B by MAPK1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10637505;Dbxref=PMID:10637505 |
| P19419 | 218 | 361 | 230 | 230 | Mutagenesis | Note=9-fold increase in transcriptional activator activity%3B when associated with R-249. Reduction in sumoylation. K->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12887893,ECO:0000269|PubMed:15210726;Dbxref=PMID:12887893,PMID:15210 |
| P19419 | 218 | 361 | 230 | 230 | Mutagenesis | Note=9-fold increase in transcriptional activator activity%3B when associated with R-249. Reduction in sumoylation. K->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12887893,ECO:0000269|PubMed:15210726;Dbxref=PMID:12887893,PMID:15210 |
| P19419 | 218 | 361 | 249 | 249 | Mutagenesis | Note=9-fold increase in transcriptional activator activity%3B when associated with R-230. Reduction in sumoylation. K->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12887893,ECO:0000269|PubMed:15210726;Dbxref=PMID:12887893,PMID:15210 |
| P19419 | 218 | 361 | 249 | 249 | Mutagenesis | Note=9-fold increase in transcriptional activator activity%3B when associated with R-230. Reduction in sumoylation. K->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12887893,ECO:0000269|PubMed:15210726;Dbxref=PMID:12887893,PMID:15210 |
| P19419 | 218 | 361 | 254 | 254 | Mutagenesis | Note=Reduction in sumoylation. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15210726;Dbxref=PMID:15210726 |
| P19419 | 218 | 361 | 254 | 254 | Mutagenesis | Note=Reduction in sumoylation. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15210726;Dbxref=PMID:15210726 |
| P19419 | 218 | 361 | 324 | 324 | Mutagenesis | Note=No effect on ternary complex formation but loss of transcriptional activity positive regulation by MAD2L2. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7889942;Dbxref=PMID:7889942 |
| P19419 | 218 | 361 | 324 | 324 | Mutagenesis | Note=No effect on ternary complex formation but loss of transcriptional activity positive regulation by MAD2L2. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7889942;Dbxref=PMID:7889942 |
| P19419 | 218 | 361 | 336 | 336 | Mutagenesis | Note=No effect on ternary complex formation. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7889942;Dbxref=PMID:7889942 |
| P19419 | 218 | 361 | 336 | 336 | Mutagenesis | Note=No effect on ternary complex formation. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7889942;Dbxref=PMID:7889942 |
| P19419 | 218 | 361 | 353 | 353 | Mutagenesis | Note=No effect on ternary complex formation. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7889942;Dbxref=PMID:7889942 |
| P19419 | 218 | 361 | 353 | 353 | Mutagenesis | Note=No effect on ternary complex formation. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7889942;Dbxref=PMID:7889942 |
| P19419 | 218 | 361 | 349 | 399 | Region | Note=Sufficient for interaction with MAD2L2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17296730;Dbxref=PMID:17296730 |
| P19419 | 218 | 361 | 349 | 399 | Region | Note=Sufficient for interaction with MAD2L2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17296730;Dbxref=PMID:17296730 |
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3'-UTR located exon skipping events that lost miRNA binding sites in ELK1 |
| 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 |
| Mayo | ENST00000376983 | 47649921 | 47650026 | hsa-miR-132-5p | chrX:47649998-47650005 | 8mer-1a | chrX:47649985-47650005 | 161.00 | -19.65 |
| Mayo | ENST00000376983 | 47649921 | 47650026 | hsa-miR-486-5p | chrX:47649973-47649980 | 8mer-1a | chrX:47649963-47649984 | 156.00 | -15.28 |
| Mayo | ENST00000376983 | 47649921 | 47650026 | hsa-miR-4768-3p | chrX:47650010-47650017 | 8mer-1a | chrX:47649998-47650017 | 151.00 | -19.56 |
| MSBB | ENST00000376983 | 47649921 | 47650026 | hsa-miR-132-5p | chrX:47649998-47650005 | 8mer-1a | chrX:47649985-47650005 | 161.00 | -19.65 |
| MSBB | ENST00000376983 | 47649921 | 47650026 | hsa-miR-486-5p | chrX:47649973-47649980 | 8mer-1a | chrX:47649963-47649984 | 156.00 | -15.28 |
| MSBB | ENST00000376983 | 47649921 | 47650026 | hsa-miR-4768-3p | chrX:47650010-47650017 | 8mer-1a | chrX:47649998-47650017 | 151.00 | -19.56 |
| ROSMAP | ENST00000376983 | 47649921 | 47650026 | hsa-miR-132-5p | chrX:47649998-47650005 | 8mer-1a | chrX:47649985-47650005 | 161.00 | -19.65 |
| ROSMAP | ENST00000376983 | 47649921 | 47650026 | hsa-miR-486-5p | chrX:47649973-47649980 | 8mer-1a | chrX:47649963-47649984 | 156.00 | -15.28 |
| ROSMAP | ENST00000376983 | 47649921 | 47650026 | hsa-miR-4768-3p | chrX:47650010-47650017 | 8mer-1a | chrX:47649998-47650017 | 151.00 | -19.56 |
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SNVs in the skipped exons for ELK1 |
| - 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 ELK1 |
| 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 ELK1 |
| 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 ELK1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | RBM6 | exon_skip_191429 | -4.544971e-01 | 1.767535e-09 |
| CB | NUP42 | exon_skip_191429 | 4.105378e-01 | 7.671294e-08 |
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RelatedDrugs for ELK1 |
| 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 ELK1 |
| 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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