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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 CELF1 |
 Gene summary |
| Gene information | Gene symbol | CELF1 | Gene ID | 10658 |
| Gene name | CUGBP Elav-like family member 1 | |
| Synonyms | BRUNOL2|CUG-BP|CUGBP|CUGBP1|EDEN-BP|NAB50|NAPOR|hNab50 | |
| Cytomap | 11p11.2 | |
| Type of gene | protein-coding | |
| Description | CUGBP Elav-like family member 150 kDa nuclear polyadenylated RNA-binding proteinCUG RNA-binding proteinCUG triplet repeat RNA-binding protein 1CUG-BP- and ETR-3-like factor 1EDEN-BP homologRNA-binding protein BRUNOL-2bruno-like 2bruno-like protein | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context | - 24951455(Alzheimer's Disease Risk Genes and Mechanisms of Disease Pathogenesis) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| CELF1 | GO:0006376 | mRNA splice site selection | 11158314 |
| CELF1 | GO:0043484 | regulation of RNA splicing | 16946708 |
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Gene structures and expression levels for CELF1 |
| 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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ENSG00000149187
| 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. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| STG | UP | ENST00000358597.7 | CELF1-202:protein_coding:CELF1 | 1.141019e+01 | 6.304742e+00 | 1.542529e-03 | 4.781256e-02 |
| CB | UP | ENST00000531165.5 | CELF1-214:protein_coding:CELF1 | 2.425800e+02 | 1.023554e+00 | 1.279474e-05 | 1.296906e-04 |
| TC | DOWN | ENST00000524648.1 | CELF1-207:lncRNA:CELF1 | 1.496455e+01 | -8.183623e-01 | 2.092546e-06 | 7.339169e-05 |
| TC | UP | ENST00000528538.5 | CELF1-212:protein_coding:CELF1 | 8.633916e-01 | 9.532203e-01 | 2.635935e-03 | 2.068862e-02 |
| TC | UP | ENST00000528434.5 | CELF1-211:protein_coding:CELF1 | 5.179857e+00 | 8.000514e-01 | 3.449737e-03 | 2.536384e-02 |
| 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 CELF1 |
| 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_136550 | chr11 | 47470294:47470555:47471998:47472102:47472191:47472356 | 47471998:47472102 |
| exon_skip_186849 | chr11 | 47482695:47482856:47483453:47483532:47484389:47484434 | 47483453:47483532 |
| exon_skip_200067 | chr11 | 47476846:47476956:47477297:47477425:47478877:47478940 | 47477297:47477425 |
| exon_skip_225021 | chr11 | 47482695:47482856:47483453:47483532:47484389:47484523 | 47483453:47483532 |
| exon_skip_228130 | chr11 | 47472331:47472357:47473088:47473231:47475336:47475457 | 47473088:47473231 |
| exon_skip_254127 | chr11 | 47477297:47477425:47478877:47478940:47482695:47482856 | 47478877:47478940 |
| exon_skip_3279 | chr11 | 47470329:47470555:47471998:47472102:47472191:47472356 | 47471998:47472102 |
| exon_skip_34493 | chr11 | 47488972:47489024:47494331:47494443:47499453:47499604 | 47494331:47494443 |
| exon_skip_45696 | chr11 | 47477297:47477425:47478877:47478952:47482695:47482856 | 47478877:47478952 |
| exon_skip_48204 | chr11 | 47488983:47489024:47499453:47499604:47500861:47500932 | 47499453:47499604 |
| exon_skip_74676 | chr11 | 47488983:47489024:47494331:47494443:47499453:47499604 | 47494331:47494443 |
| exon_skip_7973 | chr11 | 47482695:47482856:47483453:47483532:47484389:47484520 | 47483453:47483532 |
| exon_skip_82959 | chr11 | 47476846:47476959:47477297:47477425:47478877:47478940 | 47477297:47477425 |
| exon_skip_99739 | chr11 | 47488983:47489024:47499453:47499604:47500861:47500905 | 47499453:47499604 |
| 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 CELF1 |
| 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 |
| ENST00000358597 | 47483453 | 47483532 | Frame-shift |
| ENST00000358597 | 47477297 | 47477425 | In-frame |
| 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 |
| ENST00000358597 | 47483453 | 47483532 | Frame-shift |
| 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 |
| ENST00000358597 | 47478877 | 47478952 | Frame-shift |
| ENST00000358597 | 47483453 | 47483532 | Frame-shift |
| ENST00000358597 | 47473088 | 47473231 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CELF1 |
p-ENSG00000149187_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 |
| ENST00000358597 | 2125 | 486 | 47477297 | 47477425 | 764 | 891 | 254 | 297 |
| 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 |
| ENST00000358597 | 2125 | 486 | 47473088 | 47473231 | 1190 | 1332 | 396 | 444 |
| 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 |
| Q92879 | 254 | 297 | 297 | 297 | Alternative sequence | ID=VSP_005785;Note=In isoform 3. S->SA;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11686919,ECO:0000303|PubMed:15489334;Dbxref=PMID:11686919,PMID:15489334 |
| Q92879 | 254 | 297 | 1 | 486 | Chain | ID=PRO_0000081538;Note=CUGBP Elav-like family member 1 |
| Q92879 | 254 | 297 | 287 | 308 | Compositional bias | Note=Ser-rich |
| 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 |
| Q92879 | 396 | 444 | 403 | 407 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CPZ |
| Q92879 | 396 | 444 | 428 | 434 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CPZ |
| Q92879 | 396 | 444 | 436 | 438 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CPZ |
| Q92879 | 396 | 444 | 440 | 448 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CPZ |
| Q92879 | 396 | 444 | 1 | 486 | Chain | ID=PRO_0000081538;Note=CUGBP Elav-like family member 1 |
| Q92879 | 396 | 444 | 401 | 479 | Domain | Note=RRM 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 |
| Q92879 | 396 | 444 | 414 | 421 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CPZ |
| Q92879 | 396 | 444 | 422 | 424 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CPZ |
| Q92879 | 396 | 444 | 399 | 401 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RQC |
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3'-UTR located exon skipping events that lost miRNA binding sites in CELF1 |
| 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 |
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SNVs in the skipped exons for CELF1 |
| - 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 CELF1 |
| 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 CELF1 |
| 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 CELF1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for CELF1 |
| 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 CELF1 |
| 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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