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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 CELF2 |
 Gene summary |
| Gene information | Gene symbol | CELF2 | Gene ID | 10659 |
| Gene name | CUGBP Elav-like family member 2 | |
| Synonyms | BRUNOL3|CELF-2|CUG-BP2|CUGBP2|ETR-3|ETR3|NAPOR | |
| Cytomap | 10p14 | |
| Type of gene | protein-coding | |
| Description | CUGBP Elav-like family member 2CUG triplet repeat RNA-binding protein 2CUG-BP- and ETR-3-like factor 2ELAV-type RNA-binding protein 3KDM2B/CELF2 fusionRNA-binding protein BRUNOL-3bruno-like protein 3neuroblastoma apoptosis-related RNA-binding prote | |
| 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 |
| CELF2 | GO:0006376 | mRNA splice site selection | 11158314 |
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Gene structures and expression levels for CELF2 |
| 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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ENSG00000048740
| 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 | ENST00000399850.7 | CELF2-202:protein_coding:CELF2 | 3.999204e+01 | 7.741702e+00 | 6.090055e-05 | 8.185133e-03 |
| PG | DOWN | ENST00000668678.1 | CELF2-DT-206:lncRNA:CELF2 | 9.820285e+00 | -9.758694e-01 | 4.365429e-05 | 1.479639e-03 |
| PG | DOWN | ENST00000638035.1 | CELF2-217:protein_coding:CELF2 | 2.050885e+01 | -8.458647e-01 | 4.666171e-05 | 1.556277e-03 |
| CB | DOWN | ENST00000658499.1 | CELF2-AS2-207:lncRNA:CELF2 | 1.850187e+00 | -9.032109e-01 | 1.184359e-02 | 3.990632e-02 |
| TC | UP | ENST00000663606.1 | CELF2-AS2-210:lncRNA:CELF2 | 1.663399e+00 | 8.308017e-01 | 2.259155e-03 | 1.841761e-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 CELF2 |
| 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_118092 | chr10 | 10798624:10798817:10846063:10846156:10919964:10919999 | 10846063:10846156 |
| exon_skip_124960 | chr10 | 11217425:11217507:11249153:11249201:11257738:11257872 | 11249153:11249201 |
| exon_skip_125631 | chr10 | 11321207:11321386:11325836:11325979:11328926:11329097 | 11325836:11325979 |
| exon_skip_184499 | chr10 | 11314139:11314270:11320857:11320898:11321207:11321386 | 11320857:11320898 |
| exon_skip_197989 | chr10 | 11321207:11321386:11325836:11325979:11328926:11329053 | 11325836:11325979 |
| exon_skip_234201 | chr10 | 11165486:11165682:11217425:11217507:11249153:11249201 | 11217425:11217507 |
| exon_skip_241823 | chr10 | 11005377:11005440:11165486:11165682:11217425:11217507 | 11165486:11165682 |
| exon_skip_244981 | chr10 | 11321228:11321386:11325836:11325979:11328926:11329097 | 11325836:11325979 |
| exon_skip_245160 | chr10 | 11165486:11165682:11249153:11249201:11257738:11257872 | 11249153:11249201 |
| exon_skip_256206 | chr10 | 11017966:11018163:11165486:11165682:11217425:11217507 | 11165486:11165682 |
| exon_skip_272710 | chr10 | 11314139:11314270:11321207:11321386:11325836:11325979 | 11321207:11321386 |
| exon_skip_33334 | chr10 | 11257738:11257872:11266598:11266677:11270666:11270824 | 11266598:11266677 |
| exon_skip_91177 | chr10 | 10798711:10798817:10846063:10846156:10919964:10919999 | 10846063:10846156 |
| 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 CELF2 |
| 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 |
| ENST00000416382 | 11165486 | 11165682 | Frame-shift |
| ENST00000631460 | 11165486 | 11165682 | Frame-shift |
| ENST00000416382 | 11217425 | 11217507 | Frame-shift |
| ENST00000631460 | 11217425 | 11217507 | Frame-shift |
| ENST00000416382 | 11249153 | 11249201 | Frame-shift |
| ENST00000631460 | 11249153 | 11249201 | Frame-shift |
| ENST00000416382 | 11266598 | 11266677 | Frame-shift |
| ENST00000631460 | 11266598 | 11266677 | Frame-shift |
| ENST00000416382 | 11325836 | 11325979 | In-frame |
| ENST00000631460 | 11325836 | 11325979 | 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 |
| ENST00000416382 | 11217425 | 11217507 | Frame-shift |
| ENST00000631460 | 11217425 | 11217507 | Frame-shift |
| ENST00000416382 | 11249153 | 11249201 | Frame-shift |
| ENST00000631460 | 11249153 | 11249201 | Frame-shift |
| ENST00000416382 | 11266598 | 11266677 | Frame-shift |
| ENST00000631460 | 11266598 | 11266677 | 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 |
| ENST00000416382 | 11217425 | 11217507 | Frame-shift |
| ENST00000631460 | 11217425 | 11217507 | Frame-shift |
| ENST00000416382 | 11249153 | 11249201 | Frame-shift |
| ENST00000631460 | 11249153 | 11249201 | Frame-shift |
| ENST00000416382 | 11266598 | 11266677 | Frame-shift |
| ENST00000631460 | 11266598 | 11266677 | Frame-shift |
| ENST00000416382 | 11325836 | 11325979 | In-frame |
| ENST00000631460 | 11325836 | 11325979 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CELF2 |
p-ENSG00000048740_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 |
| ENST00000416382 | 6911 | 508 | 11325836 | 11325979 | 1324 | 1466 | 419 | 466 |
| ENST00000631460 | 5555 | 508 | 11325836 | 11325979 | 1321 | 1463 | 419 | 466 |
| 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 |
| ENST00000416382 | 6911 | 508 | 11325836 | 11325979 | 1324 | 1466 | 419 | 466 |
| ENST00000631460 | 5555 | 508 | 11325836 | 11325979 | 1321 | 1463 | 419 | 466 |
| 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 |
| O95319 | 419 | 466 | 424 | 429 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4TLQ |
| O95319 | 419 | 466 | 424 | 429 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4TLQ |
| O95319 | 419 | 466 | 449 | 456 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4TLQ |
| O95319 | 419 | 466 | 449 | 456 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4TLQ |
| O95319 | 419 | 466 | 463 | 473 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4TLQ |
| O95319 | 419 | 466 | 463 | 473 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4TLQ |
| O95319 | 419 | 466 | 1 | 508 | Chain | ID=PRO_0000295189;Note=CUGBP Elav-like family member 2 |
| O95319 | 419 | 466 | 1 | 508 | Chain | ID=PRO_0000295189;Note=CUGBP Elav-like family member 2 |
| O95319 | 419 | 466 | 423 | 501 | Domain | Note=RRM 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 |
| O95319 | 419 | 466 | 423 | 501 | Domain | Note=RRM 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 |
| O95319 | 419 | 466 | 436 | 443 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4TLQ |
| O95319 | 419 | 466 | 436 | 443 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4TLQ |
| O95319 | 419 | 466 | 444 | 446 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4TLQ |
| O95319 | 419 | 466 | 444 | 446 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4TLQ |
| O95319 | 419 | 466 | 438 | 438 | Natural variant | ID=VAR_052202;Note=D->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10893231,ECO:0000269|PubMed:9858671;Dbxref=dbSNP:rs1050942,PMID:10893231,PMID:9858671 |
| O95319 | 419 | 466 | 438 | 438 | Natural variant | ID=VAR_052202;Note=D->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10893231,ECO:0000269|PubMed:9858671;Dbxref=dbSNP:rs1050942,PMID:10893231,PMID:9858671 |
| O95319 | 419 | 466 | 357 | 508 | Region | Note=Necessary for RNA-binding%2C TNNT2 exon 5 and NMDA R1 exon 21 inclusion |
| O95319 | 419 | 466 | 357 | 508 | Region | Note=Necessary for RNA-binding%2C TNNT2 exon 5 and NMDA R1 exon 21 inclusion |
| O95319 | 419 | 466 | 458 | 460 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4TLQ |
| O95319 | 419 | 466 | 458 | 460 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4TLQ |
| 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 |
| O95319 | 419 | 466 | 424 | 429 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4TLQ |
| O95319 | 419 | 466 | 424 | 429 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4TLQ |
| O95319 | 419 | 466 | 449 | 456 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4TLQ |
| O95319 | 419 | 466 | 449 | 456 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4TLQ |
| O95319 | 419 | 466 | 463 | 473 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4TLQ |
| O95319 | 419 | 466 | 463 | 473 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4TLQ |
| O95319 | 419 | 466 | 1 | 508 | Chain | ID=PRO_0000295189;Note=CUGBP Elav-like family member 2 |
| O95319 | 419 | 466 | 1 | 508 | Chain | ID=PRO_0000295189;Note=CUGBP Elav-like family member 2 |
| O95319 | 419 | 466 | 423 | 501 | Domain | Note=RRM 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 |
| O95319 | 419 | 466 | 423 | 501 | Domain | Note=RRM 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 |
| O95319 | 419 | 466 | 436 | 443 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4TLQ |
| O95319 | 419 | 466 | 436 | 443 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4TLQ |
| O95319 | 419 | 466 | 444 | 446 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4TLQ |
| O95319 | 419 | 466 | 444 | 446 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4TLQ |
| O95319 | 419 | 466 | 438 | 438 | Natural variant | ID=VAR_052202;Note=D->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10893231,ECO:0000269|PubMed:9858671;Dbxref=dbSNP:rs1050942,PMID:10893231,PMID:9858671 |
| O95319 | 419 | 466 | 438 | 438 | Natural variant | ID=VAR_052202;Note=D->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10893231,ECO:0000269|PubMed:9858671;Dbxref=dbSNP:rs1050942,PMID:10893231,PMID:9858671 |
| O95319 | 419 | 466 | 357 | 508 | Region | Note=Necessary for RNA-binding%2C TNNT2 exon 5 and NMDA R1 exon 21 inclusion |
| O95319 | 419 | 466 | 357 | 508 | Region | Note=Necessary for RNA-binding%2C TNNT2 exon 5 and NMDA R1 exon 21 inclusion |
| O95319 | 419 | 466 | 458 | 460 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4TLQ |
| O95319 | 419 | 466 | 458 | 460 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4TLQ |
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3'-UTR located exon skipping events that lost miRNA binding sites in CELF2 |
| 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 CELF2 |
| - 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 CELF2 |
| 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 CELF2 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| PCC | exon_skip_184499 | rs10795855 | chr10:11271181 | 1.698732e-04 | 2.617397e-02 |
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Correlation with RNA binding proteins (RBPs) for CELF2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | ZNF638 | exon_skip_234201 | -4.018428e-01 | 3.452847e-07 |
| CB | TRA2A | exon_skip_234201 | -4.197643e-01 | 8.936659e-08 |
| CB | ZNF638 | exon_skip_33334 | -4.911433e-01 | 1.149958e-10 |
| FL | ILF2 | exon_skip_33334 | 5.079197e-01 | 2.207785e-14 |
| HCC | RBM6 | exon_skip_184499 | -4.273754e-01 | 2.678394e-12 |
| IFG | PTBP1 | exon_skip_33334 | -4.057680e-01 | 3.216423e-02 |
| PCC | RBM47 | exon_skip_33334 | -4.470213e-01 | 1.829478e-11 |
| PCC | RALYL | exon_skip_184499 | 4.773842e-01 | 3.119648e-11 |
| PG | RBM47 | exon_skip_33334 | -4.086471e-01 | 8.471051e-09 |
| STG | IGF2BP2 | exon_skip_33334 | -4.008382e-01 | 9.039584e-05 |
| TC | PTBP1 | exon_skip_33334 | -4.585410e-01 | 1.972837e-09 |
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RelatedDrugs for CELF2 |
| 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 CELF2 |
| 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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