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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 CECR2 |
 Gene summary |
| Gene information | Gene symbol | CECR2 | Gene ID | 27443 |
| Gene name | CECR2 histone acetyl-lysine reader | |
| Synonyms | - | |
| Cytomap | 22q11.1-q11.21 | |
| Type of gene | protein-coding | |
| Description | cat eye syndrome critical region protein 2cat eye syndrome chromosome region, candidate 2 | |
| 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 |
| CECR2 | GO:0043044 | ATP-dependent chromatin remodeling | 15640247 |
| CECR2 | GO:0097194 | execution phase of apoptosis | 12762840 |
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Gene structures and expression levels for CECR2 |
| 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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ENSG00000099954
| 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 CECR2 |
| 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_135822 | chr22 | 17524118:17524271:17537103:17537232:17538520:17538557 | 17537103:17537232 |
| exon_skip_156490 | chr22 | 17538640:17538731:17538993:17539119:17540412:17540716 | 17538993:17539119 |
| exon_skip_199705 | chr22 | 17548999:17549564:17550243:17550409:17552031:17552142 | 17550243:17550409 |
| exon_skip_272194 | chr22 | 17500631:17500735:17503082:17503131:17504847:17505016 | 17503082:17503131 |
| exon_skip_84654 | chr22 | 17504847:17505016:17511813:17511896:17524118:17524271 | 17511813:17511896 |
| 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 CECR2 |
| 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 |
| ENST00000342247 | 17503082 | 17503131 | Frame-shift |
| ENST00000342247 | 17511813 | 17511896 | 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 |
| ENST00000342247 | 17503082 | 17503131 | Frame-shift |
| ENST00000342247 | 17511813 | 17511896 | In-frame |
| 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 |
| ENST00000342247 | 17503082 | 17503131 | Frame-shift |
| ENST00000342247 | 17538993 | 17539119 | Frame-shift |
| ENST00000342247 | 17511813 | 17511896 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CECR2 |
p-ENSG00000099954_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 |
| ENST00000342247 | 6195 | 1484 | 17511813 | 17511896 | 1290 | 1372 | 290 | 318 |
| 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 |
| ENST00000342247 | 6195 | 1484 | 17511813 | 17511896 | 1290 | 1372 | 290 | 318 |
| 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 |
| ENST00000342247 | 6195 | 1484 | 17511813 | 17511896 | 1290 | 1372 | 290 | 318 |
| 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 |
| Q9BXF3 | 290 | 318 | 291 | 318 | Alternative sequence | ID=VSP_000571;Note=In isoform B. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11827465;Dbxref=PMID:11827465 |
| Q9BXF3 | 290 | 318 | 1 | 1484 | Chain | ID=PRO_0000211192;Note=Cat eye syndrome critical region protein 2 |
| Q9BXF3 | 290 | 318 | 293 | 293 | Natural variant | ID=VAR_027411;Note=R->H;Dbxref=dbSNP:rs5747211 |
| 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 |
| Q9BXF3 | 290 | 318 | 291 | 318 | Alternative sequence | ID=VSP_000571;Note=In isoform B. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11827465;Dbxref=PMID:11827465 |
| Q9BXF3 | 290 | 318 | 1 | 1484 | Chain | ID=PRO_0000211192;Note=Cat eye syndrome critical region protein 2 |
| Q9BXF3 | 290 | 318 | 293 | 293 | Natural variant | ID=VAR_027411;Note=R->H;Dbxref=dbSNP:rs5747211 |
| 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 |
| Q9BXF3 | 290 | 318 | 291 | 318 | Alternative sequence | ID=VSP_000571;Note=In isoform B. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11827465;Dbxref=PMID:11827465 |
| Q9BXF3 | 290 | 318 | 1 | 1484 | Chain | ID=PRO_0000211192;Note=Cat eye syndrome critical region protein 2 |
| Q9BXF3 | 290 | 318 | 293 | 293 | Natural variant | ID=VAR_027411;Note=R->H;Dbxref=dbSNP:rs5747211 |
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3'-UTR located exon skipping events that lost miRNA binding sites in CECR2 |
| 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 CECR2 |
| - 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 CECR2 |
| 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 CECR2 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| HCC | exon_skip_84654 | rs5992731 | chr22:17539850 | 5.932811e-05 | 5.857808e-03 |
| HCC | exon_skip_84654 | rs5747211 | chr22:17511820 | 8.377573e-05 | 7.872399e-03 |
| HCC | exon_skip_84654 | rs9605317 | chr22:17531010 | 4.915135e-04 | 3.344873e-02 |
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Correlation with RNA binding proteins (RBPs) for CECR2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for CECR2 |
| 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 CECR2 |
| 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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