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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 RCBTB2 |
 Gene summary |
| Gene information | Gene symbol | RCBTB2 | Gene ID | 1102 |
| Gene name | RCC1 and BTB domain containing protein 2 | |
| Synonyms | CHC1L|RLG | |
| Cytomap | 13q14.2 | |
| Type of gene | protein-coding | |
| Description | RCC1 and BTB domain-containing protein 2RCC1-like G exchanging factor RLGregulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 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 |
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Gene structures and expression levels for RCBTB2 |
| 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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ENSG00000136161
| 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 |
| CB | DOWN | ENST00000544492.5 | RCBTB2-205:protein_coding:RCBTB2 | 1.272964e+02 | -1.483593e+00 | 4.020706e-06 | 4.868071e-05 |
| TC | DOWN | ENST00000544492.5 | RCBTB2-205:protein_coding:RCBTB2 | 1.022201e+02 | -1.383746e+00 | 4.699731e-07 | 2.189706e-05 |
| 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 RCBTB2 |
| 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_108783 | chr13 | 48502724:48502914:48511770:48511877:48512016:48512122 | 48511770:48511877 |
| exon_skip_172424 | chr13 | 48521898:48521962:48522308:48522403:48524659:48524757 | 48522308:48522403 |
| exon_skip_231930 | chr13 | 48515586:48515741:48521898:48521962:48522308:48522403 | 48521898:48521962 |
| exon_skip_245645 | chr13 | 48496191:48496321:48499621:48499760:48501742:48501868 | 48499621:48499760 |
| exon_skip_271716 | chr13 | 48502724:48502914:48510629:48510771:48511770:48511877 | 48510629:48510771 |
| exon_skip_276258 | chr13 | 48501742:48501868:48502724:48502914:48510629:48510771 | 48502724:48502914 |
| exon_skip_283210 | chr13 | 48511770:48511877:48512016:48512174:48512729:48512895 | 48512016:48512174 |
| exon_skip_287251 | chr13 | 48515586:48515741:48522308:48522403:48524659:48524757 | 48522308:48522403 |
| 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 RCBTB2 |
| 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 |
| ENST00000344532 | 48521898 | 48521962 | 3UTR-3CDS |
| ENST00000344532 | 48510629 | 48510771 | Frame-shift |
| 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 |
| ENST00000344532 | 48521898 | 48521962 | 3UTR-3CDS |
| ENST00000344532 | 48510629 | 48510771 | Frame-shift |
| ENST00000344532 | 48512016 | 48512174 | 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 |
| ENST00000344532 | 48521898 | 48521962 | 3UTR-3CDS |
| ENST00000344532 | 48522308 | 48522403 | 3UTR-3UTR |
| ENST00000344532 | 48499621 | 48499760 | Frame-shift |
| ENST00000344532 | 48502724 | 48502914 | Frame-shift |
| ENST00000344532 | 48510629 | 48510771 | Frame-shift |
| ENST00000344532 | 48512016 | 48512174 | In-frame |
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Infer the effects of exon skipping event on protein functional features for RCBTB2 |
p-ENSG00000136161_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 |
| ENST00000344532 | 3249 | 551 | 48512016 | 48512174 | 941 | 1098 | 172 | 224 |
| 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 |
| ENST00000344532 | 3249 | 551 | 48512016 | 48512174 | 941 | 1098 | 172 | 224 |
| 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 |
| O95199 | 172 | 224 | 1 | 551 | Chain | ID=PRO_0000206644;Note=RCC1 and BTB domain-containing protein 2 |
| O95199 | 172 | 224 | 171 | 222 | Repeat | Note=RCC1 3;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O95199 | 172 | 224 | 223 | 274 | Repeat | Note=RCC1 4;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| O95199 | 172 | 224 | 1 | 551 | Chain | ID=PRO_0000206644;Note=RCC1 and BTB domain-containing protein 2 |
| O95199 | 172 | 224 | 171 | 222 | Repeat | Note=RCC1 3;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O95199 | 172 | 224 | 223 | 274 | Repeat | Note=RCC1 4;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in RCBTB2 |
| 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 | ENST00000344532 | 48522308 | 48522403 | hsa-miR-3182 | chr13:48522379-48522386 | 8mer-1a | chr13:48522366-48522388 | 151.00 | -13.01 |
| Mayo | ENST00000344532 | 48522308 | 48522403 | hsa-miR-219b-5p | chr13:48522359-48522366 | 8mer-1a | chr13:48522357-48522378 | 160.00 | -17.80 |
| Mayo | ENST00000344532 | 48522308 | 48522403 | hsa-miR-7114-5p | chr13:48522376-48522383 | 8mer-1a | chr13:48522363-48522383 | 154.00 | -23.11 |
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SNVs in the skipped exons for RCBTB2 |
| - 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 RCBTB2 |
| 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 RCBTB2 |
| 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 RCBTB2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | PCBP4 | exon_skip_245645 | 4.150624e-01 | 3.096211e-07 |
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RelatedDrugs for RCBTB2 |
| 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 RCBTB2 |
| 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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