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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 CTNND2 |
 Gene summary |
| Gene information | Gene symbol | CTNND2 | Gene ID | 1501 |
| Gene name | catenin delta 2 | |
| Synonyms | GT24|NPRAP | |
| Cytomap | 5p15.2 | |
| Type of gene | protein-coding | |
| Description | catenin delta-2T-cell delta-catenincatenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)neurojungin | |
| Modification date | 20200320 | |
| UniProtAcc | B4DRK2, | |
| 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 CTNND2 |
| 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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ENSG00000169862
| 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 | UP | ENST00000508761.1 | CTNND2-211:protein_coding:CTNND2 | 3.405212e+01 | 8.570861e-01 | 6.223716e-06 | 7.055498e-05 |
| CB | UP | ENST00000507430.1 | CTNND2-210:retained_intron:CTNND2 | 1.237954e+01 | 1.436885e+00 | 3.055144e-04 | 1.901392e-03 |
| TC | UP | ENST00000514132.1 | CTNND2-217:lncRNA:CTNND2 | 7.903899e+00 | 9.703962e-01 | 1.407779e-05 | 3.389612e-04 |
| TC | UP | ENST00000507430.1 | CTNND2-210:retained_intron:CTNND2 | 3.100323e+01 | 9.339238e-01 | 6.239881e-03 | 3.949264e-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 CTNND2 |
| 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_123895 | chr5 | 11082756:11082846:11098575:11098748:11110858:11111043 | 11098575:11098748 |
| exon_skip_128587 | chr5 | 11565021:11565056:11732136:11732272:11903054:11903192 | 11732136:11732272 |
| exon_skip_13156 | chr5 | 11565021:11565056:11732136:11732272:11903817:11903979 | 11732136:11732272 |
| exon_skip_15144 | chr5 | 11082756:11082846:11098575:11098748:11110858:11111014 | 11098575:11098748 |
| exon_skip_164082 | chr5 | 11364696:11364890:11384665:11385229:11397031:11397203 | 11384665:11385229 |
| exon_skip_167004 | chr5 | 11236691:11236823:11346372:11346627:11364696:11364890 | 11346372:11346627 |
| exon_skip_173536 | chr5 | 11364857:11364890:11397031:11397203:11411536:11411554 | 11397031:11397203 |
| exon_skip_184918 | chr5 | 11564944:11565056:11732136:11732272:11903817:11903829 | 11732136:11732272 |
| exon_skip_193211 | chr5 | 11364857:11364890:11397031:11397203:11411536:11411652 | 11397031:11397203 |
| exon_skip_212277 | chr5 | 11385025:11385229:11397031:11397203:11411536:11411652 | 11397031:11397203 |
| exon_skip_224806 | chr5 | 11082756:11082846:11083881:11083955:11098575:11098748 | 11083881:11083955 |
| exon_skip_235366 | chr5 | 11364857:11364890:11384665:11385229:11397031:11397203 | 11384665:11385229 |
| exon_skip_251438 | chr5 | 11364696:11364890:11397031:11397203:11411536:11411652 | 11397031:11397203 |
| exon_skip_266393 | chr5 | 10981773:10981846:10988111:10988242:10992551:10992677 | 10988111:10988242 |
| exon_skip_266435 | chr5 | 11385213:11385229:11397031:11397203:11411536:11411652 | 11397031:11397203 |
| exon_skip_269465 | chr5 | 10981773:10981846:10986638:10986741:10988111:10988242 | 10986638:10986741 |
| exon_skip_286651 | chr5 | 10973587:10973713:10981773:10981846:10988111:10988242 | 10981773:10981846 |
| exon_skip_288123 | chr5 | 11159576:11159759:11199448:11199661:11236691:11236823 | 11199448:11199661 |
| exon_skip_5895 | chr5 | 11083881:11083955:11098575:11098748:11110858:11111043 | 11098575:11098748 |
| exon_skip_74951 | chr5 | 11385025:11385229:11397031:11397203:11411536:11411640 | 11397031:11397203 |
| exon_skip_80242 | chr5 | 11564944:11565056:11732136:11732272:11903817:11903979 | 11732136:11732272 |
| exon_skip_80589 | chr5 | 11412035:11412069:11564944:11565056:11732136:11732272 | 11564944:11565056 |
| exon_skip_9250 | chr5 | 11082756:11082846:11083881:11083955:11098575:11098693 | 11083881:11083955 |
| 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 CTNND2 |
| 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 |
| ENST00000304623 | 10981773 | 10981846 | Frame-shift |
| ENST00000304623 | 11199448 | 11199661 | Frame-shift |
| ENST00000304623 | 11346372 | 11346627 | Frame-shift |
| ENST00000304623 | 11384665 | 11385229 | Frame-shift |
| ENST00000304623 | 11397031 | 11397203 | Frame-shift |
| ENST00000304623 | 11564944 | 11565056 | Frame-shift |
| ENST00000304623 | 10988111 | 10988242 | In-frame |
| ENST00000304623 | 11098575 | 11098748 | 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 |
| ENST00000304623 | 11346372 | 11346627 | Frame-shift |
| ENST00000304623 | 11384665 | 11385229 | Frame-shift |
| ENST00000304623 | 11564944 | 11565056 | Frame-shift |
| ENST00000304623 | 10988111 | 10988242 | In-frame |
| ENST00000304623 | 11098575 | 11098748 | 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 |
| ENST00000304623 | 10981773 | 10981846 | Frame-shift |
| ENST00000304623 | 11346372 | 11346627 | Frame-shift |
| ENST00000304623 | 11384665 | 11385229 | Frame-shift |
| ENST00000304623 | 11397031 | 11397203 | Frame-shift |
| ENST00000304623 | 11564944 | 11565056 | Frame-shift |
| ENST00000304623 | 10988111 | 10988242 | In-frame |
| ENST00000304623 | 11098575 | 11098748 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CTNND2 |
p-ENSG00000169862_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 |
| ENST00000304623 | 5498 | 1225 | 11098575 | 11098748 | 2654 | 2826 | 821 | 878 |
| ENST00000304623 | 5498 | 1225 | 10988111 | 10988242 | 3402 | 3532 | 1070 | 1114 |
| 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 |
| ENST00000304623 | 5498 | 1225 | 11098575 | 11098748 | 2654 | 2826 | 821 | 878 |
| ENST00000304623 | 5498 | 1225 | 10988111 | 10988242 | 3402 | 3532 | 1070 | 1114 |
| 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 |
| ENST00000304623 | 5498 | 1225 | 11098575 | 11098748 | 2654 | 2826 | 821 | 878 |
| ENST00000304623 | 5498 | 1225 | 10988111 | 10988242 | 3402 | 3532 | 1070 | 1114 |
| 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 |
| Q9UQB3 | 821 | 878 | 823 | 880 | Alternative sequence | ID=VSP_006746;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9UQB3 | 821 | 878 | 1 | 1225 | Chain | ID=PRO_0000064299;Note=Catenin delta-2 |
| Q9UQB3 | 821 | 878 | 862 | 862 | Natural variant | ID=VAR_073395;Note=Found in patients with autism%3B unknown pathological significance%3B has no effect on Wnt signaling. T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25807484;Dbxref=dbSNP:rs773517967,PMID:25807484 |
| Q9UQB3 | 821 | 878 | 835 | 875 | Repeat | Note=ARM 7 |
| Q9UQB3 | 1070 | 1114 | 1 | 1225 | Chain | ID=PRO_0000064299;Note=Catenin delta-2 |
| Q9UQB3 | 1070 | 1114 | 1076 | 1076 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O35927 |
| Q9UQB3 | 1070 | 1114 | 1102 | 1102 | Sequence conflict | Note=A->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9UQB3 | 1070 | 1114 | 1102 | 1102 | Sequence conflict | Note=A->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| Q9UQB3 | 821 | 878 | 823 | 880 | Alternative sequence | ID=VSP_006746;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9UQB3 | 821 | 878 | 1 | 1225 | Chain | ID=PRO_0000064299;Note=Catenin delta-2 |
| Q9UQB3 | 821 | 878 | 862 | 862 | Natural variant | ID=VAR_073395;Note=Found in patients with autism%3B unknown pathological significance%3B has no effect on Wnt signaling. T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25807484;Dbxref=dbSNP:rs773517967,PMID:25807484 |
| Q9UQB3 | 821 | 878 | 835 | 875 | Repeat | Note=ARM 7 |
| Q9UQB3 | 1070 | 1114 | 1 | 1225 | Chain | ID=PRO_0000064299;Note=Catenin delta-2 |
| Q9UQB3 | 1070 | 1114 | 1076 | 1076 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O35927 |
| Q9UQB3 | 1070 | 1114 | 1102 | 1102 | Sequence conflict | Note=A->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9UQB3 | 1070 | 1114 | 1102 | 1102 | Sequence conflict | Note=A->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| Q9UQB3 | 821 | 878 | 823 | 880 | Alternative sequence | ID=VSP_006746;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9UQB3 | 821 | 878 | 1 | 1225 | Chain | ID=PRO_0000064299;Note=Catenin delta-2 |
| Q9UQB3 | 821 | 878 | 862 | 862 | Natural variant | ID=VAR_073395;Note=Found in patients with autism%3B unknown pathological significance%3B has no effect on Wnt signaling. T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25807484;Dbxref=dbSNP:rs773517967,PMID:25807484 |
| Q9UQB3 | 821 | 878 | 835 | 875 | Repeat | Note=ARM 7 |
| Q9UQB3 | 1070 | 1114 | 1 | 1225 | Chain | ID=PRO_0000064299;Note=Catenin delta-2 |
| Q9UQB3 | 1070 | 1114 | 1076 | 1076 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O35927 |
| Q9UQB3 | 1070 | 1114 | 1102 | 1102 | Sequence conflict | Note=A->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9UQB3 | 1070 | 1114 | 1102 | 1102 | Sequence conflict | Note=A->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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3'-UTR located exon skipping events that lost miRNA binding sites in CTNND2 |
| 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 CTNND2 |
| - 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 CTNND2 |
| 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 |
| ADstage | MSBB | IFG | exon_skip_167004 | -5.437957e-01 | 2.780215e-03 | chr5 | - | 11236691 | 11236823 | 11346372 | 11346627 | 11364696 | 11364890 |
| ADstage | MSBB | IFG | exon_skip_80589 | -5.104781e-01 | 5.510727e-03 | chr5 | - | 11412035 | 11412069 | 11564944 | 11565056 | 11732136 | 11732272 |
| CDR | MSBB | IFG | exon_skip_167004 | -6.464145e-01 | 2.021430e-04 | chr5 | - | 11236691 | 11236823 | 11346372 | 11346627 | 11364696 | 11364890 |
| CDR | MSBB | IFG | exon_skip_123895 | 4.372670e-01 | 1.997380e-02 | chr5 | - | 11082756 | 11082846 | 11098575 | 11098748 | 11110858 | 11111043 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CTNND2 |
| 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 CTNND2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | RBM4 | exon_skip_9250 | -4.934571e-01 | 3.876548e-11 |
| IFG | EWSR1 | exon_skip_224806 | 4.326720e-01 | 2.146852e-02 |
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RelatedDrugs for CTNND2 |
| 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 CTNND2 |
| 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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