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Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for CAPN2 |
Gene summary |
Gene information | Gene symbol | CAPN2 | Gene ID | 824 |
Gene name | calpain 2 | |
Synonyms | CANP2|CANPL2|CANPml|mCANP | |
Cytomap | 1q41 | |
Type of gene | protein-coding | |
Description | calpain-2 catalytic subunitCANP 2M-calpaincalcium-activated neutral proteinase 2calpain 2, (m/II) large subunitcalpain 2, large [catalytic] subunitcalpain 2, large subunitcalpain M-typecalpain, large polypeptide L2millimolar-calpain | |
Modification date | 20200313 | |
UniProtAcc | C9JWY7, P17655, | |
Context | - 32144989(Tauopathy-Associated Tau Fragment Ending at Amino Acid 224 Is Generated by Calpain-2 Cleavage) |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
CAPN2 | GO:0051603 | proteolysis involved in cellular protein catabolic process | 12150984 |
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Gene structures and expression levels for CAPN2 |
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. |
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 |
PG | UP | ENST00000433674.6 | CAPN2-202:protein_coding:CAPN2 | 1.928268e+01 | 6.158308e+00 | 4.995512e-05 | 1.636624e-03 |
CB | DOWN | ENST00000487223.5 | CAPN2-209:lncRNA:CAPN2 | 3.522240e+02 | -9.634862e-01 | 3.442544e-03 | 1.445522e-02 |
TC | DOWN | ENST00000487223.5 | CAPN2-209:lncRNA:CAPN2 | 9.167449e+01 | -1.701035e+00 | 1.201573e-03 | 1.138564e-02 |
TC | UP | ENST00000472601.5 | CAPN2-205:lncRNA:CAPN2 | 4.761007e+00 | 1.031111e+00 | 1.923786e-03 | 1.630388e-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 CAPN2 |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_17856 | chr1 | 223712539:223712877:223717762:223717831:223744100:223744218 | 223717762:223717831 |
exon_skip_24110 | chr1 | 223745306:223745439:223746997:223747165:223749039:223749122 | 223746997:223747165 |
exon_skip_48335 | chr1 | 223769841:223769909:223770447:223770525:223771809:223771925 | 223770447:223770525 |
exon_skip_57780 | chr1 | 223762186:223762251:223764150:223764207:223766367:223766431 | 223764150:223764207 |
exon_skip_7994 | chr1 | 223744100:223744218:223745306:223745439:223746997:223747063 | 223745306:223745439 |
exon_skip_8460 | chr1 | 223752796:223752956:223755480:223755649:223757369:223757380 | 223755480:223755649 |
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 CAPN2 |
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 |
ENST00000295006 | 223717762 | 223717831 | Frame-shift |
ENST00000295006 | 223745306 | 223745439 | Frame-shift |
ENST00000295006 | 223755480 | 223755649 | Frame-shift |
ENST00000295006 | 223764150 | 223764207 | 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 |
ENST00000295006 | 223745306 | 223745439 | 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 |
ENST00000295006 | 223717762 | 223717831 | Frame-shift |
ENST00000295006 | 223745306 | 223745439 | Frame-shift |
ENST00000295006 | 223746997 | 223747165 | Frame-shift |
ENST00000295006 | 223755480 | 223755649 | Frame-shift |
ENST00000295006 | 223764150 | 223764207 | Frame-shift |
ENST00000295006 | 223770447 | 223770525 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for CAPN2 |
p-ENSG00000162909_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 |
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 |
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 |
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 |
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3'-UTR located exon skipping events that lost miRNA binding sites in CAPN2 |
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 CAPN2 |
- 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 CAPN2 |
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 CAPN2 |
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 CAPN2 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for CAPN2 |
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 CAPN2 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |