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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 CNN2 |
 Gene summary |
| Gene information | Gene symbol | CNN2 | Gene ID | 1265 |
| Gene name | calponin 2 | |
| Synonyms | - | |
| Cytomap | 19p13.3 | |
| Type of gene | protein-coding | |
| Description | calponin-2calponin H2, smooth muscleneutral calponin | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context | - 30371777(Candidate-based screening via gene modulation in human neurons and astrocytes implicates FERMT2 in Abeta and TAU proteostasis) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| CNN2 | GO:0032970 | regulation of actin filament-based process | 16236705 |
| CNN2 | GO:0071260 | cellular response to mechanical stimulus | 16236705 |
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Gene structures and expression levels for CNN2 |
| 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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ENSG00000064666
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| PG | UP | 3.560066e+01 | 8.105924e-01 | 1.713599e-06 | 3.581410e-05 |
| 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 |
| PG | DOWN | ENST00000512927.2 | KCNN2-207:lncRNA:KCNN2 | 1.230167e+00 | -1.581927e+00 | 4.142414e-09 | 1.269748e-06 |
| PG | UP | ENST00000263097.9 | CNN2-201:protein_coding:CNN2 | 2.382229e+01 | 1.078605e+00 | 1.147879e-03 | 1.612684e-02 |
| PG | UP | ENST00000564572.1 | CNN2-206:retained_intron:CNN2 | 1.801189e+00 | 1.292826e+00 | 4.072826e-03 | 3.956601e-02 |
| CB | DOWN | ENST00000503706.5 | KCNN2-202:protein_coding:KCNN2 | 1.725204e+02 | -8.385092e-01 | 3.574136e-06 | 4.421056e-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 CNN2 |
| 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_131275 | chr19 | 1036416:1036562:1036879:1037000:1037625:1038309 | 1036879:1037000 |
| exon_skip_132510 | chr19 | 1036416:1036562:1036879:1037000:1037625:1037733 | 1036879:1037000 |
| exon_skip_162227 | chr19 | 1032559:1032696:1036067:1036246:1036416:1036472 | 1036067:1036246 |
| exon_skip_186552 | chr19 | 1032676:1032696:1036067:1036246:1036416:1036562 | 1036067:1036246 |
| exon_skip_235658 | chr19 | 1032559:1032696:1036130:1036246:1036416:1036472 | 1036130:1036246 |
| exon_skip_241512 | chr19 | 1032676:1032696:1036130:1036246:1036416:1036562 | 1036130:1036246 |
| exon_skip_32386 | chr19 | 1032559:1032696:1036130:1036246:1036416:1036562 | 1036130:1036246 |
| 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 CNN2 |
| 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 |
| ENST00000263097 | 1036130 | 1036246 | 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 |
| ENST00000263097 | 1036130 | 1036246 | 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 |
| ENST00000263097 | 1036130 | 1036246 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CNN2 |
p-ENSG00000064666_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 |
| ENST00000263097 | 2196 | 309 | 1036130 | 1036246 | 473 | 588 | 130 | 169 |
| 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 |
| ENST00000263097 | 2196 | 309 | 1036130 | 1036246 | 473 | 588 | 130 | 169 |
| 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 |
| ENST00000263097 | 2196 | 309 | 1036130 | 1036246 | 473 | 588 | 130 | 169 |
| 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 |
| Q99439 | 130 | 169 | 131 | 169 | Alternative sequence | ID=VSP_042941;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q99439 | 130 | 169 | 2 | 309 | Chain | ID=PRO_0000204773;Note=Calponin-2 |
| Q99439 | 130 | 169 | 28 | 132 | Domain | Note=Calponin-homology (CH);Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00044 |
| Q99439 | 130 | 169 | 118 | 131 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1WYN |
| Q99439 | 130 | 169 | 132 | 134 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1WYN |
| Q99439 | 130 | 169 | 138 | 138 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q99439 | 130 | 169 | 166 | 191 | Repeat | Note=Calponin-like 1 |
| Q99439 | 130 | 169 | 142 | 142 | Sequence conflict | Note=I->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q99439 | 130 | 169 | 165 | 165 | Sequence conflict | Note=V->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 |
| Q99439 | 130 | 169 | 131 | 169 | Alternative sequence | ID=VSP_042941;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q99439 | 130 | 169 | 2 | 309 | Chain | ID=PRO_0000204773;Note=Calponin-2 |
| Q99439 | 130 | 169 | 28 | 132 | Domain | Note=Calponin-homology (CH);Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00044 |
| Q99439 | 130 | 169 | 118 | 131 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1WYN |
| Q99439 | 130 | 169 | 132 | 134 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1WYN |
| Q99439 | 130 | 169 | 138 | 138 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q99439 | 130 | 169 | 166 | 191 | Repeat | Note=Calponin-like 1 |
| Q99439 | 130 | 169 | 142 | 142 | Sequence conflict | Note=I->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q99439 | 130 | 169 | 165 | 165 | Sequence conflict | Note=V->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 |
| Q99439 | 130 | 169 | 131 | 169 | Alternative sequence | ID=VSP_042941;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q99439 | 130 | 169 | 2 | 309 | Chain | ID=PRO_0000204773;Note=Calponin-2 |
| Q99439 | 130 | 169 | 28 | 132 | Domain | Note=Calponin-homology (CH);Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00044 |
| Q99439 | 130 | 169 | 118 | 131 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1WYN |
| Q99439 | 130 | 169 | 132 | 134 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1WYN |
| Q99439 | 130 | 169 | 138 | 138 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q99439 | 130 | 169 | 166 | 191 | Repeat | Note=Calponin-like 1 |
| Q99439 | 130 | 169 | 142 | 142 | Sequence conflict | Note=I->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q99439 | 130 | 169 | 165 | 165 | Sequence conflict | Note=V->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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3'-UTR located exon skipping events that lost miRNA binding sites in CNN2 |
| 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 CNN2 |
| - 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 CNN2 |
| 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 CNN2 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| TC | exon_skip_241512 | rs11085234 | chr19:1022782 | 9.765216e-05 | 1.604697e-02 |
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Correlation with RNA binding proteins (RBPs) for CNN2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for CNN2 |
| 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 CNN2 |
| 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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