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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 CAMTA2 |
 Gene summary |
| Gene information | Gene symbol | CAMTA2 | Gene ID | 23125 |
| Gene name | calmodulin binding transcription activator 2 | |
| Synonyms | - | |
| Cytomap | 17p13.2 | |
| Type of gene | protein-coding | |
| Description | calmodulin-binding transcription activator 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 |
| CAMTA2 | GO:0006357 | regulation of transcription by RNA polymerase II | 16678093 |
| CAMTA2 | GO:0014898 | cardiac muscle hypertrophy in response to stress | 16678093 |
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Gene structures and expression levels for CAMTA2 |
| 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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ENSG00000108509
| 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 | ENST00000574442.1 | CAMTA2-210:retained_intron:CAMTA2 | 9.400007e+01 | -1.822791e+00 | 1.656285e-12 | 2.239859e-10 |
| CB | DOWN | ENST00000572192.1 | CAMTA2-206:retained_intron:CAMTA2 | 2.995167e+02 | -1.641237e+00 | 4.147158e-10 | 2.118498e-08 |
| 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 CAMTA2 |
| 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_109644 | chr17 | 4981225:4981359:4981678:4981831:4982757:4982892 | 4981678:4981831 |
| exon_skip_113591 | chr17 | 4981719:4981831:4982089:4982175:4982757:4982892 | 4982089:4982175 |
| exon_skip_115991 | chr17 | 4981719:4981831:4982089:4982160:4982757:4982852 | 4982089:4982160 |
| exon_skip_167210 | chr17 | 4981719:4981831:4982089:4982160:4982757:4982892 | 4982089:4982160 |
| exon_skip_169053 | chr17 | 4970340:4970536:4972232:4972536:4972769:4972793 | 4972232:4972536 |
| exon_skip_172391 | chr17 | 4981719:4981831:4982089:4982227:4982757:4982892 | 4982089:4982227 |
| exon_skip_192614 | chr17 | 4974385:4974500:4977058:4977192:4978504:4978569 | 4977058:4977192 |
| exon_skip_200110 | chr17 | 4981225:4981359:4981678:4981831:4982089:4982160 | 4981678:4981831 |
| exon_skip_205814 | chr17 | 4981719:4981831:4982089:4982175:4982757:4982852 | 4982089:4982175 |
| exon_skip_214641 | chr17 | 4981719:4981831:4982089:4982227:4982757:4982780 | 4982089:4982227 |
| exon_skip_222893 | chr17 | 4985896:4985983:4986192:4986286:4987593:4987632 | 4986192:4986286 |
| exon_skip_229272 | chr17 | 4981225:4981359:4981678:4981831:4982757:4982855 | 4981678:4981831 |
| exon_skip_23006 | chr17 | 4981719:4981831:4982089:4982175:4982757:4982780 | 4982089:4982175 |
| exon_skip_232622 | chr17 | 4981225:4981359:4981678:4981742:4982757:4982852 | 4981678:4981742 |
| exon_skip_233227 | chr17 | 4969266:4969337:4969500:4969520:4969630:4969701 | 4969500:4969520 |
| exon_skip_238113 | chr17 | 4982802:4982892:4982976:4983043:4985880:4985983 | 4982976:4983043 |
| exon_skip_254946 | chr17 | 4981225:4981359:4981678:4981831:4982757:4982852 | 4981678:4981831 |
| exon_skip_276560 | chr17 | 4982976:4983043:4985880:4985983:4986192:4986213 | 4985880:4985983 |
| exon_skip_283180 | chr17 | 4981719:4981831:4982089:4982175:4982757:4982855 | 4982089:4982175 |
| exon_skip_284114 | chr17 | 4969150:4969337:4969500:4969520:4969630:4969701 | 4969500:4969520 |
| exon_skip_288973 | chr17 | 4982976:4983043:4985880:4985983:4987593:4987632 | 4985880:4985983 |
| exon_skip_290161 | chr17 | 4981719:4981831:4982089:4982227:4982757:4982855 | 4982089:4982227 |
| exon_skip_295358 | chr17 | 4973175:4973253:4973585:4973769:4974385:4974500 | 4973585:4973769 |
| exon_skip_36678 | chr17 | 4981225:4981359:4981678:4981742:4982757:4982892 | 4981678:4981742 |
| exon_skip_38389 | chr17 | 4981719:4981831:4982089:4982227:4982757:4982852 | 4982089:4982227 |
| exon_skip_39121 | chr17 | 4981225:4981359:4981678:4981742:4982757:4982855 | 4981678:4981742 |
| exon_skip_68350 | chr17 | 4981719:4981831:4982089:4982160:4982757:4982855 | 4982089:4982160 |
| exon_skip_94307 | chr17 | 4981719:4981831:4982089:4982160:4982757:4982780 | 4982089:4982160 |
| 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 CAMTA2 |
| 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 |
| ENST00000348066 | 4986192 | 4986286 | 3UTR-3CDS |
| ENST00000348066 | 4972232 | 4972536 | Frame-shift |
| ENST00000348066 | 4973585 | 4973769 | Frame-shift |
| ENST00000348066 | 4981678 | 4981831 | Frame-shift |
| ENST00000348066 | 4985880 | 4985983 | Frame-shift |
| ENST00000348066 | 4969500 | 4969520 | In-frame |
| ENST00000348066 | 4977058 | 4977192 | In-frame |
| ENST00000348066 | 4982089 | 4982160 | 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 |
| ENST00000348066 | 4973585 | 4973769 | Frame-shift |
| ENST00000348066 | 4981678 | 4981831 | Frame-shift |
| ENST00000348066 | 4985880 | 4985983 | Frame-shift |
| ENST00000348066 | 4969500 | 4969520 | In-frame |
| ENST00000348066 | 4982089 | 4982160 | 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 |
| ENST00000348066 | 4986192 | 4986286 | 3UTR-3CDS |
| ENST00000348066 | 4972232 | 4972536 | Frame-shift |
| ENST00000348066 | 4973585 | 4973769 | Frame-shift |
| ENST00000348066 | 4981678 | 4981831 | Frame-shift |
| ENST00000348066 | 4982976 | 4983043 | Frame-shift |
| ENST00000348066 | 4985880 | 4985983 | Frame-shift |
| ENST00000348066 | 4969500 | 4969520 | In-frame |
| ENST00000348066 | 4977058 | 4977192 | In-frame |
| ENST00000348066 | 4982089 | 4982160 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CAMTA2 |
p-ENSG00000108509_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 |
| ENST00000348066 | 4508 | 1202 | 4982089 | 4982160 | 464 | 534 | 113 | 136 |
| ENST00000348066 | 4508 | 1202 | 4977058 | 4977192 | 1890 | 2023 | 588 | 633 |
| 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 |
| ENST00000348066 | 4508 | 1202 | 4982089 | 4982160 | 464 | 534 | 113 | 136 |
| 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 |
| ENST00000348066 | 4508 | 1202 | 4982089 | 4982160 | 464 | 534 | 113 | 136 |
| ENST00000348066 | 4508 | 1202 | 4977058 | 4977192 | 1890 | 2023 | 588 | 633 |
| 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 |
| O94983 | 113 | 136 | 1 | 873 | Alternative sequence | ID=VSP_018489;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O94983 | 113 | 136 | 114 | 137 | Alternative sequence | ID=VSP_018492;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| O94983 | 113 | 136 | 1 | 1202 | Chain | ID=PRO_0000235821;Note=Calmodulin-binding transcription activator 2 |
| O94983 | 113 | 136 | 30 | 155 | DNA binding | Note=CG-1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00767 |
| O94983 | 588 | 633 | 1 | 873 | Alternative sequence | ID=VSP_018489;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O94983 | 588 | 633 | 1 | 1202 | Chain | ID=PRO_0000235821;Note=Calmodulin-binding transcription activator 2 |
| O94983 | 588 | 633 | 535 | 617 | Domain | Note=IPT/TIG |
| 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 |
| O94983 | 113 | 136 | 1 | 873 | Alternative sequence | ID=VSP_018489;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O94983 | 113 | 136 | 114 | 137 | Alternative sequence | ID=VSP_018492;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| O94983 | 113 | 136 | 1 | 1202 | Chain | ID=PRO_0000235821;Note=Calmodulin-binding transcription activator 2 |
| O94983 | 113 | 136 | 30 | 155 | DNA binding | Note=CG-1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00767 |
| 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 |
| O94983 | 113 | 136 | 1 | 873 | Alternative sequence | ID=VSP_018489;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O94983 | 113 | 136 | 114 | 137 | Alternative sequence | ID=VSP_018492;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| O94983 | 113 | 136 | 1 | 1202 | Chain | ID=PRO_0000235821;Note=Calmodulin-binding transcription activator 2 |
| O94983 | 113 | 136 | 30 | 155 | DNA binding | Note=CG-1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00767 |
| O94983 | 588 | 633 | 1 | 873 | Alternative sequence | ID=VSP_018489;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O94983 | 588 | 633 | 1 | 1202 | Chain | ID=PRO_0000235821;Note=Calmodulin-binding transcription activator 2 |
| O94983 | 588 | 633 | 535 | 617 | Domain | Note=IPT/TIG |
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3'-UTR located exon skipping events that lost miRNA binding sites in CAMTA2 |
| 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 CAMTA2 |
| - 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 CAMTA2 |
| 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 CAMTA2 |
| 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 CAMTA2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | RBM4 | exon_skip_115991 | -4.102284e-01 | 7.862917e-08 |
| CB | TARDBP | exon_skip_205814 | -4.288410e-01 | 2.099818e-08 |
| CB | RBM4 | exon_skip_205814 | -5.354434e-01 | 5.004296e-13 |
| CB | TARDBP | exon_skip_38389 | -6.270592e-01 | 9.348972e-19 |
| CB | MBNL1 | exon_skip_38389 | -5.251569e-01 | 1.189828e-12 |
| CB | PCBP1 | exon_skip_38389 | -5.587135e-01 | 1.963391e-14 |
| CB | PCBP4 | exon_skip_38389 | 5.325938e-01 | 4.980781e-13 |
| CB | TRA2A | exon_skip_38389 | -4.175615e-01 | 4.351626e-08 |
| CB | PCBP2 | exon_skip_38389 | -4.483954e-01 | 3.081861e-09 |
| CB | RBM23 | exon_skip_38389 | -5.723915e-01 | 3.216038e-15 |
| CB | SRSF1 | exon_skip_38389 | -5.148793e-01 | 3.830087e-12 |
| CB | HNRNPF | exon_skip_38389 | -5.896732e-01 | 2.891124e-16 |
| CB | RBM4 | exon_skip_38389 | -5.885149e-01 | 3.413076e-16 |
| CB | RBM6 | exon_skip_160348 | -4.167823e-01 | 3.258049e-06 |
| CB | TRA2A | exon_skip_160348 | -4.481132e-01 | 4.555386e-07 |
| CB | NUP42 | exon_skip_160348 | 4.582262e-01 | 2.312009e-07 |
| CB | PTBP1 | exon_skip_160348 | -5.236365e-01 | 1.624901e-09 |
| CB | RBM4 | exon_skip_160348 | -5.760884e-01 | 1.323098e-11 |
| DLPFC | ELAVL4 | exon_skip_284114 | 5.891683e-01 | 2.426846e-33 |
| FL | SRSF2 | exon_skip_284114 | 4.937144e-01 | 1.233004e-12 |
| FL | ELAVL4 | exon_skip_284114 | 6.043534e-01 | 1.327858e-19 |
| HCC | SRSF11 | exon_skip_284114 | -5.357786e-01 | 1.098970e-21 |
| IFG | ELAVL4 | exon_skip_284114 | 5.035694e-01 | 6.298112e-03 |
| PCC | ELAVL4 | exon_skip_284114 | 6.307050e-01 | 3.879621e-25 |
| PG | SRSF2 | exon_skip_284114 | 4.865121e-01 | 6.913057e-11 |
| PG | ELAVL4 | exon_skip_284114 | 6.657943e-01 | 7.593078e-22 |
| PG | SRSF11 | exon_skip_284114 | 4.842678e-01 | 8.697048e-11 |
| PG | ZCRB1 | exon_skip_284114 | 4.288000e-01 | 1.539440e-08 |
| STG | ELAVL4 | exon_skip_284114 | 4.055341e-01 | 2.533205e-04 |
| TC | SRSF2 | exon_skip_233227 | 4.522148e-01 | 1.937501e-09 |
| TC | ELAVL4 | exon_skip_233227 | 8.685243e-01 | 5.005687e-50 |
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RelatedDrugs for CAMTA2 |
| 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 CAMTA2 |
| 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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