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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 CAMTA1 |
Gene summary |
Gene information | Gene symbol | CAMTA1 | Gene ID | 23261 |
Gene name | calmodulin binding transcription activator 1 | |
Synonyms | CANPMR | |
Cytomap | 1p36.31-p36.23 | |
Type of gene | protein-coding | |
Description | calmodulin-binding transcription activator 1 | |
Modification date | 20200315 | |
UniProtAcc | A0A0C4DGL0, | |
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 CAMTA1 |
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 |
CB | UP | ENST00000495233.5 | CAMTA1-215:protein_coding:CAMTA1 | 8.525019e+02 | 8.300552e-01 | 5.058148e-04 | 2.909183e-03 |
CB | UP | ENST00000467267.1 | CAMTA1-204:lncRNA:CAMTA1 | 1.080271e+00 | 8.387535e-01 | 2.585059e-03 | 1.140114e-02 |
TC | UP | ENST00000467267.1 | CAMTA1-204:lncRNA:CAMTA1 | 9.784188e-01 | 8.277022e-01 | 7.592771e-03 | 4.570215e-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 CAMTA1 |
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_102585 | chr1 | 6874056:6874423:6886240:6886346:6887654:6887787 | 6886240:6886346 |
exon_skip_103779 | chr1 | 6785552:6785575:6806983:6807088:6825092:6825210 | 6806983:6807088 |
exon_skip_110048 | chr1 | 6825110:6825210:6871757:6871840:6887654:6887787 | 6871757:6871840 |
exon_skip_112505 | chr1 | 6806983:6807088:6820181:6820250:6825092:6825117 | 6820181:6820250 |
exon_skip_126047 | chr1 | 6785552:6785575:6820181:6820250:6825092:6825117 | 6820181:6820250 |
exon_skip_127374 | chr1 | 7752465:7752533:7755638:7755668:7766459:7766522 | 7755638:7755668 |
exon_skip_129745 | chr1 | 6871757:6871840:6886240:6886346:6887654:6887787 | 6886240:6886346 |
exon_skip_154893 | chr1 | 7747710:7747781:7749771:7749791:7751199:7751392 | 7749771:7749791 |
exon_skip_168198 | chr1 | 6825110:6825210:6886240:6886346:6887654:6887842 | 6886240:6886346 |
exon_skip_177029 | chr1 | 6874056:6874423:6886240:6886346:6887654:6887842 | 6886240:6886346 |
exon_skip_180353 | chr1 | 6806988:6807088:6820181:6820250:6825092:6825210 | 6820181:6820250 |
exon_skip_195094 | chr1 | 6871757:6871840:6886240:6886346:6887654:6887842 | 6886240:6886346 |
exon_skip_196102 | chr1 | 6825110:6825210:6886240:6886346:6887654:6887787 | 6886240:6886346 |
exon_skip_205506 | chr1 | 6785552:6785575:6806983:6807088:6825092:6825117 | 6806983:6807088 |
exon_skip_24620 | chr1 | 7751199:7751392:7752459:7752533:7766459:7766522 | 7752459:7752533 |
exon_skip_27255 | chr1 | 7737255:7737570:7737959:7738482:7744835:7745022 | 7737959:7738482 |
exon_skip_273930 | chr1 | 6785552:6785575:6825092:6825210:6871757:6871840 | 6825092:6825210 |
exon_skip_28544 | chr1 | 6785552:6785575:6820181:6820250:6825092:6825210 | 6820181:6820250 |
exon_skip_34238 | chr1 | 6871759:6871840:6886240:6886346:6887654:6887787 | 6886240:6886346 |
exon_skip_45502 | chr1 | 6806983:6807088:6820181:6820250:6825092:6825210 | 6820181:6820250 |
exon_skip_64049 | chr1 | 7661726:7661866:7663353:7665199:7670911:7671037 | 7663353:7665199 |
exon_skip_72713 | chr1 | 7752459:7752533:7755638:7755668:7766459:7766522 | 7755638:7755668 |
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 CAMTA1 |
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 |
ENST00000303635 | 6820181 | 6820250 | Frame-shift |
ENST00000303635 | 7755638 | 7755668 | 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 |
ENST00000303635 | 6820181 | 6820250 | Frame-shift |
ENST00000303635 | 7755638 | 7755668 | 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 |
ENST00000303635 | 6820181 | 6820250 | Frame-shift |
ENST00000303635 | 7663353 | 7665199 | Frame-shift |
ENST00000303635 | 7737959 | 7738482 | Frame-shift |
ENST00000303635 | 7755638 | 7755668 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for CAMTA1 |
p-ENSG00000171735_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 CAMTA1 |
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 CAMTA1 |
- 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 CAMTA1 |
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 CAMTA1 |
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 CAMTA1 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | KHSRP | exon_skip_28544 | -4.148279e-01 | 5.434346e-08 |
CB | RBM4B | exon_skip_28544 | -4.242850e-01 | 2.498189e-08 |
CB | NUP42 | exon_skip_127374 | 5.781167e-01 | 2.222779e-15 |
IFG | SRSF5 | exon_skip_28544 | 4.290440e-01 | 2.271236e-02 |
TC | NUP42 | exon_skip_127374 | 5.996653e-01 | 2.079170e-16 |
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RelatedDrugs for CAMTA1 |
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 CAMTA1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |