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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 CAMSAP1 |
 Gene summary |
| Gene information | Gene symbol | CAMSAP1 | Gene ID | 157922 |
| Gene name | calmodulin regulated spectrin associated protein 1 | |
| Synonyms | - | |
| Cytomap | 9q34.3 | |
| Type of gene | protein-coding | |
| Description | calmodulin-regulated spectrin-associated protein 1epididymis secretory sperm binding protein | |
| Modification date | 20200313 | |
| UniProtAcc | B7ZLW1, Q5T5Y3, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| CAMSAP1 | GO:0000226 | microtubule cytoskeleton organization | 24486153|24706919 |
| CAMSAP1 | GO:0031113 | regulation of microtubule polymerization | 24486153|24706919 |
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Gene structures and expression levels for CAMSAP1 |
| 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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ENSG00000130559
| 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 | ENST00000409386.3 | CAMSAP1-203:protein_coding:CAMSAP1 | 3.248986e+02 | 9.793399e-01 | 5.714984e-05 | 4.607375e-04 |
| CB | UP | ENST00000312405.10 | CAMSAP1-201:protein_coding:CAMSAP1 | 2.192925e+02 | 1.306726e+00 | 2.706468e-04 | 1.719587e-03 |
| 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 CAMSAP1 |
| 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_11645 | chr9 | 135881633:135881794:135882816:135883078:135907000:135907054 | 135882816:135883078 |
| exon_skip_145090 | chr9 | 135815097:135815215:135815890:135816005:135817977:135818079 | 135815890:135816005 |
| exon_skip_160278 | chr9 | 135865332:135865364:135866456:135866536:135881633:135881718 | 135866456:135866536 |
| exon_skip_172012 | chr9 | 135819010:135819146:135820839:135823260:135823950:135824034 | 135820839:135823260 |
| exon_skip_175773 | chr9 | 135811515:135811611:135815097:135815215:135817977:135818171 | 135815097:135815215 |
| exon_skip_19143 | chr9 | 135850322:135850461:135862467:135862608:135865332:135865364 | 135862467:135862608 |
| exon_skip_192647 | chr9 | 135850392:135850461:135862467:135862608:135866456:135866536 | 135862467:135862608 |
| exon_skip_215655 | chr9 | 135862467:135862608:135865332:135865364:135866456:135866536 | 135865332:135865364 |
| exon_skip_224612 | chr9 | 135862467:135862608:135866456:135866536:135881633:135881718 | 135866456:135866536 |
| exon_skip_235124 | chr9 | 135815097:135815215:135815890:135816005:135817977:135818171 | 135815890:135816005 |
| exon_skip_263721 | chr9 | 135850322:135850461:135866456:135866536:135881633:135881718 | 135866456:135866536 |
| exon_skip_269039 | chr9 | 135881633:135881794:135882816:135883078:135907000:135907228 | 135882816:135883078 |
| exon_skip_270778 | chr9 | 135850322:135850461:135862467:135862608:135866456:135866536 | 135862467:135862608 |
| exon_skip_35312 | chr9 | 135881633:135881794:135882816:135883078:135907000:135907159 | 135882816:135883078 |
| exon_skip_88672 | chr9 | 135862589:135862608:135865332:135865364:135866456:135866536 | 135865332:135865364 |
| 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 CAMSAP1 |
| 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 |
| ENST00000389532 | 135815890 | 135816005 | Frame-shift |
| ENST00000389532 | 135862467 | 135862608 | Frame-shift |
| ENST00000389532 | 135866456 | 135866536 | 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 |
| ENST00000389532 | 135815890 | 135816005 | Frame-shift |
| ENST00000389532 | 135862467 | 135862608 | Frame-shift |
| ENST00000389532 | 135866456 | 135866536 | 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 |
| ENST00000389532 | 135815890 | 135816005 | Frame-shift |
| ENST00000389532 | 135820839 | 135823260 | Frame-shift |
| ENST00000389532 | 135862467 | 135862608 | Frame-shift |
| ENST00000389532 | 135866456 | 135866536 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CAMSAP1 |
p-ENSG00000130559_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 |
| ENST00000389532 | 7713 | 1602 | 135866456 | 135866536 | 651 | 730 | 195 | 221 |
| 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 |
| ENST00000389532 | 7713 | 1602 | 135866456 | 135866536 | 651 | 730 | 195 | 221 |
| 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 |
| ENST00000389532 | 7713 | 1602 | 135866456 | 135866536 | 651 | 730 | 195 | 221 |
| 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 |
| Q5T5Y3 | 195 | 221 | 1 | 278 | Alternative sequence | ID=VSP_030800;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:19508979;Dbxref=PMID:19508979 |
| Q5T5Y3 | 195 | 221 | 1 | 1602 | Chain | ID=PRO_0000316828;Note=Calmodulin-regulated spectrin-associated protein 1 |
| Q5T5Y3 | 195 | 221 | 216 | 331 | Domain | Note=Calponin-homology (CH);Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00044 |
| Q5T5Y3 | 195 | 221 | 217 | 217 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231 |
| 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 |
| Q5T5Y3 | 195 | 221 | 1 | 278 | Alternative sequence | ID=VSP_030800;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:19508979;Dbxref=PMID:19508979 |
| Q5T5Y3 | 195 | 221 | 1 | 1602 | Chain | ID=PRO_0000316828;Note=Calmodulin-regulated spectrin-associated protein 1 |
| Q5T5Y3 | 195 | 221 | 216 | 331 | Domain | Note=Calponin-homology (CH);Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00044 |
| Q5T5Y3 | 195 | 221 | 217 | 217 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231 |
| 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 |
| Q5T5Y3 | 195 | 221 | 1 | 278 | Alternative sequence | ID=VSP_030800;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:19508979;Dbxref=PMID:19508979 |
| Q5T5Y3 | 195 | 221 | 1 | 1602 | Chain | ID=PRO_0000316828;Note=Calmodulin-regulated spectrin-associated protein 1 |
| Q5T5Y3 | 195 | 221 | 216 | 331 | Domain | Note=Calponin-homology (CH);Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00044 |
| Q5T5Y3 | 195 | 221 | 217 | 217 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231 |
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3'-UTR located exon skipping events that lost miRNA binding sites in CAMSAP1 |
| 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 CAMSAP1 |
| - 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 CAMSAP1 |
| 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 CAMSAP1 |
| 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 CAMSAP1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| FL | MSI1 | exon_skip_215655 | -4.065154e-01 | 5.893939e-09 |
| FL | HNRNPK | exon_skip_215655 | 4.008303e-01 | 1.000056e-08 |
| HCC | MSI1 | exon_skip_215655 | -4.962408e-01 | 3.913318e-17 |
| PCC | MSI1 | exon_skip_88672 | -4.728095e-01 | 6.438381e-12 |
| PG | HNRNPK | exon_skip_215655 | 4.434648e-01 | 1.391238e-09 |
| PG | HNRNPA0 | exon_skip_215655 | 4.176109e-01 | 1.462896e-08 |
| TC | MSI1 | exon_skip_215655 | -4.306800e-01 | 1.726493e-06 |
| TC | HNRNPA0 | exon_skip_215655 | 6.225309e-01 | 1.420818e-13 |
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RelatedDrugs for CAMSAP1 |
| 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 CAMSAP1 |
| 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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