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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 CAMSAP2 |
 Gene summary |
| Gene information | Gene symbol | CAMSAP2 | Gene ID | 23271 |
| Gene name | calmodulin regulated spectrin associated protein family member 2 | |
| Synonyms | CAMSAP1L1 | |
| Cytomap | 1q32.1 | |
| Type of gene | protein-coding | |
| Description | calmodulin-regulated spectrin-associated protein 2calmodulin-regulated spectrin-associated protein 1-like protein 1 | |
| 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 |
| CAMSAP2 | GO:0000226 | microtubule cytoskeleton organization | 24486153|24706919|24908486|27666745 |
| CAMSAP2 | GO:0031113 | regulation of microtubule polymerization | 24486153|24706919 |
| CAMSAP2 | GO:0050773 | regulation of dendrite development | 24908486 |
| CAMSAP2 | GO:0061564 | axon development | 24908486 |
| CAMSAP2 | GO:1903358 | regulation of Golgi organization | 27666745 |
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Gene structures and expression levels for CAMSAP2 |
| 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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ENSG00000118200
| 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 | ENST00000413307.6 | CAMSAP2-203:protein_coding:CAMSAP2 | 7.943295e+01 | 1.121300e+00 | 3.499626e-05 | 3.041057e-04 |
| 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 CAMSAP2 |
| 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_117048 | chr1 | 200847258:200847292:200847640:200847709:200848032:200850234 | 200847640:200847709 |
| exon_skip_117283 | chr1 | 200760840:200761098:200807376:200807537:200815561:200815644 | 200807376:200807537 |
| exon_skip_128088 | chr1 | 200760839:200761098:200807376:200807537:200815561:200815644 | 200807376:200807537 |
| exon_skip_190688 | chr1 | 200856094:200856125:200857306:200857424:200857754:200858119 | 200857306:200857424 |
| exon_skip_214956 | chr1 | 200832716:200832845:200841994:200842087:200844782:200844869 | 200841994:200842087 |
| exon_skip_236754 | chr1 | 200739779:200739966:200760839:200761098:200807376:200807398 | 200760839:200761098 |
| exon_skip_253189 | chr1 | 200841994:200842087:200844782:200844869:200847210:200847292 | 200844782:200844869 |
| exon_skip_277932 | chr1 | 200841994:200842087:200844782:200844869:200847258:200847292 | 200844782:200844869 |
| exon_skip_34801 | chr1 | 200739779:200739966:200760839:200761098:200807376:200807537 | 200760839:200761098 |
| exon_skip_46216 | chr1 | 200815561:200815644:200828573:200828605:200832200:200832341 | 200828573:200828605 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_46216 | MSBB_STG | 5.843077e-01 | 7.166667e-01 | -1.323590e-01 | 3.823328e-02 |
| exon_skip_46216 | MSBB_PG | 4.418121e-01 | 6.312500e-01 | -1.894379e-01 | 5.566677e-07 |
| exon_skip_46216 | Mayo_TC | 2.582927e-01 | 3.718667e-01 | -1.135740e-01 | 4.902286e-03 |
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Open reading frame (ORF) annotation in the exon skipping event for CAMSAP2 |
| 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 |
| ENST00000236925 | 200760839 | 200761098 | Frame-shift |
| ENST00000236925 | 200844782 | 200844869 | Frame-shift |
| ENST00000236925 | 200807376 | 200807537 | In-frame |
| ENST00000236925 | 200828573 | 200828605 | 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 |
| ENST00000236925 | 200760839 | 200761098 | Frame-shift |
| ENST00000236925 | 200844782 | 200844869 | Frame-shift |
| ENST00000236925 | 200807376 | 200807537 | In-frame |
| ENST00000236925 | 200828573 | 200828605 | 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 |
| ENST00000236925 | 200760839 | 200761098 | Frame-shift |
| ENST00000236925 | 200841994 | 200842087 | Frame-shift |
| ENST00000236925 | 200844782 | 200844869 | Frame-shift |
| ENST00000236925 | 200847640 | 200847709 | Frame-shift |
| ENST00000236925 | 200857306 | 200857424 | Frame-shift |
| ENST00000236925 | 200807376 | 200807537 | In-frame |
| ENST00000236925 | 200828573 | 200828605 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CAMSAP2 |
p-ENSG00000118200_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 |
| ENST00000236925 | 7178 | 1489 | 200807376 | 200807537 | 450 | 610 | 133 | 187 |
| ENST00000236925 | 7178 | 1489 | 200828573 | 200828605 | 696 | 727 | 215 | 226 |
| 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 |
| ENST00000236925 | 7178 | 1489 | 200807376 | 200807537 | 450 | 610 | 133 | 187 |
| ENST00000236925 | 7178 | 1489 | 200828573 | 200828605 | 696 | 727 | 215 | 226 |
| 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 |
| ENST00000236925 | 7178 | 1489 | 200807376 | 200807537 | 450 | 610 | 133 | 187 |
| ENST00000236925 | 7178 | 1489 | 200828573 | 200828605 | 696 | 727 | 215 | 226 |
| 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 |
| Q08AD1 | 133 | 187 | 1 | 1489 | Chain | ID=PRO_0000316832;Note=Calmodulin-regulated spectrin-associated protein 2 |
| Q08AD1 | 133 | 187 | 150 | 150 | Sequence conflict | Note=E->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q08AD1 | 215 | 226 | 216 | 226 | Alternative sequence | ID=VSP_030805;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q08AD1 | 215 | 226 | 1 | 1489 | Chain | ID=PRO_0000316832;Note=Calmodulin-regulated spectrin-associated protein 2 |
| Q08AD1 | 215 | 226 | 222 | 335 | Domain | Note=Calponin-homology (CH);Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00044 |
| 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 |
| Q08AD1 | 133 | 187 | 1 | 1489 | Chain | ID=PRO_0000316832;Note=Calmodulin-regulated spectrin-associated protein 2 |
| Q08AD1 | 133 | 187 | 150 | 150 | Sequence conflict | Note=E->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q08AD1 | 215 | 226 | 216 | 226 | Alternative sequence | ID=VSP_030805;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q08AD1 | 215 | 226 | 1 | 1489 | Chain | ID=PRO_0000316832;Note=Calmodulin-regulated spectrin-associated protein 2 |
| Q08AD1 | 215 | 226 | 222 | 335 | Domain | Note=Calponin-homology (CH);Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00044 |
| 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 |
| Q08AD1 | 133 | 187 | 1 | 1489 | Chain | ID=PRO_0000316832;Note=Calmodulin-regulated spectrin-associated protein 2 |
| Q08AD1 | 133 | 187 | 150 | 150 | Sequence conflict | Note=E->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q08AD1 | 215 | 226 | 216 | 226 | Alternative sequence | ID=VSP_030805;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q08AD1 | 215 | 226 | 1 | 1489 | Chain | ID=PRO_0000316832;Note=Calmodulin-regulated spectrin-associated protein 2 |
| Q08AD1 | 215 | 226 | 222 | 335 | Domain | Note=Calponin-homology (CH);Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00044 |
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3'-UTR located exon skipping events that lost miRNA binding sites in CAMSAP2 |
| 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 CAMSAP2 |
| - 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 CAMSAP2 |
| 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 |
| CDR | MSBB | IFG | exon_skip_46216 | -3.811049e-01 | 4.540176e-02 | chr1 | + | 200815561 | 200815644 | 200828573 | 200828605 | 200832200 | 200832341 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CAMSAP2 |
| 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 CAMSAP2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | SRSF2 | exon_skip_46216 | 4.748493e-01 | 5.594979e-10 |
| CB | EIF4B | exon_skip_46216 | 4.699660e-01 | 8.847015e-10 |
| FL | SRSF2 | exon_skip_46216 | 6.152910e-01 | 5.178394e-22 |
| FL | EIF4B | exon_skip_46216 | 5.733460e-01 | 1.068256e-18 |
| HCC | PCBP2 | exon_skip_46216 | -4.027347e-01 | 5.965437e-12 |
| PG | SRSF2 | exon_skip_46216 | 4.632337e-01 | 2.672752e-12 |
| PG | EIF4B | exon_skip_46216 | 4.237038e-01 | 2.449260e-10 |
| STG | SRSF2 | exon_skip_46216 | 4.922121e-01 | 9.626292e-07 |
| STG | EIF4B | exon_skip_46216 | 4.092928e-01 | 6.816319e-05 |
| TC | SRSF2 | exon_skip_46216 | 5.529335e-01 | 5.963658e-14 |
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RelatedDrugs for CAMSAP2 |
| 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 CAMSAP2 |
| 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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