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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for CAMSAP3 |
 Gene summary |
| Gene information | Gene symbol | CAMSAP3 | Gene ID | 57662 |
| Gene name | calmodulin regulated spectrin associated protein family member 3 | |
| Synonyms | KIAA1543|NEZHA|PPP1R80 | |
| Cytomap | 19p13.2 | |
| Type of gene | protein-coding | |
| Description | calmodulin-regulated spectrin-associated protein 3protein phosphatase 1, regulatory subunit 80 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9P1Y5 | |
| Context | PubMed: CAMSAP3 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| CAMSAP3 | GO:0000226 | microtubule cytoskeleton organization | 24486153|27693509 |
| CAMSAP3 | GO:0010923 | negative regulation of phosphatase activity | 19389623 |
| CAMSAP3 | GO:0030334 | regulation of cell migration | 27693509 |
| CAMSAP3 | GO:0030951 | establishment or maintenance of microtubule cytoskeleton polarity | 26715742|27802168 |
| CAMSAP3 | GO:0031113 | regulation of microtubule polymerization | 24486153 |
| CAMSAP3 | GO:0045198 | establishment of epithelial cell apical/basal polarity | 26715742|27802168 |
| CAMSAP3 | GO:0051893 | regulation of focal adhesion assembly | 27693509 |
| CAMSAP3 | GO:1903358 | regulation of Golgi organization | 28089391 |
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Exon skipping events across known transcript of Ensembl for CAMSAP3 from UCSC genome browser |
| Skipped exons in TCGA and GTEx 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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Gene isoform structures and expression levels for CAMSAP3 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for CAMSAP3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_301337 | 19 | 7671361:7671457:7671662:7671695:7672706:7672754 | 7671662:7671695 | ENSG00000076826.5 | ENST00000446248.2 |
| exon_skip_301340 | 19 | 7671662:7671695:7672706:7672754:7673011:7673150 | 7672706:7672754 | ENSG00000076826.5 | ENST00000446248.2 |
| exon_skip_301341 | 19 | 7675361:7675501:7675585:7675679:7675762:7675817 | 7675585:7675679 | ENSG00000076826.5 | ENST00000446248.2,ENST00000160298.4 |
| exon_skip_301344 | 19 | 7675585:7675679:7675762:7675817:7675980:7676054 | 7675762:7675817 | ENSG00000076826.5 | ENST00000446248.2,ENST00000160298.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CAMSAP3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_301337 | 19 | 7671361:7671457:7671662:7671695:7672706:7672754 | 7671662:7671695 | ENSG00000076826.5 | ENST00000446248.2 |
| exon_skip_301340 | 19 | 7671662:7671695:7672706:7672754:7673011:7673150 | 7672706:7672754 | ENSG00000076826.5 | ENST00000446248.2 |
| exon_skip_301341 | 19 | 7675361:7675501:7675585:7675679:7675762:7675817 | 7675585:7675679 | ENSG00000076826.5 | ENST00000160298.4,ENST00000446248.2 |
| exon_skip_301344 | 19 | 7675585:7675679:7675762:7675817:7675980:7676054 | 7675762:7675817 | ENSG00000076826.5 | ENST00000160298.4,ENST00000446248.2 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for CAMSAP3 |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000160298 | 7675585 | 7675679 | Frame-shift |
| ENST00000160298 | 7675762 | 7675817 | Frame-shift |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000160298 | 7675585 | 7675679 | Frame-shift |
| ENST00000160298 | 7675762 | 7675817 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for CAMSAP3 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA 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 GTEx 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 TCGA. |
| 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 GTEx. |
| 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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SNVs in the skipped exons for CAMSAP3 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_301340 | 7672707 | 7672754 | 7672746 | 7672746 | Frame_Shift_Del | C | - | p.P233fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_301340 | 7672707 | 7672754 | 7672746 | 7672746 | Frame_Shift_Del | C | - | p.K231fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_301340 | 7672707 | 7672754 | 7672746 | 7672746 | Frame_Shift_Del | C | - | p.P233fs |
| BLCA | TCGA-4Z-AA7Y-01 | exon_skip_301344 | 7675763 | 7675817 | 7675769 | 7675769 | Frame_Shift_Del | C | - | p.S361fs |
| COAD | TCGA-AZ-6598-01 | exon_skip_301344 | 7675763 | 7675817 | 7675769 | 7675769 | Frame_Shift_Del | C | - | p.S334fs |
| STAD | TCGA-BR-4361-01 | exon_skip_301344 | 7675763 | 7675817 | 7675769 | 7675769 | Frame_Shift_Del | C | - | p.S361fs |
| STAD | TCGA-CG-5721-01 | exon_skip_301344 | 7675763 | 7675817 | 7675769 | 7675769 | Frame_Shift_Del | C | - | p.S361fs |
| SKCM | TCGA-GN-A266-06 | exon_skip_301340 | 7672707 | 7672754 | 7672755 | 7672755 | Splice_Site | G | A | . |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_301344 | 7675763 | 7675817 | 7675818 | 7675818 | Splice_Site | G | A | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| C33A_CERVIX | 7675763 | 7675817 | 7675769 | 7675769 | Frame_Shift_Del | C | - | p.S334fs |
| OC316_OVARY | 7675763 | 7675817 | 7675769 | 7675769 | Frame_Shift_Del | C | - | p.S334fs |
| OC314_OVARY | 7675763 | 7675817 | 7675769 | 7675769 | Frame_Shift_Del | C | - | p.S334fs |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 7675586 | 7675679 | 7675608 | 7675608 | Missense_Mutation | C | T | p.A308V |
| 22RV1_PROSTATE | 7675763 | 7675817 | 7675786 | 7675786 | Missense_Mutation | G | A | p.A340T |
| KIJK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 7675763 | 7675817 | 7675798 | 7675798 | Nonsense_Mutation | C | T | p.Q344* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CAMSAP3 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CAMSAP3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CAMSAP3 |
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RelatedDrugs for CAMSAP3 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for CAMSAP3 |
| 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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