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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 CAMK2A |
 Gene summary |
| Gene information | Gene symbol | CAMK2A | Gene ID | 815 |
| Gene name | calcium/calmodulin dependent protein kinase II alpha | |
| Synonyms | CAMKA|MRD53 | |
| Cytomap | 5q32 | |
| Type of gene | protein-coding | |
| Description | calcium/calmodulin-dependent protein kinase type II subunit alphaCaM kinase II alpha subunitCaM-kinase II alpha chainCaMK-II alpha subunitCaMKIINalphacaM kinase II subunit alphacaMK-II subunit alphacalcium/calmodulin-dependent protein kinase (CaM k | |
| Modification date | 20180523 | |
| UniProtAcc | Q9UQM7 | |
| Context | PubMed: CAMK2A [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 |
| CAMK2A | GO:0006468 | protein phosphorylation | 17052756 |
| CAMK2A | GO:0038166 | angiotensin-activated signaling pathway | 20584908 |
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Exon skipping events across known transcript of Ensembl for CAMK2A 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 CAMK2A |
| 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 CAMK2A |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_445329 | 5 | 149602551:149602780:149607754:149607849:149610867:149610943 | 149607754:149607849 | ENSG00000070808.11 | ENST00000351010.6,ENST00000398376.3,ENST00000348628.6 |
| exon_skip_445332 | 5 | 149607754:149607849:149610867:149610943:149618262:149618311 | 149610867:149610943 | ENSG00000070808.11 | ENST00000351010.6,ENST00000398376.3,ENST00000348628.6 |
| exon_skip_445333 | 5 | 149618262:149618311:149619266:149619299:149624723:149624764 | 149619266:149619299 | ENSG00000070808.11 | ENST00000398376.3,ENST00000508662.1 |
| exon_skip_445334 | 5 | 149629788:149629872:149630250:149630373:149631312:149631407 | 149630250:149630373 | ENSG00000070808.11 | ENST00000398376.3,ENST00000348628.6,ENST00000508662.1 |
| exon_skip_445336 | 5 | 149631544:149631628:149633006:149633109:149636135:149636208 | 149633006:149633109 | ENSG00000070808.11 | ENST00000398376.3,ENST00000348628.6,ENST00000508662.1 |
| exon_skip_445338 | 5 | 149637125:149637180:149644518:149644578:149652627:149652722 | 149644518:149644578 | ENSG00000070808.11 | ENST00000510347.1,ENST00000398376.3,ENST00000348628.6 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CAMK2A |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_445329 | 5 | 149602551:149602780:149607754:149607849:149610867:149610943 | 149607754:149607849 | ENSG00000070808.11 | ENST00000348628.6,ENST00000351010.6,ENST00000398376.3 |
| exon_skip_445332 | 5 | 149607754:149607849:149610867:149610943:149618262:149618311 | 149610867:149610943 | ENSG00000070808.11 | ENST00000348628.6,ENST00000351010.6,ENST00000398376.3 |
| exon_skip_445333 | 5 | 149618262:149618311:149619266:149619299:149624723:149624764 | 149619266:149619299 | ENSG00000070808.11 | ENST00000398376.3,ENST00000508662.1 |
| exon_skip_445334 | 5 | 149629788:149629872:149630250:149630373:149631312:149631407 | 149630250:149630373 | ENSG00000070808.11 | ENST00000348628.6,ENST00000398376.3,ENST00000508662.1 |
| exon_skip_445336 | 5 | 149631544:149631628:149633006:149633109:149636135:149636208 | 149633006:149633109 | ENSG00000070808.11 | ENST00000348628.6,ENST00000398376.3,ENST00000508662.1 |
| exon_skip_445338 | 5 | 149637125:149637180:149644518:149644578:149652627:149652722 | 149644518:149644578 | ENSG00000070808.11 | ENST00000348628.6,ENST00000398376.3,ENST00000510347.1 |
| 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 CAMK2A |
| 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 |
| ENST00000348628 | 149607754 | 149607849 | Frame-shift |
| ENST00000348628 | 149610867 | 149610943 | Frame-shift |
| ENST00000348628 | 149633006 | 149633109 | Frame-shift |
| ENST00000348628 | 149630250 | 149630373 | In-frame |
| ENST00000348628 | 149644518 | 149644578 | In-frame |
| 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 |
| ENST00000348628 | 149607754 | 149607849 | Frame-shift |
| ENST00000348628 | 149610867 | 149610943 | Frame-shift |
| ENST00000348628 | 149633006 | 149633109 | Frame-shift |
| ENST00000348628 | 149630250 | 149630373 | In-frame |
| ENST00000348628 | 149644518 | 149644578 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CAMK2A |
| 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 |
| ENST00000348628 | 5339 | 478 | 149644518 | 149644578 | 824 | 883 | 52 | 72 |
| ENST00000348628 | 5339 | 478 | 149630250 | 149630373 | 1360 | 1482 | 231 | 272 |
| 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 |
| ENST00000348628 | 5339 | 478 | 149644518 | 149644578 | 824 | 883 | 52 | 72 |
| ENST00000348628 | 5339 | 478 | 149630250 | 149630373 | 1360 | 1482 | 231 | 272 |
| 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 |
| Q9UQM7 | 52 | 72 | 1 | 478 | Chain | ID=PRO_0000086091;Note=Calcium/calmodulin-dependent protein kinase type II subunit alpha |
| Q9UQM7 | 52 | 72 | 13 | 271 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q9UQM7 | 52 | 72 | 51 | 66 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2VZ6 |
| Q9UQM7 | 231 | 272 | 1 | 478 | Chain | ID=PRO_0000086091;Note=Calcium/calmodulin-dependent protein kinase type II subunit alpha |
| Q9UQM7 | 231 | 272 | 13 | 271 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q9UQM7 | 231 | 272 | 236 | 239 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2VZ6 |
| Q9UQM7 | 231 | 272 | 242 | 251 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2VZ6 |
| Q9UQM7 | 231 | 272 | 262 | 265 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2VZ6 |
| Q9UQM7 | 231 | 272 | 269 | 272 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2VZ6 |
| Q9UQM7 | 231 | 272 | 257 | 257 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P11275 |
| Q9UQM7 | 231 | 272 | 235 | 235 | Natural variant | ID=VAR_080585;Note=In MRD53%3B unknown pathological significance%3B no effect on protein abundance%3B no effect on autophosphorylation%3B no effect on neuronal migration. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29100089;Dbxref=dbSNP:rs8 |
| Q9UQM7 | 231 | 272 | 256 | 258 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2VZ6 |
| 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 |
| Q9UQM7 | 52 | 72 | 1 | 478 | Chain | ID=PRO_0000086091;Note=Calcium/calmodulin-dependent protein kinase type II subunit alpha |
| Q9UQM7 | 52 | 72 | 13 | 271 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q9UQM7 | 52 | 72 | 51 | 66 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2VZ6 |
| Q9UQM7 | 231 | 272 | 1 | 478 | Chain | ID=PRO_0000086091;Note=Calcium/calmodulin-dependent protein kinase type II subunit alpha |
| Q9UQM7 | 231 | 272 | 13 | 271 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q9UQM7 | 231 | 272 | 236 | 239 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2VZ6 |
| Q9UQM7 | 231 | 272 | 242 | 251 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2VZ6 |
| Q9UQM7 | 231 | 272 | 262 | 265 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2VZ6 |
| Q9UQM7 | 231 | 272 | 269 | 272 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2VZ6 |
| Q9UQM7 | 231 | 272 | 257 | 257 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P11275 |
| Q9UQM7 | 231 | 272 | 235 | 235 | Natural variant | ID=VAR_080585;Note=In MRD53%3B unknown pathological significance%3B no effect on protein abundance%3B no effect on autophosphorylation%3B no effect on neuronal migration. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29100089;Dbxref=dbSNP:rs8 |
| Q9UQM7 | 231 | 272 | 256 | 258 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2VZ6 |
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SNVs in the skipped exons for CAMK2A |
| - 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_445332 | 149610868 | 149610943 | 149610921 | 149610921 | Frame_Shift_Del | T | - | p.K352fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_445332 | 149610868 | 149610943 | 149610921 | 149610921 | Frame_Shift_Del | T | - | p.K352fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_445332 | 149610868 | 149610943 | 149610921 | 149610921 | Frame_Shift_Del | T | - | p.K352fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_445334 | 149630251 | 149630373 | 149630342 | 149630342 | Frame_Shift_Del | G | - | p.P242fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_445338 | 149644519 | 149644578 | 149644526 | 149644526 | Frame_Shift_Del | G | - | p.P70fs |
| UCEC | TCGA-B5-A11E-01 | exon_skip_445336 | 149633007 | 149633109 | 149633037 | 149633037 | Nonsense_Mutation | C | A | p.E162* |
| - 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 |
| RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 149607755 | 149607849 | 149607839 | 149607839 | Missense_Mutation | C | A | p.D374Y |
| COLO775_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 149607755 | 149607849 | 149607839 | 149607839 | Missense_Mutation | C | A | p.D374Y |
| ESS1_ENDOMETRIUM | 149633007 | 149633109 | 149633104 | 149633104 | Missense_Mutation | C | A | p.E139D |
| MFE319_ENDOMETRIUM | 149630251 | 149630373 | 149630258 | 149630258 | Nonsense_Mutation | C | T | p.W270* |
| NCIH1435_LUNG | 149630251 | 149630373 | 149630356 | 149630356 | Nonsense_Mutation | C | T | p.W237* |
| ALLSIL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 149644519 | 149644578 | 149644519 | 149644519 | Splice_Site | C | T | p.V73I |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CAMK2A |
| 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 CAMK2A |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CAMK2A |
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RelatedDrugs for CAMK2A |
| 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 |
| Q9UQM7 | DB12010 | Fostamatinib | Calcium/calmodulin-dependent protein kinase type II subunit alpha | small molecule | approved|investigational |
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RelatedDiseases for CAMK2A |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CAMK2A | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
| CAMK2A | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| CAMK2A | C0011570 | Mental Depression | 1 | PSYGENET |
| CAMK2A | C0011581 | Depressive disorder | 1 | PSYGENET |
| CAMK2A | C0019202 | Hepatolenticular Degeneration | 1 | CTD_human |
| CAMK2A | C0020429 | Hyperalgesia | 1 | CTD_human |
| CAMK2A | C0041696 | Unipolar Depression | 1 | PSYGENET |
| CAMK2A | C0236736 | Cocaine-Related Disorders | 1 | CTD_human |
| CAMK2A | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
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