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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 CAMK1 |
 Gene summary |
| Gene information | Gene symbol | CAMK1 | Gene ID | 8536 |
| Gene name | calcium/calmodulin dependent protein kinase I | |
| Synonyms | CAMKI | |
| Cytomap | 3p25.3 | |
| Type of gene | protein-coding | |
| Description | calcium/calmodulin-dependent protein kinase type 1caM kinase I alphacaM-KIcaMKI-alpha | |
| Modification date | 20180523 | |
| UniProtAcc | Q14012 | |
| Context | PubMed: CAMK1 [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 |
| CAMK1 | GO:0006468 | protein phosphorylation | 11114197 |
| CAMK1 | GO:0010976 | positive regulation of neuron projection development | 17442826 |
| CAMK1 | GO:0032091 | negative regulation of protein binding | 23867755 |
| CAMK1 | GO:0032880 | regulation of protein localization | 11114197 |
| CAMK1 | GO:0043393 | regulation of protein binding | 11114197 |
| CAMK1 | GO:0046827 | positive regulation of protein export from nucleus | 23867755 |
| CAMK1 | GO:0051147 | regulation of muscle cell differentiation | 11114197 |
| CAMK1 | GO:0071902 | positive regulation of protein serine/threonine kinase activity | 17442826 |
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Exon skipping events across known transcript of Ensembl for CAMK1 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 CAMK1 |
| 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 CAMK1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_381025 | 3 | 9799075:9799305:9799412:9799530:9801171:9801251 | 9799412:9799530 | ENSG00000134072.6 | ENST00000256460.3 |
| exon_skip_381028 | 3 | 9799412:9799530:9801171:9801259:9801355:9801434 | 9801171:9801259 | ENSG00000134072.6 | ENST00000256460.3,ENST00000496534.1,ENST00000421120.1 |
| exon_skip_381032 | 3 | 9801355:9801434:9802339:9802452:9803144:9803220 | 9802339:9802452 | ENSG00000134072.6 | ENST00000397277.2,ENST00000256460.3,ENST00000421120.1 |
| exon_skip_381039 | 3 | 9803371:9803441:9804597:9804736:9804822:9804897 | 9804597:9804736 | ENSG00000134072.6 | ENST00000397277.2,ENST00000256460.3,ENST00000411972.1 |
| exon_skip_381042 | 3 | 9804822:9804897:9807442:9807574:9809350:9809465 | 9807442:9807574 | ENSG00000134072.6 | ENST00000256460.3 |
| exon_skip_381047 | 3 | 9807442:9807574:9807808:9807897:9809350:9809465 | 9807808:9807897 | ENSG00000134072.6 | ENST00000397277.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CAMK1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_381025 | 3 | 9799075:9799305:9799412:9799530:9801171:9801251 | 9799412:9799530 | ENSG00000134072.6 | ENST00000256460.3 |
| exon_skip_381028 | 3 | 9799412:9799530:9801171:9801259:9801355:9801434 | 9801171:9801259 | ENSG00000134072.6 | ENST00000256460.3,ENST00000496534.1,ENST00000421120.1 |
| exon_skip_381032 | 3 | 9801355:9801434:9802339:9802452:9803144:9803220 | 9802339:9802452 | ENSG00000134072.6 | ENST00000256460.3,ENST00000421120.1,ENST00000397277.2 |
| exon_skip_381039 | 3 | 9803371:9803441:9804597:9804736:9804822:9804897 | 9804597:9804736 | ENSG00000134072.6 | ENST00000256460.3,ENST00000397277.2,ENST00000411972.1 |
| exon_skip_381042 | 3 | 9804822:9804897:9807442:9807574:9809350:9809465 | 9807442:9807574 | ENSG00000134072.6 | ENST00000256460.3 |
| exon_skip_381047 | 3 | 9807442:9807574:9807808:9807897:9809350:9809465 | 9807808:9807897 | ENSG00000134072.6 | ENST00000397277.2 |
| 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 CAMK1 |
| 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 |
| ENST00000256460 | 9799412 | 9799530 | Frame-shift |
| ENST00000256460 | 9801171 | 9801259 | Frame-shift |
| ENST00000256460 | 9802339 | 9802452 | Frame-shift |
| ENST00000256460 | 9804597 | 9804736 | Frame-shift |
| ENST00000256460 | 9807442 | 9807574 | 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 |
| ENST00000256460 | 9799412 | 9799530 | Frame-shift |
| ENST00000256460 | 9801171 | 9801259 | Frame-shift |
| ENST00000256460 | 9802339 | 9802452 | Frame-shift |
| ENST00000256460 | 9804597 | 9804736 | Frame-shift |
| ENST00000256460 | 9807442 | 9807574 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CAMK1 |
| 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 |
| ENST00000256460 | 1505 | 370 | 9807442 | 9807574 | 262 | 393 | 28 | 71 |
| 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 |
| ENST00000256460 | 1505 | 370 | 9807442 | 9807574 | 262 | 393 | 28 | 71 |
| 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 |
| Q14012 | 28 | 71 | 20 | 29 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4FG8 |
| Q14012 | 28 | 71 | 32 | 39 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4FG8 |
| Q14012 | 28 | 71 | 45 | 52 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4FG8 |
| Q14012 | 28 | 71 | 49 | 49 | Binding site | Note=ATP |
| Q14012 | 28 | 71 | 1 | 370 | Chain | ID=PRO_0000086076;Note=Calcium/calmodulin-dependent protein kinase type 1 |
| Q14012 | 28 | 71 | 59 | 59 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:23707388;Dbxref=PMID:23707388 |
| Q14012 | 28 | 71 | 20 | 276 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q14012 | 28 | 71 | 66 | 70 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4FG8 |
| Q14012 | 28 | 71 | 49 | 49 | Mutagenesis | Note=Catalytically inactive form%3B prevents CDK4 activation. K->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14754892,ECO:0000269|PubMed:7641687;Dbxref=PMID:14754892,PMID:7641687 |
| Q14012 | 28 | 71 | 26 | 34 | Nucleotide binding | Note=ATP |
| Q14012 | 28 | 71 | 40 | 42 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4FG8 |
| 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 |
| Q14012 | 28 | 71 | 20 | 29 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4FG8 |
| Q14012 | 28 | 71 | 32 | 39 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4FG8 |
| Q14012 | 28 | 71 | 45 | 52 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4FG8 |
| Q14012 | 28 | 71 | 49 | 49 | Binding site | Note=ATP |
| Q14012 | 28 | 71 | 1 | 370 | Chain | ID=PRO_0000086076;Note=Calcium/calmodulin-dependent protein kinase type 1 |
| Q14012 | 28 | 71 | 59 | 59 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:23707388;Dbxref=PMID:23707388 |
| Q14012 | 28 | 71 | 20 | 276 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q14012 | 28 | 71 | 66 | 70 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4FG8 |
| Q14012 | 28 | 71 | 49 | 49 | Mutagenesis | Note=Catalytically inactive form%3B prevents CDK4 activation. K->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14754892,ECO:0000269|PubMed:7641687;Dbxref=PMID:14754892,PMID:7641687 |
| Q14012 | 28 | 71 | 26 | 34 | Nucleotide binding | Note=ATP |
| Q14012 | 28 | 71 | 40 | 42 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4FG8 |
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SNVs in the skipped exons for CAMK1 |
| - 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-A3A0-01 | exon_skip_381032 | 9802340 | 9802452 | 9802393 | 9802393 | Frame_Shift_Del | A | - | p.L231fs |
| GBM | TCGA-06-5418-01 | exon_skip_381025 | 9799413 | 9799530 | 9799491 | 9799491 | Nonsense_Mutation | T | A | p.K318* |
| - 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 |
| KMRC20_KIDNEY | 9799413 | 9799530 | 9799451 | 9799451 | Missense_Mutation | G | A | p.T331M |
| SKMEL24_SKIN | 9799413 | 9799530 | 9799457 | 9799457 | Missense_Mutation | C | T | p.G329E |
| HEC151_ENDOMETRIUM | 9799413 | 9799530 | 9799495 | 9799495 | Missense_Mutation | C | T | p.M316I |
| MFE296_ENDOMETRIUM | 9799413 | 9799530 | 9799520 | 9799520 | Missense_Mutation | T | C | p.N308S |
| COLO320_LARGE_INTESTINE | 9801172 | 9801259 | 9801218 | 9801218 | Missense_Mutation | G | A | p.S289L |
| GBM001_CENTRAL_NERVOUS_SYSTEM | 9802340 | 9802452 | 9802342 | 9802342 | Missense_Mutation | G | A | p.S248F |
| CW2_LARGE_INTESTINE | 9802340 | 9802452 | 9802379 | 9802379 | Missense_Mutation | C | T | p.E236K |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 9802340 | 9802452 | 9802403 | 9802403 | Missense_Mutation | C | T | p.E228K |
| CP50MELB_SKIN | 9802340 | 9802452 | 9802436 | 9802436 | Missense_Mutation | G | A | p.P217S |
| HCT15_LARGE_INTESTINE | 9802340 | 9802452 | 9802445 | 9802445 | Missense_Mutation | C | T | p.G214S |
| HRT18_LARGE_INTESTINE | 9802340 | 9802452 | 9802445 | 9802445 | Missense_Mutation | C | T | p.G214S |
| SKNAS_AUTONOMIC_GANGLIA | 9804598 | 9804736 | 9804681 | 9804681 | Missense_Mutation | G | A | p.R116W |
| NCIH1734_LUNG | 9807443 | 9807574 | 9807543 | 9807543 | Missense_Mutation | C | A | p.D39Y |
| WM35_SKIN | 9807443 | 9807574 | 9807573 | 9807574 | Splice_Site | CC | TT | p.G29R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CAMK1 |
| 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 CAMK1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CAMK1 |
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RelatedDrugs for CAMK1 |
| 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 |
| Q14012 | DB12010 | Fostamatinib | Calcium/calmodulin-dependent protein kinase type 1 | small molecule | approved|investigational |
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RelatedDiseases for CAMK1 |
| 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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