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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 CAMK1D |
 Gene summary |
| Gene information | Gene symbol | CAMK1D | Gene ID | 57118 |
| Gene name | calcium/calmodulin dependent protein kinase ID | |
| Synonyms | CKLiK|CaM-K1|CaMKID | |
| Cytomap | 10p13 | |
| Type of gene | protein-coding | |
| Description | calcium/calmodulin-dependent protein kinase type 1DCAMK1D/ANAPC5 fusionCaM kinase IDCamKI-like protein kinasecaM kinase I deltacaM-KI deltacaMKI delta | |
| Modification date | 20180523 | |
| UniProtAcc | Q8IU85 | |
| Context | PubMed: CAMK1D [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 |
| CAMK1D | GO:0032793 | positive regulation of CREB transcription factor activity | 16324104 |
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Exon skipping events across known transcript of Ensembl for CAMK1D 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 CAMK1D |
| 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 CAMK1D |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_39693 | 10 | 12391731:12391909:12595223:12595355:12708734:12708809 | 12595223:12595355 | ENSG00000183049.8 | ENST00000378845.1 |
| exon_skip_39696 | 10 | 12595223:12595355:12708734:12708809:12802946:12803085 | 12708734:12708809 | ENSG00000183049.8 | ENST00000378847.3,ENST00000378845.1 |
| exon_skip_39697 | 10 | 12811671:12811798:12833156:12833232:12856193:12856306 | 12833156:12833232 | ENSG00000183049.8 | ENST00000378847.3,ENST00000378845.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CAMK1D |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_39693 | 10 | 12391731:12391909:12595223:12595355:12708734:12708809 | 12595223:12595355 | ENSG00000183049.8 | ENST00000378845.1 |
| exon_skip_39696 | 10 | 12595223:12595355:12708734:12708809:12802946:12803085 | 12708734:12708809 | ENSG00000183049.8 | ENST00000378847.3,ENST00000378845.1 |
| exon_skip_39697 | 10 | 12811671:12811798:12833156:12833232:12856193:12856306 | 12833156:12833232 | ENSG00000183049.8 | ENST00000378847.3,ENST00000378845.1 |
| 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 CAMK1D |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for CAMK1D |
| 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 CAMK1D |
| - 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 |
| KIRC | TCGA-B0-5092-01 | exon_skip_39697 | 12833157 | 12833232 | 12833227 | 12833228 | Frame_Shift_Ins | - | A | p.Y212fs |
| KIRC | TCGA-B0-5092-01 | exon_skip_39697 | 12833157 | 12833232 | 12833227 | 12833228 | Frame_Shift_Ins | - | A | p.YL212fs |
| READ | TCGA-AG-A002-01 | exon_skip_39693 | 12595224 | 12595355 | 12595255 | 12595255 | Nonsense_Mutation | G | T | p.E42X |
| - 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 |
| SNU324_PANCREAS | 12595224 | 12595355 | 12595228 | 12595228 | Missense_Mutation | G | A | p.A33T |
| KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 12595224 | 12595355 | 12595291 | 12595291 | Missense_Mutation | A | T | p.I54F |
| SNU520_STOMACH | 12595224 | 12595355 | 12595304 | 12595304 | Missense_Mutation | C | T | p.A58V |
| CAS1_CENTRAL_NERVOUS_SYSTEM | 12708735 | 12708809 | 12708758 | 12708758 | Missense_Mutation | C | T | p.A83V |
| 22RV1_PROSTATE | 12833157 | 12833232 | 12833213 | 12833213 | Missense_Mutation | G | A | p.G208R |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 12708735 | 12708809 | 12708739 | 12708739 | Nonsense_Mutation | A | T | p.K77* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CAMK1D |
| 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 CAMK1D |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CAMK1D |
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RelatedDrugs for CAMK1D |
| 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 |
| Q8IU85 | DB12010 | Fostamatinib | Calcium/calmodulin-dependent protein kinase type 1D | small molecule | approved|investigational |
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RelatedDiseases for CAMK1D |
| 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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