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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 CSNK1D |
 Gene summary |
| Gene information | Gene symbol | CSNK1D | Gene ID | 1453 |
| Gene name | casein kinase 1 delta | |
| Synonyms | ASPS|CKI-delta|CKId|CKIdelta|FASPS2|HCKID | |
| Cytomap | 17q25.3 | |
| Type of gene | protein-coding | |
| Description | casein kinase I isoform deltacasein kinase Itau-protein kinase CSNK1D | |
| Modification date | 20180529 | |
| UniProtAcc | P48730 | |
| Context | PubMed: CSNK1D [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 |
| CSNK1D | GO:0006468 | protein phosphorylation | 16618118 |
| CSNK1D | GO:0018105 | peptidyl-serine phosphorylation | 25500533 |
| CSNK1D | GO:0051225 | spindle assembly | 10826492 |
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Exon skipping events across known transcript of Ensembl for CSNK1D 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 CSNK1D |
| 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 CSNK1D |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_294973 | 17 | 80202597:80202707:80203851:80203915:80206750:80206785 | 80203851:80203915 | ENSG00000141551.10 | ENST00000578501.1,ENST00000580784.1,ENST00000269361.7,ENST00000392334.2,ENST00000584377.1 |
| exon_skip_294981 | 17 | 80207364:80207478:80207573:80208055:80209254:80209290 | 80207573:80208055 | ENSG00000141551.10 | ENST00000580784.1 |
| exon_skip_294989 | 17 | 80210309:80210403:80210891:80211120:80213304:80213392 | 80210891:80211120 | ENSG00000141551.10 | ENST00000269361.7 |
| exon_skip_294999 | 17 | 80210372:80210480:80210891:80211120:80213304:80213392 | 80210891:80211120 | ENSG00000141551.10 | ENST00000578904.1,ENST00000314028.6,ENST00000582844.1,ENST00000580446.1,ENST00000392334.2,ENST00000398519.5 |
| exon_skip_295000 | 17 | 80210372:80210480:80210891:80211120:80223561:80223672 | 80210891:80211120 | ENSG00000141551.10 | ENST00000581241.1 |
| exon_skip_295005 | 17 | 80210372:80210480:80213304:80213453:80223561:80223672 | 80213304:80213453 | ENSG00000141551.10 | ENST00000403276.3 |
| exon_skip_295006 | 17 | 80211095:80211120:80213304:80213453:80223561:80223672 | 80213304:80213453 | ENSG00000141551.10 | ENST00000314028.6,ENST00000578194.1,ENST00000582844.1,ENST00000392334.2,ENST00000581660.1,ENST00000398519.5 |
| exon_skip_295007 | 17 | 80213313:80213453:80223561:80223672:80231181:80231245 | 80223561:80223672 | ENSG00000141551.10 | ENST00000314028.6,ENST00000403276.3,ENST00000579316.1,ENST00000392334.2,ENST00000584472.1,ENST00000398519.5 |
| exon_skip_295009 | 17 | 80223561:80223672:80224600:80224770:80231181:80231245 | 80224600:80224770 | ENSG00000141551.10 | ENST00000581660.1 |
| exon_skip_295011 | 17 | 80224600:80224767:80224858:80224908:80231181:80231276 | 80224858:80224908 | ENSG00000141551.10 | ENST00000585026.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CSNK1D |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_294973 | 17 | 80202597:80202707:80203851:80203915:80206750:80206785 | 80203851:80203915 | ENSG00000141551.10 | ENST00000584377.1,ENST00000392334.2,ENST00000578501.1,ENST00000580784.1,ENST00000269361.7 |
| exon_skip_294981 | 17 | 80207364:80207478:80207573:80208055:80209254:80209290 | 80207573:80208055 | ENSG00000141551.10 | ENST00000580784.1 |
| exon_skip_294989 | 17 | 80210309:80210403:80210891:80211120:80213304:80213392 | 80210891:80211120 | ENSG00000141551.10 | ENST00000269361.7 |
| exon_skip_294999 | 17 | 80210372:80210480:80210891:80211120:80213304:80213392 | 80210891:80211120 | ENSG00000141551.10 | ENST00000398519.5,ENST00000314028.6,ENST00000392334.2,ENST00000582844.1,ENST00000578904.1,ENST00000580446.1 |
| exon_skip_295000 | 17 | 80210372:80210480:80210891:80211120:80223561:80223672 | 80210891:80211120 | ENSG00000141551.10 | ENST00000581241.1 |
| exon_skip_295005 | 17 | 80210372:80210480:80213304:80213453:80223561:80223672 | 80213304:80213453 | ENSG00000141551.10 | ENST00000403276.3 |
| exon_skip_295006 | 17 | 80211095:80211120:80213304:80213453:80223561:80223672 | 80213304:80213453 | ENSG00000141551.10 | ENST00000398519.5,ENST00000314028.6,ENST00000392334.2,ENST00000582844.1,ENST00000581660.1,ENST00000578194.1 |
| exon_skip_295007 | 17 | 80213313:80213453:80223561:80223672:80231181:80231245 | 80223561:80223672 | ENSG00000141551.10 | ENST00000398519.5,ENST00000314028.6,ENST00000392334.2,ENST00000403276.3,ENST00000579316.1,ENST00000584472.1 |
| exon_skip_295009 | 17 | 80223561:80223672:80224600:80224770:80231181:80231245 | 80224600:80224770 | ENSG00000141551.10 | ENST00000581660.1 |
| exon_skip_295011 | 17 | 80224600:80224767:80224858:80224908:80231181:80231276 | 80224858:80224908 | ENSG00000141551.10 | ENST00000585026.1 |
| 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 CSNK1D |
| 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 |
| ENST00000314028 | 80210891 | 80211120 | Frame-shift |
| ENST00000314028 | 80213304 | 80213453 | Frame-shift |
| ENST00000314028 | 80223561 | 80223672 | 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 |
| ENST00000314028 | 80210891 | 80211120 | Frame-shift |
| ENST00000314028 | 80213304 | 80213453 | Frame-shift |
| ENST00000314028 | 80223561 | 80223672 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CSNK1D |
| 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 |
| ENST00000314028 | 3729 | 415 | 80223561 | 80223672 | 427 | 537 | 25 | 62 |
| 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 |
| ENST00000314028 | 3729 | 415 | 80223561 | 80223672 | 427 | 537 | 25 | 62 |
| 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 |
| P48730 | 25 | 62 | 21 | 28 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4TWC |
| P48730 | 25 | 62 | 33 | 41 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4TWC |
| P48730 | 25 | 62 | 44 | 46 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4TWC |
| P48730 | 25 | 62 | 38 | 38 | Binding site | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P48730 | 25 | 62 | 1 | 415 | Chain | ID=PRO_0000192833;Note=Casein kinase I isoform delta |
| P48730 | 25 | 62 | 9 | 277 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P48730 | 25 | 62 | 49 | 59 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4TWC |
| P48730 | 25 | 62 | 38 | 38 | Mutagenesis | Note=Impaired kinase activity and abnormal subcellular localization with exclusive accumulation to the nucleus. K->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11161704;Dbxref=PMID:11161704 |
| P48730 | 25 | 62 | 44 | 44 | Natural variant | ID=VAR_029075;Note=In FASPS2%3B strongly reduces kinase activity. T->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15800623,ECO:0000269|PubMed:23636092;Dbxref=dbSNP:rs104894561,PMID:15800623,PMID:23636092 |
| P48730 | 25 | 62 | 46 | 46 | Natural variant | ID=VAR_069801;Note=In FASPS2%3B strongly reduces kinase activity. H->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23636092;Dbxref=dbSNP:rs397514693,PMID:23636092 |
| P48730 | 25 | 62 | 29 | 32 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4TWC |
| 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 |
| P48730 | 25 | 62 | 21 | 28 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4TWC |
| P48730 | 25 | 62 | 33 | 41 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4TWC |
| P48730 | 25 | 62 | 44 | 46 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4TWC |
| P48730 | 25 | 62 | 38 | 38 | Binding site | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P48730 | 25 | 62 | 1 | 415 | Chain | ID=PRO_0000192833;Note=Casein kinase I isoform delta |
| P48730 | 25 | 62 | 9 | 277 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P48730 | 25 | 62 | 49 | 59 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4TWC |
| P48730 | 25 | 62 | 38 | 38 | Mutagenesis | Note=Impaired kinase activity and abnormal subcellular localization with exclusive accumulation to the nucleus. K->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11161704;Dbxref=PMID:11161704 |
| P48730 | 25 | 62 | 44 | 44 | Natural variant | ID=VAR_029075;Note=In FASPS2%3B strongly reduces kinase activity. T->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15800623,ECO:0000269|PubMed:23636092;Dbxref=dbSNP:rs104894561,PMID:15800623,PMID:23636092 |
| P48730 | 25 | 62 | 46 | 46 | Natural variant | ID=VAR_069801;Note=In FASPS2%3B strongly reduces kinase activity. H->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23636092;Dbxref=dbSNP:rs397514693,PMID:23636092 |
| P48730 | 25 | 62 | 29 | 32 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4TWC |
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SNVs in the skipped exons for CSNK1D |
| - 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_295007 | 80223562 | 80223672 | 80223619 | 80223619 | Frame_Shift_Del | T | - | p.T44fs |
| SKCM | TCGA-W3-AA1R-06 | exon_skip_295007 | 80223562 | 80223672 | 80223622 | 80223622 | Nonsense_Mutation | T | A | p.K43* |
| - 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 |
| OC316_OVARY | 80210892 | 80211120 | 80210925 | 80210925 | Missense_Mutation | G | A | p.R178W |
| OC314_OVARY | 80210892 | 80211120 | 80210925 | 80210925 | Missense_Mutation | G | A | p.R178W |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 80210892 | 80211120 | 80210954 | 80210954 | Missense_Mutation | C | T | p.R168H |
| SNU349_KIDNEY | 80210892 | 80211120 | 80210978 | 80210978 | Missense_Mutation | C | T | p.R160H |
| CAL33_UPPER_AERODIGESTIVE_TRACT | 80210892 | 80211120 | 80210979 | 80210979 | Missense_Mutation | G | T | p.R160S |
| WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 80210892 | 80211120 | 80211051 | 80211051 | Missense_Mutation | T | A | p.M136L |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 80210892 | 80211120 | 80211066 | 80211066 | Missense_Mutation | G | A | p.P131S |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 80210892 | 80211120 | 80211081 | 80211081 | Missense_Mutation | G | A | p.H126Y |
| SNU1_STOMACH | 80210892 | 80211120 | 80211089 | 80211089 | Missense_Mutation | T | C | p.N123S |
| HCC2998_LARGE_INTESTINE | 80210892 | 80211120 | 80211108 | 80211108 | Missense_Mutation | C | T | p.E117K |
| SNU1040_LARGE_INTESTINE | 80210892 | 80211120 | 80211113 | 80211113 | Missense_Mutation | C | T | p.R115H |
| HCC38_BREAST | 80213305 | 80213453 | 80213339 | 80213339 | Missense_Mutation | C | T | p.S101N |
| HCC2218_BREAST | 80213305 | 80213453 | 80213351 | 80213351 | Missense_Mutation | G | C | p.S97C |
| HCT15_LARGE_INTESTINE | 80223562 | 80223672 | 80223642 | 80223642 | Missense_Mutation | G | A | p.A36V |
| HRT18_LARGE_INTESTINE | 80223562 | 80223672 | 80223642 | 80223642 | Missense_Mutation | G | A | p.A36V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CSNK1D |
| 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 CSNK1D |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CSNK1D |
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RelatedDrugs for CSNK1D |
| 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 CSNK1D |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CSNK1D | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| CSNK1D | C0036341 | Schizophrenia | 1 | PSYGENET |
| CSNK1D | C0041696 | Unipolar Depression | 1 | PSYGENET |
| CSNK1D | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
| CSNK1D | C3808874 | ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2 | 1 | UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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