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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 CDT1 |
 Gene summary |
| Gene information | Gene symbol | CDT1 | Gene ID | 81620 |
| Gene name | chromatin licensing and DNA replication factor 1 | |
| Synonyms | DUP|RIS2 | |
| Cytomap | 16q24.3 | |
| Type of gene | protein-coding | |
| Description | DNA replication factor Cdt1Double parked, Drosophila, homolog of | |
| Modification date | 20180527 | |
| UniProtAcc | Q9H211 | |
| Context | PubMed: CDT1 [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 |
| CDT1 | GO:0000076 | DNA replication checkpoint | 14672932 |
| CDT1 | GO:0030174 | regulation of DNA-dependent DNA replication initiation | 11125146 |
| CDT1 | GO:0035563 | positive regulation of chromatin binding | 11125146 |
| CDT1 | GO:0071163 | DNA replication preinitiation complex assembly | 11125146 |
| CDT1 | GO:0072708 | response to sorbitol | 21856198 |
| CDT1 | GO:1902595 | regulation of DNA replication origin binding | 21856198 |
| CDT1 | GO:2000105 | positive regulation of DNA-dependent DNA replication | 11125146 |
| CDT1 | GO:2001178 | positive regulation of mediator complex assembly | 11125146 |
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Exon skipping events across known transcript of Ensembl for CDT1 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 CDT1 |
| 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 CDT1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_139382 | 16 | 88872893:88873082:88873458:88873611:88873688:88873750 | 88873458:88873611 | ENSG00000167513.4 | ENST00000301019.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CDT1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_139382 | 16 | 88872893:88873082:88873458:88873611:88873688:88873750 | 88873458:88873611 | ENSG00000167513.4 | ENST00000301019.4 |
| 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 CDT1 |
| 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 |
| ENST00000301019 | 88873458 | 88873611 | 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 |
| ENST00000301019 | 88873458 | 88873611 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CDT1 |
| 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 |
| ENST00000301019 | 3257 | 546 | 88873458 | 88873611 | 1742 | 1894 | 374 | 425 |
| 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 |
| ENST00000301019 | 3257 | 546 | 88873458 | 88873611 | 1742 | 1894 | 374 | 425 |
| 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 |
| Q9H211 | 374 | 425 | 1 | 546 | Chain | ID=PRO_0000191619;Note=DNA replication factor Cdt1 |
| Q9H211 | 374 | 425 | 420 | 423 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2LE8 |
| Q9H211 | 374 | 425 | 425 | 435 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2LE8 |
| Q9H211 | 374 | 425 | 380 | 380 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q9H211 | 374 | 425 | 394 | 394 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 |
| 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 |
| Q9H211 | 374 | 425 | 1 | 546 | Chain | ID=PRO_0000191619;Note=DNA replication factor Cdt1 |
| Q9H211 | 374 | 425 | 420 | 423 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2LE8 |
| Q9H211 | 374 | 425 | 425 | 435 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2LE8 |
| Q9H211 | 374 | 425 | 380 | 380 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q9H211 | 374 | 425 | 394 | 394 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 |
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SNVs in the skipped exons for CDT1 |
| - 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-G3-A3CJ-01 | exon_skip_139382 | 88873459 | 88873611 | 88873584 | 88873584 | Frame_Shift_Del | G | - | p.K416fs |
| - 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 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CDT1 |
| 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 CDT1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CDT1 |
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RelatedDrugs for CDT1 |
| 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 CDT1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CDT1 | C3151120 | MEIER-GORLIN SYNDROME 4 | 2 | UNIPROT |
| CDT1 | C1868684 | EAR, PATELLA, SHORT STATURE SYNDROME | 1 | CTD_human;ORPHANET |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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