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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 CACUL1 |
 Gene summary |
| Gene information | Gene symbol | CACUL1 | Gene ID | 143384 |
| Gene name | CDK2 associated cullin domain 1 | |
| Synonyms | C10orf46|CAC1 | |
| Cytomap | 10q26.11 | |
| Type of gene | protein-coding | |
| Description | CDK2-associated and cullin domain-containing protein 1Cdk-Associated Cullin1cullin | |
| Modification date | 20180522 | |
| UniProtAcc | Q86Y37 | |
| Context | PubMed: CACUL1 [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 |
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Exon skipping events across known transcript of Ensembl for CACUL1 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 CACUL1 |
| 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 CACUL1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_54326 | 10 | 120445508:120445680:120446109:120446153:120450776:120450915 | 120446109:120446153 | ENSG00000151893.10 | ENST00000369151.3,ENST00000544392.1,ENST00000493518.1,ENST00000489169.1 |
| exon_skip_54327 | 10 | 120446109:120446153:120450776:120450915:120454652:120454742 | 120450776:120450915 | ENSG00000151893.10 | ENST00000369151.3,ENST00000544392.1 |
| exon_skip_54328 | 10 | 120450776:120450915:120453213:120453261:120454652:120454742 | 120453213:120453261 | ENSG00000151893.10 | ENST00000493518.1 |
| exon_skip_54329 | 10 | 120450776:120450915:120454652:120454742:120460817:120460920 | 120454652:120454742 | ENSG00000151893.10 | ENST00000369151.3,ENST00000544392.1 |
| exon_skip_54332 | 10 | 120467003:120467099:120488806:120488909:120489795:120489922 | 120488806:120488909 | ENSG00000151893.10 | ENST00000340214.4,ENST00000369151.3,ENST00000493518.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CACUL1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_54326 | 10 | 120445508:120445680:120446109:120446153:120450776:120450915 | 120446109:120446153 | ENSG00000151893.10 | ENST00000544392.1,ENST00000369151.3,ENST00000493518.1,ENST00000489169.1 |
| exon_skip_54327 | 10 | 120446109:120446153:120450776:120450915:120454652:120454742 | 120450776:120450915 | ENSG00000151893.10 | ENST00000544392.1,ENST00000369151.3 |
| exon_skip_54328 | 10 | 120450776:120450915:120453213:120453261:120454652:120454742 | 120453213:120453261 | ENSG00000151893.10 | ENST00000493518.1 |
| exon_skip_54329 | 10 | 120450776:120450915:120454652:120454742:120460817:120460920 | 120454652:120454742 | ENSG00000151893.10 | ENST00000544392.1,ENST00000369151.3 |
| exon_skip_54330 | 10 | 120454652:120454742:120460817:120460920:120467003:120467025 | 120460817:120460920 | ENSG00000151893.10 | ENST00000544392.1,ENST00000369151.3,ENST00000493518.1,ENST00000340214.4,ENST00000481360.1 |
| exon_skip_54332 | 10 | 120467003:120467099:120488806:120488909:120489795:120489922 | 120488806:120488909 | ENSG00000151893.10 | ENST00000369151.3,ENST00000493518.1,ENST00000340214.4 |
| 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 CACUL1 |
| 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 |
| ENST00000369151 | 120446109 | 120446153 | Frame-shift |
| ENST00000369151 | 120450776 | 120450915 | Frame-shift |
| ENST00000369151 | 120488806 | 120488909 | Frame-shift |
| ENST00000369151 | 120454652 | 120454742 | 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 |
| ENST00000369151 | 120446109 | 120446153 | Frame-shift |
| ENST00000369151 | 120450776 | 120450915 | Frame-shift |
| ENST00000369151 | 120460817 | 120460920 | Frame-shift |
| ENST00000369151 | 120488806 | 120488909 | Frame-shift |
| ENST00000369151 | 120454652 | 120454742 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CACUL1 |
| 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 |
| ENST00000369151 | 6750 | 369 | 120454652 | 120454742 | 1281 | 1370 | 265 | 295 |
| 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 |
| ENST00000369151 | 6750 | 369 | 120454652 | 120454742 | 1281 | 1370 | 265 | 295 |
| 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 |
| Q86Y37 | 265 | 295 | 1 | 369 | Chain | ID=PRO_0000119817;Note=CDK2-associated and cullin domain-containing protein 1 |
| 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 |
| Q86Y37 | 265 | 295 | 1 | 369 | Chain | ID=PRO_0000119817;Note=CDK2-associated and cullin domain-containing protein 1 |
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SNVs in the skipped exons for CACUL1 |
| - 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-BC-A112-01 | exon_skip_54326 | 120446110 | 120446153 | 120446124 | 120446125 | Frame_Shift_Ins | - | C | p.*352fs |
| UCS | TCGA-ND-A4WC-01 | exon_skip_54327 | 120450777 | 120450915 | 120450802 | 120450802 | Nonsense_Mutation | C | A | p.E334* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_54327 | 120450777 | 120450915 | 120450802 | 120450802 | Nonsense_Mutation | C | A | p.E334X |
| SKCM | TCGA-FS-A1ZK-06 | exon_skip_54327 | 120450777 | 120450915 | 120450808 | 120450808 | Nonsense_Mutation | G | A | p.Q332* |
| SKCM | TCGA-FS-A1ZK-06 | exon_skip_54327 | 120450777 | 120450915 | 120450808 | 120450808 | Nonsense_Mutation | G | A | p.Q332X |
| - 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 |
| SNU81_LARGE_INTESTINE | 120450777 | 120450915 | 120450804 | 120450804 | Missense_Mutation | C | A | p.R333I |
| MDAMB361_BREAST | 120450777 | 120450915 | 120450820 | 120450820 | Missense_Mutation | C | G | p.D328H |
| SW982_SOFT_TISSUE | 120450777 | 120450915 | 120450861 | 120450861 | Missense_Mutation | G | T | p.P314H |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 120450777 | 120450915 | 120450871 | 120450871 | Missense_Mutation | T | C | p.N311D |
| DU145_PROSTATE | 120454653 | 120454742 | 120454689 | 120454689 | Missense_Mutation | C | A | p.A284S |
| SNGM_ENDOMETRIUM | 120454653 | 120454742 | 120454728 | 120454728 | Missense_Mutation | C | T | p.A271T |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 120450777 | 120450915 | 120450914 | 120450914 | Splice_Site | C | T | p.E296E |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CACUL1 |
| 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 CACUL1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CACUL1 |
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RelatedDrugs for CACUL1 |
| 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 CACUL1 |
| 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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