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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 CYP27A1 |
 Gene summary |
| Gene information | Gene symbol | CYP27A1 | Gene ID | 1593 |
| Gene name | cytochrome P450 family 27 subfamily A member 1 | |
| Synonyms | CP27|CTX|CYP27 | |
| Cytomap | 2q35 | |
| Type of gene | protein-coding | |
| Description | sterol 26-hydroxylase, mitochondrial5-beta-cholestane-3-alpha, 7-alpha, 12-alpha-triol 26-hydroxylase5-beta-cholestane-3-alpha, 7-alpha, 12-alpha-triol 27-hydroxylasecholestanetriol 26-monooxygenasecytochrome P-450C27/25cytochrome P450 27cytochrome | |
| Modification date | 20180519 | |
| UniProtAcc | Q02318 | |
| Context | PubMed: CYP27A1 [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 CYP27A1 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 CYP27A1 |
| 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 CYP27A1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_333844 | 2 | 219646896:219647160:219674299:219674490:219676944:219677038 | 219674299:219674490 | ENSG00000135929.4 | ENST00000258415.4 |
| exon_skip_333847 | 2 | 219678743:219678910:219679102:219679181:219679267:219679480 | 219679102:219679181 | ENSG00000135929.4 | ENST00000258415.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CYP27A1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_333844 | 2 | 219646896:219647160:219674299:219674490:219676944:219677038 | 219674299:219674490 | ENSG00000135929.4 | ENST00000258415.4 |
| exon_skip_333847 | 2 | 219678743:219678910:219679102:219679181:219679267:219679480 | 219679102:219679181 | ENSG00000135929.4 | ENST00000258415.4 |
| 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 CYP27A1 |
| 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 |
| ENST00000258415 | 219674299 | 219674490 | Frame-shift |
| ENST00000258415 | 219679102 | 219679181 | Frame-shift |
| 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 |
| ENST00000258415 | 219674299 | 219674490 | Frame-shift |
| ENST00000258415 | 219679102 | 219679181 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for CYP27A1 |
| 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 CYP27A1 |
| - 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 | 219674300 | 219674490 | 219674477 | 219674477 | Frame_Shift_Del | G | - | p.G145fs | |
| BLCA | TCGA-S5-A6DX-01 | 219674300 | 219674490 | 219674351 | 219674351 | Nonsense_Mutation | C | T | p.Q103* |
| - 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 |
| BV173_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 219674300 | 219674490 | 219674307 | 219674307 | Missense_Mutation | A | G | p.Y88C |
| SW620_LARGE_INTESTINE | 219674300 | 219674490 | 219674428 | 219674428 | Missense_Mutation | C | A | p.N128K |
| RMUGS_OVARY | 219674300 | 219674490 | 219674429 | 219674429 | Missense_Mutation | G | A | p.D129N |
| KMRC2_KIDNEY | 219674300 | 219674490 | 219674445 | 219674445 | Missense_Mutation | A | C | p.K134T |
| NCCSTCK140_STOMACH | 219674300 | 219674490 | 219674445 | 219674445 | Missense_Mutation | A | C | p.K134T |
| SCH_STOMACH | 219674300 | 219674490 | 219674475 | 219674475 | Missense_Mutation | A | G | p.Y144C |
| COLO792_SKIN | 219679103 | 219679181 | 219679119 | 219679119 | Missense_Mutation | C | T | p.P401S |
| HCC2998_LARGE_INTESTINE | 219679103 | 219679181 | 219679150 | 219679150 | Missense_Mutation | T | G | p.I411S |
| JHUEM7_ENDOMETRIUM | 219679103 | 219679181 | 219679181 | 219679181 | Splice_Site | C | T | p.N421N |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CYP27A1 |
| 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 CYP27A1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CYP27A1 |
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RelatedDrugs for CYP27A1 |
| 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 CYP27A1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CYP27A1 | C0238052 | Xanthomatosis, Cerebrotendinous | 9 | CTD_human;ORPHANET;UNIPROT |
| CYP27A1 | C0004153 | Atherosclerosis | 2 | CTD_human |
| CYP27A1 | C0005944 | Metabolic Bone Disorder | 1 | CTD_human |
| CYP27A1 | C0008370 | Cholestasis | 1 | CTD_human |
| CYP27A1 | C0023890 | Liver Cirrhosis | 1 | CTD_human |
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