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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 CYP46A1 |
 Gene summary |
| Gene information | Gene symbol | CYP46A1 | Gene ID | 10858 |
| Gene name | cytochrome P450 family 46 subfamily A member 1 | |
| Synonyms | CP46|CYP46 | |
| Cytomap | 14q32.2 | |
| Type of gene | protein-coding | |
| Description | cholesterol 24-hydroxylaseCH24Hcytochrome P450 46A1cytochrome P450, family 46, subfamily A, polypeptide 1cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase) | |
| Modification date | 20180523 | |
| UniProtAcc | Q9Y6A2 | |
| Context | PubMed: CYP46A1 [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 |
| CYP46A1 | GO:0006707 | cholesterol catabolic process | 18621681 |
| CYP46A1 | GO:0006805 | xenobiotic metabolic process | 20667828 |
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Exon skipping events across known transcript of Ensembl for CYP46A1 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 CYP46A1 |
| 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 CYP46A1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_109846 | 14 | 100150650:100150873:100157417:100157498:100158116:100158198 | 100157417:100157498 | ENSG00000036530.4 | ENST00000261835.3 |
| exon_skip_109848 | 14 | 100158116:100158198:100161768:100161811:100165802:100165876 | 100161768:100161811 | ENSG00000036530.4 | ENST00000554611.1 |
| exon_skip_109849 | 14 | 100158116:100158198:100165802:100165876:100166351:100166438 | 100165802:100165876 | ENSG00000036530.4 | ENST00000380228.2,ENST00000261835.3,ENST00000423126.2 |
| exon_skip_109851 | 14 | 100166351:100166438:100172983:100173122:100173904:100174015 | 100172983:100173122 | ENSG00000036530.4 | ENST00000554611.1,ENST00000380228.2,ENST00000261835.3,ENST00000423126.2 |
| exon_skip_109854 | 14 | 100172983:100173122:100173904:100174015:100182146:100182297 | 100173904:100174015 | ENSG00000036530.4 | ENST00000380228.2,ENST00000261835.3,ENST00000554176.1,ENST00000423126.2 |
| exon_skip_109856 | 14 | 100184390:100184463:100187575:100187660:100188292:100188344 | 100187575:100187660 | ENSG00000036530.4 | ENST00000554917.1,ENST00000556822.1,ENST00000380228.2,ENST00000261835.3,ENST00000554176.1,ENST00000423126.2,ENST00000556313.1 |
| exon_skip_109857 | 14 | 100188292:100188373:100191727:100191816:100192526:100192593 | 100191727:100191816 | ENSG00000036530.4 | ENST00000554917.1,ENST00000554176.1 |
| exon_skip_109859 | 14 | 100188292:100188403:100191727:100191816:100192526:100192593 | 100191727:100191816 | ENSG00000036530.4 | ENST00000380228.2,ENST00000261835.3,ENST00000423126.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CYP46A1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_109846 | 14 | 100150650:100150873:100157417:100157498:100158116:100158198 | 100157417:100157498 | ENSG00000036530.4 | ENST00000261835.3 |
| exon_skip_109848 | 14 | 100158116:100158198:100161768:100161811:100165802:100165876 | 100161768:100161811 | ENSG00000036530.4 | ENST00000554611.1 |
| exon_skip_109849 | 14 | 100158116:100158198:100165802:100165876:100166351:100166438 | 100165802:100165876 | ENSG00000036530.4 | ENST00000261835.3,ENST00000423126.2,ENST00000380228.2 |
| exon_skip_109851 | 14 | 100166351:100166438:100172983:100173122:100173904:100174015 | 100172983:100173122 | ENSG00000036530.4 | ENST00000554611.1,ENST00000261835.3,ENST00000423126.2,ENST00000380228.2 |
| exon_skip_109854 | 14 | 100172983:100173122:100173904:100174015:100182146:100182297 | 100173904:100174015 | ENSG00000036530.4 | ENST00000261835.3,ENST00000423126.2,ENST00000380228.2,ENST00000554176.1 |
| exon_skip_109856 | 14 | 100184390:100184463:100187575:100187660:100188292:100188344 | 100187575:100187660 | ENSG00000036530.4 | ENST00000261835.3,ENST00000423126.2,ENST00000380228.2,ENST00000554176.1,ENST00000554917.1,ENST00000556313.1,ENST00000556822.1 |
| exon_skip_109857 | 14 | 100188292:100188373:100191727:100191816:100192526:100192593 | 100191727:100191816 | ENSG00000036530.4 | ENST00000554176.1,ENST00000554917.1 |
| exon_skip_109859 | 14 | 100188292:100188403:100191727:100191816:100192526:100192593 | 100191727:100191816 | ENSG00000036530.4 | ENST00000261835.3,ENST00000423126.2,ENST00000380228.2 |
| 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 CYP46A1 |
| 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 |
| ENST00000261835 | 100165802 | 100165876 | Frame-shift |
| ENST00000261835 | 100172983 | 100173122 | Frame-shift |
| ENST00000261835 | 100187575 | 100187660 | Frame-shift |
| ENST00000261835 | 100191727 | 100191816 | Frame-shift |
| ENST00000261835 | 100157417 | 100157498 | In-frame |
| ENST00000261835 | 100173904 | 100174015 | 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 |
| ENST00000261835 | 100165802 | 100165876 | Frame-shift |
| ENST00000261835 | 100172983 | 100173122 | Frame-shift |
| ENST00000261835 | 100187575 | 100187660 | Frame-shift |
| ENST00000261835 | 100191727 | 100191816 | Frame-shift |
| ENST00000261835 | 100157417 | 100157498 | In-frame |
| ENST00000261835 | 100173904 | 100174015 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CYP46A1 |
| 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 |
| ENST00000261835 | 2198 | 500 | 100157417 | 100157498 | 224 | 304 | 40 | 66 |
| ENST00000261835 | 2198 | 500 | 100173904 | 100174015 | 687 | 797 | 194 | 231 |
| 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 |
| ENST00000261835 | 2198 | 500 | 100157417 | 100157498 | 224 | 304 | 40 | 66 |
| ENST00000261835 | 2198 | 500 | 100173904 | 100174015 | 687 | 797 | 194 | 231 |
| 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 |
| Q9Y6A2 | 40 | 66 | 1 | 153 | Alternative sequence | ID=VSP_053858;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9Y6A2 | 40 | 66 | 1 | 97 | Alternative sequence | ID=VSP_053859;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9Y6A2 | 40 | 66 | 1 | 500 | Chain | ID=PRO_0000051994;Note=Cholesterol 24-hydroxylase |
| Q9Y6A2 | 40 | 66 | 60 | 71 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3MDM |
| Q9Y6A2 | 194 | 231 | 1 | 500 | Chain | ID=PRO_0000051994;Note=Cholesterol 24-hydroxylase |
| Q9Y6A2 | 194 | 231 | 180 | 197 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3MDM |
| Q9Y6A2 | 194 | 231 | 203 | 205 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3MDM |
| Q9Y6A2 | 194 | 231 | 209 | 227 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3MDM |
| Q9Y6A2 | 194 | 231 | 230 | 232 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3MDM |
| 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 |
| Q9Y6A2 | 40 | 66 | 1 | 153 | Alternative sequence | ID=VSP_053858;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9Y6A2 | 40 | 66 | 1 | 97 | Alternative sequence | ID=VSP_053859;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9Y6A2 | 40 | 66 | 1 | 500 | Chain | ID=PRO_0000051994;Note=Cholesterol 24-hydroxylase |
| Q9Y6A2 | 40 | 66 | 60 | 71 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3MDM |
| Q9Y6A2 | 194 | 231 | 1 | 500 | Chain | ID=PRO_0000051994;Note=Cholesterol 24-hydroxylase |
| Q9Y6A2 | 194 | 231 | 180 | 197 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3MDM |
| Q9Y6A2 | 194 | 231 | 203 | 205 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3MDM |
| Q9Y6A2 | 194 | 231 | 209 | 227 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3MDM |
| Q9Y6A2 | 194 | 231 | 230 | 232 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3MDM |
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SNVs in the skipped exons for CYP46A1 |
| - 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 | exon_skip_109854 | 100173905 | 100174015 | 100173910 | 100173910 | Frame_Shift_Del | T | - | p.A43fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_109854 | 100173905 | 100174015 | 100173942 | 100173942 | Frame_Shift_Del | C | - | p.A54fs |
| LUSC | TCGA-18-3421-01 | exon_skip_109846 | 100157418 | 100157498 | 100157448 | 100157448 | Nonsense_Mutation | G | A | p.W50* |
| HNSC | TCGA-CR-7370-01 | exon_skip_109846 | 100157418 | 100157498 | 100157458 | 100157458 | Nonsense_Mutation | G | T | p.E54* |
| HNSC | TCGA-BA-6869-01 | exon_skip_109851 | 100172984 | 100173122 | 100172989 | 100172989 | Nonsense_Mutation | T | A | p.L150* |
| BLCA | TCGA-FD-A5C1-01 | exon_skip_109856 | 100187576 | 100187660 | 100187618 | 100187618 | Nonsense_Mutation | C | A | p.Y188* |
| - 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 |
| HEC1A_ENDOMETRIUM | 100165803 | 100165876 | 100165849 | 100165849 | Missense_Mutation | G | A | p.R110H |
| HEC1_ENDOMETRIUM | 100165803 | 100165876 | 100165849 | 100165849 | Missense_Mutation | G | A | p.R110H |
| JHUEM2_ENDOMETRIUM | 100172984 | 100173122 | 100172995 | 100172995 | Missense_Mutation | G | A | p.S152N |
| NCIH2135_LUNG | 100172984 | 100173122 | 100173017 | 100173017 | Missense_Mutation | G | T | p.E159D |
| UW228_CENTRAL_NERVOUS_SYSTEM | 100172984 | 100173122 | 100173093 | 100173093 | Missense_Mutation | A | G | p.T185A |
| DU145_PROSTATE | 100172984 | 100173122 | 100173102 | 100173102 | Missense_Mutation | G | A | p.A188T |
| NCIH1734_LUNG | 100173905 | 100174015 | 100173922 | 100173922 | Missense_Mutation | G | C | p.E200D |
| CORL24_LUNG | 100173905 | 100174015 | 100173946 | 100173946 | Missense_Mutation | G | C | p.Q208H |
| MM127_SKIN | 100173905 | 100174015 | 100174011 | 100174011 | Missense_Mutation | C | A | p.A230E |
| VMRCLCD_LUNG | 100187576 | 100187660 | 100187605 | 100187605 | Missense_Mutation | G | C | p.G337A |
| HSC3_UPPER_AERODIGESTIVE_TRACT | 100187576 | 100187660 | 100187612 | 100187612 | Missense_Mutation | G | C | p.K339N |
| NCIH446_LUNG | 100191728 | 100191816 | 100191807 | 100191807 | Missense_Mutation | G | T | p.G419V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CYP46A1 |
| 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 CYP46A1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CYP46A1 |
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RelatedDrugs for CYP46A1 |
| 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 CYP46A1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CYP46A1 | C0002395 | Alzheimer's Disease | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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