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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for CYP19A1 |
 Gene summary |
| Gene information | Gene symbol | CYP19A1 | Gene ID | 1588 |
| Gene name | cytochrome P450 family 19 subfamily A member 1 | |
| Synonyms | ARO|ARO1|CPV1|CYAR|CYP19|CYPXIX|P-450AROM | |
| Cytomap | 15q21.2 | |
| Type of gene | protein-coding | |
| Description | aromatasecytochrome P-450AROMcytochrome P450 19A1cytochrome P450, family 19, subfamily A, polypeptide 1cytochrome P450, subfamily XIX (aromatization of androgens)estrogen synthaseestrogen synthetaseflavoprotein-linked monooxygenasemicrosomal monoo | |
| Modification date | 20200313 | |
| UniProtAcc | A0A024R5S8, | |
| Context | - 26169917(Cholestenoic acid, an endogenous cholesterol metabolite, is a potent gamma-secretase modulator) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| CYP19A1 | GO:0006710 | androgen catabolic process | 26482249 |
| CYP19A1 | GO:2000866 | positive regulation of estradiol secretion | 26482249 |
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Gene structures and expression levels for CYP19A1 |
| Skipped exons in the ROSMAP, MSBB, and Mayo 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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ENSG00000137869
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| STG | UP | 9.101336e+00 | 1.093490e+00 | 9.817984e-04 | 1.923421e-02 |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for CYP19A1 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_227645 | chr15 | 51218558:51218655:51222349:51222525:51227779:51227933 | 51222349:51222525 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for CYP19A1 |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000396402 | 51222349 | 51222525 | In-frame |
| ENST00000396404 | 51222349 | 51222525 | In-frame |
| ENST00000559878 | 51222349 | 51222525 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
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Infer the effects of exon skipping event on protein functional features for CYP19A1 |
p-ENSG00000137869_img4.png |
| Loci of skipped exons in ROSMAP 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 MSBB 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 |
| ENST00000396402 | 4434 | 503 | 51222349 | 51222525 | 606 | 781 | 150 | 209 |
| ENST00000396404 | 2405 | 503 | 51222349 | 51222525 | 701 | 876 | 150 | 209 |
| ENST00000559878 | 1975 | 503 | 51222349 | 51222525 | 604 | 779 | 150 | 209 |
| Loci of skipped exons in Mayo 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 ROSMAP. |
| 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 MSBB. |
| 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 |
| P11511 | 150 | 209 | 183 | 185 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5JKW |
| P11511 | 150 | 209 | 183 | 185 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5JKW |
| P11511 | 150 | 209 | 183 | 185 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5JKW |
| P11511 | 150 | 209 | 1 | 503 | Chain | ID=PRO_0000051955;Note=Aromatase |
| P11511 | 150 | 209 | 1 | 503 | Chain | ID=PRO_0000051955;Note=Aromatase |
| P11511 | 150 | 209 | 1 | 503 | Chain | ID=PRO_0000051955;Note=Aromatase |
| P11511 | 150 | 209 | 138 | 151 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3S79 |
| P11511 | 150 | 209 | 138 | 151 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3S79 |
| P11511 | 150 | 209 | 138 | 151 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3S79 |
| P11511 | 150 | 209 | 155 | 172 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3S79 |
| P11511 | 150 | 209 | 155 | 172 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3S79 |
| P11511 | 150 | 209 | 155 | 172 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3S79 |
| P11511 | 150 | 209 | 173 | 177 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3S79 |
| P11511 | 150 | 209 | 173 | 177 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3S79 |
| P11511 | 150 | 209 | 173 | 177 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3S79 |
| P11511 | 150 | 209 | 187 | 203 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3S79 |
| P11511 | 150 | 209 | 187 | 203 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3S79 |
| P11511 | 150 | 209 | 187 | 203 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3S79 |
| P11511 | 150 | 209 | 192 | 192 | Natural variant | ID=VAR_072784;Note=In AROD%3B strongly reduced aromatase activity%3B 81%25 reduction of androstenedione metabolism compared to wild-type. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24705274;Dbxref=dbSNP:rs765057534,PMID:24705274 |
| P11511 | 150 | 209 | 192 | 192 | Natural variant | ID=VAR_072784;Note=In AROD%3B strongly reduced aromatase activity%3B 81%25 reduction of androstenedione metabolism compared to wild-type. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24705274;Dbxref=dbSNP:rs765057534,PMID:24705274 |
| P11511 | 150 | 209 | 192 | 192 | Natural variant | ID=VAR_072784;Note=In AROD%3B strongly reduced aromatase activity%3B 81%25 reduction of androstenedione metabolism compared to wild-type. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24705274;Dbxref=dbSNP:rs765057534,PMID:24705274 |
| P11511 | 150 | 209 | 201 | 201 | Natural variant | ID=VAR_023429;Note=T->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15489334,ECO:0000269|Ref.8;Dbxref=dbSNP:rs28757184,PMID:15489334 |
| P11511 | 150 | 209 | 201 | 201 | Natural variant | ID=VAR_023429;Note=T->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15489334,ECO:0000269|Ref.8;Dbxref=dbSNP:rs28757184,PMID:15489334 |
| P11511 | 150 | 209 | 201 | 201 | Natural variant | ID=VAR_023429;Note=T->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15489334,ECO:0000269|Ref.8;Dbxref=dbSNP:rs28757184,PMID:15489334 |
| Lost protein functional features of individual exon skipping events in Mayo. |
| 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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3'-UTR located exon skipping events that lost miRNA binding sites in CYP19A1 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for CYP19A1 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - 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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AD stage-associated exon skippint events for CYP19A1 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CYP19A1 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for CYP19A1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for CYP19A1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P11511 | approved | DB00184 | Nicotine | small molecule | P11511 |
| P11511 | approved|investigational | DB00357 | Aminoglutethimide | small molecule | P11511 |
| P11511 | approved | DB00655 | Estrone | small molecule | P11511 |
| P11511 | approved|investigational | DB00990 | Exemestane | small molecule | P11511 |
| P11511 | approved|investigational | DB01006 | Letrozole | small molecule | P11511 |
| P11511 | approved|investigational | DB01026 | Ketoconazole | small molecule | P11511 |
| P11511 | approved|investigational | DB01217 | Anastrozole | small molecule | P11511 |
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RelatedDiseases for CYP19A1 |
| 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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