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Fusion gene ID: 9144 |
FusionGeneSummary for CYP19A1_PHF21A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CYP19A1_PHF21A | Fusion gene ID: 9144 | Hgene | Tgene | Gene symbol | CYP19A1 | PHF21A | Gene ID | 1588 | 51317 |
| Gene name | cytochrome P450 family 19 subfamily A member 1 | PHD finger protein 21A | |
| Synonyms | ARO|ARO1|CPV1|CYAR|CYP19|CYPXIX|P-450AROM | BHC80|BM-006 | |
| Cytomap | 15q21.2 | 11p11.2 | |
| Type of gene | protein-coding | 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 | PHD finger protein 21ABHC80aBRAF35-HDAC complex protein BHC80BRAF35/HDAC2 complex (80 kDa) | |
| Modification date | 20180520 | 20180523 | |
| UniProtAcc | P11511 | Q96BD5 | |
| Ensembl transtripts involved in fusion gene | ENST00000396402, ENST00000260433, ENST00000396404, ENST00000559878, ENST00000405913, ENST00000557858, ENST00000492852, | ENST00000257821, ENST00000323180, ENST00000418153, ENST00000527753, | |
| Fusion gene scores | * DoF score | 12 X 13 X 1=156 | 7 X 7 X 4=196 |
| # samples | 13 | 9 | |
| ** MAII score | log2(13/156*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(9/196*10)=-1.12285674778553 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CYP19A1 [Title/Abstract] AND PHF21A [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | CYP19A1 | GO:0006710 | androgen catabolic process | 26482249 |
| Hgene | CYP19A1 | GO:2000866 | positive regulation of estradiol secretion | 26482249 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS3.1 | BF886753 | CYP19A1 | chr15 | 51588343 | + | PHF21A | chr11 | 46000083 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| intron-intron | ENST00000396402 | ENST00000257821 | CYP19A1 | chr15 | 51588343 | + | PHF21A | chr11 | 46000083 | + |
| intron-intron | ENST00000396402 | ENST00000323180 | CYP19A1 | chr15 | 51588343 | + | PHF21A | chr11 | 46000083 | + |
| intron-intron | ENST00000396402 | ENST00000418153 | CYP19A1 | chr15 | 51588343 | + | PHF21A | chr11 | 46000083 | + |
| intron-intron | ENST00000396402 | ENST00000527753 | CYP19A1 | chr15 | 51588343 | + | PHF21A | chr11 | 46000083 | + |
| intron-intron | ENST00000260433 | ENST00000257821 | CYP19A1 | chr15 | 51588343 | + | PHF21A | chr11 | 46000083 | + |
| intron-intron | ENST00000260433 | ENST00000323180 | CYP19A1 | chr15 | 51588343 | + | PHF21A | chr11 | 46000083 | + |
| intron-intron | ENST00000260433 | ENST00000418153 | CYP19A1 | chr15 | 51588343 | + | PHF21A | chr11 | 46000083 | + |
| intron-intron | ENST00000260433 | ENST00000527753 | CYP19A1 | chr15 | 51588343 | + | PHF21A | chr11 | 46000083 | + |
| intron-intron | ENST00000396404 | ENST00000257821 | CYP19A1 | chr15 | 51588343 | + | PHF21A | chr11 | 46000083 | + |
| intron-intron | ENST00000396404 | ENST00000323180 | CYP19A1 | chr15 | 51588343 | + | PHF21A | chr11 | 46000083 | + |
| intron-intron | ENST00000396404 | ENST00000418153 | CYP19A1 | chr15 | 51588343 | + | PHF21A | chr11 | 46000083 | + |
| intron-intron | ENST00000396404 | ENST00000527753 | CYP19A1 | chr15 | 51588343 | + | PHF21A | chr11 | 46000083 | + |
| intron-intron | ENST00000559878 | ENST00000257821 | CYP19A1 | chr15 | 51588343 | + | PHF21A | chr11 | 46000083 | + |
| intron-intron | ENST00000559878 | ENST00000323180 | CYP19A1 | chr15 | 51588343 | + | PHF21A | chr11 | 46000083 | + |
| intron-intron | ENST00000559878 | ENST00000418153 | CYP19A1 | chr15 | 51588343 | + | PHF21A | chr11 | 46000083 | + |
| intron-intron | ENST00000559878 | ENST00000527753 | CYP19A1 | chr15 | 51588343 | + | PHF21A | chr11 | 46000083 | + |
| intron-intron | ENST00000405913 | ENST00000257821 | CYP19A1 | chr15 | 51588343 | + | PHF21A | chr11 | 46000083 | + |
| intron-intron | ENST00000405913 | ENST00000323180 | CYP19A1 | chr15 | 51588343 | + | PHF21A | chr11 | 46000083 | + |
| intron-intron | ENST00000405913 | ENST00000418153 | CYP19A1 | chr15 | 51588343 | + | PHF21A | chr11 | 46000083 | + |
| intron-intron | ENST00000405913 | ENST00000527753 | CYP19A1 | chr15 | 51588343 | + | PHF21A | chr11 | 46000083 | + |
| intron-intron | ENST00000557858 | ENST00000257821 | CYP19A1 | chr15 | 51588343 | + | PHF21A | chr11 | 46000083 | + |
| intron-intron | ENST00000557858 | ENST00000323180 | CYP19A1 | chr15 | 51588343 | + | PHF21A | chr11 | 46000083 | + |
| intron-intron | ENST00000557858 | ENST00000418153 | CYP19A1 | chr15 | 51588343 | + | PHF21A | chr11 | 46000083 | + |
| intron-intron | ENST00000557858 | ENST00000527753 | CYP19A1 | chr15 | 51588343 | + | PHF21A | chr11 | 46000083 | + |
| intron-intron | ENST00000492852 | ENST00000257821 | CYP19A1 | chr15 | 51588343 | + | PHF21A | chr11 | 46000083 | + |
| intron-intron | ENST00000492852 | ENST00000323180 | CYP19A1 | chr15 | 51588343 | + | PHF21A | chr11 | 46000083 | + |
| intron-intron | ENST00000492852 | ENST00000418153 | CYP19A1 | chr15 | 51588343 | + | PHF21A | chr11 | 46000083 | + |
| intron-intron | ENST00000492852 | ENST00000527753 | CYP19A1 | chr15 | 51588343 | + | PHF21A | chr11 | 46000083 | + |
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FusionProtFeatures for CYP19A1_PHF21A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CYP19A1 | PHF21A |
| Catalyzes the formation of aromatic C18 estrogens fromC19 androgens. | Component of the BHC complex, a corepressor complex thatrepresses transcription of neuron-specific genes in non-neuronalcells. The BHC complex is recruited at RE1/NRSE sites by REST andacts by deacetylating and demethylating specific sites onhistones, thereby acting as a chromatin modifier. In the BHCcomplex, it may act as a scaffold. Inhibits KDM1A-mediateddemethylation of 'Lys-4' of histone H3 in vitro, suggesting a rolein demethylation regulation. {ECO:0000269|PubMed:16140033}. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * Minus value of BPloci means that the break pointn is located before the CDS. |
| - In-frame and retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for CYP19A1_PHF21A |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for CYP19A1_PHF21A |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for CYP19A1_PHF21A |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Hgene | CYP19A1 | P11511 | DB00184 | Nicotine | Aromatase | small molecule | approved |
| Hgene | CYP19A1 | P11511 | DB00655 | Estrone | Aromatase | small molecule | approved |
| Hgene | CYP19A1 | P11511 | DB00357 | Aminoglutethimide | Aromatase | small molecule | approved|investigational |
| Hgene | CYP19A1 | P11511 | DB00990 | Exemestane | Aromatase | small molecule | approved|investigational |
| Hgene | CYP19A1 | P11511 | DB01006 | Letrozole | Aromatase | small molecule | approved|investigational |
| Hgene | CYP19A1 | P11511 | DB01026 | Ketoconazole | Aromatase | small molecule | approved|investigational |
| Hgene | CYP19A1 | P11511 | DB01217 | Anastrozole | Aromatase | small molecule | approved|investigational |
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RelatedDiseases for CYP19A1_PHF21A |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CYP19A1 | C1960539 | Aromatase deficiency | 6 | CTD_human;ORPHANET;UNIPROT |
| Hgene | CYP19A1 | C0032460 | Polycystic Ovary Syndrome | 4 | CTD_human |
| Hgene | CYP19A1 | C1458155 | Mammary Neoplasms | 3 | CTD_human |
| Hgene | CYP19A1 | C0014175 | Endometriosis | 2 | CTD_human |
| Hgene | CYP19A1 | C0033578 | Prostatic Neoplasms | 2 | CTD_human |
| Hgene | CYP19A1 | C0001418 | Adenocarcinoma | 1 | CTD_human |
| Hgene | CYP19A1 | C0002453 | Amenorrhea | 1 | CTD_human |
| Hgene | CYP19A1 | C0004352 | Autistic Disorder | 1 | CTD_human |
| Hgene | CYP19A1 | C0005974 | Bone Resorption | 1 | CTD_human |
| Hgene | CYP19A1 | C0014859 | Esophageal Neoplasms | 1 | CTD_human |
| Hgene | CYP19A1 | C0015695 | Fatty Liver | 1 | CTD_human |
| Hgene | CYP19A1 | C0016059 | Fibrosis | 1 | CTD_human |
| Hgene | CYP19A1 | C0020619 | Hypogonadism | 1 | CTD_human |
| Hgene | CYP19A1 | C0020635 | Hypopituitarism | 1 | CTD_human |
| Hgene | CYP19A1 | C0021361 | Female infertility | 1 | CTD_human;HPO |
| Hgene | CYP19A1 | C0029456 | Osteoporosis | 1 | CTD_human;HPO |
| Hgene | CYP19A1 | C0029928 | Ovarian Diseases | 1 | CTD_human |
| Hgene | CYP19A1 | C0085207 | Gestational Diabetes | 1 | CTD_human |
| Hgene | CYP19A1 | C0086132 | Depressive Symptoms | 1 | PSYGENET |
| Hgene | CYP19A1 | C0236663 | Alcohol withdrawal syndrome | 1 | PSYGENET |
| Hgene | CYP19A1 | C0242341 | Sexual Infantilism | 1 | CTD_human |
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