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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 9139

FusionGeneSummary for CYP19A1_CYFIP1

check button Fusion gene summary
Fusion gene informationFusion gene name: CYP19A1_CYFIP1
Fusion gene ID: 9139
HgeneTgene
Gene symbol

CYP19A1

CYFIP1

Gene ID

1588

23191

Gene namecytochrome P450 family 19 subfamily A member 1cytoplasmic FMR1 interacting protein 1
SynonymsARO|ARO1|CPV1|CYAR|CYP19|CYPXIX|P-450AROMP140SRA-1|SHYC|SRA-1|SRA1
Cytomap

15q21.2

15q11.2

Type of geneprotein-codingprotein-coding
Descriptionaromatasecytochrome P-450AROMcytochrome P450 19A1cytochrome P450, family 19, subfamily A, polypeptide 1cytochrome P450, subfamily XIX (aromatization of androgens)estrogen synthaseestrogen synthetaseflavoprotein-linked monooxygenasemicrosomal monoocytoplasmic FMR1-interacting protein 1cytoplasmic FMRP interacting protein 1selective hybridizing clonespecifically Rac1-associated protein 1
Modification date2018052020180523
UniProtAcc

P11511

Q7L576

Ensembl transtripts involved in fusion geneENST00000396402, ENST00000260433, 
ENST00000396404, ENST00000559878, 
ENST00000405913, ENST00000557858, 
ENST00000492852, 
ENST00000313077, 
ENST00000560848, ENST00000435939, 
Fusion gene scores* DoF score12 X 13 X 1=1565 X 5 X 4=100
# samples 135
** MAII scorelog2(13/156*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CYP19A1 [Title/Abstract] AND CYFIP1 [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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneCYP19A1

GO:0006710

androgen catabolic process

26482249

HgeneCYP19A1

GO:2000866

positive regulation of estradiol secretion

26482249


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1BF988608CYP19A1chr15

51514415

+CYFIP1chr15

22976553

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-intronENST00000396402ENST00000313077CYP19A1chr15

51514415

+CYFIP1chr15

22976553

+
intron-intronENST00000396402ENST00000560848CYP19A1chr15

51514415

+CYFIP1chr15

22976553

+
intron-intronENST00000396402ENST00000435939CYP19A1chr15

51514415

+CYFIP1chr15

22976553

+
intron-intronENST00000260433ENST00000313077CYP19A1chr15

51514415

+CYFIP1chr15

22976553

+
intron-intronENST00000260433ENST00000560848CYP19A1chr15

51514415

+CYFIP1chr15

22976553

+
intron-intronENST00000260433ENST00000435939CYP19A1chr15

51514415

+CYFIP1chr15

22976553

+
intron-intronENST00000396404ENST00000313077CYP19A1chr15

51514415

+CYFIP1chr15

22976553

+
intron-intronENST00000396404ENST00000560848CYP19A1chr15

51514415

+CYFIP1chr15

22976553

+
intron-intronENST00000396404ENST00000435939CYP19A1chr15

51514415

+CYFIP1chr15

22976553

+
intron-intronENST00000559878ENST00000313077CYP19A1chr15

51514415

+CYFIP1chr15

22976553

+
intron-intronENST00000559878ENST00000560848CYP19A1chr15

51514415

+CYFIP1chr15

22976553

+
intron-intronENST00000559878ENST00000435939CYP19A1chr15

51514415

+CYFIP1chr15

22976553

+
intron-intronENST00000405913ENST00000313077CYP19A1chr15

51514415

+CYFIP1chr15

22976553

+
intron-intronENST00000405913ENST00000560848CYP19A1chr15

51514415

+CYFIP1chr15

22976553

+
intron-intronENST00000405913ENST00000435939CYP19A1chr15

51514415

+CYFIP1chr15

22976553

+
intron-intronENST00000557858ENST00000313077CYP19A1chr15

51514415

+CYFIP1chr15

22976553

+
intron-intronENST00000557858ENST00000560848CYP19A1chr15

51514415

+CYFIP1chr15

22976553

+
intron-intronENST00000557858ENST00000435939CYP19A1chr15

51514415

+CYFIP1chr15

22976553

+
intron-intronENST00000492852ENST00000313077CYP19A1chr15

51514415

+CYFIP1chr15

22976553

+
intron-intronENST00000492852ENST00000560848CYP19A1chr15

51514415

+CYFIP1chr15

22976553

+
intron-intronENST00000492852ENST00000435939CYP19A1chr15

51514415

+CYFIP1chr15

22976553

+

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FusionProtFeatures for CYP19A1_CYFIP1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CYP19A1

P11511

CYFIP1

Q7L576

Catalyzes the formation of aromatic C18 estrogens fromC19 androgens. Component of the CYFIP1-EIF4E-FMR1 complex which bindsto the mRNA cap and mediates translational repression. In theCYFIP1-EIF4E-FMR1 complex this subunit is an adapter between EIF4Eand FMR1. Promotes the translation repression activity of FMR1 inbrain probably by mediating its association with EIF4E and mRNA(By similarity). Regulates formation of membrane ruffles andlamellipodia. Plays a role in axon outgrowth. Binds to F-actin butnot to RNA. Part of the WAVE complex that regulates actin filamentreorganization via its interaction with the Arp2/3 complex. Actinremodeling activity is regulated by RAC1. Regulator of epithelialmorphogenesis. As component of the WAVE1 complex, required forBDNF-NTRK2 endocytic trafficking and signaling from earlyendosomes (By similarity). May act as an invasion suppressor incancers. {ECO:0000250|UniProtKB:Q7TMB8,ECO:0000269|PubMed:16260607, ECO:0000269|PubMed:19524508,ECO:0000269|PubMed:21107423, ECO:0000269|PubMed:9417078}.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for CYP19A1_CYFIP1


check button 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_CYFIP1


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for CYP19A1_CYFIP1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneCYP19A1P11511DB00184NicotineAromatasesmall moleculeapproved
HgeneCYP19A1P11511DB00655EstroneAromatasesmall moleculeapproved
HgeneCYP19A1P11511DB00357AminoglutethimideAromatasesmall moleculeapproved|investigational
HgeneCYP19A1P11511DB00990ExemestaneAromatasesmall moleculeapproved|investigational
HgeneCYP19A1P11511DB01006LetrozoleAromatasesmall moleculeapproved|investigational
HgeneCYP19A1P11511DB01026KetoconazoleAromatasesmall moleculeapproved|investigational
HgeneCYP19A1P11511DB01217AnastrozoleAromatasesmall moleculeapproved|investigational

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RelatedDiseases for CYP19A1_CYFIP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCYP19A1C1960539Aromatase deficiency6CTD_human;ORPHANET;UNIPROT
HgeneCYP19A1C0032460Polycystic Ovary Syndrome4CTD_human
HgeneCYP19A1C1458155Mammary Neoplasms3CTD_human
HgeneCYP19A1C0014175Endometriosis2CTD_human
HgeneCYP19A1C0033578Prostatic Neoplasms2CTD_human
HgeneCYP19A1C0001418Adenocarcinoma1CTD_human
HgeneCYP19A1C0002453Amenorrhea1CTD_human
HgeneCYP19A1C0004352Autistic Disorder1CTD_human
HgeneCYP19A1C0005974Bone Resorption1CTD_human
HgeneCYP19A1C0014859Esophageal Neoplasms1CTD_human
HgeneCYP19A1C0015695Fatty Liver1CTD_human
HgeneCYP19A1C0016059Fibrosis1CTD_human
HgeneCYP19A1C0020619Hypogonadism1CTD_human
HgeneCYP19A1C0020635Hypopituitarism1CTD_human
HgeneCYP19A1C0021361Female infertility1CTD_human;HPO
HgeneCYP19A1C0029456Osteoporosis1CTD_human;HPO
HgeneCYP19A1C0029928Ovarian Diseases1CTD_human
HgeneCYP19A1C0085207Gestational Diabetes1CTD_human
HgeneCYP19A1C0086132Depressive Symptoms1PSYGENET
HgeneCYP19A1C0236663Alcohol withdrawal syndrome1PSYGENET
HgeneCYP19A1C0242341Sexual Infantilism1CTD_human
TgeneCYFIP1C0036341Schizophrenia1PSYGENET