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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: 32790

FusionGeneSummary for SCARB2_CYP19A1

check button Fusion gene summary
Fusion gene informationFusion gene name: SCARB2_CYP19A1
Fusion gene ID: 32790
HgeneTgene
Gene symbol

SCARB2

CYP19A1

Gene ID

950

1588

Gene namescavenger receptor class B member 2cytochrome P450 family 19 subfamily A member 1
SynonymsAMRF|CD36L2|EPM4|HLGP85|LGP85|LIMP-2|LIMPII|SR-BIIARO|ARO1|CPV1|CYAR|CYP19|CYPXIX|P-450AROM
Cytomap

4q21.1

15q21.2

Type of geneprotein-codingprotein-coding
Descriptionlysosome membrane protein 285 kDa lysosomal membrane sialoglycoprotein85 kDa lysosomal sialoglycoprotein scavenger receptor class B, member 2CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein IIaromatasecytochrome P-450AROMcytochrome P450 19A1cytochrome P450, family 19, subfamily A, polypeptide 1cytochrome P450, subfamily XIX (aromatization of androgens)estrogen synthaseestrogen synthetaseflavoprotein-linked monooxygenasemicrosomal monoo
Modification date2018051920180520
UniProtAcc

Q14108

P11511

Ensembl transtripts involved in fusion geneENST00000264896, ENST00000452464, 
ENST00000396402, ENST00000260433, 
ENST00000396404, ENST00000559878, 
ENST00000405913, ENST00000557858, 
ENST00000492852, 
Fusion gene scores* DoF score11 X 9 X 5=4959 X 9 X 3=243
# samples 1111
** MAII scorelog2(11/495*10)=-2.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(11/243*10)=-1.14345279008112
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SCARB2 [Title/Abstract] AND CYP19A1 [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
TgeneCYP19A1

GO:0006710

androgen catabolic process

26482249

TgeneCYP19A1

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
ChiTaRS3.1BF989796SCARB2chr4

77082719

-CYP19A1chr15

51535047

-
* 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-3CDSENST00000264896ENST00000396402SCARB2chr4

77082719

-CYP19A1chr15

51535047

-
intron-3CDSENST00000264896ENST00000260433SCARB2chr4

77082719

-CYP19A1chr15

51535047

-
intron-3CDSENST00000264896ENST00000396404SCARB2chr4

77082719

-CYP19A1chr15

51535047

-
intron-3CDSENST00000264896ENST00000559878SCARB2chr4

77082719

-CYP19A1chr15

51535047

-
intron-3CDSENST00000264896ENST00000405913SCARB2chr4

77082719

-CYP19A1chr15

51535047

-
intron-3CDSENST00000264896ENST00000557858SCARB2chr4

77082719

-CYP19A1chr15

51535047

-
intron-intronENST00000264896ENST00000492852SCARB2chr4

77082719

-CYP19A1chr15

51535047

-
intron-3CDSENST00000452464ENST00000396402SCARB2chr4

77082719

-CYP19A1chr15

51535047

-
intron-3CDSENST00000452464ENST00000260433SCARB2chr4

77082719

-CYP19A1chr15

51535047

-
intron-3CDSENST00000452464ENST00000396404SCARB2chr4

77082719

-CYP19A1chr15

51535047

-
intron-3CDSENST00000452464ENST00000559878SCARB2chr4

77082719

-CYP19A1chr15

51535047

-
intron-3CDSENST00000452464ENST00000405913SCARB2chr4

77082719

-CYP19A1chr15

51535047

-
intron-3CDSENST00000452464ENST00000557858SCARB2chr4

77082719

-CYP19A1chr15

51535047

-
intron-intronENST00000452464ENST00000492852SCARB2chr4

77082719

-CYP19A1chr15

51535047

-

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FusionProtFeatures for SCARB2_CYP19A1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SCARB2

Q14108

CYP19A1

P11511

Acts as a lysosomal receptor for glucosylceramidase(GBA) targeting. {ECO:0000269|PubMed:18022370}. (Microbial infection) Acts as a receptor for enterovirus71. {ECO:0000269|PubMed:19543282}. Catalyzes the formation of aromatic C18 estrogens fromC19 androgens.

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 SCARB2_CYP19A1


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 SCARB2_CYP19A1


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 SCARB2_CYP19A1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCYP19A1P11511DB00184NicotineAromatasesmall moleculeapproved
TgeneCYP19A1P11511DB00655EstroneAromatasesmall moleculeapproved
TgeneCYP19A1P11511DB00357AminoglutethimideAromatasesmall moleculeapproved|investigational
TgeneCYP19A1P11511DB00990ExemestaneAromatasesmall moleculeapproved|investigational
TgeneCYP19A1P11511DB01006LetrozoleAromatasesmall moleculeapproved|investigational
TgeneCYP19A1P11511DB01026KetoconazoleAromatasesmall moleculeapproved|investigational
TgeneCYP19A1P11511DB01217AnastrozoleAromatasesmall moleculeapproved|investigational

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RelatedDiseases for SCARB2_CYP19A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSCARB2C0751779Action Myoclonus-Renal Failure Syndrome1CTD_human;ORPHANET;UNIPROT
TgeneCYP19A1C1960539Aromatase deficiency6CTD_human;ORPHANET;UNIPROT
TgeneCYP19A1C0032460Polycystic Ovary Syndrome4CTD_human
TgeneCYP19A1C1458155Mammary Neoplasms3CTD_human
TgeneCYP19A1C0014175Endometriosis2CTD_human
TgeneCYP19A1C0033578Prostatic Neoplasms2CTD_human
TgeneCYP19A1C0001418Adenocarcinoma1CTD_human
TgeneCYP19A1C0002453Amenorrhea1CTD_human
TgeneCYP19A1C0004352Autistic Disorder1CTD_human
TgeneCYP19A1C0005974Bone Resorption1CTD_human
TgeneCYP19A1C0014859Esophageal Neoplasms1CTD_human
TgeneCYP19A1C0015695Fatty Liver1CTD_human
TgeneCYP19A1C0016059Fibrosis1CTD_human
TgeneCYP19A1C0020619Hypogonadism1CTD_human
TgeneCYP19A1C0020635Hypopituitarism1CTD_human
TgeneCYP19A1C0021361Female infertility1CTD_human;HPO
TgeneCYP19A1C0029456Osteoporosis1CTD_human;HPO
TgeneCYP19A1C0029928Ovarian Diseases1CTD_human
TgeneCYP19A1C0085207Gestational Diabetes1CTD_human
TgeneCYP19A1C0086132Depressive Symptoms1PSYGENET
TgeneCYP19A1C0236663Alcohol withdrawal syndrome1PSYGENET
TgeneCYP19A1C0242341Sexual Infantilism1CTD_human