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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: 9137

FusionGeneSummary for CYP19A1_CPM

check button Fusion gene summary
Fusion gene informationFusion gene name: CYP19A1_CPM
Fusion gene ID: 9137
HgeneTgene
Gene symbol

CYP19A1

CPM

Gene ID

1588

1368

Gene namecytochrome P450 family 19 subfamily A member 1carboxypeptidase M
SynonymsARO|ARO1|CPV1|CYAR|CYP19|CYPXIX|P-450AROM-
Cytomap

15q21.2

12q15

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 monoocarboxypeptidase Mrenal carboxypeptidaseurinary carboxypeptidase B
Modification date2018052020180523
UniProtAcc

P11511

P14384

Ensembl transtripts involved in fusion geneENST00000396402, ENST00000260433, 
ENST00000396404, ENST00000559878, 
ENST00000405913, ENST00000557858, 
ENST00000492852, 
ENST00000546373, 
ENST00000551568, ENST00000338356, 
ENST00000549691, 
Fusion gene scores* DoF score12 X 13 X 1=15638 X 10 X 8=3040
# samples 1335
** MAII scorelog2(13/156*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(35/3040*10)=-3.11864449649862
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CYP19A1 [Title/Abstract] AND CPM [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
ChiTaRS3.1BQ367522CYP19A1chr15

51502951

-CPMchr12

69246286

-
* 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-intronENST00000396402ENST00000546373CYP19A1chr15

51502951

-CPMchr12

69246286

-
intron-3UTRENST00000396402ENST00000551568CYP19A1chr15

51502951

-CPMchr12

69246286

-
intron-3UTRENST00000396402ENST00000338356CYP19A1chr15

51502951

-CPMchr12

69246286

-
intron-intronENST00000396402ENST00000549691CYP19A1chr15

51502951

-CPMchr12

69246286

-
intron-intronENST00000260433ENST00000546373CYP19A1chr15

51502951

-CPMchr12

69246286

-
intron-3UTRENST00000260433ENST00000551568CYP19A1chr15

51502951

-CPMchr12

69246286

-
intron-3UTRENST00000260433ENST00000338356CYP19A1chr15

51502951

-CPMchr12

69246286

-
intron-intronENST00000260433ENST00000549691CYP19A1chr15

51502951

-CPMchr12

69246286

-
intron-intronENST00000396404ENST00000546373CYP19A1chr15

51502951

-CPMchr12

69246286

-
intron-3UTRENST00000396404ENST00000551568CYP19A1chr15

51502951

-CPMchr12

69246286

-
intron-3UTRENST00000396404ENST00000338356CYP19A1chr15

51502951

-CPMchr12

69246286

-
intron-intronENST00000396404ENST00000549691CYP19A1chr15

51502951

-CPMchr12

69246286

-
intron-intronENST00000559878ENST00000546373CYP19A1chr15

51502951

-CPMchr12

69246286

-
intron-3UTRENST00000559878ENST00000551568CYP19A1chr15

51502951

-CPMchr12

69246286

-
intron-3UTRENST00000559878ENST00000338356CYP19A1chr15

51502951

-CPMchr12

69246286

-
intron-intronENST00000559878ENST00000549691CYP19A1chr15

51502951

-CPMchr12

69246286

-
intron-intronENST00000405913ENST00000546373CYP19A1chr15

51502951

-CPMchr12

69246286

-
intron-3UTRENST00000405913ENST00000551568CYP19A1chr15

51502951

-CPMchr12

69246286

-
intron-3UTRENST00000405913ENST00000338356CYP19A1chr15

51502951

-CPMchr12

69246286

-
intron-intronENST00000405913ENST00000549691CYP19A1chr15

51502951

-CPMchr12

69246286

-
intron-intronENST00000557858ENST00000546373CYP19A1chr15

51502951

-CPMchr12

69246286

-
intron-3UTRENST00000557858ENST00000551568CYP19A1chr15

51502951

-CPMchr12

69246286

-
intron-3UTRENST00000557858ENST00000338356CYP19A1chr15

51502951

-CPMchr12

69246286

-
intron-intronENST00000557858ENST00000549691CYP19A1chr15

51502951

-CPMchr12

69246286

-
intron-intronENST00000492852ENST00000546373CYP19A1chr15

51502951

-CPMchr12

69246286

-
intron-3UTRENST00000492852ENST00000551568CYP19A1chr15

51502951

-CPMchr12

69246286

-
intron-3UTRENST00000492852ENST00000338356CYP19A1chr15

51502951

-CPMchr12

69246286

-
intron-intronENST00000492852ENST00000549691CYP19A1chr15

51502951

-CPMchr12

69246286

-

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FusionProtFeatures for CYP19A1_CPM


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

P11511

CPM

P14384

Catalyzes the formation of aromatic C18 estrogens fromC19 androgens. Specifically removes C-terminal basic residues (Arg orLys) from peptides and proteins. It is believed to play importantroles in the control of peptide hormone and growth factor activityat the cell surface, and in the membrane-localized degradation ofextracellular proteins. {ECO:0000269|PubMed:12457462}.

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_CPM


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_CPM


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_CPM


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_CPM


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
TgeneCPMC0014175Endometriosis1CTD_human
TgeneCPMC0037116Silicosis1CTD_human