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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:PLEKHA6-CYP19A1 (FusionGDB2 ID:65789)

Fusion Gene Summary for PLEKHA6-CYP19A1

check button Fusion gene summary
Fusion gene informationFusion gene name: PLEKHA6-CYP19A1
Fusion gene ID: 65789
HgeneTgene
Gene symbol

PLEKHA6

CYP19A1

Gene ID

22874

1588

Gene namepleckstrin homology domain containing A6cytochrome P450 family 19 subfamily A member 1
SynonymsPEPP-3|PEPP3ARO|ARO1|CPV1|CYAR|CYP19|CYPXIX|P-450AROM
Cytomap

1q32.1

15q21.2

Type of geneprotein-codingprotein-coding
Descriptionpleckstrin homology domain-containing family A member 6PH domain-containing family A member 6phosphoinositol 3-phosphate-binding protein 3aromatasecytochrome P-450AROMcytochrome P450 19A1cytochrome P450, family 19, subfamily A, polypeptide 1cytochrome P450, subfamily XIX (aromatization of androgens)estrogen synthaseestrogen synthetaseflavoprotein-linked monooxygenasemicrosomal monoo
Modification date2020031320200313
UniProtAcc.

P11511

Ensembl transtripts involved in fusion geneENST00000272203, ENST00000414478, 
ENST00000485632, 		ENST00000396402, 
ENST00000260433, ENST00000396404, 
ENST00000559878, ENST00000405913, 
ENST00000557858, ENST00000492852, 
Fusion gene scores* DoF score15 X 17 X 8=20409 X 7 X 5=315
# samples 1910
** MAII scorelog2(19/2040*10)=-3.42449782852791
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(10/315*10)=-1.65535182861255
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PLEKHA6 [Title/Abstract] AND CYP19A1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPLEKHA6(204240881)-CYP19A1(51504694), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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 buttonFusion gene breakpoints across PLEKHA6 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across CYP19A1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS5.0N/ABI053792PLEKHA6chr1

204240881

+CYP19A1chr15

51504694

-


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Fusion Gene ORF analysis for PLEKHA6-CYP19A1

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-3CDSENST00000272203ENST00000396402PLEKHA6chr1

204240881

+CYP19A1chr15

51504694

-
intron-3CDSENST00000272203ENST00000260433PLEKHA6chr1

204240881

+CYP19A1chr15

51504694

-
intron-3CDSENST00000272203ENST00000396404PLEKHA6chr1

204240881

+CYP19A1chr15

51504694

-
intron-3CDSENST00000272203ENST00000559878PLEKHA6chr1

204240881

+CYP19A1chr15

51504694

-
intron-intronENST00000272203ENST00000405913PLEKHA6chr1

204240881

+CYP19A1chr15

51504694

-
intron-intronENST00000272203ENST00000557858PLEKHA6chr1

204240881

+CYP19A1chr15

51504694

-
intron-intronENST00000272203ENST00000492852PLEKHA6chr1

204240881

+CYP19A1chr15

51504694

-
intron-3CDSENST00000414478ENST00000396402PLEKHA6chr1

204240881

+CYP19A1chr15

51504694

-
intron-3CDSENST00000414478ENST00000260433PLEKHA6chr1

204240881

+CYP19A1chr15

51504694

-
intron-3CDSENST00000414478ENST00000396404PLEKHA6chr1

204240881

+CYP19A1chr15

51504694

-
intron-3CDSENST00000414478ENST00000559878PLEKHA6chr1

204240881

+CYP19A1chr15

51504694

-
intron-intronENST00000414478ENST00000405913PLEKHA6chr1

204240881

+CYP19A1chr15

51504694

-
intron-intronENST00000414478ENST00000557858PLEKHA6chr1

204240881

+CYP19A1chr15

51504694

-
intron-intronENST00000414478ENST00000492852PLEKHA6chr1

204240881

+CYP19A1chr15

51504694

-
intron-3CDSENST00000485632ENST00000396402PLEKHA6chr1

204240881

+CYP19A1chr15

51504694

-
intron-3CDSENST00000485632ENST00000260433PLEKHA6chr1

204240881

+CYP19A1chr15

51504694

-
intron-3CDSENST00000485632ENST00000396404PLEKHA6chr1

204240881

+CYP19A1chr15

51504694

-
intron-3CDSENST00000485632ENST00000559878PLEKHA6chr1

204240881

+CYP19A1chr15

51504694

-
intron-intronENST00000485632ENST00000405913PLEKHA6chr1

204240881

+CYP19A1chr15

51504694

-
intron-intronENST00000485632ENST00000557858PLEKHA6chr1

204240881

+CYP19A1chr15

51504694

-
intron-intronENST00000485632ENST00000492852PLEKHA6chr1

204240881

+CYP19A1chr15

51504694

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for PLEKHA6-CYP19A1


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for PLEKHA6-CYP19A1


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

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

P11511

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: A cytochrome P450 monooxygenase that catalyzes the conversion of C19 androgens, androst-4-ene-3,17-dione (androstenedione) and testosterone to the C18 estrogens, estrone and estradiol, respectively (PubMed:27702664, PubMed:2848247). Catalyzes three successive oxidations of C19 androgens: two conventional oxidations at C19 yielding 19-hydroxy and 19-oxo/19-aldehyde derivatives, followed by a third oxidative aromatization step that involves C1-beta hydrogen abstraction combined with cleavage of the C10-C19 bond to yield a phenolic A ring and formic acid (PubMed:20385561). Alternatively, the third oxidative reaction yields a 19-norsteroid and formic acid. Converts dihydrotestosterone to delta1,10-dehydro 19-nordihydrotestosterone and may play a role in homeostasis of this potent androgen (PubMed:22773874). Also displays 2-hydroxylase activity toward estrone (PubMed:22773874). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:20385561, PubMed:22773874). {ECO:0000269|PubMed:20385561, ECO:0000269|PubMed:22773874, ECO:0000269|PubMed:27702664, ECO:0000269|PubMed:2848247}.

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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Fusion Gene Sequence for PLEKHA6-CYP19A1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for PLEKHA6-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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Related Drugs for PLEKHA6-CYP19A1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCYP19A1P11511DB00184NicotineInhibitorSmall moleculeApproved
TgeneCYP19A1P11511DB00184NicotineInhibitorSmall moleculeApproved
TgeneCYP19A1P11511DB00184NicotineInhibitorSmall moleculeApproved
TgeneCYP19A1P11511DB00184NicotineInhibitorSmall moleculeApproved
TgeneCYP19A1P11511DB00655EstroneSmall moleculeApproved
TgeneCYP19A1P11511DB00655EstroneSmall moleculeApproved
TgeneCYP19A1P11511DB00655EstroneSmall moleculeApproved
TgeneCYP19A1P11511DB00655EstroneSmall moleculeApproved
TgeneCYP19A1P11511DB00357AminoglutethimideInhibitorSmall moleculeApproved|Investigational
TgeneCYP19A1P11511DB00357AminoglutethimideInhibitorSmall moleculeApproved|Investigational
TgeneCYP19A1P11511DB00357AminoglutethimideInhibitorSmall moleculeApproved|Investigational
TgeneCYP19A1P11511DB00357AminoglutethimideInhibitorSmall moleculeApproved|Investigational
TgeneCYP19A1P11511DB00894TestolactoneInhibitorSmall moleculeApproved|Investigational
TgeneCYP19A1P11511DB00894TestolactoneInhibitorSmall moleculeApproved|Investigational
TgeneCYP19A1P11511DB00894TestolactoneInhibitorSmall moleculeApproved|Investigational
TgeneCYP19A1P11511DB00894TestolactoneInhibitorSmall moleculeApproved|Investigational
TgeneCYP19A1P11511DB00990ExemestaneInhibitorSmall moleculeApproved|Investigational
TgeneCYP19A1P11511DB00990ExemestaneInhibitorSmall moleculeApproved|Investigational
TgeneCYP19A1P11511DB00990ExemestaneInhibitorSmall moleculeApproved|Investigational
TgeneCYP19A1P11511DB00990ExemestaneInhibitorSmall moleculeApproved|Investigational
TgeneCYP19A1P11511DB01006LetrozoleAntagonistSmall moleculeApproved|Investigational
TgeneCYP19A1P11511DB01006LetrozoleAntagonistSmall moleculeApproved|Investigational
TgeneCYP19A1P11511DB01006LetrozoleAntagonistSmall moleculeApproved|Investigational
TgeneCYP19A1P11511DB01006LetrozoleAntagonistSmall moleculeApproved|Investigational
TgeneCYP19A1P11511DB01217AnastrozoleInhibitorSmall moleculeApproved|Investigational
TgeneCYP19A1P11511DB01217AnastrozoleInhibitorSmall moleculeApproved|Investigational
TgeneCYP19A1P11511DB01217AnastrozoleInhibitorSmall moleculeApproved|Investigational
TgeneCYP19A1P11511DB01217AnastrozoleInhibitorSmall moleculeApproved|Investigational

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Related Diseases for PLEKHA6-CYP19A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePLEKHA6C0036341Schizophrenia1PSYGENET
TgeneCYP19A1C1960539Aromatase deficiency7CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneCYP19A1C0006142Malignant neoplasm of breast5CTD_human
TgeneCYP19A1C0678222Breast Carcinoma5CTD_human
TgeneCYP19A1C1257931Mammary Neoplasms, Human5CTD_human
TgeneCYP19A1C1458155Mammary Neoplasms5CTD_human
TgeneCYP19A1C4704874Mammary Carcinoma, Human5CTD_human
TgeneCYP19A1C0032460Polycystic Ovary Syndrome4CTD_human
TgeneCYP19A1C1136382Sclerocystic Ovaries4CTD_human
TgeneCYP19A1C1970109AROMATASE EXCESS SYNDROME3GENOMICS_ENGLAND;ORPHANET
TgeneCYP19A1C0014175Endometriosis2CTD_human
TgeneCYP19A1C0033578Prostatic Neoplasms2CTD_human
TgeneCYP19A1C0269102Endometrioma2CTD_human
TgeneCYP19A1C0376358Malignant neoplasm of prostate2CTD_human
TgeneCYP19A1C0001418Adenocarcinoma1CTD_human
TgeneCYP19A1C0001787Osteoporosis, Age-Related1CTD_human
TgeneCYP19A1C0002453Amenorrhea1CTD_human
TgeneCYP19A1C0004352Autistic Disorder1CTD_human
TgeneCYP19A1C0005974Bone Resorption1CTD_human
TgeneCYP19A1C0014859Esophageal Neoplasms1CTD_human
TgeneCYP19A1C0015695Fatty Liver1CTD_human
TgeneCYP19A1C0016059Fibrosis1CTD_human
TgeneCYP19A1C0020619Hypogonadism1CTD_human
TgeneCYP19A1C0020635Hypopituitarism1CTD_human
TgeneCYP19A1C0021361Female infertility1CTD_human
TgeneCYP19A1C0027627Neoplasm Metastasis1CTD_human
TgeneCYP19A1C0029456Osteoporosis1CTD_human
TgeneCYP19A1C0029459Osteoporosis, Senile1CTD_human
TgeneCYP19A1C0029928Ovarian Diseases1CTD_human
TgeneCYP19A1C0032796Postpartum Amenorrhea1CTD_human
TgeneCYP19A1C0038279Sterility, Postpartum1CTD_human
TgeneCYP19A1C0085207Gestational Diabetes1CTD_human
TgeneCYP19A1C0086132Depressive Symptoms1PSYGENET
TgeneCYP19A1C0205641Adenocarcinoma, Basal Cell1CTD_human
TgeneCYP19A1C0205642Adenocarcinoma, Oxyphilic1CTD_human
TgeneCYP19A1C0205643Carcinoma, Cribriform1CTD_human
TgeneCYP19A1C0205644Carcinoma, Granular Cell1CTD_human
TgeneCYP19A1C0205645Adenocarcinoma, Tubular1CTD_human
TgeneCYP19A1C0236663Alcohol withdrawal syndrome1PSYGENET
TgeneCYP19A1C0242341Sexual Infantilism1CTD_human
TgeneCYP19A1C0242342Sheehan Syndrome1CTD_human
TgeneCYP19A1C0271623Hypogonadotropic hypogonadism1CTD_human
TgeneCYP19A1C0341869Subfertility, Female1CTD_human
TgeneCYP19A1C0546837Malignant neoplasm of esophagus1CTD_human
TgeneCYP19A1C0751406Post-Traumatic Osteoporosis1CTD_human
TgeneCYP19A1C0853662Oestrogen deficiency1ORPHANET
TgeneCYP19A1C0917730Female sterility1CTD_human
TgeneCYP19A1C0948896Primary hypogonadism1CTD_human
TgeneCYP19A1C1563718Genital Infantilism1CTD_human
TgeneCYP19A1C1623038Cirrhosis1CTD_human
TgeneCYP19A1C2711227Steatohepatitis1CTD_human
TgeneCYP19A1C3489396Hypogonadism, Isolated Hypogonadotropic1CTD_human