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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:CYP19A1-EFTUD2 (FusionGDB2 ID:21013)

Fusion Gene Summary for CYP19A1-EFTUD2

check button Fusion gene summary
Fusion gene informationFusion gene name: CYP19A1-EFTUD2
Fusion gene ID: 21013
HgeneTgene
Gene symbol

CYP19A1

EFTUD2

Gene ID

1588

9343

Gene namecytochrome P450 family 19 subfamily A member 1elongation factor Tu GTP binding domain containing 2
SynonymsARO|ARO1|CPV1|CYAR|CYP19|CYPXIX|P-450AROMMFDGA|MFDM|SNRNP116|Snrp116|Snu114|U5-116KD
Cytomap

15q21.2

17q21.31

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 monoo116 kDa U5 small nuclear ribonucleoprotein componentSNU114 homologU5 snRNP-specific protein, 116 kDaelongation factor Tu GTP-binding domain-containing protein 2hSNU114
Modification date2020031320200313
UniProtAcc

P11511

Q15029

Ensembl transtripts involved in fusion geneENST00000260433, ENST00000396402, 
ENST00000396404, ENST00000405913, 
ENST00000492852, ENST00000557858, 
ENST00000559878, 
ENST00000402521, 
ENST00000426333, ENST00000591382, 
ENST00000592576, ENST00000589211, 
Fusion gene scores* DoF score10 X 10 X 1=1004 X 4 X 2=32
# samples 104
** MAII scorelog2(10/100*10)=0log2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CYP19A1 [Title/Abstract] AND EFTUD2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCYP19A1(51630244)-EFTUD2(42953384), # 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
HgeneCYP19A1

GO:0006710

androgen catabolic process

26482249

HgeneCYP19A1

GO:2000866

positive regulation of estradiol secretion

26482249

TgeneEFTUD2

GO:0000398

mRNA splicing, via spliceosome

28076346


check buttonFusion gene breakpoints across CYP19A1 (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 EFTUD2 (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/ACV359808CYP19A1chr15

51630244

-EFTUD2chr17

42953384

+


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Fusion Gene ORF analysis for CYP19A1-EFTUD2

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-3CDSENST00000260433ENST00000402521CYP19A1chr15

51630244

-EFTUD2chr17

42953384

+
intron-3CDSENST00000260433ENST00000426333CYP19A1chr15

51630244

-EFTUD2chr17

42953384

+
intron-3CDSENST00000260433ENST00000591382CYP19A1chr15

51630244

-EFTUD2chr17

42953384

+
intron-3CDSENST00000260433ENST00000592576CYP19A1chr15

51630244

-EFTUD2chr17

42953384

+
intron-3CDSENST00000396402ENST00000402521CYP19A1chr15

51630244

-EFTUD2chr17

42953384

+
intron-3CDSENST00000396402ENST00000426333CYP19A1chr15

51630244

-EFTUD2chr17

42953384

+
intron-3CDSENST00000396402ENST00000591382CYP19A1chr15

51630244

-EFTUD2chr17

42953384

+
intron-3CDSENST00000396402ENST00000592576CYP19A1chr15

51630244

-EFTUD2chr17

42953384

+
intron-3CDSENST00000396404ENST00000402521CYP19A1chr15

51630244

-EFTUD2chr17

42953384

+
intron-3CDSENST00000396404ENST00000426333CYP19A1chr15

51630244

-EFTUD2chr17

42953384

+
intron-3CDSENST00000396404ENST00000591382CYP19A1chr15

51630244

-EFTUD2chr17

42953384

+
intron-3CDSENST00000396404ENST00000592576CYP19A1chr15

51630244

-EFTUD2chr17

42953384

+
intron-3CDSENST00000405913ENST00000402521CYP19A1chr15

51630244

-EFTUD2chr17

42953384

+
intron-3CDSENST00000405913ENST00000426333CYP19A1chr15

51630244

-EFTUD2chr17

42953384

+
intron-3CDSENST00000405913ENST00000591382CYP19A1chr15

51630244

-EFTUD2chr17

42953384

+
intron-3CDSENST00000405913ENST00000592576CYP19A1chr15

51630244

-EFTUD2chr17

42953384

+
intron-3CDSENST00000492852ENST00000402521CYP19A1chr15

51630244

-EFTUD2chr17

42953384

+
intron-3CDSENST00000492852ENST00000426333CYP19A1chr15

51630244

-EFTUD2chr17

42953384

+
intron-3CDSENST00000492852ENST00000591382CYP19A1chr15

51630244

-EFTUD2chr17

42953384

+
intron-3CDSENST00000492852ENST00000592576CYP19A1chr15

51630244

-EFTUD2chr17

42953384

+
intron-3CDSENST00000557858ENST00000402521CYP19A1chr15

51630244

-EFTUD2chr17

42953384

+
intron-3CDSENST00000557858ENST00000426333CYP19A1chr15

51630244

-EFTUD2chr17

42953384

+
intron-3CDSENST00000557858ENST00000591382CYP19A1chr15

51630244

-EFTUD2chr17

42953384

+
intron-3CDSENST00000557858ENST00000592576CYP19A1chr15

51630244

-EFTUD2chr17

42953384

+
intron-3CDSENST00000559878ENST00000402521CYP19A1chr15

51630244

-EFTUD2chr17

42953384

+
intron-3CDSENST00000559878ENST00000426333CYP19A1chr15

51630244

-EFTUD2chr17

42953384

+
intron-3CDSENST00000559878ENST00000591382CYP19A1chr15

51630244

-EFTUD2chr17

42953384

+
intron-3CDSENST00000559878ENST00000592576CYP19A1chr15

51630244

-EFTUD2chr17

42953384

+
intron-intronENST00000260433ENST00000589211CYP19A1chr15

51630244

-EFTUD2chr17

42953384

+
intron-intronENST00000396402ENST00000589211CYP19A1chr15

51630244

-EFTUD2chr17

42953384

+
intron-intronENST00000396404ENST00000589211CYP19A1chr15

51630244

-EFTUD2chr17

42953384

+
intron-intronENST00000405913ENST00000589211CYP19A1chr15

51630244

-EFTUD2chr17

42953384

+
intron-intronENST00000492852ENST00000589211CYP19A1chr15

51630244

-EFTUD2chr17

42953384

+
intron-intronENST00000557858ENST00000589211CYP19A1chr15

51630244

-EFTUD2chr17

42953384

+
intron-intronENST00000559878ENST00000589211CYP19A1chr15

51630244

-EFTUD2chr17

42953384

+

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 CYP19A1-EFTUD2


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 CYP19A1-EFTUD2


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:51630244/:42953384)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

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

P11511

EFTUD2

Q15029

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}.FUNCTION: Required for pre-mRNA splicing as component of the spliceosome, including pre-catalytic, catalytic and post-catalytic spliceosomal complexes (PubMed:28502770, PubMed:28781166, PubMed:28076346, PubMed:29361316, PubMed:30315277, PubMed:29360106, PubMed:29301961, PubMed:30705154). Component of the U5 snRNP and the U4/U6-U5 tri-snRNP complex, a building block of the spliceosome (PubMed:16723661). {ECO:0000269|PubMed:16723661, ECO:0000269|PubMed:28076346, ECO:0000269|PubMed:28502770, ECO:0000269|PubMed:28781166, ECO:0000269|PubMed:29301961, ECO:0000269|PubMed:29360106, ECO:0000269|PubMed:29361316, ECO:0000269|PubMed:30315277, ECO:0000269|PubMed:30705154}.

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 CYP19A1-EFTUD2


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 CYP19A1-EFTUD2


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 CYP19A1-EFTUD2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for CYP19A1-EFTUD2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource