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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:MAT2A-CYP19A1 (FusionGDB2 ID:HG4144TG1588)

Fusion Gene Summary for MAT2A-CYP19A1

check button Fusion gene summary
Fusion gene informationFusion gene name: MAT2A-CYP19A1
Fusion gene ID: hg4144tg1588
HgeneTgene
Gene symbol

MAT2A

CYP19A1

Gene ID

4144

1588

Gene namemethionine adenosyltransferase 2Acytochrome P450 family 19 subfamily A member 1
SynonymsMATA2|MATII|SAMS2ARO|ARO1|CPV1|CYAR|CYP19|CYPXIX|P-450AROM
Cytomap('MAT2A')('CYP19A1')

2p11.2

15q21.2

Type of geneprotein-codingprotein-coding
DescriptionS-adenosylmethionine synthase isoform type-2MAT 2MAT-IIadoMet synthase 2adoMet synthetase 2methionine adenosyltransferase 2methionine adenosyltransferase II, alphatesticular tissue protein Li 121aromatasecytochrome 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..
Ensembl transtripts involved in fusion geneENST00000306434, ENST00000409017, 
ENST00000490878, 
Fusion gene scores* DoF score7 X 6 X 2=849 X 7 X 5=315
# samples 710
** MAII scorelog2(7/84*10)=-0.263034405833794
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: MAT2A [Title/Abstract] AND CYP19A1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMAT2A(85768067)-CYP19A1(51501777), # 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
HgeneMAT2A

GO:0006556

S-adenosylmethionine biosynthetic process

10644686|25075345

HgeneMAT2A

GO:0034214

protein hexamerization

25075345

HgeneMAT2A

GO:0051291

protein heterooligomerization

25075345

TgeneCYP19A1

GO:0006710

androgen catabolic process

26482249

TgeneCYP19A1

GO:2000866

positive regulation of estradiol secretion

26482249



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/ABG620787MAT2Achr2

85768067

+CYP19A1chr15

51501777

-


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Fusion Gene ORF analysis for MAT2A-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-3UTRENST00000306434ENST00000260433MAT2Achr2

85768067

+CYP19A1chr15

51501777

-
intron-3UTRENST00000306434ENST00000396402MAT2Achr2

85768067

+CYP19A1chr15

51501777

-
intron-3UTRENST00000409017ENST00000260433MAT2Achr2

85768067

+CYP19A1chr15

51501777

-
intron-3UTRENST00000409017ENST00000396402MAT2Achr2

85768067

+CYP19A1chr15

51501777

-
intron-3UTRENST00000490878ENST00000260433MAT2Achr2

85768067

+CYP19A1chr15

51501777

-
intron-3UTRENST00000490878ENST00000396402MAT2Achr2

85768067

+CYP19A1chr15

51501777

-
intron-intronENST00000306434ENST00000396404MAT2Achr2

85768067

+CYP19A1chr15

51501777

-
intron-intronENST00000306434ENST00000405913MAT2Achr2

85768067

+CYP19A1chr15

51501777

-
intron-intronENST00000306434ENST00000492852MAT2Achr2

85768067

+CYP19A1chr15

51501777

-
intron-intronENST00000306434ENST00000557858MAT2Achr2

85768067

+CYP19A1chr15

51501777

-
intron-intronENST00000306434ENST00000559878MAT2Achr2

85768067

+CYP19A1chr15

51501777

-
intron-intronENST00000409017ENST00000396404MAT2Achr2

85768067

+CYP19A1chr15

51501777

-
intron-intronENST00000409017ENST00000405913MAT2Achr2

85768067

+CYP19A1chr15

51501777

-
intron-intronENST00000409017ENST00000492852MAT2Achr2

85768067

+CYP19A1chr15

51501777

-
intron-intronENST00000409017ENST00000557858MAT2Achr2

85768067

+CYP19A1chr15

51501777

-
intron-intronENST00000409017ENST00000559878MAT2Achr2

85768067

+CYP19A1chr15

51501777

-
intron-intronENST00000490878ENST00000396404MAT2Achr2

85768067

+CYP19A1chr15

51501777

-
intron-intronENST00000490878ENST00000405913MAT2Achr2

85768067

+CYP19A1chr15

51501777

-
intron-intronENST00000490878ENST00000492852MAT2Achr2

85768067

+CYP19A1chr15

51501777

-
intron-intronENST00000490878ENST00000557858MAT2Achr2

85768067

+CYP19A1chr15

51501777

-
intron-intronENST00000490878ENST00000559878MAT2Achr2

85768067

+CYP19A1chr15

51501777

-

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 MAT2A-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)


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Fusion Protein Features for MAT2A-CYP19A1


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/:85768067/:51501777)
- 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
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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 MAT2A-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 MAT2A-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 MAT2A-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

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Related Diseases for MAT2A-CYP19A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMAT2AC4707243Familial thoracic aortic aneurysm and aortic dissection1CLINGEN;GENOMICS_ENGLAND;ORPHANET
TgeneC1960539Aromatase deficiency7CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0006142Malignant neoplasm of breast5CTD_human
TgeneC0678222Breast Carcinoma5CTD_human
TgeneC1257931Mammary Neoplasms, Human5CTD_human
TgeneC1458155Mammary Neoplasms5CTD_human
TgeneC4704874Mammary Carcinoma, Human5CTD_human
TgeneC0032460Polycystic Ovary Syndrome4CTD_human
TgeneC1136382Sclerocystic Ovaries4CTD_human
TgeneC1970109AROMATASE EXCESS SYNDROME3GENOMICS_ENGLAND;ORPHANET
TgeneC0014175Endometriosis2CTD_human
TgeneC0033578Prostatic Neoplasms2CTD_human
TgeneC0269102Endometrioma2CTD_human
TgeneC0376358Malignant neoplasm of prostate2CTD_human
TgeneC0001418Adenocarcinoma1CTD_human
TgeneC0001787Osteoporosis, Age-Related1CTD_human
TgeneC0002453Amenorrhea1CTD_human
TgeneC0004352Autistic Disorder1CTD_human
TgeneC0005974Bone Resorption1CTD_human
TgeneC0014859Esophageal Neoplasms1CTD_human
TgeneC0015695Fatty Liver1CTD_human
TgeneC0016059Fibrosis1CTD_human
TgeneC0020619Hypogonadism1CTD_human
TgeneC0020635Hypopituitarism1CTD_human
TgeneC0021361Female infertility1CTD_human
TgeneC0027627Neoplasm Metastasis1CTD_human
TgeneC0029456Osteoporosis1CTD_human
TgeneC0029459Osteoporosis, Senile1CTD_human
TgeneC0029928Ovarian Diseases1CTD_human
TgeneC0032796Postpartum Amenorrhea1CTD_human
TgeneC0038279Sterility, Postpartum1CTD_human
TgeneC0085207Gestational Diabetes1CTD_human
TgeneC0086132Depressive Symptoms1PSYGENET
TgeneC0205641Adenocarcinoma, Basal Cell1CTD_human
TgeneC0205642Adenocarcinoma, Oxyphilic1CTD_human
TgeneC0205643Carcinoma, Cribriform1CTD_human
TgeneC0205644Carcinoma, Granular Cell1CTD_human
TgeneC0205645Adenocarcinoma, Tubular1CTD_human
TgeneC0236663Alcohol withdrawal syndrome1PSYGENET
TgeneC0242341Sexual Infantilism1CTD_human
TgeneC0242342Sheehan Syndrome1CTD_human
TgeneC0271623Hypogonadotropic hypogonadism1CTD_human
TgeneC0341869Subfertility, Female1CTD_human
TgeneC0546837Malignant neoplasm of esophagus1CTD_human
TgeneC0751406Post-Traumatic Osteoporosis1CTD_human
TgeneC0853662Oestrogen deficiency1ORPHANET
TgeneC0917730Female sterility1CTD_human
TgeneC0948896Primary hypogonadism1CTD_human
TgeneC1563718Genital Infantilism1CTD_human
TgeneC1623038Cirrhosis1CTD_human
TgeneC2711227Steatohepatitis1CTD_human
TgeneC3489396Hypogonadism, Isolated Hypogonadotropic1CTD_human