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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:CYP3A5-ATP2A2 (FusionGDB2 ID:HG1577TG488)

Fusion Gene Summary for CYP3A5-ATP2A2

check button Fusion gene summary
Fusion gene informationFusion gene name: CYP3A5-ATP2A2
Fusion gene ID: hg1577tg488
HgeneTgene
Gene symbol

CYP3A5

ATP2A2

Gene ID

1577

488

Gene namecytochrome P450 family 3 subfamily A member 5ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
SynonymsCP35|CYPIIIA5|P450PCN3|PCN3ATP2B|DAR|DD|SERCA2
Cytomap('CYP3A5')('ATP2A2')

7q22.1

12q24.11

Type of geneprotein-codingprotein-coding
Descriptioncytochrome P450 3A5aryl hydrocarbon hydroxylasecytochrome P450 HLp2cytochrome P450, family 3, subfamily A, polypeptide 5cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 5cytochrome P450-PCN3flavoprotein-linked monooxygenasemicrososarcoplasmic/endoplasmic reticulum calcium ATPase 2ATPase Ca++ transporting cardiac muscle slow twitch 2ATPase, Ca++ dependent, slow-twitch, cardiac muscle-2SR Ca(2+)-ATPase 2calcium pump 2calcium-transporting ATPase sarcoplasmic reticulum type, slow
Modification date2020032020200313
UniProtAcc

P20815

.
Ensembl transtripts involved in fusion geneENST00000339843, ENST00000222982, 
ENST00000343703, ENST00000439761, 
ENST00000480723, 
Fusion gene scores* DoF score4 X 3 X 3=3619 X 23 X 6=2622
# samples 323
** MAII scorelog2(3/36*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(23/2622*10)=-3.51096191927738
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CYP3A5 [Title/Abstract] AND ATP2A2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCYP3A5(99272156)-ATP2A2(110788097), # samples:1
Anticipated loss of major functional domain due to fusion event.CYP3A5-ATP2A2 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
CYP3A5-ATP2A2 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
* 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
HgeneCYP3A5

GO:0002933

lipid hydroxylation

14559847

HgeneCYP3A5

GO:0008202

steroid metabolic process

14559847

HgeneCYP3A5

GO:0008210

estrogen metabolic process

12865317

HgeneCYP3A5

GO:0009822

alkaloid catabolic process

15039299

HgeneCYP3A5

GO:0042573

retinoic acid metabolic process

11093772

HgeneCYP3A5

GO:0042737

drug catabolic process

15039299

HgeneCYP3A5

GO:0070989

oxidative demethylation

15039299

TgeneATP2A2

GO:0032469

endoplasmic reticulum calcium ion homeostasis

16402920

TgeneATP2A2

GO:0032470

positive regulation of endoplasmic reticulum calcium ion concentration

16402920

TgeneATP2A2

GO:0070588

calcium ion transmembrane transport

16402920

TgeneATP2A2

GO:1903515

calcium ion transport from cytosol to endoplasmic reticulum

16402920



check button Fusion gene information
* 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
ChimerDB4STADTCGA-BR-8058-01ACYP3A5chr7

99272156

-ATP2A2chr12

110788097

+


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Fusion Gene ORF analysis for CYP3A5-ATP2A2

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
3UTR-3CDSENST00000339843ENST00000308664CYP3A5chr7

99272156

-ATP2A2chr12

110788097

+
3UTR-3UTRENST00000339843ENST00000395494CYP3A5chr7

99272156

-ATP2A2chr12

110788097

+
3UTR-intronENST00000339843ENST00000539276CYP3A5chr7

99272156

-ATP2A2chr12

110788097

+
3UTR-intronENST00000339843ENST00000550248CYP3A5chr7

99272156

-ATP2A2chr12

110788097

+
3UTR-intronENST00000339843ENST00000552636CYP3A5chr7

99272156

-ATP2A2chr12

110788097

+
5CDS-3UTRENST00000222982ENST00000395494CYP3A5chr7

99272156

-ATP2A2chr12

110788097

+
5CDS-3UTRENST00000343703ENST00000395494CYP3A5chr7

99272156

-ATP2A2chr12

110788097

+
5CDS-3UTRENST00000439761ENST00000395494CYP3A5chr7

99272156

-ATP2A2chr12

110788097

+
5CDS-intronENST00000222982ENST00000539276CYP3A5chr7

99272156

-ATP2A2chr12

110788097

+
5CDS-intronENST00000222982ENST00000550248CYP3A5chr7

99272156

-ATP2A2chr12

110788097

+
5CDS-intronENST00000222982ENST00000552636CYP3A5chr7

99272156

-ATP2A2chr12

110788097

+
5CDS-intronENST00000343703ENST00000539276CYP3A5chr7

99272156

-ATP2A2chr12

110788097

+
5CDS-intronENST00000343703ENST00000550248CYP3A5chr7

99272156

-ATP2A2chr12

110788097

+
5CDS-intronENST00000343703ENST00000552636CYP3A5chr7

99272156

-ATP2A2chr12

110788097

+
5CDS-intronENST00000439761ENST00000539276CYP3A5chr7

99272156

-ATP2A2chr12

110788097

+
5CDS-intronENST00000439761ENST00000550248CYP3A5chr7

99272156

-ATP2A2chr12

110788097

+
5CDS-intronENST00000439761ENST00000552636CYP3A5chr7

99272156

-ATP2A2chr12

110788097

+
5UTR-3CDSENST00000480723ENST00000308664CYP3A5chr7

99272156

-ATP2A2chr12

110788097

+
5UTR-3UTRENST00000480723ENST00000395494CYP3A5chr7

99272156

-ATP2A2chr12

110788097

+
5UTR-intronENST00000480723ENST00000539276CYP3A5chr7

99272156

-ATP2A2chr12

110788097

+
5UTR-intronENST00000480723ENST00000550248CYP3A5chr7

99272156

-ATP2A2chr12

110788097

+
5UTR-intronENST00000480723ENST00000552636CYP3A5chr7

99272156

-ATP2A2chr12

110788097

+
Frame-shiftENST00000222982ENST00000308664CYP3A5chr7

99272156

-ATP2A2chr12

110788097

+
Frame-shiftENST00000343703ENST00000308664CYP3A5chr7

99272156

-ATP2A2chr12

110788097

+
Frame-shiftENST00000439761ENST00000308664CYP3A5chr7

99272156

-ATP2A2chr12

110788097

+

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 CYP3A5-ATP2A2


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)
CYP3A5chr799272155-ATP2A2chr12110788096+0.277999760.72200024
CYP3A5chr799272155-ATP2A2chr12110788096+0.277999760.72200024


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.
genomic feature of top 1%

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Fusion Protein Features for CYP3A5-ATP2A2


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/:99272156/:110788097)
- 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
CYP3A5

P20815

.
FUNCTION: A cytochrome P450 monooxygenase involved in the metabolism of steroid hormones and vitamins (PubMed:2732228, PubMed:10681376, PubMed:11093772, PubMed:12865317). 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 (NADPH--hemoprotein reductase). Catalyzes the hydroxylation of carbon-hydrogen bonds (PubMed:12865317, PubMed:2732228, PubMed:10681376, PubMed:11093772). Exhibits high catalytic activity for the formation of catechol estrogens from 17beta-estradiol (E2) and estrone (E1), namely 2-hydroxy E1 and E2 (PubMed:12865317). Catalyzes 6beta-hydroxylation of the steroid hormones testosterone, progesterone, and androstenedione (PubMed:2732228). Catalyzes the oxidative conversion of all-trans-retinol to all-trans-retinal, a rate-limiting step for the biosynthesis of all-trans-retinoic acid (atRA) (PubMed:10681376). Further metabolizes all trans-retinoic acid (atRA) to 4-hydroxyretinoate and may play a role in hepatic atRA clearance (PubMed:11093772). Also involved in the oxidative metabolism of xenobiotics, including calcium channel blocking drug nifedipine and immunosuppressive drug cyclosporine (PubMed:2732228). {ECO:0000269|PubMed:10681376, ECO:0000269|PubMed:11093772, ECO:0000269|PubMed:12865317, ECO:0000269|PubMed:2732228}.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 CYP3A5-ATP2A2


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 CYP3A5-ATP2A2


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 CYP3A5-ATP2A2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneCYP3A5P20815DB09061CannabidiolInhibitorSmall moleculeApproved|Investigational

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Related Diseases for CYP3A5-ATP2A2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCYP3A5C0036341Schizophrenia3PSYGENET
HgeneCYP3A5C0022658Kidney Diseases2CTD_human
HgeneCYP3A5C0033578Prostatic Neoplasms1CTD_human
HgeneCYP3A5C0040053Thrombosis1CTD_human
HgeneCYP3A5C0087086Thrombus1CTD_human
HgeneCYP3A5C0149504Encephalopathy, Toxic1CTD_human
HgeneCYP3A5C0154659Toxic Encephalitis1CTD_human
HgeneCYP3A5C0235032Neurotoxicity Syndromes1CTD_human
HgeneCYP3A5C0376358Malignant neoplasm of prostate1CTD_human
HgeneCYP3A5C0809983Schizophrenia and related disorders1PSYGENET
TgeneC0022595Keratosis Follicularis12CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0265971Acrokeratosis Verruciformis of Hopf3CTD_human;ORPHANET;UNIPROT
TgeneC0011570Mental Depression2PSYGENET
TgeneC0011581Depressive disorder2PSYGENET
TgeneC0473575Acantholytic Dyskeratotic Epidermal Nevus2CTD_human
TgeneC0525045Mood Disorders2PSYGENET
TgeneC0002152Alloxan Diabetes1CTD_human
TgeneC0011853Diabetes Mellitus, Experimental1CTD_human
TgeneC0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
TgeneC0018799Heart Diseases1CTD_human
TgeneC0018800Cardiomegaly1CTD_human
TgeneC0018801Heart failure1CTD_human
TgeneC0018802Congestive heart failure1CTD_human;GENOMICS_ENGLAND
TgeneC0023212Left-Sided Heart Failure1CTD_human
TgeneC0027055Myocardial Reperfusion Injury1CTD_human
TgeneC0036341Schizophrenia1PSYGENET
TgeneC0038220Status Epilepticus1CTD_human
TgeneC0038433Streptozotocin Diabetes1CTD_human
TgeneC0206145Stunned Myocardium1CTD_human
TgeneC0206146Myocardial Stunning1CTD_human
TgeneC0235527Heart Failure, Right-Sided1CTD_human
TgeneC0242698Ventricular Dysfunction, Left1CTD_human
TgeneC0270823Petit mal status1CTD_human
TgeneC0311335Grand Mal Status Epilepticus1CTD_human
TgeneC0376416Hibernation, Myocardial1CTD_human
TgeneC0393734Complex Partial Status Epilepticus1CTD_human
TgeneC0751522Status Epilepticus, Subclinical1CTD_human
TgeneC0751523Non-Convulsive Status Epilepticus1CTD_human
TgeneC0751524Simple Partial Status Epilepticus1CTD_human
TgeneC0853897Diabetic Cardiomyopathies1CTD_human
TgeneC1383860Cardiac Hypertrophy1CTD_human
TgeneC1959583Myocardial Failure1CTD_human
TgeneC1961112Heart Decompensation1CTD_human