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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:CGGBP1-CYP3A5 (FusionGDB2 ID:HG8545TG1577)

Fusion Gene Summary for CGGBP1-CYP3A5

check button Fusion gene summary
Fusion gene informationFusion gene name: CGGBP1-CYP3A5
Fusion gene ID: hg8545tg1577
HgeneTgene
Gene symbol

CGGBP1

CYP3A5

Gene ID

8545

1577

Gene nameCGG triplet repeat binding protein 1cytochrome P450 family 3 subfamily A member 5
SynonymsCGGBP|p20-CGGBPCP35|CYPIIIA5|P450PCN3|PCN3
Cytomap('CGGBP1')('CYP3A5')

3p11.1

7q22.1

Type of geneprotein-codingprotein-coding
DescriptionCGG triplet repeat-binding protein 120 kDa CGG-binding proteinCGG-binding protein 1p20-CGG binding proteinp20-CGGBP DNA-binding proteincytochrome P450 3A5aryl hydrocarbon hydroxylasecytochrome P450 HLp2cytochrome P450, family 3, subfamily A, polypeptide 5cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 5cytochrome P450-PCN3flavoprotein-linked monooxygenasemicroso
Modification date2020032720200320
UniProtAcc.

P20815

Ensembl transtripts involved in fusion geneENST00000309534, ENST00000462901, 
ENST00000482016, ENST00000398392, 
ENST00000474441, 
Fusion gene scores* DoF score7 X 4 X 5=1408 X 5 X 4=160
# samples 79
** MAII scorelog2(7/140*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/160*10)=-0.830074998557688
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CGGBP1 [Title/Abstract] AND CYP3A5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCGGBP1(88107169)-CYP3A5(99261718), # 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
HgeneCGGBP1

GO:0000122

negative regulation of transcription by RNA polymerase II

10692448

TgeneCYP3A5

GO:0002933

lipid hydroxylation

14559847

TgeneCYP3A5

GO:0008202

steroid metabolic process

14559847

TgeneCYP3A5

GO:0008210

estrogen metabolic process

12865317

TgeneCYP3A5

GO:0009822

alkaloid catabolic process

15039299

TgeneCYP3A5

GO:0042573

retinoic acid metabolic process

11093772

TgeneCYP3A5

GO:0042737

drug catabolic process

15039299

TgeneCYP3A5

GO:0070989

oxidative demethylation

15039299



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
ChimerDB4Non-CancerTCGA-IN-8462-11ACGGBP1chr3

88107169

-CYP3A5chr7

99261718

-


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Fusion Gene ORF analysis for CGGBP1-CYP3A5

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
5UTR-3CDSENST00000309534ENST00000222982CGGBP1chr3

88107169

-CYP3A5chr7

99261718

-
5UTR-3CDSENST00000309534ENST00000343703CGGBP1chr3

88107169

-CYP3A5chr7

99261718

-
5UTR-3CDSENST00000462901ENST00000222982CGGBP1chr3

88107169

-CYP3A5chr7

99261718

-
5UTR-3CDSENST00000462901ENST00000343703CGGBP1chr3

88107169

-CYP3A5chr7

99261718

-
5UTR-3CDSENST00000482016ENST00000222982CGGBP1chr3

88107169

-CYP3A5chr7

99261718

-
5UTR-3CDSENST00000482016ENST00000343703CGGBP1chr3

88107169

-CYP3A5chr7

99261718

-
5UTR-3UTRENST00000309534ENST00000339843CGGBP1chr3

88107169

-CYP3A5chr7

99261718

-
5UTR-3UTRENST00000462901ENST00000339843CGGBP1chr3

88107169

-CYP3A5chr7

99261718

-
5UTR-3UTRENST00000482016ENST00000339843CGGBP1chr3

88107169

-CYP3A5chr7

99261718

-
5UTR-intronENST00000309534ENST00000439761CGGBP1chr3

88107169

-CYP3A5chr7

99261718

-
5UTR-intronENST00000309534ENST00000480723CGGBP1chr3

88107169

-CYP3A5chr7

99261718

-
5UTR-intronENST00000462901ENST00000439761CGGBP1chr3

88107169

-CYP3A5chr7

99261718

-
5UTR-intronENST00000462901ENST00000480723CGGBP1chr3

88107169

-CYP3A5chr7

99261718

-
5UTR-intronENST00000482016ENST00000439761CGGBP1chr3

88107169

-CYP3A5chr7

99261718

-
5UTR-intronENST00000482016ENST00000480723CGGBP1chr3

88107169

-CYP3A5chr7

99261718

-
intron-3CDSENST00000398392ENST00000222982CGGBP1chr3

88107169

-CYP3A5chr7

99261718

-
intron-3CDSENST00000398392ENST00000343703CGGBP1chr3

88107169

-CYP3A5chr7

99261718

-
intron-3CDSENST00000474441ENST00000222982CGGBP1chr3

88107169

-CYP3A5chr7

99261718

-
intron-3CDSENST00000474441ENST00000343703CGGBP1chr3

88107169

-CYP3A5chr7

99261718

-
intron-3UTRENST00000398392ENST00000339843CGGBP1chr3

88107169

-CYP3A5chr7

99261718

-
intron-3UTRENST00000474441ENST00000339843CGGBP1chr3

88107169

-CYP3A5chr7

99261718

-
intron-intronENST00000398392ENST00000439761CGGBP1chr3

88107169

-CYP3A5chr7

99261718

-
intron-intronENST00000398392ENST00000480723CGGBP1chr3

88107169

-CYP3A5chr7

99261718

-
intron-intronENST00000474441ENST00000439761CGGBP1chr3

88107169

-CYP3A5chr7

99261718

-
intron-intronENST00000474441ENST00000480723CGGBP1chr3

88107169

-CYP3A5chr7

99261718

-

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 CGGBP1-CYP3A5


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 CGGBP1-CYP3A5


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/:88107169/:99261718)
- 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: 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: 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}.

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 CGGBP1-CYP3A5


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 CGGBP1-CYP3A5


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 CGGBP1-CYP3A5


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCYP3A5P20815DB09061CannabidiolInhibitorSmall moleculeApproved|Investigational

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Related Diseases for CGGBP1-CYP3A5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0036341Schizophrenia3PSYGENET
TgeneC0022658Kidney Diseases2CTD_human
TgeneC0033578Prostatic Neoplasms1CTD_human
TgeneC0040053Thrombosis1CTD_human
TgeneC0087086Thrombus1CTD_human
TgeneC0149504Encephalopathy, Toxic1CTD_human
TgeneC0154659Toxic Encephalitis1CTD_human
TgeneC0235032Neurotoxicity Syndromes1CTD_human
TgeneC0376358Malignant neoplasm of prostate1CTD_human
TgeneC0809983Schizophrenia and related disorders1PSYGENET