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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:ZFAND2B-CYP27A1 (FusionGDB2 ID:100893)

Fusion Gene Summary for ZFAND2B-CYP27A1

check button Fusion gene summary
Fusion gene informationFusion gene name: ZFAND2B-CYP27A1
Fusion gene ID: 100893
HgeneTgene
Gene symbol

ZFAND2B

CYP27A1

Gene ID

130617

1593

Gene namezinc finger AN1-type containing 2Bcytochrome P450 family 27 subfamily A member 1
SynonymsAIRAPLCP27|CTX|CYP27
Cytomap

2q35

2q35

Type of geneprotein-codingprotein-coding
DescriptionAN1-type zinc finger protein 2BAIRAP-like proteinarsenite-inducible RNA-associated protein-like proteinzinc finger, AN1-type domain 2Bsterol 26-hydroxylase, mitochondrial5-beta-cholestane-3-alpha, 7-alpha, 12-alpha-triol 26-hydroxylase5-beta-cholestane-3-alpha, 7-alpha, 12-alpha-triol 27-hydroxylasecholestanetriol 26-monooxygenasecytochrome P-450C27/25cytochrome P450 27cytochrome
Modification date2020031320200320
UniProtAcc.

Q02318

Ensembl transtripts involved in fusion geneENST00000468301, ENST00000289528, 
ENST00000409097, ENST00000409206, 
ENST00000409217, ENST00000409319, 
ENST00000409336, ENST00000409412, 
ENST00000409594, ENST00000444522, 
ENST00000258415, 
Fusion gene scores* DoF score2 X 4 X 2=166 X 7 X 4=168
# samples 57
** MAII scorelog2(5/16*10)=1.64385618977472
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(7/168*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ZFAND2B [Title/Abstract] AND CYP27A1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointZFAND2B(220071764)-CYP27A1(219674300), # samples:3
Anticipated loss of major functional domain due to fusion event.ZFAND2B-CYP27A1 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
TgeneCYP27A1

GO:0006699

bile acid biosynthetic process

9660774|11412116

TgeneCYP27A1

GO:0006707

cholesterol catabolic process

9660774

TgeneCYP27A1

GO:0036378

calcitriol biosynthetic process from calciol

15465040


check buttonFusion gene breakpoints across ZFAND2B (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 CYP27A1 (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
ChimerDB4STADTCGA-BR-7197-01AZFAND2Bchr2

220071764

-CYP27A1chr2

219674300

+
ChimerDB4STADTCGA-BR-7197-01AZFAND2Bchr2

220071764

+CYP27A1chr2

219674300

+
ChimerDB4STADTCGA-BR-7197-01AZFAND2Bchr2

220071764

+CYP27A1chr2

219674346

+
ChimerDB4STADTCGA-BR-7197-01AZFAND2Bchr2

220071764

+CYP27A1chr2

219676945

+
ChimerDB4STADTCGA-BR-7197ZFAND2Bchr2

220071764

+CYP27A1chr2

219674299

+


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Fusion Gene ORF analysis for ZFAND2B-CYP27A1

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-3CDSENST00000468301ENST00000258415ZFAND2Bchr2

220071764

+CYP27A1chr2

219674300

+
3UTR-3CDSENST00000468301ENST00000258415ZFAND2Bchr2

220071764

+CYP27A1chr2

219674346

+
3UTR-3CDSENST00000468301ENST00000258415ZFAND2Bchr2

220071764

+CYP27A1chr2

219676945

+
3UTR-3CDSENST00000468301ENST00000258415ZFAND2Bchr2

220071764

+CYP27A1chr2

219674299

+
Frame-shiftENST00000289528ENST00000258415ZFAND2Bchr2

220071764

+CYP27A1chr2

219674300

+
Frame-shiftENST00000289528ENST00000258415ZFAND2Bchr2

220071764

+CYP27A1chr2

219674346

+
Frame-shiftENST00000289528ENST00000258415ZFAND2Bchr2

220071764

+CYP27A1chr2

219676945

+
Frame-shiftENST00000289528ENST00000258415ZFAND2Bchr2

220071764

+CYP27A1chr2

219674299

+
Frame-shiftENST00000409097ENST00000258415ZFAND2Bchr2

220071764

+CYP27A1chr2

219674300

+
Frame-shiftENST00000409097ENST00000258415ZFAND2Bchr2

220071764

+CYP27A1chr2

219674346

+
Frame-shiftENST00000409097ENST00000258415ZFAND2Bchr2

220071764

+CYP27A1chr2

219676945

+
Frame-shiftENST00000409097ENST00000258415ZFAND2Bchr2

220071764

+CYP27A1chr2

219674299

+
Frame-shiftENST00000409206ENST00000258415ZFAND2Bchr2

220071764

+CYP27A1chr2

219674300

+
Frame-shiftENST00000409206ENST00000258415ZFAND2Bchr2

220071764

+CYP27A1chr2

219674346

+
Frame-shiftENST00000409206ENST00000258415ZFAND2Bchr2

220071764

+CYP27A1chr2

219676945

+
Frame-shiftENST00000409206ENST00000258415ZFAND2Bchr2

220071764

+CYP27A1chr2

219674299

+
Frame-shiftENST00000409217ENST00000258415ZFAND2Bchr2

220071764

+CYP27A1chr2

219674300

+
Frame-shiftENST00000409217ENST00000258415ZFAND2Bchr2

220071764

+CYP27A1chr2

219674346

+
Frame-shiftENST00000409217ENST00000258415ZFAND2Bchr2

220071764

+CYP27A1chr2

219676945

+
Frame-shiftENST00000409217ENST00000258415ZFAND2Bchr2

220071764

+CYP27A1chr2

219674299

+
Frame-shiftENST00000409319ENST00000258415ZFAND2Bchr2

220071764

+CYP27A1chr2

219674300

+
Frame-shiftENST00000409319ENST00000258415ZFAND2Bchr2

220071764

+CYP27A1chr2

219674346

+
Frame-shiftENST00000409319ENST00000258415ZFAND2Bchr2

220071764

+CYP27A1chr2

219676945

+
Frame-shiftENST00000409319ENST00000258415ZFAND2Bchr2

220071764

+CYP27A1chr2

219674299

+
Frame-shiftENST00000409336ENST00000258415ZFAND2Bchr2

220071764

+CYP27A1chr2

219674300

+
Frame-shiftENST00000409336ENST00000258415ZFAND2Bchr2

220071764

+CYP27A1chr2

219674346

+
Frame-shiftENST00000409336ENST00000258415ZFAND2Bchr2

220071764

+CYP27A1chr2

219676945

+
Frame-shiftENST00000409336ENST00000258415ZFAND2Bchr2

220071764

+CYP27A1chr2

219674299

+
Frame-shiftENST00000409412ENST00000258415ZFAND2Bchr2

220071764

+CYP27A1chr2

219674300

+
Frame-shiftENST00000409412ENST00000258415ZFAND2Bchr2

220071764

+CYP27A1chr2

219674346

+
Frame-shiftENST00000409412ENST00000258415ZFAND2Bchr2

220071764

+CYP27A1chr2

219676945

+
Frame-shiftENST00000409412ENST00000258415ZFAND2Bchr2

220071764

+CYP27A1chr2

219674299

+
Frame-shiftENST00000409594ENST00000258415ZFAND2Bchr2

220071764

+CYP27A1chr2

219674300

+
Frame-shiftENST00000409594ENST00000258415ZFAND2Bchr2

220071764

+CYP27A1chr2

219674346

+
Frame-shiftENST00000409594ENST00000258415ZFAND2Bchr2

220071764

+CYP27A1chr2

219676945

+
Frame-shiftENST00000409594ENST00000258415ZFAND2Bchr2

220071764

+CYP27A1chr2

219674299

+
Frame-shiftENST00000444522ENST00000258415ZFAND2Bchr2

220071764

+CYP27A1chr2

219674300

+
Frame-shiftENST00000444522ENST00000258415ZFAND2Bchr2

220071764

+CYP27A1chr2

219674346

+
Frame-shiftENST00000444522ENST00000258415ZFAND2Bchr2

220071764

+CYP27A1chr2

219676945

+
Frame-shiftENST00000444522ENST00000258415ZFAND2Bchr2

220071764

+CYP27A1chr2

219674299

+

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 ZFAND2B-CYP27A1


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)
ZFAND2Bchr2220071764+CYP27A1chr2219674299+1.03E-070.9999999
ZFAND2Bchr2220071764+CYP27A1chr2219674299+1.03E-070.9999999
ZFAND2Bchr2220071764+CYP27A1chr2219676944+1.21E-091
ZFAND2Bchr2220071764+CYP27A1chr2219674299+1.03E-070.9999999
ZFAND2Bchr2220071764+CYP27A1chr2219674299+1.03E-070.9999999
ZFAND2Bchr2220071764+CYP27A1chr2219676944+1.21E-091

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.
genomic feature of top 1%

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Fusion Protein Features for ZFAND2B-CYP27A1


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/:220071764/:219674300)
- 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
.CYP27A1

Q02318

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: Cytochrome P450 monooxygenase that catalyzes regio- and stereospecific hydroxylation of cholesterol and its derivatives. Hydroxylates (with R stereochemistry) the terminal methyl group of cholesterol side-chain in a three step reaction to yield at first a C26 alcohol, then a C26 aldehyde and finally a C26 acid (PubMed:9660774, PubMed:12077124, PubMed:21411718, PubMed:28190002). Regulates cholesterol homeostasis by catalyzing the conversion of excess cholesterol to bile acids via both the 'neutral' (classic) and the 'acid' (alternative) pathways (PubMed:9660774, PubMed:1708392, PubMed:11412116, PubMed:2019602, PubMed:7915755, PubMed:9186905, PubMed:9790667). May also regulate cholesterol homeostasis via generation of active oxysterols, which act as ligands for NR1H2 and NR1H3 nuclear receptors, modulating the transcription of genes involved in lipid metabolism (PubMed:9660774, PubMed:12077124). Plays a role in cholestanol metabolism in the cerebellum. Similarly to cholesterol, hydroxylates cholestanol and may facilitate sterol diffusion through the blood-brain barrier to the systemic circulation for further degradation (PubMed:28190002). Also hydroxylates retinal 7-ketocholesterol, a noxious oxysterol with pro-inflammatory and pro-apoptotic effects, and may play a role in its elimination from the retinal pigment epithelium (PubMed:21411718). May play a redundant role in vitamin D biosynthesis. Catalyzes 25-hydroxylation of vitamin D3 that is required for its conversion to a functionally active form (PubMed:15465040). {ECO:0000269|PubMed:11412116, ECO:0000269|PubMed:12077124, ECO:0000269|PubMed:15465040, ECO:0000269|PubMed:1708392, ECO:0000269|PubMed:2019602, ECO:0000269|PubMed:21411718, ECO:0000269|PubMed:28190002, ECO:0000269|PubMed:7915755, ECO:0000269|PubMed:9186905, ECO:0000269|PubMed:9660774, ECO:0000269|PubMed:9790667}.

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 ZFAND2B-CYP27A1


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 ZFAND2B-CYP27A1


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 ZFAND2B-CYP27A1


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 ZFAND2B-CYP27A1


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