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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:NBEAL1-CYP20A1 (FusionGDB2 ID:57410)

Fusion Gene Summary for NBEAL1-CYP20A1

check button Fusion gene summary
Fusion gene informationFusion gene name: NBEAL1-CYP20A1
Fusion gene ID: 57410
HgeneTgene
Gene symbol

NBEAL1

CYP20A1

Gene ID

65065

57404

Gene nameneurobeachin like 1cytochrome P450 family 20 subfamily A member 1
SynonymsA530083I02Rik|ALS2CR16|ALS2CR17CYP-M
Cytomap

2q33.2

2q33.2

Type of geneprotein-codingprotein-coding
Descriptionneurobeachin-like protein 1amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17amyotrophic lateral sclerosis 2 chromosomal region candidate gene 16 proteincytochrome P450 20A1cytochrome P450 monooxygenasecytochrome P450, family 20, subfamily A, polypeptide 1
Modification date2020031320200313
UniProtAcc

Q6ZS30

Q6UW02

Ensembl transtripts involved in fusion geneENST00000449802, ENST00000478884, 
ENST00000429815, ENST00000461371, 
ENST00000356079, 
Fusion gene scores* DoF score11 X 11 X 7=8478 X 11 X 5=440
# samples 129
** MAII scorelog2(12/847*10)=-2.81932756372368
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/440*10)=-2.28950661719499
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NBEAL1 [Title/Abstract] AND CYP20A1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointNBEAL1(203975005)-CYP20A1(204131237), # 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

check buttonFusion gene breakpoints across NBEAL1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across CYP20A1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChimerDB4LIHCTCGA-CC-5258-01ANBEAL1chr2

203975005

+CYP20A1chr2

204131237

+


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Fusion Gene ORF analysis for NBEAL1-CYP20A1

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
5CDS-3UTRENST00000449802ENST00000429815NBEAL1chr2

203975005

+CYP20A1chr2

204131237

+
5CDS-3UTRENST00000449802ENST00000461371NBEAL1chr2

203975005

+CYP20A1chr2

204131237

+
In-frameENST00000449802ENST00000356079NBEAL1chr2

203975005

+CYP20A1chr2

204131237

+
intron-3CDSENST00000478884ENST00000356079NBEAL1chr2

203975005

+CYP20A1chr2

204131237

+
intron-3UTRENST00000478884ENST00000429815NBEAL1chr2

203975005

+CYP20A1chr2

204131237

+
intron-3UTRENST00000478884ENST00000461371NBEAL1chr2

203975005

+CYP20A1chr2

204131237

+

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)
ENST00000449802NBEAL1chr2203975005+ENST00000356079CYP20A1chr2204131237+372223283333284983

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
ENST00000449802ENST00000356079NBEAL1chr2203975005+CYP20A1chr2204131237+0.0002995530.9997004

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Fusion Genomic Features for NBEAL1-CYP20A1


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)
NBEAL1chr2203975005+CYP20A1chr2204131236+2.22E-141
NBEAL1chr2203975005+CYP20A1chr2204131236+2.22E-141

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.
genomic feature

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 NBEAL1-CYP20A1


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/chr2:203975005/chr2:204131237)
- 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
NBEAL1

Q6ZS30

CYP20A1

Q6UW02


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
HgeneNBEAL1chr2:203975005chr2:204131237ENST00000449802+14551883_19806652695.0DomainBEACH-type PH
HgeneNBEAL1chr2:203975005chr2:204131237ENST00000449802+14551992_22846652695.0DomainBEACH
HgeneNBEAL1chr2:203975005chr2:204131237ENST00000449802+14552439_24786652695.0RepeatNote=WD 1
HgeneNBEAL1chr2:203975005chr2:204131237ENST00000449802+14552490_25316652695.0RepeatNote=WD 2
TgeneCYP20A1chr2:203975005chr2:204131237ENST000003560793134_24144463.0TransmembraneHelical


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Fusion Gene Sequence for NBEAL1-CYP20A1


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.
>57410_57410_1_NBEAL1-CYP20A1_NBEAL1_chr2_203975005_ENST00000449802_CYP20A1_chr2_204131237_ENST00000356079_length(transcript)=3722nt_BP=2328nt
GCTCGTCTGCCTGGCTGCGGGGTGACACGGGGCTTCGCCTTGGGAAGGGGTCGAGGGAAGCAGTTAGACGGCTGCCGGGCGGCGGCTGCC
GCGCGGCACACAATATTTATTTAATTGCCCAACTACCACTGATGAAGATATATTGGAGTGACTGCTGAAATTGCCTTTTTGTTTTTAACC
AGAGGACAGTCCATTTGTTTCACTTCTTTTTGCTTTCTTTACTGCTATGAGCTTTACTGAACGGCTGAAAAACTTGGAAAATAAAATGGA
CATGCTGTAGTCTTGAACATAATTTTTTTAAGGAAAACTTAAAGTGCCAGAGTGAAAGCCAGAATGGCATCCAGAGAGAGGCTCTTTGAA
CTTTGGATGCTTTATTGTACAAAGAAAGATCCAGATTACCTGAAGCTGTGGTTGGACACTTTTGTTTCTAGCTATGAACAATTTTTAGAC
GTTGACTTTGAAAAGCTGCCTACCAGGGTAGATGATATGCCTCCAGGAATATCTCTGCTTCCTGATAATATTCTGCAGGTTCTGAGGATC
CAGCTTCTACAGTGTGTTCAGAAAATGGCAGATGGGTTAGAGGAACAACAGCAAGCCTTGTCAATTTTGCTTGTCAAGTTCTTCATTATT
CTTTGCAGAAATCTATCAAATGTGGAAGAAATTGGGACTTGCTCGTACATTAATTATGTCATCACCATGACAACACTCTATATTCAGCAA
TTAAAAAGCAAAAAAAAAGAGAAGGAAATGGCAGATCAGACATGTATTGAAGAATTTGTGATCCACGCATTGGCATTTTGTGAAAGCTTA
TATGATCCATATCGGAATTGGAGACATAGAATTTCAGGACGAATCCTTAGTACTGTGGAAAAGAGCAGACAGAAATATAAACCAGCTTCT
CTCACAGTGGAATTCGTCCCTTTCTTTTATCAATGTTTTCAGGAAAGTGAACATCTCAAGGAAAGTCTTAAATGTTGCTTATTGCATCTC
TTTGGAGCCATTGTAGCCGGTGGGCAGAGGAATGCTTTGCAAGCAATTTCTCCAGCCACTATGGAAGTTCTTATGCGAGTATTGGCAGAT
TGTGATTCCTGGGAGGATGGAGATCCTGAAGAAGTGGGTAGGAAGGCAGAACTAACTCTGAAGTGCCTTACAGAAGTGGTACATATCCTT
CTCAGTAGCAACTCTGATCAGCGTCAAGTGGAAACCAGTACTATTCTGGAGAACTATTTTAAATTGCTAAATTCAGATCATTCAGCTTTA
CCTAATCAAAGGAGGTCCAGACAGTGGGAAAACCGATTTATTGCTCTACAGATCAAAATGCTGAATACCATCACAGCCATGTTAGATTGT
ACAGATAGACCTGTTCTTCAGGCCATTTTTCTTAACAGCAATTGCTTTGAACATCTCATACGACTGCTACAGAACTGCAAGGTGTTTCAG
GGACAATTGGATTGTTTGGCCATATCAACCATTCAGGCTTTGACCGCAGTAATGAACAAATCTCCAGCTGCTAAGGAAGTATTTAAAGAA
AGAATTGGTTATACACATATGCTTGAAGTATTAAAATCCCTGGGTCAGCCACCACTGGAATTACTTAAAGAACTTATGAATATGGCTGTA
GAGGGTGACCACACTTCAGTTGGGATTTTGGGCATTAGTAATGTCCAACCTCTCTTGCTTCTTATCCAGTGGCTTCCAGAACTACAATCC
CATGACCTGCAAATCTTCATCTCTGATTGGCTGAAAAGAATTTGTTGTATTAATAGACAGAGTCGAACTACTTGTGTCAATGCAAACATG
GGGATTAGAATCATTGAAACCCTTGACTTGCATTCTTCCCTCCATCAAACTTGTGCTGAGAACTTGATTGCAATCCATGGTTCCTTGGGG
AGTCAGTCAGTGAGCTCAGAAGAAATCCGTCGACTACTGAGATTGCTGAGAGTGGATGAATCTGAGTCTGTTCACCCTTATGTCACTCCC
GTGACTCGAGCAATCCTGACAATGGCCCGAAAACTAAGTCTAGAGAGTGCCCTCCAGTATTTCAATTTGTCACATAGTATGGCAGGAATT
TCTGTGCCTCCCATACAGAAATGGCCAGGGTCTGCCTTTTCTTTCAGTGCTTGGTTTTGCTTAGACCAGGATCAGTTGACTCTTGGCATT
GCTAACAAAGGAGGGAAAAGGAAACAATTGTACAGTTTTTTTACAGGAAGTGGCATGGGTTTTGAAGCCTTTATTACCCATTCAGGTATG
TTGGTCGTGGCAGTGTGCACAAAAAGAGAATATGCAACGGTTATGCTTCCTGACCACAGTTTCTGTGATTCCCTCTGGCTTTCAGAAGAA
TTATTAGATAAATGGCTCTCCTACCCAGAGACCCAGCACGTGCCCCTCAGCCAGCATATGCTTGGTTTTGCTATGAAGTCTGTTACACAG
ATGGTAATGGGTAGTACATTTGAAGATGATCAGGAAGTCATTCGCTTCCAGAAGAATCATGGCACAGTTTGGTCTGAGATTGGAAAAGGC
TTTCTAGATGGGTCACTTGATAAAAACATGACTCGGAAAAAACAATATGAAGATGCCCTCATGCAACTGGAGTCTGTTTTAAGGAACATC
ATAAAAGAACGAAAAGGAAGGAACTTCAGTCAACATATTTTCATTGACTCCTTAGTACAAGGGAACCTTAATGACCAACAGATCCTAGAA
GACAGTATGATATTTTCTCTGGCCAGTTGCATAATAACTGCAAAATTGTGTACCTGGGCAATCTGTTTTTTAACCACCTCTGAAGAAGTT
CAAAAAAAATTATATGAAGAGATAAACCAAGTTTTTGGAAATGGTCCTGTTACTCCAGAGAAAATTGAGCAGCTCAGATATTGTCAGCAT
GTGCTTTGTGAAACTGTTCGAACTGCCAAACTGACTCCAGTTTCTGCCCAGCTTCAAGATATTGAAGGAAAAATTGACCGATTTATTATT
CCTAGAGAGACCCTCGTCCTTTATGCCCTTGGTGTGGTACTTCAGGATCCTAATACTTGGCCATCTCCACACAAGTTTGATCCAGATCGG
TTTGATGATGAATTAGTAATGAAAACTTTTTCCTCACTTGGATTCTCAGGCACACAGGAGTGTCCAGAGTTGAGGTTTGCATATATGGTG
ACCACAGTACTTCTTAGTGTATTGGTGAAGAGACTGCACCTACTTTCTGTGGAGGGACAGGTTATTGAAACAAAGTATGAACTGGTAACA
TCATCAAGGGAAGAAGCTTGGATCACTGTCTCAAAGAGATATTAAAATTTTATACATTTAAAATCATTGTTAAATTGATTGAGGAAAACA
ACCATTTAAAAAAAATCTATGTTGAATCCTTTTATAAACCAGTATCACTTTGTAATATAAACACCTATTTGTACTTAATTTTGTAAATTT
GGATTTTTATATATCATATTTTCTTAATTCATTGTACACATTTGACTTACTGCACAGTATATTGATCATTTTAATGGGAAACTTTAGCTT
TCTACTTTTTATTTTTGTTTTTTCACTTTCTATGCCATTATTTTTGTATTCTTTTTCTTAGTGTGAGCTCTAAAATCAATGTTCTTGAAA
AAGAAATTATTTTGCAGAAGTTGGGGAATCATGTTTGTTGAATATGTATAAAATAGAAACATAGGCTGGGCGCGGTGGCTCACACCTGTA

>57410_57410_1_NBEAL1-CYP20A1_NBEAL1_chr2_203975005_ENST00000449802_CYP20A1_chr2_204131237_ENST00000356079_length(amino acids)=983AA_BP=0
MASRERLFELWMLYCTKKDPDYLKLWLDTFVSSYEQFLDVDFEKLPTRVDDMPPGISLLPDNILQVLRIQLLQCVQKMADGLEEQQQALS
ILLVKFFIILCRNLSNVEEIGTCSYINYVITMTTLYIQQLKSKKKEKEMADQTCIEEFVIHALAFCESLYDPYRNWRHRISGRILSTVEK
SRQKYKPASLTVEFVPFFYQCFQESEHLKESLKCCLLHLFGAIVAGGQRNALQAISPATMEVLMRVLADCDSWEDGDPEEVGRKAELTLK
CLTEVVHILLSSNSDQRQVETSTILENYFKLLNSDHSALPNQRRSRQWENRFIALQIKMLNTITAMLDCTDRPVLQAIFLNSNCFEHLIR
LLQNCKVFQGQLDCLAISTIQALTAVMNKSPAAKEVFKERIGYTHMLEVLKSLGQPPLELLKELMNMAVEGDHTSVGILGISNVQPLLLL
IQWLPELQSHDLQIFISDWLKRICCINRQSRTTCVNANMGIRIIETLDLHSSLHQTCAENLIAIHGSLGSQSVSSEEIRRLLRLLRVDES
ESVHPYVTPVTRAILTMARKLSLESALQYFNLSHSMAGISVPPIQKWPGSAFSFSAWFCLDQDQLTLGIANKGGKRKQLYSFFTGSGMGF
EAFITHSGMLVVAVCTKREYATVMLPDHSFCDSLWLSEELLDKWLSYPETQHVPLSQHMLGFAMKSVTQMVMGSTFEDDQEVIRFQKNHG
TVWSEIGKGFLDGSLDKNMTRKKQYEDALMQLESVLRNIIKERKGRNFSQHIFIDSLVQGNLNDQQILEDSMIFSLASCIITAKLCTWAI
CFLTTSEEVQKKLYEEINQVFGNGPVTPEKIEQLRYCQHVLCETVRTAKLTPVSAQLQDIEGKIDRFIIPRETLVLYALGVVLQDPNTWP

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Fusion Gene PPI Analysis for NBEAL1-CYP20A1


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 NBEAL1-CYP20A1


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 NBEAL1-CYP20A1


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