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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:AZIN1-YJEFN3 (FusionGDB2 ID:HG51582TG374887)

Fusion Gene Summary for AZIN1-YJEFN3

check button Fusion gene summary
Fusion gene informationFusion gene name: AZIN1-YJEFN3
Fusion gene ID: hg51582tg374887
HgeneTgene
Gene symbol

AZIN1

YJEFN3

Gene ID

51582

374887

Gene nameantizyme inhibitor 1YjeF N-terminal domain containing 3
SynonymsAZI|AZI1|AZIA1|OAZI|OAZIN|ODC1L-
Cytomap('AZIN1')('YJEFN3')

8q22.3

19p13.11

Type of geneprotein-codingprotein-coding
Descriptionantizyme inhibitor 1ornithine decarboxylase antizyme inhibitoryjeF N-terminal domain-containing protein 3apolipoprotein A1 binding proteinhYjeF_N3hYjeF_N3-19p13.11yjeF_N3
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000337198, ENST00000347770, 
ENST00000522311, 
ENST00000522311, 
ENST00000337198, ENST00000347770, 
Fusion gene scores* DoF score18 X 12 X 9=19443 X 2 X 3=18
# samples 193
** MAII scorelog2(19/1944*10)=-3.35495689527483
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: AZIN1 [Title/Abstract] AND YJEFN3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAZIN1(103848484)-YJEFN3(19636991), # samples:1
Anticipated loss of major functional domain due to fusion event.AZIN1-YJEFN3 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
AZIN1-YJEFN3 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
AZIN1-YJEFN3 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
AZIN1-YJEFN3 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
AZIN1-YJEFN3 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
YJEFN3-AZIN1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
YJEFN3-AZIN1 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
YJEFN3-AZIN1 seems lost the major protein functional domain in Tgene partner, which is a essential gene 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
HgeneAZIN1

GO:0042177

negative regulation of protein catabolic process

17900240

HgeneAZIN1

GO:1902269

positive regulation of polyamine transmembrane transport

18508777


check buttonFusion gene breakpoints across AZIN1 (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 YJEFN3 (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
* 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
ChimerDB4ESCATCGA-V5-A7RBAZIN1chr8

103848484

-YJEFN3chr19

19636991

+


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Fusion Gene ORF analysis for AZIN1-YJEFN3

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-intronENST00000337198ENST00000436027AZIN1chr8

103848484

-YJEFN3chr19

19636991

+
5CDS-intronENST00000337198ENST00000514277AZIN1chr8

103848484

-YJEFN3chr19

19636991

+
5CDS-intronENST00000347770ENST00000436027AZIN1chr8

103848484

-YJEFN3chr19

19636991

+
5CDS-intronENST00000347770ENST00000514277AZIN1chr8

103848484

-YJEFN3chr19

19636991

+
Frame-shiftENST00000347770ENST00000608404AZIN1chr8

103848484

-YJEFN3chr19

19636991

+
In-frameENST00000337198ENST00000608404AZIN1chr8

103848484

-YJEFN3chr19

19636991

+
intron-3CDSENST00000522311ENST00000608404AZIN1chr8

103848484

-YJEFN3chr19

19636991

+
intron-intronENST00000522311ENST00000436027AZIN1chr8

103848484

-YJEFN3chr19

19636991

+
intron-intronENST00000522311ENST00000514277AZIN1chr8

103848484

-YJEFN3chr19

19636991

+

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)
ENST00000337198AZIN1chr8103848484-ENST00000608404YJEFN3chr1919636991+2742174817382475245

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
ENST00000337198ENST00000608404AZIN1chr8103848484-YJEFN3chr1919636991+0.03143340.9685666

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Fusion Genomic Features for AZIN1-YJEFN3


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)
AZIN1chr8103848483-YJEFN3chr1919636990+0.0099842160.9900158
AZIN1chr8103848483-YJEFN3chr1919636990+0.0099842160.9900158

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 AZIN1-YJEFN3


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/chr8:103848484/chr19:19636991)
- 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
TgeneYJEFN3chr8:103848484chr19:19636991ENST000004360270674_2870250.0DomainYjeF N-terminal
TgeneYJEFN3chr8:103848484chr19:19636991ENST000005142770774_2870300.0DomainYjeF N-terminal

- 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 AZIN1-YJEFN3


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.
>8609_8609_1_AZIN1-YJEFN3_AZIN1_chr8_103848484_ENST00000337198_YJEFN3_chr19_19636991_ENST00000608404_length(transcript)=2742nt_BP=1748nt
ATCACCGAGGGCGGGCGCCTCAGCCCGGGAGGACACTCCCCAGGGTAAACTACAGGCCTCACAAAGCGGAGGGAGCTGGACGCGAAGGCT
CGGCAGCGGCGCCGACAGGCTTACCCCAGGCCCACTCTAGGCCGCACAGGGTTCGCGCCACCTCCGGCCCAGGACAGCTCTCAGACGCTG
CCAGCGTGGAGCTCGACCCGGCTCACAATGCGCTGGGCCCCGCAGCGTGAGCGCAGGCGCCCGAGAGGCGGCGGGGGTCGGGCGGACGGC
GCGCTCCAGCCGAGCCGCCTCCCTCTCTCGGCCCACACCCGCGCGGCCGCCCTTCGCCTGCCGGGGAGCTGCGGGTGGCTGGAGGGCGGG
AAGCGACCGGCCAGTCTGCACCTGCATGACCCGGTCGCGCGCCGACCCCTCCCCTCTCTCTCCCGGGCTCAGTCCTCCTTCCTCTTCCGT
CCCCCTCCCTTTTCTCCGGGCTGCAACCGGGTTCCGCCCCGCTCGCGCGGCTGCCCGGCCAGCTGTGATGTCACCAGGCCACGCCCCCTA
ATATAAATACTGGCGTCGCTGGCGCCGCCTTCTCACACTTTCAGGCTCTGATCGCGGCCGCAGTTTTTCCTTTTTTCTTCTGCCGTCGCC
TTCTCTGCCTCTTCTCATCCTTTCTCGCTCTGCTGCTCTGCAGTGTGACGAGTCCGAATCCTCTTCCCACCCAGCCCGCGCCTTTCTTCT
TTTGCCTGCGCTGTTCTATTTCTCCTTCGGCCGCCGCCGCCACTGCTGCACACAGCTGGTGTCGGTGCCGCGCTTTTACCCCCAAGTCGT
TCCCGCAGCCTATGGCCCAGGCCGCCTTGGGTATTTCTGCTCAAGGTAACCACATCCCTCTTTAAAAATTCCGCCGAAAAAGAGAAGACG
CTTTACCCGACTCTTTGGGCCGTTATCTCACGGCGAACTTTCTGACCAAGTATACAACTACCCAGAGGGCCTAGGAGAAGTGCTGTATAG
AGAGCAGTTCGACTTCAACGCTGAGCCACCTTGGGAACCTAGCTGATGATAGGGGGGTTCCATCTCCCAACTTGTCCATTTTGTTGCATA
TTCTAAGGACCCAGACATAGGCTTGGTGGCCCGTCTCTTGTCTTTCCTGGTTTATGACTTTCGGCTTTGTGGAATACGGCTGAGATGAAA
GGATTTATTGATGATGCAAACTACTCCGTTGGCCTGTTGGATGAAGGAACAAACCTTGGAAATGTTATTGATAACTATGTTTATGAACAT
ACCCTGACAGGGAAAAATGCATTTTTTGTGGGAGATCTTGGAAAGATTGTGAAGAAACACAGTCAATGGCAGAATGTAGTGGCTCAGATA
AAGCCATTCTACACAGTGAAGTGCAACTCTGCTCCAGCTGTACTTGAGATTTTGGCAGCTCTTGGAACCGGATTTGCTTGTTCCAGTAAA
AATGAAATGGCTTTAGTGCAAGAGTTGGGTGTACCTCCAGAAAACATTATTTACATAAGTCCTTGCAAGCAAGTGTCTCAGATAAAGTAT
GCAGCAAAAGTTGGAGTGAATATCCTGACATGTGACAATGAAATTGAATTGAAGAAAATTGCACGTAATCACCCAAATGCCAAGGTCTTA
CTACATATTGCAACAGAAGATAATATTGGAGGTGAAGAGGGTAACATGAAGTTTGGCACTACCCTGAAGAACTGTAGGCATCTCTTGGAA
TGTGCTAAGGAACTTGATGTCCAAATAATTGGGGTTAAGCTACAGCATGCTGGCCATAGGGATTGGAACCCTGATCTACGGGCACTGGAG
CATAATGAAGTGGAACCGTGAGCGCAGGCGCCTACAAATCGAGGACTTCGAGGCTCGCATCGCGCTGTTGCCACTGTTACAGGCAGAAAC
CGACCGGAGGACCTTGCAGATGCTTCGGGAGAACCTGGAGGAGGAGGCCATCATCATGAAGGACGTGCCCGACTGGAAGGCGTTCCCGTT
GCCCGCTCTCTCCCGGAAGCAGAGGACGGTGCTGGTCGTGTGTGGCCCGGAGCAGAACGGGGCAGTGGGGCTGGTCTGTGCCCGGCACCT
GCGGGTGTTTGAGTATGAACCCACCATCTTCTACCCCACACGCTCGCTGGACCTGCTGCATCGGGACCTGACCACCCAGTGCGAGAAGAT
GGACATCCCCTTCCTGAGCTACCTGCCCACTGAGGTGCAGCTCATTAACGAAGCCTATGGGCTGGTGGTGGATGCCGTACTGGGCCCCGG
CGTGGAGCCGGGCGAGGTCGGGGGCCCCTGCACCCGCGCGCTGGCCACGCTCAAGCTGCTGTCCATCCCCCTCGTGAGCCTGGACATCCC
CTCAGGCATGCCAGGCAGAGGGGGGCACATTGGGGCCTGGGGGGCTTGGGTGGAGGCCCCTGTGCCCCAGCTCCTGGTCGCCCCTGCCTG
TCTGAACCTCAATCTCCCCAGCTTGGATGGACCCACACTTGGCTGAGGCTAAGGGTCACACCCATCCCTCTGATGGGGAAGATCGAGGCT
GCCACCCCAGGTGACCCCAGGTCTCCTCTTTCCTCCACCCCAGTGCCCAGCCCACATGCCCTCTGCCCACCCCTGGCCCAGTTGCCTGGG
CAGACGTGAGCTCACTCGGCAAAGGCCGCGCCCGCCCTGGCTGCCGCCCCATGCCTGTTGGAACCATTAGGCGACAGGCAGACGGAACAA

>8609_8609_1_AZIN1-YJEFN3_AZIN1_chr8_103848484_ENST00000337198_YJEFN3_chr19_19636991_ENST00000608404_length(amino acids)=245AA_BP=4
MGLSYSMLAIGIGTLIYGHWSIMKWNRERRRLQIEDFEARIALLPLLQAETDRRTLQMLRENLEEEAIIMKDVPDWKAFPLPALSRKQRT
VLVVCGPEQNGAVGLVCARHLRVFEYEPTIFYPTRSLDLLHRDLTTQCEKMDIPFLSYLPTEVQLINEAYGLVVDAVLGPGVEPGEVGGP

--------------------------------------------------------------

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Fusion Gene PPI Analysis for AZIN1-YJEFN3


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 AZIN1-YJEFN3


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 AZIN1-YJEFN3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0005684Malignant neoplasm of urinary bladder1CTD_human
TgeneC0005695Bladder Neoplasm1CTD_human