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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:SBNO2-EFNA2 (FusionGDB2 ID:79356)

Fusion Gene Summary for SBNO2-EFNA2

check button Fusion gene summary
Fusion gene informationFusion gene name: SBNO2-EFNA2
Fusion gene ID: 79356
HgeneTgene
Gene symbol

SBNO2

EFNA2

Gene ID

22904

1943

Gene namestrawberry notch homolog 2ephrin A2
SynonymsKIAA0963|SNO|STNOELF-1|EPLG6|HEK7-L|LERK-6|LERK6
Cytomap

19p13.3

19p13.3

Type of geneprotein-codingprotein-coding
Descriptionprotein strawberry notch homolog 2ephrin-A2HEK7 ligandeph-related receptor tyrosine kinase ligand 6
Modification date2020031320200313
UniProtAcc.

O43921

Ensembl transtripts involved in fusion geneENST00000361757, ENST00000587024, 
ENST00000438103, 
ENST00000215368, 
Fusion gene scores* DoF score29 X 15 X 16=69605 X 5 X 3=75
# samples 385
** MAII scorelog2(38/6960*10)=-4.19501598240514
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SBNO2 [Title/Abstract] AND EFNA2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSBNO2(1147307)-EFNA2(1298549), # 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
HgeneSBNO2

GO:0071354

cellular response to interleukin-6

25903009


check buttonFusion gene breakpoints across SBNO2 (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 EFNA2 (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
ChimerDB4STADTCGA-VQ-A8E2SBNO2chr19

1147307

-EFNA2chr19

1298549

+


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Fusion Gene ORF analysis for SBNO2-EFNA2

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
In-frameENST00000361757ENST00000215368SBNO2chr19

1147307

-EFNA2chr19

1298549

+
In-frameENST00000587024ENST00000215368SBNO2chr19

1147307

-EFNA2chr19

1298549

+
intron-3CDSENST00000438103ENST00000215368SBNO2chr19

1147307

-EFNA2chr19

1298549

+

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)
ENST00000361757SBNO2chr191147307-ENST00000215368EFNA2chr191298549+219151711241672182
ENST00000587024SBNO2chr191147307-ENST00000215368EFNA2chr191298549+216449010971645182

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
ENST00000361757ENST00000215368SBNO2chr191147307-EFNA2chr191298549+0.55820430.44179568
ENST00000587024ENST00000215368SBNO2chr191147307-EFNA2chr191298549+0.50102810.49897188

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Fusion Genomic Features for SBNO2-EFNA2


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)
SBNO2chr191147307-EFNA2chr191298549+0.0015878350.99841213
SBNO2chr191147307-EFNA2chr191298549+0.0015878350.99841213

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 SBNO2-EFNA2


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/chr19:1147307/chr19:1298549)
- 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
.EFNA2

O43921

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: Cell surface GPI-bound ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Binds promiscuously Eph receptors residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. With the EPHA2 receptor may play a role in bone remodeling through regulation of osteoclastogenesis and osteoblastogenesis (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
HgeneSBNO2chr19:1147307chr19:1298549ENST00000361757-4321234_1294931367.0Compositional biasNote=Pro-rich
HgeneSBNO2chr19:1147307chr19:1298549ENST00000361757-432183_195931367.0Compositional biasNote=Poly-Glu
HgeneSBNO2chr19:1147307chr19:1298549ENST00000438103-1291234_129401310.0Compositional biasNote=Pro-rich
HgeneSBNO2chr19:1147307chr19:1298549ENST00000438103-129183_19501310.0Compositional biasNote=Poly-Glu
TgeneEFNA2chr19:1147307chr19:1298549ENST000002153681434_174151214.0DomainEphrin RBD


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Fusion Gene Sequence for SBNO2-EFNA2


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.
>79356_79356_1_SBNO2-EFNA2_SBNO2_chr19_1147307_ENST00000361757_EFNA2_chr19_1298549_ENST00000215368_length(transcript)=2191nt_BP=517nt
GTGCGCGGGGCCCCCAAGATGGCGCCCGAAACCCGGAAGTGAGCGGCGGCAGCTGCGAGGCTCGGAGAAACAGGCGCCGCGGGCTCCGCG
CCCGGCCGGACCCGGGCCCGAGATCATGATGCTGCCGCCACCGCCGCCACCACGGAGCGAGAAGCCCAGATAGACGCCCCGGCGGCCCCG
GGTCCTGGAGTCCCGCCGCCTGCTGCCCGGCCGAGGACCCCACCCCGCCTGCCGCCCGATGCTTGCAGTGGGGCCCGCCATGGACAGGGA
TTACCCGCAGCATGAACCCCCGCCGGCGGGCAGCCTCCTGTACAGCCCGCCGCCCCTGCAGAGCGCCATGCTGCACTGCCCCTACTGGAA
CACCTTCTCGCTGCCGCCATACCCTGCCTTCTCCAGCGACAGCCGCCCGTTCATGAGCTCCGCCTCCTTCCTCGGCAGCCAGCCCTGCCC
AGACACCAGCTATGCCCCCGTGGCCACCGCCTCCAGCTTGCCACCAAAGACCTGCGACTTTGCTCAGCTGCCACGCCTCCCAATGCTGTG
GACCGGCCCTGCCTGCGACTGAAGGTGTACGTGCGGCCGACCAACGAGACCCTGTACGAGGCTCCTGAGCCCATCTTCACCAGCAATAAC
TCGTGTAGCAGCCCGGGCGGCTGCCGCCTCTTCCTCAGCACCATCCCCGTGCTCTGGACCCTCCTGGGTTCCTAGTCCCAGCCCCGCAGG
ACGCCGACCCTGCCTGGACGGCCCCGCCTGGACCGCCTGACCTCGGCCCTCCGGACCCGGCTGCGGCCCCCGCCTCCGAGACCAAATAGA
GACGCTGCTTCTCCCTCGCCTGGTGCCGCCCCCGCCGGGCAGGGGCCATCCACCCGCCCCAGGACCAGCCCTCAGGGAGGGGAAACGGCC
GAGAGCCCCCCCCCGGAGGCCCGAGGGGCCGGGGTGTGGATGCGGACCGTGGCCAGGCCATCTCCTCTGGGGCGTCGGAGAACCCGGGAA
CCTCTTGGCGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGTGTATTTTTCGTGGTTGGATCAAAAAGACTTGAGTTTTTAAT
TTAATTTATTCCCTGCCGTTGTAGCGGGGCGGGGTCCCTGTGCCCTGGCCTGGGGGAGGGGAACGCGGAACATGGGGTCGGGAACACAGC
CGCTCCCCTCTGCTCTGCACCCCACTCGTGGGGGAACACAGCCGCTCCCCTCTGCTCTGCACCCCACTCGTGGGGGAACACAGCCGCTCC
CCTCTGCTCTGCACCCCACTCGTGGGGGAACACAGCCGCTCCCCTCTGCTCTGCACCCCACTCGTGGGGGAACACAGCTGCAGCCCACCG
CGGACCCCCCTGGTGCTCCAGGTTGGGTGAGTCTGAGCCGGAAGGGGTACGTGGTGGGCGCCCCTCATTGTGGCTGGGGAGACCTCATAC
CCCATCGCCCACCCCCGTCCTCCTGGTCATTTCCTCCCAGACACTGTTTTGCCCCAGCGCCCTTCGGAATCACAGTCCCGCCGTGTCTTA
GAAACTGCTTTGGCCGATGCAAACAGCCCCCTACCCGTCCCCCTCGCCTCACACGGTCCCTCTCCGAGGCCGAGAAGACCTTCTGTTCCT
GTAAATACAGCCAGCAAGTGCAAACTGTGATTTTATTTTCCACGTATTCCTGAGGACGGACTGGACCGTCTATGTTTTTTCAGCCCTTCA
TAGGGGGTCTTTTATTTTGGTGGGGGGGTGGGGTGGACTTTTAGAGTAGAAGCTGCACTTGGCAATAAGCTCGTGTCGTCTGTCAGAGCC
CCTCTCTCAACTCTGTGACCTGATAATGTTTCTAAGAAAAAGAAAAAAAGGACAAAAGGGAGGGAACCACTACCAAAAAAAAAAAAAGAA
ACTCCTCCCCGAAGACACTTTAATGAAGGAAACAACACATTTATACGGATTTCATATTTCTACCCGCCTTTCCTGACTCTGTGTTTTATA
TATATTATATATAAATATATATTGTGTACGGCCGCCGGCCGGCGGCTCGAGGCACGCCCGGTGGTGGGGGGTGGGCAGAGGGCTTTTGTA
GGGGGTCGGCGGGGCGGGCCGCGTTGCCAGGCCTGGAGCTGGCGACCGGGCCTCCCTCTTCCCGTCACAATCAACTTTGGATTCTGTATT

>79356_79356_1_SBNO2-EFNA2_SBNO2_chr19_1147307_ENST00000361757_EFNA2_chr19_1298549_ENST00000215368_length(amino acids)=182AA_BP=
MAWGRGTRNMGSGTQPLPSALHPTRGGTQPLPSALHPTRGGTQPLPSALHPTRGGTQPLPSALHPTRGGTQLQPTADPPGAPGWVSLSRK
GYVVGAPHCGWGDLIPHRPPPSSWSFPPRHCFAPAPFGITVPPCLRNCFGRCKQPPTRPPRLTRSLSEAEKTFCSCKYSQQVQTVILFST

--------------------------------------------------------------
>79356_79356_2_SBNO2-EFNA2_SBNO2_chr19_1147307_ENST00000587024_EFNA2_chr19_1298549_ENST00000215368_length(transcript)=2164nt_BP=490nt
GAAACCCGGAAGTGAGCGGCGGCAGCTGCGAGGCTCGGAGAAACAGGCGCCGCGGGCTCCGCGCCCGGCCGGACCCGGGCCCGAGATCAT
GATGCTGCCGCCACCGCCGCCACCACGGAGCGAGAAGCCCAGATAGACGCCCCGGCGGCCCCGGGTCCTGGAGTCCCGCCGCCTGCTGCC
CGGCCGAGGACCCCACCCCGCCTGCCGCCCGATGCTTGCAGTGGGGCCCGCCATGGACAGGGATTACCCGCAGCATGAACCCCCGCCGGC
GGGCAGCCTCCTGTACAGCCCGCCGCCCCTGCAGAGCGCCATGCTGCACTGCCCCTACTGGAACACCTTCTCGCTGCCGCCATACCCTGC
CTTCTCCAGCGACAGCCGCCCGTTCATGAGCTCCGCCTCCTTCCTCGGCAGCCAGCCCTGCCCAGACACCAGCTATGCCCCCGTGGCCAC
CGCCTCCAGCTTGCCACCAAAGACCTGCGACTTTGCTCAGCTGCCACGCCTCCCAATGCTGTGGACCGGCCCTGCCTGCGACTGAAGGTG
TACGTGCGGCCGACCAACGAGACCCTGTACGAGGCTCCTGAGCCCATCTTCACCAGCAATAACTCGTGTAGCAGCCCGGGCGGCTGCCGC
CTCTTCCTCAGCACCATCCCCGTGCTCTGGACCCTCCTGGGTTCCTAGTCCCAGCCCCGCAGGACGCCGACCCTGCCTGGACGGCCCCGC
CTGGACCGCCTGACCTCGGCCCTCCGGACCCGGCTGCGGCCCCCGCCTCCGAGACCAAATAGAGACGCTGCTTCTCCCTCGCCTGGTGCC
GCCCCCGCCGGGCAGGGGCCATCCACCCGCCCCAGGACCAGCCCTCAGGGAGGGGAAACGGCCGAGAGCCCCCCCCCGGAGGCCCGAGGG
GCCGGGGTGTGGATGCGGACCGTGGCCAGGCCATCTCCTCTGGGGCGTCGGAGAACCCGGGAACCTCTTGGCGATTTTTTTTTTTTTTTT
TTTTTTTTTTTTTTTTTTTAGTGTATTTTTCGTGGTTGGATCAAAAAGACTTGAGTTTTTAATTTAATTTATTCCCTGCCGTTGTAGCGG
GGCGGGGTCCCTGTGCCCTGGCCTGGGGGAGGGGAACGCGGAACATGGGGTCGGGAACACAGCCGCTCCCCTCTGCTCTGCACCCCACTC
GTGGGGGAACACAGCCGCTCCCCTCTGCTCTGCACCCCACTCGTGGGGGAACACAGCCGCTCCCCTCTGCTCTGCACCCCACTCGTGGGG
GAACACAGCCGCTCCCCTCTGCTCTGCACCCCACTCGTGGGGGAACACAGCTGCAGCCCACCGCGGACCCCCCTGGTGCTCCAGGTTGGG
TGAGTCTGAGCCGGAAGGGGTACGTGGTGGGCGCCCCTCATTGTGGCTGGGGAGACCTCATACCCCATCGCCCACCCCCGTCCTCCTGGT
CATTTCCTCCCAGACACTGTTTTGCCCCAGCGCCCTTCGGAATCACAGTCCCGCCGTGTCTTAGAAACTGCTTTGGCCGATGCAAACAGC
CCCCTACCCGTCCCCCTCGCCTCACACGGTCCCTCTCCGAGGCCGAGAAGACCTTCTGTTCCTGTAAATACAGCCAGCAAGTGCAAACTG
TGATTTTATTTTCCACGTATTCCTGAGGACGGACTGGACCGTCTATGTTTTTTCAGCCCTTCATAGGGGGTCTTTTATTTTGGTGGGGGG
GTGGGGTGGACTTTTAGAGTAGAAGCTGCACTTGGCAATAAGCTCGTGTCGTCTGTCAGAGCCCCTCTCTCAACTCTGTGACCTGATAAT
GTTTCTAAGAAAAAGAAAAAAAGGACAAAAGGGAGGGAACCACTACCAAAAAAAAAAAAAGAAACTCCTCCCCGAAGACACTTTAATGAA
GGAAACAACACATTTATACGGATTTCATATTTCTACCCGCCTTTCCTGACTCTGTGTTTTATATATATTATATATAAATATATATTGTGT
ACGGCCGCCGGCCGGCGGCTCGAGGCACGCCCGGTGGTGGGGGGTGGGCAGAGGGCTTTTGTAGGGGGTCGGCGGGGCGGGCCGCGTTGC
CAGGCCTGGAGCTGGCGACCGGGCCTCCCTCTTCCCGTCACAATCAACTTTGGATTCTGTATTTTTTTATAATAAAATGAGCATAAACCT

>79356_79356_2_SBNO2-EFNA2_SBNO2_chr19_1147307_ENST00000587024_EFNA2_chr19_1298549_ENST00000215368_length(amino acids)=182AA_BP=
MAWGRGTRNMGSGTQPLPSALHPTRGGTQPLPSALHPTRGGTQPLPSALHPTRGGTQPLPSALHPTRGGTQLQPTADPPGAPGWVSLSRK
GYVVGAPHCGWGDLIPHRPPPSSWSFPPRHCFAPAPFGITVPPCLRNCFGRCKQPPTRPPRLTRSLSEAEKTFCSCKYSQQVQTVILFST

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

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Fusion Gene PPI Analysis for SBNO2-EFNA2


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 SBNO2-EFNA2


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 SBNO2-EFNA2


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