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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:SPTBN4-RAD51B (FusionGDB2 ID:86155)

Fusion Gene Summary for SPTBN4-RAD51B

check button Fusion gene summary
Fusion gene informationFusion gene name: SPTBN4-RAD51B
Fusion gene ID: 86155
HgeneTgene
Gene symbol

SPTBN4

RAD51B

Gene ID

57731

5890

Gene namespectrin beta, non-erythrocytic 4RAD51 paralog B
SynonymsCMND|NEDHND|QV|SPNB4|SPTBN3R51H2|RAD51L1|REC2
Cytomap

19q13.2

14q24.1

Type of geneprotein-codingprotein-coding
Descriptionspectrin beta chain, non-erythrocytic 4beta-IV spectrinspectrin beta chain, brain 3spectrin, non-erythroid beta chain 3DNA repair protein RAD51 homolog 2RAD51 homolog BRecA-like proteinrecombination repair protein
Modification date2020031320200313
UniProtAcc.

O15315

Ensembl transtripts involved in fusion geneENST00000338932, ENST00000344104, 
ENST00000598249, ENST00000352632, 
ENST00000392023, ENST00000392025, 
ENST00000593816, ENST00000595535, 
ENST00000390683, ENST00000471583, 
ENST00000487270, ENST00000487861, 
ENST00000488612, ENST00000469165, 
Fusion gene scores* DoF score6 X 5 X 5=15041 X 23 X 12=11316
# samples 656
** MAII scorelog2(6/150*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(56/11316*10)=-4.33679344445129
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SPTBN4 [Title/Abstract] AND RAD51B [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSPTBN4(40973212)-RAD51B(68758601), # samples:2
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 SPTBN4 (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 RAD51B (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
ChimerDB4LIHCTCGA-DD-AACV-01ASPTBN4chr19

40973212

-RAD51Bchr14

68758601

+
ChimerDB4LIHCTCGA-DD-AACV-01ASPTBN4chr19

40973212

+RAD51Bchr14

68758601

+


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Fusion Gene ORF analysis for SPTBN4-RAD51B

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-3CDSENST00000338932ENST00000390683SPTBN4chr19

40973212

+RAD51Bchr14

68758601

+
5UTR-3CDSENST00000338932ENST00000471583SPTBN4chr19

40973212

+RAD51Bchr14

68758601

+
5UTR-3CDSENST00000338932ENST00000487270SPTBN4chr19

40973212

+RAD51Bchr14

68758601

+
5UTR-3CDSENST00000338932ENST00000487861SPTBN4chr19

40973212

+RAD51Bchr14

68758601

+
5UTR-3CDSENST00000338932ENST00000488612SPTBN4chr19

40973212

+RAD51Bchr14

68758601

+
5UTR-3CDSENST00000344104ENST00000390683SPTBN4chr19

40973212

+RAD51Bchr14

68758601

+
5UTR-3CDSENST00000344104ENST00000471583SPTBN4chr19

40973212

+RAD51Bchr14

68758601

+
5UTR-3CDSENST00000344104ENST00000487270SPTBN4chr19

40973212

+RAD51Bchr14

68758601

+
5UTR-3CDSENST00000344104ENST00000487861SPTBN4chr19

40973212

+RAD51Bchr14

68758601

+
5UTR-3CDSENST00000344104ENST00000488612SPTBN4chr19

40973212

+RAD51Bchr14

68758601

+
5UTR-3CDSENST00000598249ENST00000390683SPTBN4chr19

40973212

+RAD51Bchr14

68758601

+
5UTR-3CDSENST00000598249ENST00000471583SPTBN4chr19

40973212

+RAD51Bchr14

68758601

+
5UTR-3CDSENST00000598249ENST00000487270SPTBN4chr19

40973212

+RAD51Bchr14

68758601

+
5UTR-3CDSENST00000598249ENST00000487861SPTBN4chr19

40973212

+RAD51Bchr14

68758601

+
5UTR-3CDSENST00000598249ENST00000488612SPTBN4chr19

40973212

+RAD51Bchr14

68758601

+
5UTR-3UTRENST00000338932ENST00000469165SPTBN4chr19

40973212

+RAD51Bchr14

68758601

+
5UTR-3UTRENST00000344104ENST00000469165SPTBN4chr19

40973212

+RAD51Bchr14

68758601

+
5UTR-3UTRENST00000598249ENST00000469165SPTBN4chr19

40973212

+RAD51Bchr14

68758601

+
intron-3CDSENST00000352632ENST00000390683SPTBN4chr19

40973212

+RAD51Bchr14

68758601

+
intron-3CDSENST00000352632ENST00000471583SPTBN4chr19

40973212

+RAD51Bchr14

68758601

+
intron-3CDSENST00000352632ENST00000487270SPTBN4chr19

40973212

+RAD51Bchr14

68758601

+
intron-3CDSENST00000352632ENST00000487861SPTBN4chr19

40973212

+RAD51Bchr14

68758601

+
intron-3CDSENST00000352632ENST00000488612SPTBN4chr19

40973212

+RAD51Bchr14

68758601

+
intron-3CDSENST00000392023ENST00000390683SPTBN4chr19

40973212

+RAD51Bchr14

68758601

+
intron-3CDSENST00000392023ENST00000471583SPTBN4chr19

40973212

+RAD51Bchr14

68758601

+
intron-3CDSENST00000392023ENST00000487270SPTBN4chr19

40973212

+RAD51Bchr14

68758601

+
intron-3CDSENST00000392023ENST00000487861SPTBN4chr19

40973212

+RAD51Bchr14

68758601

+
intron-3CDSENST00000392023ENST00000488612SPTBN4chr19

40973212

+RAD51Bchr14

68758601

+
intron-3CDSENST00000392025ENST00000390683SPTBN4chr19

40973212

+RAD51Bchr14

68758601

+
intron-3CDSENST00000392025ENST00000471583SPTBN4chr19

40973212

+RAD51Bchr14

68758601

+
intron-3CDSENST00000392025ENST00000487270SPTBN4chr19

40973212

+RAD51Bchr14

68758601

+
intron-3CDSENST00000392025ENST00000487861SPTBN4chr19

40973212

+RAD51Bchr14

68758601

+
intron-3CDSENST00000392025ENST00000488612SPTBN4chr19

40973212

+RAD51Bchr14

68758601

+
intron-3CDSENST00000593816ENST00000390683SPTBN4chr19

40973212

+RAD51Bchr14

68758601

+
intron-3CDSENST00000593816ENST00000471583SPTBN4chr19

40973212

+RAD51Bchr14

68758601

+
intron-3CDSENST00000593816ENST00000487270SPTBN4chr19

40973212

+RAD51Bchr14

68758601

+
intron-3CDSENST00000593816ENST00000487861SPTBN4chr19

40973212

+RAD51Bchr14

68758601

+
intron-3CDSENST00000593816ENST00000488612SPTBN4chr19

40973212

+RAD51Bchr14

68758601

+
intron-3CDSENST00000595535ENST00000390683SPTBN4chr19

40973212

+RAD51Bchr14

68758601

+
intron-3CDSENST00000595535ENST00000471583SPTBN4chr19

40973212

+RAD51Bchr14

68758601

+
intron-3CDSENST00000595535ENST00000487270SPTBN4chr19

40973212

+RAD51Bchr14

68758601

+
intron-3CDSENST00000595535ENST00000487861SPTBN4chr19

40973212

+RAD51Bchr14

68758601

+
intron-3CDSENST00000595535ENST00000488612SPTBN4chr19

40973212

+RAD51Bchr14

68758601

+
intron-3UTRENST00000352632ENST00000469165SPTBN4chr19

40973212

+RAD51Bchr14

68758601

+
intron-3UTRENST00000392023ENST00000469165SPTBN4chr19

40973212

+RAD51Bchr14

68758601

+
intron-3UTRENST00000392025ENST00000469165SPTBN4chr19

40973212

+RAD51Bchr14

68758601

+
intron-3UTRENST00000593816ENST00000469165SPTBN4chr19

40973212

+RAD51Bchr14

68758601

+
intron-3UTRENST00000595535ENST00000469165SPTBN4chr19

40973212

+RAD51Bchr14

68758601

+

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 SPTBN4-RAD51B


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)
SPTBN4chr1940973212+RAD51Bchr1468758600+1.46E-111
SPTBN4chr1940973212+RAD51Bchr1468758600+1.46E-111

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 SPTBN4-RAD51B


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/:40973212/:68758601)
- 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
.RAD51B

O15315

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: Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents. May promote the assembly of presynaptic RAD51 nucleoprotein filaments. Binds single-stranded DNA and double-stranded DNA and has DNA-dependent ATPase activity. Part of the RAD21 paralog protein complex BCDX2 which acts in the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage, BCDX2 acts downstream of BRCA2 recruitment and upstream of RAD51 recruitment. BCDX2 binds predominantly to the intersection of the four duplex arms of the Holliday junction and to junction of replication forks. The BCDX2 complex was originally reported to bind single-stranded DNA, single-stranded gaps in duplex DNA and specifically to nicks in duplex DNA. The BCDX2 subcomplex RAD51B:RAD51C exhibits single-stranded DNA-dependent ATPase activity suggesting an involvement in early stages of the HR pathway. {ECO:0000269|PubMed:11751635, ECO:0000269|PubMed:11751636, ECO:0000269|PubMed:11842113, ECO:0000269|PubMed:12441335, ECO:0000269|PubMed:23108668, ECO:0000269|PubMed:23149936}.

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 SPTBN4-RAD51B


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 SPTBN4-RAD51B


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 SPTBN4-RAD51B


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 SPTBN4-RAD51B


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