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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:SNTB2-CIRH1A (FusionGDB2 ID:84823)

Fusion Gene Summary for SNTB2-CIRH1A

check button Fusion gene summary
Fusion gene informationFusion gene name: SNTB2-CIRH1A
Fusion gene ID: 84823
HgeneTgene
Gene symbol

SNTB2

CIRH1A

Gene ID

6645

84916

Gene namesyntrophin beta 2UTP4 small subunit processome component
SynonymsD16S2531E|EST25263|SNT2B2|SNT3|SNTLCIRH1A|CIRHIN|NAIC|TEX292
Cytomap

16q22.1

16q22.1

Type of geneprotein-codingprotein-coding
Descriptionbeta-2-syntrophin59 kDa dystrophin-associated protein A1 basic component 2dystrophin-associated protein A1, 59kD, basic component 2syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)syntrophin-3U3 small nucleolar RNA-associated protein 4 homologUTP4 small subunit (SSU) processome componentUTP4, small subunit (SSU) processome component, homologcirrhosis, autosomal recessive 1A (cirhin)testis expressed gene 292
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000528525, ENST00000336278, 
ENST00000314423, ENST00000352319, 
ENST00000563094, ENST00000569615, 
Fusion gene scores* DoF score12 X 13 X 10=15604 X 8 X 6=192
# samples 188
** MAII scorelog2(18/1560*10)=-3.11547721741994
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/192*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SNTB2 [Title/Abstract] AND CIRH1A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSNTB2(69221649)-CIRH1A(69196986), # samples:2
SNTB2(69221636)-CIRH1A(69187487), # samples:2
CIRH1A(69177292)-SNTB2(69304046), # samples:1
CIRH1A(69187583)-SNTB2(69333493), # 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
TgeneCIRH1A

GO:0006355

regulation of transcription, DNA-templated

19732766


check buttonFusion gene breakpoints across SNTB2 (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 CIRH1A (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
ChimerDB4KIRCTCGA-BP-4761-01ASNTB2chr16

69221649

-CIRH1Achr16

69196986

+
ChimerDB4KIRCTCGA-BP-4761-01ASNTB2chr16

69221649

+CIRH1Achr16

69196986

+
ChimerDB4LUADTCGA-35-4122-01ASNTB2chr16

69221649

-CIRH1Achr16

69177081

+
ChimerDB4LUSCTCGA-37-A5EL-01ASNTB2chr16

69221636

-CIRH1Achr16

69187487

+
ChimerDB4LUSCTCGA-37-A5ELSNTB2chr16

69221636

+CIRH1Achr16

69187487

+
ChimerDB4LUSCTCGA-37-A5ELSNTB2chr16

69221649

+CIRH1Achr16

69187487

+


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Fusion Gene ORF analysis for SNTB2-CIRH1A

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-3CDSENST00000528525ENST00000314423SNTB2chr16

69221649

+CIRH1Achr16

69196986

+
3UTR-3CDSENST00000528525ENST00000314423SNTB2chr16

69221649

-CIRH1Achr16

69177081

+
3UTR-3CDSENST00000528525ENST00000314423SNTB2chr16

69221636

+CIRH1Achr16

69187487

+
3UTR-3CDSENST00000528525ENST00000314423SNTB2chr16

69221649

+CIRH1Achr16

69187487

+
3UTR-3CDSENST00000528525ENST00000352319SNTB2chr16

69221649

+CIRH1Achr16

69196986

+
3UTR-3CDSENST00000528525ENST00000352319SNTB2chr16

69221649

-CIRH1Achr16

69177081

+
3UTR-3CDSENST00000528525ENST00000352319SNTB2chr16

69221636

+CIRH1Achr16

69187487

+
3UTR-3CDSENST00000528525ENST00000352319SNTB2chr16

69221649

+CIRH1Achr16

69187487

+
3UTR-3CDSENST00000528525ENST00000563094SNTB2chr16

69221649

+CIRH1Achr16

69196986

+
3UTR-3CDSENST00000528525ENST00000563094SNTB2chr16

69221649

-CIRH1Achr16

69177081

+
3UTR-3CDSENST00000528525ENST00000563094SNTB2chr16

69221636

+CIRH1Achr16

69187487

+
3UTR-3CDSENST00000528525ENST00000563094SNTB2chr16

69221649

+CIRH1Achr16

69187487

+
3UTR-3UTRENST00000528525ENST00000569615SNTB2chr16

69221649

-CIRH1Achr16

69177081

+
3UTR-intronENST00000528525ENST00000569615SNTB2chr16

69221649

+CIRH1Achr16

69196986

+
3UTR-intronENST00000528525ENST00000569615SNTB2chr16

69221636

+CIRH1Achr16

69187487

+
3UTR-intronENST00000528525ENST00000569615SNTB2chr16

69221649

+CIRH1Achr16

69187487

+
5CDS-3UTRENST00000336278ENST00000569615SNTB2chr16

69221649

-CIRH1Achr16

69177081

+
5CDS-intronENST00000336278ENST00000569615SNTB2chr16

69221649

+CIRH1Achr16

69196986

+
5CDS-intronENST00000336278ENST00000569615SNTB2chr16

69221636

+CIRH1Achr16

69187487

+
5CDS-intronENST00000336278ENST00000569615SNTB2chr16

69221649

+CIRH1Achr16

69187487

+
Frame-shiftENST00000336278ENST00000314423SNTB2chr16

69221649

+CIRH1Achr16

69196986

+
Frame-shiftENST00000336278ENST00000314423SNTB2chr16

69221636

+CIRH1Achr16

69187487

+
Frame-shiftENST00000336278ENST00000314423SNTB2chr16

69221649

+CIRH1Achr16

69187487

+
Frame-shiftENST00000336278ENST00000352319SNTB2chr16

69221649

+CIRH1Achr16

69196986

+
Frame-shiftENST00000336278ENST00000352319SNTB2chr16

69221636

+CIRH1Achr16

69187487

+
Frame-shiftENST00000336278ENST00000352319SNTB2chr16

69221649

+CIRH1Achr16

69187487

+
Frame-shiftENST00000336278ENST00000563094SNTB2chr16

69221649

+CIRH1Achr16

69196986

+
Frame-shiftENST00000336278ENST00000563094SNTB2chr16

69221636

+CIRH1Achr16

69187487

+
Frame-shiftENST00000336278ENST00000563094SNTB2chr16

69221649

+CIRH1Achr16

69187487

+
In-frameENST00000336278ENST00000314423SNTB2chr16

69221649

-CIRH1Achr16

69177081

+
In-frameENST00000336278ENST00000352319SNTB2chr16

69221649

-CIRH1Achr16

69177081

+
In-frameENST00000336278ENST00000563094SNTB2chr16

69221649

-CIRH1Achr16

69177081

+

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 SNTB2-CIRH1A


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)
SNTB2chr1669221649+CIRH1Achr1669196985+4.38E-121
SNTB2chr1669221649+CIRH1Achr1669187486+8.96E-121
SNTB2chr1669221649+CIRH1Achr1669196985+4.38E-121
SNTB2chr1669221649+CIRH1Achr1669187486+8.96E-121

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 SNTB2-CIRH1A


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/chr16:69221649/chr16:69196986)
- 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
HgeneSNTB2chr16:69221649chr16:69177081ENST00000336278-1754_57193541.0Compositional biasNote=Poly-Ala
HgeneSNTB2chr16:69221649chr16:69177081ENST00000336278-1766_69193541.0Compositional biasNote=Poly-Ala
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000314423417182_226175687.0RepeatNote=WD 5
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000314423417227_275175687.0RepeatNote=WD 6
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000314423417276_317175687.0RepeatNote=WD 7
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000314423417318_377175687.0RepeatNote=WD 8
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000314423417378_427175687.0RepeatNote=WD 9
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000314423417428_475175687.0RepeatNote=WD 10
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000314423417476_516175687.0RepeatNote=WD 11
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000314423417517_566175687.0RepeatNote=WD 12
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000314423417567_627175687.0RepeatNote=WD 13
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000314423417628_666175687.0RepeatNote=WD 14
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000352319414182_226175572.0RepeatNote=WD 5
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000352319414227_275175572.0RepeatNote=WD 6
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000352319414276_317175572.0RepeatNote=WD 7
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000352319414318_377175572.0RepeatNote=WD 8
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000352319414378_427175572.0RepeatNote=WD 9
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000352319414428_475175572.0RepeatNote=WD 10
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000352319414476_516175572.0RepeatNote=WD 11
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000352319414517_566175572.0RepeatNote=WD 12
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000352319414567_627175572.0RepeatNote=WD 13
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000352319414628_666175572.0RepeatNote=WD 14
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000563094415182_226175626.0RepeatNote=WD 5
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000563094415227_275175626.0RepeatNote=WD 6
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000563094415276_317175626.0RepeatNote=WD 7
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000563094415318_377175626.0RepeatNote=WD 8
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000563094415378_427175626.0RepeatNote=WD 9
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000563094415428_475175626.0RepeatNote=WD 10
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000563094415476_516175626.0RepeatNote=WD 11
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000563094415517_566175626.0RepeatNote=WD 12
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000563094415567_627175626.0RepeatNote=WD 13
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000563094415628_666175626.0RepeatNote=WD 14

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSNTB2chr16:69221649chr16:69177081ENST00000336278-17115_198193541.0DomainPDZ
HgeneSNTB2chr16:69221649chr16:69177081ENST00000336278-17163_300193541.0DomainPH 1
HgeneSNTB2chr16:69221649chr16:69177081ENST00000336278-17325_437193541.0DomainPH 2
HgeneSNTB2chr16:69221649chr16:69177081ENST00000336278-17484_540193541.0DomainNote=SU
HgeneSNTB2chr16:69221649chr16:69177081ENST00000336278-17518_540193541.0RegionCalmodulin-binding
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000314423417136_181175687.0RepeatNote=WD 4
TgeneCIRH1Achr16:69221649chr16:69177081ENST0000031442341751_92175687.0RepeatNote=WD 2
TgeneCIRH1Achr16:69221649chr16:69177081ENST000003144234177_50175687.0RepeatNote=WD 1
TgeneCIRH1Achr16:69221649chr16:69177081ENST0000031442341793_135175687.0RepeatNote=WD 3
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000352319414136_181175572.0RepeatNote=WD 4
TgeneCIRH1Achr16:69221649chr16:69177081ENST0000035231941451_92175572.0RepeatNote=WD 2
TgeneCIRH1Achr16:69221649chr16:69177081ENST000003523194147_50175572.0RepeatNote=WD 1
TgeneCIRH1Achr16:69221649chr16:69177081ENST0000035231941493_135175572.0RepeatNote=WD 3
TgeneCIRH1Achr16:69221649chr16:69177081ENST00000563094415136_181175626.0RepeatNote=WD 4
TgeneCIRH1Achr16:69221649chr16:69177081ENST0000056309441551_92175626.0RepeatNote=WD 2
TgeneCIRH1Achr16:69221649chr16:69177081ENST000005630944157_50175626.0RepeatNote=WD 1
TgeneCIRH1Achr16:69221649chr16:69177081ENST0000056309441593_135175626.0RepeatNote=WD 3


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Fusion Gene Sequence for SNTB2-CIRH1A


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 SNTB2-CIRH1A


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 SNTB2-CIRH1A


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 SNTB2-CIRH1A


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