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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:SULF1-CYBB (FusionGDB2 ID:HG23213TG1536)

Fusion Gene Summary for SULF1-CYBB

check button Fusion gene summary
Fusion gene informationFusion gene name: SULF1-CYBB
Fusion gene ID: hg23213tg1536
HgeneTgene
Gene symbol

SULF1

CYBB

Gene ID

23213

1536

Gene namesulfatase 1cytochrome b-245 beta chain
SynonymsSULF-1AMCBX2|CGD|GP91-1|GP91-PHOX|GP91PHOX|IMD34|NOX2|p91-PHOX
Cytomap('SULF1')('CYBB')

8q13.2-q13.3

Xp21.1-p11.4

Type of geneprotein-codingprotein-coding
Descriptionextracellular sulfatase Sulf-1sulfatase FPcytochrome b-245 heavy chainCGD91-phoxNADPH oxidase 2cytochrome b(558) subunit betacytochrome b-245 beta polypeptidecytochrome b558 subunit betaheme-binding membrane glycoprotein gp91phoxneutrophil cytochrome b 91 kDa polypeptidep22 phagocyte B-cy
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000260128, ENST00000402687, 
ENST00000419716, ENST00000458141, 
ENST00000521946, 
Fusion gene scores* DoF score13 X 15 X 5=9751 X 1 X 1=1
# samples 161
** MAII scorelog2(16/975*10)=-2.60733031374961
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: SULF1 [Title/Abstract] AND CYBB [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSULF1(70407291)-CYBB(37672407), # 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
HgeneSULF1

GO:0001937

negative regulation of endothelial cell proliferation

16778174

HgeneSULF1

GO:0016525

negative regulation of angiogenesis

16778174

HgeneSULF1

GO:0030177

positive regulation of Wnt signaling pathway

19520866

HgeneSULF1

GO:0030201

heparan sulfate proteoglycan metabolic process

18687675|19666466|19822709

HgeneSULF1

GO:0048010

vascular endothelial growth factor receptor signaling pathway

16778174

TgeneCYBB

GO:0006801

superoxide metabolic process

12042318

TgeneCYBB

GO:0042554

superoxide anion generation

12042318

TgeneCYBB

GO:0055114

oxidation-reduction process

12042318



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
ChiTaRS5.0N/AFN055314SULF1chr8

70407291

+CYBBchrX

37672407

-


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Fusion Gene ORF analysis for SULF1-CYBB

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
intron-3UTRENST00000260128ENST00000378588SULF1chr8

70407291

+CYBBchrX

37672407

-
intron-3UTRENST00000402687ENST00000378588SULF1chr8

70407291

+CYBBchrX

37672407

-
intron-3UTRENST00000419716ENST00000378588SULF1chr8

70407291

+CYBBchrX

37672407

-
intron-3UTRENST00000458141ENST00000378588SULF1chr8

70407291

+CYBBchrX

37672407

-
intron-3UTRENST00000521946ENST00000378588SULF1chr8

70407291

+CYBBchrX

37672407

-
intron-intronENST00000260128ENST00000492288SULF1chr8

70407291

+CYBBchrX

37672407

-
intron-intronENST00000260128ENST00000536160SULF1chr8

70407291

+CYBBchrX

37672407

-
intron-intronENST00000260128ENST00000545017SULF1chr8

70407291

+CYBBchrX

37672407

-
intron-intronENST00000402687ENST00000492288SULF1chr8

70407291

+CYBBchrX

37672407

-
intron-intronENST00000402687ENST00000536160SULF1chr8

70407291

+CYBBchrX

37672407

-
intron-intronENST00000402687ENST00000545017SULF1chr8

70407291

+CYBBchrX

37672407

-
intron-intronENST00000419716ENST00000492288SULF1chr8

70407291

+CYBBchrX

37672407

-
intron-intronENST00000419716ENST00000536160SULF1chr8

70407291

+CYBBchrX

37672407

-
intron-intronENST00000419716ENST00000545017SULF1chr8

70407291

+CYBBchrX

37672407

-
intron-intronENST00000458141ENST00000492288SULF1chr8

70407291

+CYBBchrX

37672407

-
intron-intronENST00000458141ENST00000536160SULF1chr8

70407291

+CYBBchrX

37672407

-
intron-intronENST00000458141ENST00000545017SULF1chr8

70407291

+CYBBchrX

37672407

-
intron-intronENST00000521946ENST00000492288SULF1chr8

70407291

+CYBBchrX

37672407

-
intron-intronENST00000521946ENST00000536160SULF1chr8

70407291

+CYBBchrX

37672407

-
intron-intronENST00000521946ENST00000545017SULF1chr8

70407291

+CYBBchrX

37672407

-

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 SULF1-CYBB


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)


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Fusion Protein Features for SULF1-CYBB


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/:70407291/:37672407)
- 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

- 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 SULF1-CYBB


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 SULF1-CYBB


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 SULF1-CYBB


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 SULF1-CYBB


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSULF1C0032927Precancerous Conditions1CTD_human
HgeneSULF1C0282313Condition, Preneoplastic1CTD_human
HgeneSULF1C0919267ovarian neoplasm1CTD_human
HgeneSULF1C1140680Malignant neoplasm of ovary1CTD_human
HgeneSULF1C1838162Mesomelia-synostoses syndrome1GENOMICS_ENGLAND
TgeneC1844376Granulomatous Disease, Chronic, X-Linked25CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0020538Hypertensive disease4CTD_human
TgeneC0018203Chronic granulomatous disease2CTD_human;GENOMICS_ENGLAND
TgeneC1970859Atypical Mycobacteriosis, Familial, X-Linked 22CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC3661525Autosomal Recessive Chronic Granulomatous Disease2CTD_human
TgeneC0002152Alloxan Diabetes1CTD_human
TgeneC0011849Diabetes Mellitus1CTD_human
TgeneC0011853Diabetes Mellitus, Experimental1CTD_human
TgeneC0018801Heart failure1CTD_human
TgeneC0018802Congestive heart failure1CTD_human
TgeneC0022658Kidney Diseases1CTD_human
TgeneC0022661Kidney Failure, Chronic1CTD_human
TgeneC0023212Left-Sided Heart Failure1CTD_human
TgeneC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneC0027055Myocardial Reperfusion Injury1CTD_human
TgeneC0033687Proteinuria1CTD_human
TgeneC0035126Reperfusion Injury1CTD_human
TgeneC0038433Streptozotocin Diabetes1CTD_human
TgeneC0235527Heart Failure, Right-Sided1CTD_human
TgeneC0393953Anterior Cerebral Circulation Infarction1CTD_human
TgeneC0751952Anterior Circulation Brain Infarction1CTD_human
TgeneC0751953Brain Infarction, Posterior Circulation1CTD_human
TgeneC0751954Venous Infarction, Brain1CTD_human
TgeneC0751955Brain Infarction1CTD_human
TgeneC1959583Myocardial Failure1CTD_human
TgeneC1961112Heart Decompensation1CTD_human