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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:BBS2-C15orf41 (FusionGDB2 ID:HG583TG84529)

Fusion Gene Summary for BBS2-C15orf41

check button Fusion gene summary
Fusion gene informationFusion gene name: BBS2-C15orf41
Fusion gene ID: hg583tg84529
HgeneTgene
Gene symbol

BBS2

C15orf41

Gene ID

583

84529

Gene nameBardet-Biedl syndrome 2chromosome 15 open reading frame 41
SynonymsBBS|RP74HH114
Cytomap('BBS2')('C15orf41')

16q13

15q14

Type of geneprotein-codingprotein-coding
DescriptionBardet-Biedl syndrome 2 proteinprotein C15orf41uncharacterized protein C15orf41
Modification date2020031320200313
UniProtAcc

Q9BXC9

.
Ensembl transtripts involved in fusion geneENST00000245157, ENST00000568104, 
ENST00000561951, 
Fusion gene scores* DoF score5 X 5 X 3=758 X 5 X 7=280
# samples 510
** MAII scorelog2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/280*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BBS2 [Title/Abstract] AND C15orf41 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBBS2(56553658)-C15orf41(36946299), # samples:2
Anticipated loss of major functional domain due to fusion event.BBS2-C15orf41 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


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
ChimerDB4SARCTCGA-WP-A9GB-01ABBS2chr16

56553658

-C15orf41chr15

36946299

+


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Fusion Gene ORF analysis for BBS2-C15orf41

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-5UTRENST00000245157ENST00000338183BBS2chr16

56553658

-C15orf41chr15

36946299

+
5CDS-5UTRENST00000245157ENST00000562877BBS2chr16

56553658

-C15orf41chr15

36946299

+
5CDS-5UTRENST00000245157ENST00000567389BBS2chr16

56553658

-C15orf41chr15

36946299

+
5CDS-5UTRENST00000568104ENST00000338183BBS2chr16

56553658

-C15orf41chr15

36946299

+
5CDS-5UTRENST00000568104ENST00000562877BBS2chr16

56553658

-C15orf41chr15

36946299

+
5CDS-5UTRENST00000568104ENST00000567389BBS2chr16

56553658

-C15orf41chr15

36946299

+
5CDS-intronENST00000245157ENST00000562489BBS2chr16

56553658

-C15orf41chr15

36946299

+
5CDS-intronENST00000245157ENST00000563167BBS2chr16

56553658

-C15orf41chr15

36946299

+
5CDS-intronENST00000245157ENST00000565792BBS2chr16

56553658

-C15orf41chr15

36946299

+
5CDS-intronENST00000568104ENST00000562489BBS2chr16

56553658

-C15orf41chr15

36946299

+
5CDS-intronENST00000568104ENST00000563167BBS2chr16

56553658

-C15orf41chr15

36946299

+
5CDS-intronENST00000568104ENST00000565792BBS2chr16

56553658

-C15orf41chr15

36946299

+
Frame-shiftENST00000245157ENST00000437989BBS2chr16

56553658

-C15orf41chr15

36946299

+
Frame-shiftENST00000245157ENST00000566621BBS2chr16

56553658

-C15orf41chr15

36946299

+
Frame-shiftENST00000245157ENST00000569302BBS2chr16

56553658

-C15orf41chr15

36946299

+
Frame-shiftENST00000568104ENST00000437989BBS2chr16

56553658

-C15orf41chr15

36946299

+
Frame-shiftENST00000568104ENST00000566621BBS2chr16

56553658

-C15orf41chr15

36946299

+
Frame-shiftENST00000568104ENST00000569302BBS2chr16

56553658

-C15orf41chr15

36946299

+
intron-3CDSENST00000561951ENST00000437989BBS2chr16

56553658

-C15orf41chr15

36946299

+
intron-3CDSENST00000561951ENST00000566621BBS2chr16

56553658

-C15orf41chr15

36946299

+
intron-3CDSENST00000561951ENST00000569302BBS2chr16

56553658

-C15orf41chr15

36946299

+
intron-5UTRENST00000561951ENST00000338183BBS2chr16

56553658

-C15orf41chr15

36946299

+
intron-5UTRENST00000561951ENST00000562877BBS2chr16

56553658

-C15orf41chr15

36946299

+
intron-5UTRENST00000561951ENST00000567389BBS2chr16

56553658

-C15orf41chr15

36946299

+
intron-intronENST00000561951ENST00000562489BBS2chr16

56553658

-C15orf41chr15

36946299

+
intron-intronENST00000561951ENST00000563167BBS2chr16

56553658

-C15orf41chr15

36946299

+
intron-intronENST00000561951ENST00000565792BBS2chr16

56553658

-C15orf41chr15

36946299

+

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 BBS2-C15orf41


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)
BBS2chr1656553657-C15orf41chr1536946298+1.01E-050.99998987
BBS2chr1656553657-C15orf41chr1536946298+1.01E-050.99998987


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 BBS2-C15orf41


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/:56553658/:36946299)
- 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
BBS2

Q9BXC9

.
FUNCTION: The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization. {ECO:0000269|PubMed:17574030, ECO:0000269|PubMed:22072986}.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 BBS2-C15orf41


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 BBS2-C15orf41


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 BBS2-C15orf41


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 BBS2-C15orf41


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBBS2C2936863Bardet-Biedl syndrome 2 (disorder)9CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneBBS2C0035334Retinitis Pigmentosa1ORPHANET
HgeneBBS2C4225281RETINITIS PIGMENTOSA 741CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC3810185ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib4GENOMICS_ENGLAND;UNIPROT
TgeneC0002876Congenital dyserythropoietic anemia2CTD_human;GENOMICS_ENGLAND
TgeneC0271933Congenital dyserythropoietic anemia, type I1CTD_human;ORPHANET