FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:BBS9-FKBP9 (FusionGDB2 ID:9182)

Fusion Gene Summary for BBS9-FKBP9

check button Fusion gene summary
Fusion gene informationFusion gene name: BBS9-FKBP9
Fusion gene ID: 9182
HgeneTgene
Gene symbol

BBS9

FKBP9

Gene ID

27241

11328

Gene nameBardet-Biedl syndrome 9FKBP prolyl isomerase 9
SynonymsB1|C18|D1|PTHB1FKBP60|FKBP63|PPIase
Cytomap

7p14.3

7p14.3

Type of geneprotein-codingprotein-coding
Descriptionprotein PTHB1PTH-responsive osteosarcoma B1 proteinbardet-Biedl syndrome 9 proteinparathyroid hormone-responsive B1 gene proteinpeptidyl-prolyl cis-trans isomerase FKBP963 kDa FK506-binding protein63 kDa FKBPFK506 binding protein 9, 63 kDaFK506-binding protein 9FKBP-63FKBP-9PPIase FKBP9rotamase
Modification date2020032020200313
UniProtAcc

Q3SYG4

Q75LS8

Ensembl transtripts involved in fusion geneENST00000242067, ENST00000355070, 
ENST00000350941, ENST00000354265, 
ENST00000396127, ENST00000425508, 
ENST00000482941, 		ENST00000242209, 
ENST00000538336, ENST00000538443, 
ENST00000489038, ENST00000490776, 
Fusion gene scores* DoF score12 X 11 X 8=10566 X 5 X 4=120
# samples 126
** MAII scorelog2(12/1056*10)=-3.13750352374993
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BBS9 [Title/Abstract] AND FKBP9 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBBS9(33427756)-FKBP9(33035774), # samples:2
Anticipated loss of major functional domain due to fusion event.BBS9-FKBP9 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
BBS9-FKBP9 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism 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 buttonFusion gene breakpoints across BBS9 (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 FKBP9 (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
ChimerDB4ESCATCGA-VR-A8EZBBS9chr7

33427756

+FKBP9chr7

33035774

+
ChimerDB4ESCATCGA-VR-A8EZBBS9chr7

33427756

+FKBP9chr7

33035774

+


Top

Fusion Gene ORF analysis for BBS9-FKBP9

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
Frame-shiftENST00000242067ENST00000242209BBS9chr7

33427756

+FKBP9chr7

33035774

+
Frame-shiftENST00000242067ENST00000538336BBS9chr7

33427756

+FKBP9chr7

33035774

+
Frame-shiftENST00000242067ENST00000538443BBS9chr7

33427756

+FKBP9chr7

33035774

+
5CDS-intronENST00000242067ENST00000489038BBS9chr7

33427756

+FKBP9chr7

33035774

+
5CDS-intronENST00000242067ENST00000490776BBS9chr7

33427756

+FKBP9chr7

33035774

+
Frame-shiftENST00000355070ENST00000242209BBS9chr7

33427756

+FKBP9chr7

33035774

+
Frame-shiftENST00000355070ENST00000538336BBS9chr7

33427756

+FKBP9chr7

33035774

+
Frame-shiftENST00000355070ENST00000538443BBS9chr7

33427756

+FKBP9chr7

33035774

+
5CDS-intronENST00000355070ENST00000489038BBS9chr7

33427756

+FKBP9chr7

33035774

+
5CDS-intronENST00000355070ENST00000490776BBS9chr7

33427756

+FKBP9chr7

33035774

+
Frame-shiftENST00000350941ENST00000242209BBS9chr7

33427756

+FKBP9chr7

33035774

+
Frame-shiftENST00000350941ENST00000538336BBS9chr7

33427756

+FKBP9chr7

33035774

+
Frame-shiftENST00000350941ENST00000538443BBS9chr7

33427756

+FKBP9chr7

33035774

+
5CDS-intronENST00000350941ENST00000489038BBS9chr7

33427756

+FKBP9chr7

33035774

+
5CDS-intronENST00000350941ENST00000490776BBS9chr7

33427756

+FKBP9chr7

33035774

+
Frame-shiftENST00000354265ENST00000242209BBS9chr7

33427756

+FKBP9chr7

33035774

+
Frame-shiftENST00000354265ENST00000538336BBS9chr7

33427756

+FKBP9chr7

33035774

+
Frame-shiftENST00000354265ENST00000538443BBS9chr7

33427756

+FKBP9chr7

33035774

+
5CDS-intronENST00000354265ENST00000489038BBS9chr7

33427756

+FKBP9chr7

33035774

+
5CDS-intronENST00000354265ENST00000490776BBS9chr7

33427756

+FKBP9chr7

33035774

+
Frame-shiftENST00000396127ENST00000242209BBS9chr7

33427756

+FKBP9chr7

33035774

+
Frame-shiftENST00000396127ENST00000538336BBS9chr7

33427756

+FKBP9chr7

33035774

+
Frame-shiftENST00000396127ENST00000538443BBS9chr7

33427756

+FKBP9chr7

33035774

+
5CDS-intronENST00000396127ENST00000489038BBS9chr7

33427756

+FKBP9chr7

33035774

+
5CDS-intronENST00000396127ENST00000490776BBS9chr7

33427756

+FKBP9chr7

33035774

+
intron-3CDSENST00000425508ENST00000242209BBS9chr7

33427756

+FKBP9chr7

33035774

+
intron-3CDSENST00000425508ENST00000538336BBS9chr7

33427756

+FKBP9chr7

33035774

+
intron-3CDSENST00000425508ENST00000538443BBS9chr7

33427756

+FKBP9chr7

33035774

+
intron-intronENST00000425508ENST00000489038BBS9chr7

33427756

+FKBP9chr7

33035774

+
intron-intronENST00000425508ENST00000490776BBS9chr7

33427756

+FKBP9chr7

33035774

+
intron-3CDSENST00000482941ENST00000242209BBS9chr7

33427756

+FKBP9chr7

33035774

+
intron-3CDSENST00000482941ENST00000538336BBS9chr7

33427756

+FKBP9chr7

33035774

+
intron-3CDSENST00000482941ENST00000538443BBS9chr7

33427756

+FKBP9chr7

33035774

+
intron-intronENST00000482941ENST00000489038BBS9chr7

33427756

+FKBP9chr7

33035774

+
intron-intronENST00000482941ENST00000490776BBS9chr7

33427756

+FKBP9chr7

33035774

+

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

Top

Fusion Genomic Features for BBS9-FKBP9


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)
BBS9chr733427756+FKBP9chr733035774+1.61E-081
BBS9chr733427756+FKBP9chr733035774+1.61E-081

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.

Top

Fusion Protein Features for BBS9-FKBP9


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BBS9

Q3SYG4

FKBP9

Q75LS8

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. Required for proper BBSome complex assembly and its ciliary localization. {ECO:0000269|PubMed:17574030, ECO:0000269|PubMed:22072986}.

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


Top

Fusion Gene Sequence for BBS9-FKBP9


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.

Top

Fusion Gene PPI Analysis for BBS9-FKBP9


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


Top

Related Drugs for BBS9-FKBP9


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

Related Diseases for BBS9-FKBP9


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBBS9C1859567BARDET-BIEDL SYNDROME 92CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneBBS9C0010278Craniosynostosis1CTD_human
HgeneBBS9C0030044Acrocephaly1CTD_human
HgeneBBS9C0221356Brachycephaly1CTD_human
HgeneBBS9C0265534Scaphycephaly1CTD_human
HgeneBBS9C0265535Trigonocephaly1CTD_human
HgeneBBS9C1833340Synostotic Posterior Plagiocephaly1CTD_human
HgeneBBS9C1860819Metopic synostosis1CTD_human
HgeneBBS9C2931150Synostotic Anterior Plagiocephaly1CTD_human
HgeneBBS9C4551902Craniosynostosis, Type 11CTD_human