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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:BBS9-KMT2E (FusionGDB2 ID:HG27241TG55904)

Fusion Gene Summary for BBS9-KMT2E

check button Fusion gene summary
Fusion gene informationFusion gene name: BBS9-KMT2E
Fusion gene ID: hg27241tg55904
HgeneTgene
Gene symbol

BBS9

KMT2E

Gene ID

27241

55904

Gene nameBardet-Biedl syndrome 9lysine methyltransferase 2E (inactive)
SynonymsB1|C18|D1|PTHB1HDCMC04P|MLL5|NKp44L|ODLURO
Cytomap('BBS9')('KMT2E')

7p14.3

7q22.3

Type of geneprotein-codingprotein-coding
Descriptionprotein PTHB1PTH-responsive osteosarcoma B1 proteinbardet-Biedl syndrome 9 proteinparathyroid hormone-responsive B1 gene proteininactive histone-lysine N-methyltransferase 2Ehistone-lysine N-methyltransferase 2Ehistone-lysine N-methyltransferase MLL5inactive lysine N-methyltransferase 2Elysine (K)-specific methyltransferase 2Emyeloid/lymphoid or mixed-lineage leukemia 5 (trit
Modification date2020032020200314
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000242067, ENST00000350941, 
ENST00000354265, ENST00000355070, 
ENST00000396127, ENST00000425508, 
ENST00000482941, 
Fusion gene scores* DoF score12 X 11 X 8=10567 X 10 X 3=210
# samples 1210
** MAII scorelog2(12/1056*10)=-3.13750352374993
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/210*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BBS9 [Title/Abstract] AND KMT2E [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBBS9(33644587)-KMT2E(104681286), # 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


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
ChimerDB4COADTCGA-A6-2674-01ABBS9chr7

33644587

+KMT2Echr7

104681286

+


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Fusion Gene ORF analysis for BBS9-KMT2E

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-3UTRENST00000242067ENST00000480368BBS9chr7

33644587

+KMT2Echr7

104681286

+
5CDS-3UTRENST00000350941ENST00000480368BBS9chr7

33644587

+KMT2Echr7

104681286

+
5CDS-3UTRENST00000354265ENST00000480368BBS9chr7

33644587

+KMT2Echr7

104681286

+
5CDS-3UTRENST00000355070ENST00000480368BBS9chr7

33644587

+KMT2Echr7

104681286

+
5CDS-3UTRENST00000396127ENST00000480368BBS9chr7

33644587

+KMT2Echr7

104681286

+
5CDS-5UTRENST00000242067ENST00000311117BBS9chr7

33644587

+KMT2Echr7

104681286

+
5CDS-5UTRENST00000242067ENST00000334877BBS9chr7

33644587

+KMT2Echr7

104681286

+
5CDS-5UTRENST00000242067ENST00000334914BBS9chr7

33644587

+KMT2Echr7

104681286

+
5CDS-5UTRENST00000242067ENST00000476671BBS9chr7

33644587

+KMT2Echr7

104681286

+
5CDS-5UTRENST00000350941ENST00000311117BBS9chr7

33644587

+KMT2Echr7

104681286

+
5CDS-5UTRENST00000350941ENST00000334877BBS9chr7

33644587

+KMT2Echr7

104681286

+
5CDS-5UTRENST00000350941ENST00000334914BBS9chr7

33644587

+KMT2Echr7

104681286

+
5CDS-5UTRENST00000350941ENST00000476671BBS9chr7

33644587

+KMT2Echr7

104681286

+
5CDS-5UTRENST00000354265ENST00000311117BBS9chr7

33644587

+KMT2Echr7

104681286

+
5CDS-5UTRENST00000354265ENST00000334877BBS9chr7

33644587

+KMT2Echr7

104681286

+
5CDS-5UTRENST00000354265ENST00000334914BBS9chr7

33644587

+KMT2Echr7

104681286

+
5CDS-5UTRENST00000354265ENST00000476671BBS9chr7

33644587

+KMT2Echr7

104681286

+
5CDS-5UTRENST00000355070ENST00000311117BBS9chr7

33644587

+KMT2Echr7

104681286

+
5CDS-5UTRENST00000355070ENST00000334877BBS9chr7

33644587

+KMT2Echr7

104681286

+
5CDS-5UTRENST00000355070ENST00000334914BBS9chr7

33644587

+KMT2Echr7

104681286

+
5CDS-5UTRENST00000355070ENST00000476671BBS9chr7

33644587

+KMT2Echr7

104681286

+
5CDS-5UTRENST00000396127ENST00000311117BBS9chr7

33644587

+KMT2Echr7

104681286

+
5CDS-5UTRENST00000396127ENST00000334877BBS9chr7

33644587

+KMT2Echr7

104681286

+
5CDS-5UTRENST00000396127ENST00000334914BBS9chr7

33644587

+KMT2Echr7

104681286

+
5CDS-5UTRENST00000396127ENST00000476671BBS9chr7

33644587

+KMT2Echr7

104681286

+
5CDS-intronENST00000242067ENST00000257745BBS9chr7

33644587

+KMT2Echr7

104681286

+
5CDS-intronENST00000350941ENST00000257745BBS9chr7

33644587

+KMT2Echr7

104681286

+
5CDS-intronENST00000354265ENST00000257745BBS9chr7

33644587

+KMT2Echr7

104681286

+
5CDS-intronENST00000355070ENST00000257745BBS9chr7

33644587

+KMT2Echr7

104681286

+
5CDS-intronENST00000396127ENST00000257745BBS9chr7

33644587

+KMT2Echr7

104681286

+
intron-3UTRENST00000425508ENST00000480368BBS9chr7

33644587

+KMT2Echr7

104681286

+
intron-3UTRENST00000482941ENST00000480368BBS9chr7

33644587

+KMT2Echr7

104681286

+
intron-5UTRENST00000425508ENST00000311117BBS9chr7

33644587

+KMT2Echr7

104681286

+
intron-5UTRENST00000425508ENST00000334877BBS9chr7

33644587

+KMT2Echr7

104681286

+
intron-5UTRENST00000425508ENST00000334914BBS9chr7

33644587

+KMT2Echr7

104681286

+
intron-5UTRENST00000425508ENST00000476671BBS9chr7

33644587

+KMT2Echr7

104681286

+
intron-5UTRENST00000482941ENST00000311117BBS9chr7

33644587

+KMT2Echr7

104681286

+
intron-5UTRENST00000482941ENST00000334877BBS9chr7

33644587

+KMT2Echr7

104681286

+
intron-5UTRENST00000482941ENST00000334914BBS9chr7

33644587

+KMT2Echr7

104681286

+
intron-5UTRENST00000482941ENST00000476671BBS9chr7

33644587

+KMT2Echr7

104681286

+
intron-intronENST00000425508ENST00000257745BBS9chr7

33644587

+KMT2Echr7

104681286

+
intron-intronENST00000482941ENST00000257745BBS9chr7

33644587

+KMT2Echr7

104681286

+

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 BBS9-KMT2E


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)
BBS9chr733644587+KMT2Echr7104681285+8.51E-050.9999149
BBS9chr733644587+KMT2Echr7104681285+8.51E-050.9999149


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 BBS9-KMT2E


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/:33644587/:104681286)
- 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 BBS9-KMT2E


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 BBS9-KMT2E


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 BBS9-KMT2E


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 BBS9-KMT2E


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
TgeneC0004352Autistic Disorder1GENOMICS_ENGLAND
TgeneC0023418leukemia1CTD_human
TgeneC0023466Leukemia, Monocytic, Chronic1CTD_human
TgeneC0023470Myeloid Leukemia1CTD_human
TgeneC0036572Seizures1GENOMICS_ENGLAND
TgeneC0557874Global developmental delay1GENOMICS_ENGLAND
TgeneC1535926Neurodevelopmental Disorders1CTD_human
TgeneC3714756Intellectual Disability1GENOMICS_ENGLAND
TgeneC4025874Abnormality of skull size1GENOMICS_ENGLAND
TgeneC4225275MENTAL RETARDATION, AUTOSOMAL DOMINANT 401GENOMICS_ENGLAND