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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:KDM2A-FBXO3 (FusionGDB2 ID:41717)

Fusion Gene Summary for KDM2A-FBXO3

check button Fusion gene summary
Fusion gene informationFusion gene name: KDM2A-FBXO3
Fusion gene ID: 41717
HgeneTgene
Gene symbol

KDM2A

FBXO3

Gene ID

22992

26273

Gene namelysine demethylase 2AF-box protein 3
SynonymsCXXC8|FBL11|FBL7|FBXL11|JHDM1A|LILINAFBA|FBX3
Cytomap

11q13.2

11p13

Type of geneprotein-codingprotein-coding
Descriptionlysine-specific demethylase 2ACXXC-type zinc finger protein 8F-box and leucine-rich repeat protein 11F-box/LRR-repeat protein 11[Histone-H3]-lysine-36 demethylase 1AjmjC domain-containing histone demethylation protein 1Ajumonji C domain-containing hF-box only protein 3F-box protein FBX3
Modification date2020032020200327
UniProtAcc

Q9Y2K7

Q6PIJ6

Ensembl transtripts involved in fusion geneENST00000398645, ENST00000529006, 
ENST00000308783, ENST00000526258, 
ENST00000530342, 
ENST00000265651, 
ENST00000526785, ENST00000533103, 
ENST00000448981, ENST00000530401, 
ENST00000531080, ENST00000532057, 
ENST00000534136, 
Fusion gene scores* DoF score36 X 24 X 17=146885 X 5 X 3=75
# samples 507
** MAII scorelog2(50/14688*10)=-4.87656605875172
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/75*10)=-0.0995356735509144
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KDM2A [Title/Abstract] AND FBXO3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointKDM2A(66949363)-FBXO3(33792376), # samples:2
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 buttonFusion gene breakpoints across KDM2A (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 FBXO3 (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
ChimerDB4BRCATCGA-A2-A0D2-01AKDM2Achr11

66949363

-FBXO3chr11

33792376

-
ChimerDB4BRCATCGA-A2-A0D2-01AKDM2Achr11

66949363

+FBXO3chr11

33792376

-


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Fusion Gene ORF analysis for KDM2A-FBXO3

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-5UTRENST00000398645ENST00000265651KDM2Achr11

66949363

+FBXO3chr11

33792376

-
5CDS-5UTRENST00000398645ENST00000526785KDM2Achr11

66949363

+FBXO3chr11

33792376

-
5CDS-5UTRENST00000398645ENST00000533103KDM2Achr11

66949363

+FBXO3chr11

33792376

-
5CDS-5UTRENST00000529006ENST00000265651KDM2Achr11

66949363

+FBXO3chr11

33792376

-
5CDS-5UTRENST00000529006ENST00000526785KDM2Achr11

66949363

+FBXO3chr11

33792376

-
5CDS-5UTRENST00000529006ENST00000533103KDM2Achr11

66949363

+FBXO3chr11

33792376

-
5CDS-intronENST00000398645ENST00000448981KDM2Achr11

66949363

+FBXO3chr11

33792376

-
5CDS-intronENST00000398645ENST00000530401KDM2Achr11

66949363

+FBXO3chr11

33792376

-
5CDS-intronENST00000398645ENST00000531080KDM2Achr11

66949363

+FBXO3chr11

33792376

-
5CDS-intronENST00000398645ENST00000532057KDM2Achr11

66949363

+FBXO3chr11

33792376

-
5CDS-intronENST00000398645ENST00000534136KDM2Achr11

66949363

+FBXO3chr11

33792376

-
5CDS-intronENST00000529006ENST00000448981KDM2Achr11

66949363

+FBXO3chr11

33792376

-
5CDS-intronENST00000529006ENST00000530401KDM2Achr11

66949363

+FBXO3chr11

33792376

-
5CDS-intronENST00000529006ENST00000531080KDM2Achr11

66949363

+FBXO3chr11

33792376

-
5CDS-intronENST00000529006ENST00000532057KDM2Achr11

66949363

+FBXO3chr11

33792376

-
5CDS-intronENST00000529006ENST00000534136KDM2Achr11

66949363

+FBXO3chr11

33792376

-
intron-5UTRENST00000308783ENST00000265651KDM2Achr11

66949363

+FBXO3chr11

33792376

-
intron-5UTRENST00000308783ENST00000526785KDM2Achr11

66949363

+FBXO3chr11

33792376

-
intron-5UTRENST00000308783ENST00000533103KDM2Achr11

66949363

+FBXO3chr11

33792376

-
intron-5UTRENST00000526258ENST00000265651KDM2Achr11

66949363

+FBXO3chr11

33792376

-
intron-5UTRENST00000526258ENST00000526785KDM2Achr11

66949363

+FBXO3chr11

33792376

-
intron-5UTRENST00000526258ENST00000533103KDM2Achr11

66949363

+FBXO3chr11

33792376

-
intron-5UTRENST00000530342ENST00000265651KDM2Achr11

66949363

+FBXO3chr11

33792376

-
intron-5UTRENST00000530342ENST00000526785KDM2Achr11

66949363

+FBXO3chr11

33792376

-
intron-5UTRENST00000530342ENST00000533103KDM2Achr11

66949363

+FBXO3chr11

33792376

-
intron-intronENST00000308783ENST00000448981KDM2Achr11

66949363

+FBXO3chr11

33792376

-
intron-intronENST00000308783ENST00000530401KDM2Achr11

66949363

+FBXO3chr11

33792376

-
intron-intronENST00000308783ENST00000531080KDM2Achr11

66949363

+FBXO3chr11

33792376

-
intron-intronENST00000308783ENST00000532057KDM2Achr11

66949363

+FBXO3chr11

33792376

-
intron-intronENST00000308783ENST00000534136KDM2Achr11

66949363

+FBXO3chr11

33792376

-
intron-intronENST00000526258ENST00000448981KDM2Achr11

66949363

+FBXO3chr11

33792376

-
intron-intronENST00000526258ENST00000530401KDM2Achr11

66949363

+FBXO3chr11

33792376

-
intron-intronENST00000526258ENST00000531080KDM2Achr11

66949363

+FBXO3chr11

33792376

-
intron-intronENST00000526258ENST00000532057KDM2Achr11

66949363

+FBXO3chr11

33792376

-
intron-intronENST00000526258ENST00000534136KDM2Achr11

66949363

+FBXO3chr11

33792376

-
intron-intronENST00000530342ENST00000448981KDM2Achr11

66949363

+FBXO3chr11

33792376

-
intron-intronENST00000530342ENST00000530401KDM2Achr11

66949363

+FBXO3chr11

33792376

-
intron-intronENST00000530342ENST00000531080KDM2Achr11

66949363

+FBXO3chr11

33792376

-
intron-intronENST00000530342ENST00000532057KDM2Achr11

66949363

+FBXO3chr11

33792376

-
intron-intronENST00000530342ENST00000534136KDM2Achr11

66949363

+FBXO3chr11

33792376

-

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 KDM2A-FBXO3


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)

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.

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Fusion Protein Features for KDM2A-FBXO3


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/:66949363/:33792376)
- 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
KDM2A

Q9Y2K7

FBXO3

Q6PIJ6

FUNCTION: Histone demethylase that specifically demethylates 'Lys-36' of histone H3, thereby playing a central role in histone code. Preferentially demethylates dimethylated H3 'Lys-36' residue while it has weak or no activity for mono- and tri-methylated H3 'Lys-36'. May also recognize and bind to some phosphorylated proteins and promote their ubiquitination and degradation. Required to maintain the heterochromatic state. Associates with centromeres and represses transcription of small non-coding RNAs that are encoded by the clusters of satellite repeats at the centromere. Required to sustain centromeric integrity and genomic stability, particularly during mitosis. Regulates circadian gene expression by repressing the transcriptional activator activity of CLOCK-ARNTL/BMAL1 heterodimer and RORA in a catalytically-independent manner (PubMed:26037310). {ECO:0000269|PubMed:16362057, ECO:0000269|PubMed:19001877, ECO:0000269|PubMed:26037310, ECO:0000269|PubMed:28262558}.FUNCTION: Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of PDCD1/PD-1, thereby regulating T-cells-mediated immunity (PubMed:30487606). Required for anti-tumor activity of T-cells by promoting the degradation of PDCD1/PD-1; the PDCD1-mediated inhibitory pathway being exploited by tumors to attenuate anti-tumor immunity and facilitate tumor survival (PubMed:30487606). May indirectly stimulate the activity of transcription factor KLF7, a regulator of neuronal differentiation, without promoting KLF7 ubiquitination (By similarity). {ECO:0000250|UniProtKB:Q8BMI0, ECO:0000269|PubMed:30487606}.

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 KDM2A-FBXO3


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 KDM2A-FBXO3


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 KDM2A-FBXO3


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 KDM2A-FBXO3


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