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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:CBX4-EFCAB5 (FusionGDB2 ID:HG8535TG374786)

Fusion Gene Summary for CBX4-EFCAB5

check button Fusion gene summary
Fusion gene informationFusion gene name: CBX4-EFCAB5
Fusion gene ID: hg8535tg374786
HgeneTgene
Gene symbol

CBX4

EFCAB5

Gene ID

8535

374786

Gene namechromobox 4EF-hand calcium binding domain 5
SynonymsNBP16|PC2-
Cytomap('CBX4')('EFCAB5')

17q25.3

17q11.2

Type of geneprotein-codingprotein-coding
DescriptionE3 SUMO-protein ligase CBX4NS5ATP1-binding protein 16Pc class 2 homologchromobox homolog 4 (Pc class homolog, Drosophila)chromobox protein homolog 4chromobox-like protein 4polycomb 2 homologEF-hand calcium-binding domain-containing protein 5
Modification date2020031320200313
UniProtAcc

O00257

A4FU69

Ensembl transtripts involved in fusion geneENST00000269397, ENST00000448310, 
Fusion gene scores* DoF score5 X 4 X 5=10016 X 14 X 7=1568
# samples 618
** MAII scorelog2(6/100*10)=-0.736965594166206
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(18/1568*10)=-3.12285674778553
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CBX4 [Title/Abstract] AND EFCAB5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCBX4(77811636)-EFCAB5(28418889), # samples:3
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
HgeneCBX4

GO:0045892

negative regulation of transcription, DNA-templated

18567530



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
ChimerDB4BRCATCGA-A8-A09C-01ACBX4chr17

77811636

-EFCAB5chr17

28418889

+
ChimerDB4BRCATCGA-A8-A09C-01ACBX4chr17

77811636

-EFCAB5chr17

28434852

+
ChimerDB4BRCATCGA-A8-A09CCBX4chr17

77811635

-EFCAB5chr17

28418888

+
ChimerDB4BRCATCGA-A8-A09CCBX4chr17

77811635

-EFCAB5chr17

28434851

+


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Fusion Gene ORF analysis for CBX4-EFCAB5

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-intronENST00000269397ENST00000320856CBX4chr17

77811636

-EFCAB5chr17

28418889

+
5CDS-intronENST00000269397ENST00000320856CBX4chr17

77811636

-EFCAB5chr17

28434852

+
5CDS-intronENST00000269397ENST00000320856CBX4chr17

77811635

-EFCAB5chr17

28418888

+
5CDS-intronENST00000269397ENST00000320856CBX4chr17

77811635

-EFCAB5chr17

28434851

+
5CDS-intronENST00000269397ENST00000378738CBX4chr17

77811636

-EFCAB5chr17

28418889

+
5CDS-intronENST00000269397ENST00000378738CBX4chr17

77811636

-EFCAB5chr17

28434852

+
5CDS-intronENST00000269397ENST00000378738CBX4chr17

77811635

-EFCAB5chr17

28418888

+
5CDS-intronENST00000269397ENST00000378738CBX4chr17

77811635

-EFCAB5chr17

28434851

+
5CDS-intronENST00000269397ENST00000394832CBX4chr17

77811636

-EFCAB5chr17

28418889

+
5CDS-intronENST00000269397ENST00000394832CBX4chr17

77811636

-EFCAB5chr17

28434852

+
5CDS-intronENST00000269397ENST00000394832CBX4chr17

77811635

-EFCAB5chr17

28418888

+
5CDS-intronENST00000269397ENST00000394832CBX4chr17

77811635

-EFCAB5chr17

28434851

+
5CDS-intronENST00000269397ENST00000394835CBX4chr17

77811636

-EFCAB5chr17

28418889

+
5CDS-intronENST00000269397ENST00000394835CBX4chr17

77811636

-EFCAB5chr17

28434852

+
5CDS-intronENST00000269397ENST00000394835CBX4chr17

77811635

-EFCAB5chr17

28418888

+
5CDS-intronENST00000269397ENST00000394835CBX4chr17

77811635

-EFCAB5chr17

28434851

+
5CDS-intronENST00000269397ENST00000534836CBX4chr17

77811636

-EFCAB5chr17

28418889

+
5CDS-intronENST00000269397ENST00000534836CBX4chr17

77811636

-EFCAB5chr17

28434852

+
5CDS-intronENST00000269397ENST00000534836CBX4chr17

77811635

-EFCAB5chr17

28418888

+
5CDS-intronENST00000269397ENST00000534836CBX4chr17

77811635

-EFCAB5chr17

28434851

+
5CDS-intronENST00000269397ENST00000536908CBX4chr17

77811636

-EFCAB5chr17

28418889

+
5CDS-intronENST00000269397ENST00000536908CBX4chr17

77811636

-EFCAB5chr17

28434852

+
5CDS-intronENST00000269397ENST00000536908CBX4chr17

77811635

-EFCAB5chr17

28418888

+
5CDS-intronENST00000269397ENST00000536908CBX4chr17

77811635

-EFCAB5chr17

28434851

+
5CDS-intronENST00000269397ENST00000541045CBX4chr17

77811636

-EFCAB5chr17

28418889

+
5CDS-intronENST00000269397ENST00000541045CBX4chr17

77811636

-EFCAB5chr17

28434852

+
5CDS-intronENST00000269397ENST00000541045CBX4chr17

77811635

-EFCAB5chr17

28418888

+
5CDS-intronENST00000269397ENST00000541045CBX4chr17

77811635

-EFCAB5chr17

28434851

+
5CDS-intronENST00000448310ENST00000320856CBX4chr17

77811636

-EFCAB5chr17

28418889

+
5CDS-intronENST00000448310ENST00000320856CBX4chr17

77811636

-EFCAB5chr17

28434852

+
5CDS-intronENST00000448310ENST00000320856CBX4chr17

77811635

-EFCAB5chr17

28418888

+
5CDS-intronENST00000448310ENST00000320856CBX4chr17

77811635

-EFCAB5chr17

28434851

+
5CDS-intronENST00000448310ENST00000378738CBX4chr17

77811636

-EFCAB5chr17

28418889

+
5CDS-intronENST00000448310ENST00000378738CBX4chr17

77811636

-EFCAB5chr17

28434852

+
5CDS-intronENST00000448310ENST00000378738CBX4chr17

77811635

-EFCAB5chr17

28418888

+
5CDS-intronENST00000448310ENST00000378738CBX4chr17

77811635

-EFCAB5chr17

28434851

+
5CDS-intronENST00000448310ENST00000394832CBX4chr17

77811636

-EFCAB5chr17

28418889

+
5CDS-intronENST00000448310ENST00000394832CBX4chr17

77811636

-EFCAB5chr17

28434852

+
5CDS-intronENST00000448310ENST00000394832CBX4chr17

77811635

-EFCAB5chr17

28418888

+
5CDS-intronENST00000448310ENST00000394832CBX4chr17

77811635

-EFCAB5chr17

28434851

+
5CDS-intronENST00000448310ENST00000394835CBX4chr17

77811636

-EFCAB5chr17

28418889

+
5CDS-intronENST00000448310ENST00000394835CBX4chr17

77811636

-EFCAB5chr17

28434852

+
5CDS-intronENST00000448310ENST00000394835CBX4chr17

77811635

-EFCAB5chr17

28418888

+
5CDS-intronENST00000448310ENST00000394835CBX4chr17

77811635

-EFCAB5chr17

28434851

+
5CDS-intronENST00000448310ENST00000534836CBX4chr17

77811636

-EFCAB5chr17

28418889

+
5CDS-intronENST00000448310ENST00000534836CBX4chr17

77811636

-EFCAB5chr17

28434852

+
5CDS-intronENST00000448310ENST00000534836CBX4chr17

77811635

-EFCAB5chr17

28418888

+
5CDS-intronENST00000448310ENST00000534836CBX4chr17

77811635

-EFCAB5chr17

28434851

+
5CDS-intronENST00000448310ENST00000536908CBX4chr17

77811636

-EFCAB5chr17

28418889

+
5CDS-intronENST00000448310ENST00000536908CBX4chr17

77811636

-EFCAB5chr17

28434852

+
5CDS-intronENST00000448310ENST00000536908CBX4chr17

77811635

-EFCAB5chr17

28418888

+
5CDS-intronENST00000448310ENST00000536908CBX4chr17

77811635

-EFCAB5chr17

28434851

+
5CDS-intronENST00000448310ENST00000541045CBX4chr17

77811636

-EFCAB5chr17

28418889

+
5CDS-intronENST00000448310ENST00000541045CBX4chr17

77811636

-EFCAB5chr17

28434852

+
5CDS-intronENST00000448310ENST00000541045CBX4chr17

77811635

-EFCAB5chr17

28418888

+
5CDS-intronENST00000448310ENST00000541045CBX4chr17

77811635

-EFCAB5chr17

28434851

+

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 CBX4-EFCAB5


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)
CBX4chr1777811635-EFCAB5chr1728418888+0.0360671950.9639328
CBX4chr1777811635-EFCAB5chr1728418888+0.0360671950.9639328
CBX4chr1777811635-EFCAB5chr1728434851+8.97E-060.99999106
CBX4chr1777811635-EFCAB5chr1728434851+8.97E-060.99999106
CBX4chr1777811635-EFCAB5chr1728418888+0.0360671950.9639328
CBX4chr1777811635-EFCAB5chr1728418888+0.0360671950.9639328
CBX4chr1777811635-EFCAB5chr1728434851+8.97E-060.99999106
CBX4chr1777811635-EFCAB5chr1728434851+8.97E-060.99999106


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 CBX4-EFCAB5


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/:77811636/:28418889)
- 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
CBX4

O00257

EFCAB5

A4FU69

FUNCTION: E3 SUMO-protein ligase which facilitates SUMO1 conjugation by UBE2I (PubMed:12679040). Involved in the sumoylation of HNRNPK, a p53/TP53 transcriptional coactivator, hence indirectly regulates p53/TP53 transcriptional activation resulting in p21/CDKN1A expression. Monosumoylates ZNF131 (PubMed:22825850). {ECO:0000269|PubMed:12679040, ECO:0000269|PubMed:22825850}.; FUNCTION: Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development (PubMed:12167701, PubMed:19636380, PubMed:21282530). PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility (PubMed:12167701, PubMed:19636380, PubMed:21282530). Binds to histone H3 trimethylated at 'Lys-9' (H3K9me3) (By similarity). Plays a role in the lineage differentiation of the germ layers in embryonic development (By similarity). {ECO:0000250|UniProtKB:O55187, ECO:0000269|PubMed:12167701, ECO:0000269|PubMed:19636380, ECO:0000269|PubMed:21282530}.

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 CBX4-EFCAB5


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 CBX4-EFCAB5


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 CBX4-EFCAB5


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 CBX4-EFCAB5


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