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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:CCDC125-CCNB1 (FusionGDB2 ID:13601)

Fusion Gene Summary for CCDC125-CCNB1

check button Fusion gene summary
Fusion gene informationFusion gene name: CCDC125-CCNB1
Fusion gene ID: 13601
HgeneTgene
Gene symbol

CCDC125

CCNB1

Gene ID

202243

891

Gene namecoiled-coil domain containing 125cyclin B1
SynonymsKENAECCNB
Cytomap

5q13.2

5q13.2

Type of geneprotein-codingprotein-coding
Descriptioncoiled-coil domain-containing protein 125KenaeG2/mitotic-specific cyclin-B1
Modification date2020031320200313
UniProtAcc

Q86Z20

Q9NPC3

Ensembl transtripts involved in fusion geneENST00000383374, ENST00000396499, 
ENST00000511257, ENST00000396496, 
ENST00000460090, 
ENST00000256442, 
Fusion gene scores* DoF score3 X 3 X 3=277 X 7 X 5=245
# samples 37
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(7/245*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CCDC125 [Title/Abstract] AND CCNB1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCCDC125(68602644)-CCNB1(68473066), # 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
HgeneCCDC125

GO:0035024

negative regulation of Rho protein signal transduction

19787194

HgeneCCDC125

GO:0090630

activation of GTPase activity

19787194

HgeneCCDC125

GO:2000146

negative regulation of cell motility

19787194

TgeneCCNB1

GO:0010971

positive regulation of G2/M transition of mitotic cell cycle

24746669

TgeneCCNB1

GO:1905448

positive regulation of mitochondrial ATP synthesis coupled electron transport

24746669


check buttonFusion gene breakpoints across CCDC125 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across CCNB1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChimerDB4STADTCGA-BR-8372-01ACCDC125chr5

68602644

-CCNB1chr5

68473066

+


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Fusion Gene ORF analysis for CCDC125-CCNB1

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-shiftENST00000383374ENST00000256442CCDC125chr5

68602644

-CCNB1chr5

68473066

+
Frame-shiftENST00000396499ENST00000256442CCDC125chr5

68602644

-CCNB1chr5

68473066

+
Frame-shiftENST00000511257ENST00000256442CCDC125chr5

68602644

-CCNB1chr5

68473066

+
In-frameENST00000396496ENST00000256442CCDC125chr5

68602644

-CCNB1chr5

68473066

+
intron-3CDSENST00000460090ENST00000256442CCDC125chr5

68602644

-CCNB1chr5

68473066

+

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)
ENST00000396496CCDC125chr568602644-ENST00000256442CCNB1chr568473066+1558725108803231

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
ENST00000396496ENST00000256442CCDC125chr568602644-CCNB1chr568473066+0.0005529370.99944705

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Fusion Genomic Features for CCDC125-CCNB1


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)
CCDC125chr568602643-CCNB1chr568473065+2.66E-050.9999734
CCDC125chr568602643-CCNB1chr568473065+2.66E-050.9999734

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.
genomic feature

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 CCDC125-CCNB1


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/chr5:68602644/chr5:68473066)
- 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
CCDC125

Q86Z20

CCNB1

Q9NPC3

FUNCTION: May be involved in the regulation of cell migration. {ECO:0000269|PubMed:19787194}.FUNCTION: Ubiquitin E3 ligase that acts as a limiting factor for crossing-over during meiosis: required during zygonema to limit the colocalization of RNF212 with MutS-gamma-associated recombination sites and thereby establish early differentiation of crossover and non-crossover sites. Later, it is directed by MutL-gamma to stably accumulate at designated crossover sites. Probably promotes the dissociation of RNF212 and MutS-gamma to allow the progression of recombination and the implementation of the final steps of crossing over (By similarity). Modulates cyclin-B levels and participates in the regulation of cell cycle progression through the G2 phase. Overexpression causes delayed entry into mitosis. {ECO:0000250, ECO:0000269|PubMed:12612082, ECO:0000269|PubMed:17297447}.; FUNCTION: E3 ubiquitin-protein ligase. Modulates cyclin B levels and participates in the regulation of cell cycle progression through the G2 phase. Overexpression causes delayed entry into mitosis.

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
HgeneCCDC125chr5:68602644chr5:68473066ENST00000396496-612105_243205512.0Coiled coilOntology_term=ECO:0000255
HgeneCCDC125chr5:68602644chr5:68473066ENST00000396496-612293_325205512.0Coiled coilOntology_term=ECO:0000255
HgeneCCDC125chr5:68602644chr5:68473066ENST00000396499-511105_243205512.0Coiled coilOntology_term=ECO:0000255
HgeneCCDC125chr5:68602644chr5:68473066ENST00000396499-511293_325205512.0Coiled coilOntology_term=ECO:0000255
HgeneCCDC125chr5:68602644chr5:68473066ENST00000511257-713105_24380387.0Coiled coilOntology_term=ECO:0000255
HgeneCCDC125chr5:68602644chr5:68473066ENST00000511257-713293_32580387.0Coiled coilOntology_term=ECO:0000255
TgeneCCNB1chr5:68602644chr5:68473066ENST000002564426951_85361434.0Compositional biasNote=Lys-rich


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Fusion Gene Sequence for CCDC125-CCNB1


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.
>13601_13601_1_CCDC125-CCNB1_CCDC125_chr5_68602644_ENST00000396496_CCNB1_chr5_68473066_ENST00000256442_length(transcript)=1558nt_BP=725nt
TGAGCTGGAGTCCGGGCTCCGGTCCCCGCCACGGACCTTGAGAGGGTACCCGGGGTCAGACCTGGCAGACAGCCCATTTTTTCTTATGAT
AAAGACGGCATTTGGCTCATGAGCAAGGTGGCAAGATCATCAAGTGAGTCAGACGTGCAGCTCTGGGAAACAGAAGAGGATGACATGACA
GAAGGTGATTTAGGGTATGGCCTCGGAAGGAAACCTGGTGGGATTTATGAAATAGAATTTTCACATAGGTCTAGAAAAAGATCAGATGGA
AAGAACTTTAGCCCTCCTCCATTTCCGAGAAAGGGAGAAGAAAGAAATGAAGCGAGTTTTCAGTATTCCAAGCATAAGAGCCAGCAAGAT
ACATTCCCTCAAGTGTCCAGAATTTCCAATTACAGACGACAAAGTAGCACTGTAGATTCGAATTCAGAATTGTCAAATGAAGAATTAAGG
CAATGTCTTAATGAAACTTTAGAGGAGGTAGAAATGTTAAAAACTGAACTTGAGGCATCTCAAAGACAACTCAGAGGTAAAGAGGAAGCA
TTGAAAATTCTTCAAAGCATGGCAATACTGGGCAAAGCCACAAGTCATACGCAGGCAGTGCTTCAAAAAACTATGGAACAAAACAGATCC
TTGGAGAAGGAAATAAATGCCTTGCAGTGGGAAATAGAATTTGATCATAATAGATTTAAAAATATAGAGGAATCTTGGATCCAAAAATAT
GACAGACACCAACTCTACAACATTACCTGTCATATACTGAAGAATCTCTTCTTCCAGTTATGCAGCACCTGGCTAAGAATGTAGTCATGG
TAAATCAAGGACTTACAAAGCACATGACTGTCAAGAACAAGTATGCCACATCGAAGCATGCTAAGATCAGCACTCTACCACAGCTGAATT
CTGCACTAGTTCAAGATTTAGCCAAGGCTGTGGCAAAGGTGTAACTTGTAAACTTGAGTTGGAGTACTATATTTACAAATAAAATTGGCA
CCATGTGCCATCTGTACATATTACTGTTGCATTTACTTTTAATAAAGCTTGTGGCCCCTTTTACTTTTTTATAGCTTAACTAATTTGAAT
GTGGTTACTTCCTACTGTAGGGTAGCGGAAAAGTTGTCTTAAAAGGTATGGTGGGGATATTTTTAAAAACTCCTTTTGGTTTACCTGGGG
ATCCAATTGATGTATATGTTTATATACTGGGTTCTTGTTTTATATACCTGGCTTTTACTTTATTAATATGAGTTACTGAAGGTGATGGAG
GTATTTGAAAATTTTACTTCCATAGGACATACTGCATGTAAGCCAAGTCATGGAGAATCTGCTGCATAGCTCTATTTTAAAGTAAAAGTC
TACCACCGAATCCCTAGTCCCCCTGTTTTCTGTTTCTTCTTGTGATTGCTGCCATAATTCTAAGTTATTTACTTTTACCACTATTTAAGT
TATCAACTTTAGCTAGTATCTTCAAACTTTCACTTTGAAAAATGAGAATTTTATATTCTAAGCCAGTTTTCATTTTGGTTTTGTGTTTTG

>13601_13601_1_CCDC125-CCNB1_CCDC125_chr5_68602644_ENST00000396496_CCNB1_chr5_68473066_ENST00000256442_length(amino acids)=231AA_BP=205
MSKVARSSSESDVQLWETEEDDMTEGDLGYGLGRKPGGIYEIEFSHRSRKRSDGKNFSPPPFPRKGEERNEASFQYSKHKSQQDTFPQVS
RISNYRRQSSTVDSNSELSNEELRQCLNETLEEVEMLKTELEASQRQLRGKEEALKILQSMAILGKATSHTQAVLQKTMEQNRSLEKEIN

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Fusion Gene PPI Analysis for CCDC125-CCNB1


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
TgeneCCNB1chr5:68602644chr5:68473066ENST0000025644269169_177361.0434.0CDK2
TgeneCCNB1chr5:68602644chr5:68473066ENST0000025644269258_261361.0434.0CDK2


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 CCDC125-CCNB1


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 CCDC125-CCNB1


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