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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:CCDC51-CNOT8 (FusionGDB2 ID:13829)

Fusion Gene Summary for CCDC51-CNOT8

check button Fusion gene summary
Fusion gene informationFusion gene name: CCDC51-CNOT8
Fusion gene ID: 13829
HgeneTgene
Gene symbol

CCDC51

CNOT8

Gene ID

79714

9337

Gene namecoiled-coil domain containing 51CCR4-NOT transcription complex subunit 8
SynonymsMITOKCAF1|CALIF|Caf1b|POP2|hCAF1
Cytomap

3p21.31

5q33.2

Type of geneprotein-codingprotein-coding
Descriptionmitochondrial potassium channelcoiled-coil domain-containing protein 51CCR4-NOT transcription complex subunit 8CAF1-like proteinCAF2CALIFpCCR4-associated factor 8PGK promoter directed over production
Modification date2020031320200313
UniProtAcc

Q96ER9

Q9UFF9

Ensembl transtripts involved in fusion geneENST00000395694, ENST00000395696, 
ENST00000412398, ENST00000442740, 
ENST00000447018, 		ENST00000285896, 
ENST00000403027, ENST00000517876, 
ENST00000519404, ENST00000520671, 
ENST00000521402, ENST00000521450, 
ENST00000521583, ENST00000523698, 
ENST00000524105, 
Fusion gene scores* DoF score5 X 7 X 1=356 X 6 X 3=108
# samples 76
** MAII scorelog2(7/35*10)=1
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(6/108*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CCDC51 [Title/Abstract] AND CNOT8 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCCDC51(48485443)-CNOT8(154249816), # 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
HgeneCCDC51

GO:0071805

potassium ion transmembrane transport

31435016

TgeneCNOT8

GO:0043928

exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay

20065043


check buttonFusion gene breakpoints across CCDC51 (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 CNOT8 (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
ChiTaRS5.0N/ABF244951CCDC51chr3

48485443

+CNOT8chr5

154249816

-


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Fusion Gene ORF analysis for CCDC51-CNOT8

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
intron-intronENST00000395694ENST00000285896CCDC51chr3

48485443

+CNOT8chr5

154249816

-
intron-intronENST00000395694ENST00000403027CCDC51chr3

48485443

+CNOT8chr5

154249816

-
intron-intronENST00000395694ENST00000517876CCDC51chr3

48485443

+CNOT8chr5

154249816

-
intron-intronENST00000395694ENST00000519404CCDC51chr3

48485443

+CNOT8chr5

154249816

-
intron-intronENST00000395694ENST00000520671CCDC51chr3

48485443

+CNOT8chr5

154249816

-
intron-intronENST00000395694ENST00000521402CCDC51chr3

48485443

+CNOT8chr5

154249816

-
intron-intronENST00000395694ENST00000521450CCDC51chr3

48485443

+CNOT8chr5

154249816

-
intron-intronENST00000395694ENST00000521583CCDC51chr3

48485443

+CNOT8chr5

154249816

-
intron-intronENST00000395694ENST00000523698CCDC51chr3

48485443

+CNOT8chr5

154249816

-
intron-intronENST00000395694ENST00000524105CCDC51chr3

48485443

+CNOT8chr5

154249816

-
intron-intronENST00000395696ENST00000285896CCDC51chr3

48485443

+CNOT8chr5

154249816

-
intron-intronENST00000395696ENST00000403027CCDC51chr3

48485443

+CNOT8chr5

154249816

-
intron-intronENST00000395696ENST00000517876CCDC51chr3

48485443

+CNOT8chr5

154249816

-
intron-intronENST00000395696ENST00000519404CCDC51chr3

48485443

+CNOT8chr5

154249816

-
intron-intronENST00000395696ENST00000520671CCDC51chr3

48485443

+CNOT8chr5

154249816

-
intron-intronENST00000395696ENST00000521402CCDC51chr3

48485443

+CNOT8chr5

154249816

-
intron-intronENST00000395696ENST00000521450CCDC51chr3

48485443

+CNOT8chr5

154249816

-
intron-intronENST00000395696ENST00000521583CCDC51chr3

48485443

+CNOT8chr5

154249816

-
intron-intronENST00000395696ENST00000523698CCDC51chr3

48485443

+CNOT8chr5

154249816

-
intron-intronENST00000395696ENST00000524105CCDC51chr3

48485443

+CNOT8chr5

154249816

-
intron-intronENST00000412398ENST00000285896CCDC51chr3

48485443

+CNOT8chr5

154249816

-
intron-intronENST00000412398ENST00000403027CCDC51chr3

48485443

+CNOT8chr5

154249816

-
intron-intronENST00000412398ENST00000517876CCDC51chr3

48485443

+CNOT8chr5

154249816

-
intron-intronENST00000412398ENST00000519404CCDC51chr3

48485443

+CNOT8chr5

154249816

-
intron-intronENST00000412398ENST00000520671CCDC51chr3

48485443

+CNOT8chr5

154249816

-
intron-intronENST00000412398ENST00000521402CCDC51chr3

48485443

+CNOT8chr5

154249816

-
intron-intronENST00000412398ENST00000521450CCDC51chr3

48485443

+CNOT8chr5

154249816

-
intron-intronENST00000412398ENST00000521583CCDC51chr3

48485443

+CNOT8chr5

154249816

-
intron-intronENST00000412398ENST00000523698CCDC51chr3

48485443

+CNOT8chr5

154249816

-
intron-intronENST00000412398ENST00000524105CCDC51chr3

48485443

+CNOT8chr5

154249816

-
intron-intronENST00000442740ENST00000285896CCDC51chr3

48485443

+CNOT8chr5

154249816

-
intron-intronENST00000442740ENST00000403027CCDC51chr3

48485443

+CNOT8chr5

154249816

-
intron-intronENST00000442740ENST00000517876CCDC51chr3

48485443

+CNOT8chr5

154249816

-
intron-intronENST00000442740ENST00000519404CCDC51chr3

48485443

+CNOT8chr5

154249816

-
intron-intronENST00000442740ENST00000520671CCDC51chr3

48485443

+CNOT8chr5

154249816

-
intron-intronENST00000442740ENST00000521402CCDC51chr3

48485443

+CNOT8chr5

154249816

-
intron-intronENST00000442740ENST00000521450CCDC51chr3

48485443

+CNOT8chr5

154249816

-
intron-intronENST00000442740ENST00000521583CCDC51chr3

48485443

+CNOT8chr5

154249816

-
intron-intronENST00000442740ENST00000523698CCDC51chr3

48485443

+CNOT8chr5

154249816

-
intron-intronENST00000442740ENST00000524105CCDC51chr3

48485443

+CNOT8chr5

154249816

-
intron-intronENST00000447018ENST00000285896CCDC51chr3

48485443

+CNOT8chr5

154249816

-
intron-intronENST00000447018ENST00000403027CCDC51chr3

48485443

+CNOT8chr5

154249816

-
intron-intronENST00000447018ENST00000517876CCDC51chr3

48485443

+CNOT8chr5

154249816

-
intron-intronENST00000447018ENST00000519404CCDC51chr3

48485443

+CNOT8chr5

154249816

-
intron-intronENST00000447018ENST00000520671CCDC51chr3

48485443

+CNOT8chr5

154249816

-
intron-intronENST00000447018ENST00000521402CCDC51chr3

48485443

+CNOT8chr5

154249816

-
intron-intronENST00000447018ENST00000521450CCDC51chr3

48485443

+CNOT8chr5

154249816

-
intron-intronENST00000447018ENST00000521583CCDC51chr3

48485443

+CNOT8chr5

154249816

-
intron-intronENST00000447018ENST00000523698CCDC51chr3

48485443

+CNOT8chr5

154249816

-
intron-intronENST00000447018ENST00000524105CCDC51chr3

48485443

+CNOT8chr5

154249816

-

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 CCDC51-CNOT8


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 CCDC51-CNOT8


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/:48485443/:154249816)
- 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
CCDC51

Q96ER9

CNOT8

Q9UFF9

FUNCTION: Mitochondrial potassium channel located in the mitochondrial inner membrane (PubMed:31435016). Together with ABCB8/MITOSUR, forms a protein complex localized in the mitochondria that mediates ATP-dependent potassium currents across the inner membrane (that is, mitoK(ATP) channel) (PubMed:31435016). May contribute to the homeostatic control of cellular metabolism under stress conditions by regulating the mitochondrial matrix volume (PubMed:31435016). {ECO:0000269|PubMed:31435016}.FUNCTION: Has 3'-5' poly(A) exoribonuclease activity for synthetic poly(A) RNA substrate. Its function seems to be partially redundant with that of CNOT7. Catalytic component of the CCR4-NOT complex which is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. During miRNA-mediated repression the complex seems also to act as translational repressor during translational initiation. Additional complex functions may be a consequence of its influence on mRNA expression. Associates with members of the BTG family such as TOB1 and BTG2 and is required for their anti-proliferative activity. {ECO:0000269|PubMed:12771185, ECO:0000269|PubMed:19605561, ECO:0000269|PubMed:20065043, ECO:0000269|PubMed:23236473}.

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 CCDC51-CNOT8


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 CCDC51-CNOT8


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 CCDC51-CNOT8


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 CCDC51-CNOT8


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