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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:CNOT1-RASSF8 (FusionGDB2 ID:HG23019TG11228)

Fusion Gene Summary for CNOT1-RASSF8

check button Fusion gene summary
Fusion gene informationFusion gene name: CNOT1-RASSF8
Fusion gene ID: hg23019tg11228
HgeneTgene
Gene symbol

CNOT1

RASSF8

Gene ID

23019

11228

Gene nameCCR4-NOT transcription complex subunit 1Ras association domain family member 8
SynonymsAD-005|CDC39|HPE12|NOT1|NOT1HC12orf2|HOJ1
Cytomap('CNOT1')('RASSF8')

16q21

12p12.1

Type of geneprotein-codingprotein-coding
DescriptionCCR4-NOT transcription complex subunit 1CCR4-associated factor 1NOT1 (negative regulator of transcription 1, yeast) homologadrenal gland protein AD-005negative regulator of transcription subunit 1 homologras association domain-containing protein 8Ras association (RalGDS/AF-6) domain family (N-terminal) member 8carcinoma-associated protein HOJ-1
Modification date2020032220200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000317147, ENST00000441024, 
ENST00000569240, ENST00000245138, 
ENST00000569732, 
Fusion gene scores* DoF score19 X 17 X 11=35538 X 8 X 4=256
# samples 218
** MAII scorelog2(21/3553*10)=-4.0805764556651
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/256*10)=-1.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CNOT1 [Title/Abstract] AND RASSF8 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCNOT1(58663632)-RASSF8(26217431), # 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
HgeneCNOT1

GO:0000122

negative regulation of transcription by RNA polymerase II

16778766

HgeneCNOT1

GO:0010606

positive regulation of cytoplasmic mRNA processing body assembly

21976065

HgeneCNOT1

GO:0017148

negative regulation of translation

24736845

HgeneCNOT1

GO:0033147

negative regulation of intracellular estrogen receptor signaling pathway

16778766

HgeneCNOT1

GO:0035195

gene silencing by miRNA

23172285|24768540

HgeneCNOT1

GO:0048387

negative regulation of retinoic acid receptor signaling pathway

16778766

HgeneCNOT1

GO:0060213

positive regulation of nuclear-transcribed mRNA poly(A) tail shortening

23644599



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-A1-A0SO-01ACNOT1chr16

58663632

-RASSF8chr12

26217431

+


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Fusion Gene ORF analysis for CNOT1-RASSF8

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
5UTR-3CDSENST00000317147ENST00000282884CNOT1chr16

58663632

-RASSF8chr12

26217431

+
5UTR-3CDSENST00000317147ENST00000381352CNOT1chr16

58663632

-RASSF8chr12

26217431

+
5UTR-3CDSENST00000317147ENST00000405154CNOT1chr16

58663632

-RASSF8chr12

26217431

+
5UTR-3CDSENST00000317147ENST00000541490CNOT1chr16

58663632

-RASSF8chr12

26217431

+
5UTR-3CDSENST00000317147ENST00000542865CNOT1chr16

58663632

-RASSF8chr12

26217431

+
5UTR-3CDSENST00000441024ENST00000282884CNOT1chr16

58663632

-RASSF8chr12

26217431

+
5UTR-3CDSENST00000441024ENST00000381352CNOT1chr16

58663632

-RASSF8chr12

26217431

+
5UTR-3CDSENST00000441024ENST00000405154CNOT1chr16

58663632

-RASSF8chr12

26217431

+
5UTR-3CDSENST00000441024ENST00000541490CNOT1chr16

58663632

-RASSF8chr12

26217431

+
5UTR-3CDSENST00000441024ENST00000542865CNOT1chr16

58663632

-RASSF8chr12

26217431

+
5UTR-3CDSENST00000569240ENST00000282884CNOT1chr16

58663632

-RASSF8chr12

26217431

+
5UTR-3CDSENST00000569240ENST00000381352CNOT1chr16

58663632

-RASSF8chr12

26217431

+
5UTR-3CDSENST00000569240ENST00000405154CNOT1chr16

58663632

-RASSF8chr12

26217431

+
5UTR-3CDSENST00000569240ENST00000541490CNOT1chr16

58663632

-RASSF8chr12

26217431

+
5UTR-3CDSENST00000569240ENST00000542865CNOT1chr16

58663632

-RASSF8chr12

26217431

+
5UTR-intronENST00000317147ENST00000538081CNOT1chr16

58663632

-RASSF8chr12

26217431

+
5UTR-intronENST00000441024ENST00000538081CNOT1chr16

58663632

-RASSF8chr12

26217431

+
5UTR-intronENST00000569240ENST00000538081CNOT1chr16

58663632

-RASSF8chr12

26217431

+
intron-3CDSENST00000245138ENST00000282884CNOT1chr16

58663632

-RASSF8chr12

26217431

+
intron-3CDSENST00000245138ENST00000381352CNOT1chr16

58663632

-RASSF8chr12

26217431

+
intron-3CDSENST00000245138ENST00000405154CNOT1chr16

58663632

-RASSF8chr12

26217431

+
intron-3CDSENST00000245138ENST00000541490CNOT1chr16

58663632

-RASSF8chr12

26217431

+
intron-3CDSENST00000245138ENST00000542865CNOT1chr16

58663632

-RASSF8chr12

26217431

+
intron-3CDSENST00000569732ENST00000282884CNOT1chr16

58663632

-RASSF8chr12

26217431

+
intron-3CDSENST00000569732ENST00000381352CNOT1chr16

58663632

-RASSF8chr12

26217431

+
intron-3CDSENST00000569732ENST00000405154CNOT1chr16

58663632

-RASSF8chr12

26217431

+
intron-3CDSENST00000569732ENST00000541490CNOT1chr16

58663632

-RASSF8chr12

26217431

+
intron-3CDSENST00000569732ENST00000542865CNOT1chr16

58663632

-RASSF8chr12

26217431

+
intron-intronENST00000245138ENST00000538081CNOT1chr16

58663632

-RASSF8chr12

26217431

+
intron-intronENST00000569732ENST00000538081CNOT1chr16

58663632

-RASSF8chr12

26217431

+

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 CNOT1-RASSF8


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)
CNOT1chr1658663631-RASSF8chr1226217430+2.40E-050.99997604
CNOT1chr1658663631-RASSF8chr1226217430+2.40E-050.99997604


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 CNOT1-RASSF8


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/:58663632/:26217431)
- 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 CNOT1-RASSF8


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 CNOT1-RASSF8


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 CNOT1-RASSF8


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 CNOT1-RASSF8


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCNOT1C0557874Global developmental delay1GENOMICS_ENGLAND
TgeneC0149925Small cell carcinoma of lung1CTD_human