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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:ALYREF-CCDC57 (FusionGDB2 ID:HG10189TG284001)

Fusion Gene Summary for ALYREF-CCDC57

check button Fusion gene summary
Fusion gene informationFusion gene name: ALYREF-CCDC57
Fusion gene ID: hg10189tg284001
HgeneTgene
Gene symbol

ALYREF

CCDC57

Gene ID

10189

284001

Gene nameAly/REF export factorcoiled-coil domain containing 57
SynonymsALY|ALY/REF|BEF|REF|THOC4-
Cytomap('ALYREF')('CCDC57')

17q25.3

17q25.3

Type of geneprotein-codingprotein-coding
DescriptionTHO complex subunit 4THO complex 4ally of AML-1 and LEF-1bZIP enhancing factorbZIP-enhancing factor BEFtho4transcriptional coactivator Aly/REFcoiled-coil domain-containing protein 57
Modification date2020031320200313
UniProtAcc.

Q2TAC2

Ensembl transtripts involved in fusion geneENST00000331204, ENST00000505490, 
ENST00000512673, 
Fusion gene scores* DoF score3 X 3 X 3=2719 X 12 X 13=2964
# samples 322
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(22/2964*10)=-3.75197001878117
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ALYREF [Title/Abstract] AND CCDC57 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointALYREF(79846317)-CCDC57(80113504), # 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
HgeneALYREF

GO:0006405

RNA export from nucleus

28418038

HgeneALYREF

GO:0046784

viral mRNA export from host cell nucleus

18974867



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
ChimerDB4ESCATCGA-2H-A9GN-01AALYREFchr17

79846317

-CCDC57chr17

80113504

-
ChimerDB4ESCATCGA-2H-A9GNALYREFchr17

79846317

-CCDC57chr17

80113504

-


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Fusion Gene ORF analysis for ALYREF-CCDC57

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-5UTRENST00000331204ENST00000327026ALYREFchr17

79846317

-CCDC57chr17

80113504

-
intron-5UTRENST00000505490ENST00000327026ALYREFchr17

79846317

-CCDC57chr17

80113504

-
intron-5UTRENST00000512673ENST00000327026ALYREFchr17

79846317

-CCDC57chr17

80113504

-
intron-intronENST00000331204ENST00000389641ALYREFchr17

79846317

-CCDC57chr17

80113504

-
intron-intronENST00000331204ENST00000392343ALYREFchr17

79846317

-CCDC57chr17

80113504

-
intron-intronENST00000331204ENST00000392346ALYREFchr17

79846317

-CCDC57chr17

80113504

-
intron-intronENST00000331204ENST00000392347ALYREFchr17

79846317

-CCDC57chr17

80113504

-
intron-intronENST00000505490ENST00000389641ALYREFchr17

79846317

-CCDC57chr17

80113504

-
intron-intronENST00000505490ENST00000392343ALYREFchr17

79846317

-CCDC57chr17

80113504

-
intron-intronENST00000505490ENST00000392346ALYREFchr17

79846317

-CCDC57chr17

80113504

-
intron-intronENST00000505490ENST00000392347ALYREFchr17

79846317

-CCDC57chr17

80113504

-
intron-intronENST00000512673ENST00000389641ALYREFchr17

79846317

-CCDC57chr17

80113504

-
intron-intronENST00000512673ENST00000392343ALYREFchr17

79846317

-CCDC57chr17

80113504

-
intron-intronENST00000512673ENST00000392346ALYREFchr17

79846317

-CCDC57chr17

80113504

-
intron-intronENST00000512673ENST00000392347ALYREFchr17

79846317

-CCDC57chr17

80113504

-

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 ALYREF-CCDC57


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)


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Fusion Protein Features for ALYREF-CCDC57


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/:79846317/:80113504)
- 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
.CCDC57

Q2TAC2

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: Pleiotropic regulator of centriole duplication, mitosis, and ciliogenesis. Critical interface between centrosome and microtubule-mediated cellular processes. Centriole duplication protein required for recruitment of CEP63, CEP152, and PLK4 to the centrosome. Independent of its centrosomal targeting, localizes to and interacts with microtubules and regulates microtubule nucleation, stability, and mitotic progression. {ECO:0000269|PubMed:32402286}.

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 ALYREF-CCDC57


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 ALYREF-CCDC57


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 ALYREF-CCDC57


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 ALYREF-CCDC57


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneALYREFC0019693HIV Infections1CTD_human
HgeneALYREFC4505456HIV Coinfection1CTD_human