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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:CELF2-CCNH (FusionGDB2 ID:15606)

Fusion Gene Summary for CELF2-CCNH

check button Fusion gene summary
Fusion gene informationFusion gene name: CELF2-CCNH
Fusion gene ID: 15606
HgeneTgene
Gene symbol

CELF2

CCNH

Gene ID

10659

902

Gene nameCUGBP Elav-like family member 2cyclin H
SynonymsBRUNOL3|CELF-2|CUG-BP2|CUGBP2|ETR-3|ETR3|NAPORCAK|CycH|p34|p37
Cytomap

10p14

5q14.3

Type of geneprotein-codingprotein-coding
DescriptionCUGBP Elav-like family member 2CUG triplet repeat RNA-binding protein 2CUG-BP- and ETR-3-like factor 2ELAV-type RNA-binding protein 3KDM2B/CELF2 fusionRNA-binding protein BRUNOL-3bruno-like protein 3neuroblastoma apoptosis-related RNA-binding protecyclin-HCAK complex subunitCDK-activating kinase complex subunitMO15-associated proteincyclin-dependent kinase-activating kinase complex subunit
Modification date2020031320200327
UniProtAcc

O95319

P51946

Ensembl transtripts involved in fusion geneENST00000315874, ENST00000354440, 
ENST00000354897, ENST00000379261, 
ENST00000399850, ENST00000416382, 
ENST00000417956, ENST00000427450, 
ENST00000450189, ENST00000542579, 
ENST00000608830, ENST00000609692, 
ENST00000537122, 		ENST00000256897, 
ENST00000504878, ENST00000513499, 
ENST00000508855, 
Fusion gene scores* DoF score18 X 17 X 4=12242 X 2 X 1=4
# samples 202
** MAII scorelog2(20/1224*10)=-2.61353165291793
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(2/4*10)=2.32192809488736
Context

PubMed: CELF2 [Title/Abstract] AND CCNH [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCELF2(11207645)-CCNH(86708641), # 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
HgeneCELF2

GO:0006376

mRNA splice site selection

11158314

TgeneCCNH

GO:0006366

transcription by RNA polymerase II

9852112

TgeneCCNH

GO:0045944

positive regulation of transcription by RNA polymerase II

8692841


check buttonFusion gene breakpoints across CELF2 (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 CCNH (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/ABP873063CELF2chr10

11207645

+CCNHchr5

86708641

-


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Fusion Gene ORF analysis for CELF2-CCNH

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-5UTRENST00000315874ENST00000256897CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000315874ENST00000504878CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000315874ENST00000513499CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000354440ENST00000256897CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000354440ENST00000504878CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000354440ENST00000513499CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000354897ENST00000256897CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000354897ENST00000504878CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000354897ENST00000513499CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000379261ENST00000256897CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000379261ENST00000504878CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000379261ENST00000513499CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000399850ENST00000256897CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000399850ENST00000504878CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000399850ENST00000513499CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000416382ENST00000256897CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000416382ENST00000504878CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000416382ENST00000513499CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000417956ENST00000256897CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000417956ENST00000504878CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000417956ENST00000513499CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000427450ENST00000256897CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000427450ENST00000504878CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000427450ENST00000513499CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000450189ENST00000256897CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000450189ENST00000504878CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000450189ENST00000513499CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000542579ENST00000256897CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000542579ENST00000504878CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000542579ENST00000513499CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000608830ENST00000256897CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000608830ENST00000504878CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000608830ENST00000513499CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000609692ENST00000256897CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000609692ENST00000504878CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000609692ENST00000513499CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-intronENST00000315874ENST00000508855CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-intronENST00000354440ENST00000508855CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-intronENST00000354897ENST00000508855CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-intronENST00000379261ENST00000508855CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-intronENST00000399850ENST00000508855CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-intronENST00000416382ENST00000508855CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-intronENST00000417956ENST00000508855CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-intronENST00000427450ENST00000508855CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-intronENST00000450189ENST00000508855CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-intronENST00000542579ENST00000508855CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-intronENST00000608830ENST00000508855CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-intronENST00000609692ENST00000508855CELF2chr10

11207645

+CCNHchr5

86708641

-
5UTR-5UTRENST00000537122ENST00000256897CELF2chr10

11207645

+CCNHchr5

86708641

-
5UTR-5UTRENST00000537122ENST00000504878CELF2chr10

11207645

+CCNHchr5

86708641

-
5UTR-5UTRENST00000537122ENST00000513499CELF2chr10

11207645

+CCNHchr5

86708641

-
5UTR-intronENST00000537122ENST00000508855CELF2chr10

11207645

+CCNHchr5

86708641

-

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 CELF2-CCNH


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 CELF2-CCNH


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/:11207645/:86708641)
- 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
CELF2

O95319

CCNH

P51946

FUNCTION: RNA-binding protein implicated in the regulation of several post-transcriptional events. Involved in pre-mRNA alternative splicing, mRNA translation and stability. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of TNNT2 in embryonic, but not adult, skeletal muscle. Activates TNNT2 exon 5 inclusion by antagonizing the repressive effect of PTB. Acts as both an activator and repressor of a pair of coregulated exons: promotes inclusion of the smooth muscle (SM) exon but exclusion of the non-muscle (NM) exon in actinin pre-mRNAs. Promotes inclusion of exonS 21 and exclusion of exon 5 of the NMDA receptor R1 pre-mRNA. Involved in the apoB RNA editing activity. Increases COX2 mRNA stability and inhibits COX2 mRNA translation in epithelial cells after radiation injury (By similarity). Modulates the cellular apoptosis program by regulating COX2-mediated prostaglandin E2 (PGE2) expression (By similarity). Binds to (CUG)n triplet repeats in the 3'-UTR of transcripts such as DMPK. Binds to the muscle-specific splicing enhancer (MSE) intronic sites flanking the TNNT2 alternative exon 5. Binds preferentially to UG-rich sequences, in particular UG repeat and UGUU motifs. Binds to apoB mRNA, specifically to AU-rich sequences located immediatly upstream of the edited cytidine. Binds AU-rich sequences in the 3'-UTR of COX2 mRNA (By similarity). Binds to an intronic RNA element responsible for the silencing of exon 21 splicing (By similarity). Binds to (CUG)n repeats (By similarity). May be a specific regulator of miRNA biogenesis. Binds to primary microRNA pri-MIR140 and, with CELF1, negatively regulates the processing to mature miRNA (PubMed:28431233). {ECO:0000250|UniProtKB:Q9Z0H4, ECO:0000269|PubMed:11158314, ECO:0000269|PubMed:11577082, ECO:0000269|PubMed:11931771, ECO:0000269|PubMed:12649496, ECO:0000269|PubMed:14973222, ECO:0000269|PubMed:15657417, ECO:0000269|PubMed:15894795, ECO:0000269|PubMed:28431233}.FUNCTION: Regulates CDK7, the catalytic subunit of the CDK-activating kinase (CAK) enzymatic complex. CAK activates the cyclin-associated kinases CDK1, CDK2, CDK4 and CDK6 by threonine phosphorylation. CAK complexed to the core-TFIIH basal transcription factor activates RNA polymerase II by serine phosphorylation of the repetitive C-terminal domain (CTD) of its large subunit (POLR2A), allowing its escape from the promoter and elongation of the transcripts. Involved in cell cycle control and in RNA transcription by RNA polymerase II. Its expression and activity are constant throughout the cell cycle. {ECO:0000269|PubMed:10024882, ECO:0000269|PubMed:7533895}.

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 CELF2-CCNH


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 CELF2-CCNH


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 CELF2-CCNH


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 CELF2-CCNH


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