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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 6723

FusionGeneSummary for CELF2_CCNH

check button Fusion gene summary
Fusion gene informationFusion gene name: CELF2_CCNH
Fusion gene ID: 6723
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 date2018052320180525
UniProtAcc

O95319

P51946

Ensembl transtripts involved in fusion geneENST00000379261, ENST00000416382, 
ENST00000450189, ENST00000542579, 
ENST00000399850, ENST00000417956, 
ENST00000354440, ENST00000427450, 
ENST00000315874, ENST00000608830, 
ENST00000609692, ENST00000354897, 
ENST00000537122, 		ENST00000508855, 
ENST00000256897, ENST00000504878, 
ENST00000513499, 
Fusion gene scores* DoF score11 X 11 X 3=3631 X 1 X 1=1
# samples 121
** MAII scorelog2(12/363*10)=-1.59693514238723
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(1/1*10)=3.32192809488736
Context

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

Functional or gene categories assigned by FusionGDB annotation
* 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 button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1BP873063CELF2chr10

11207645

+CCNHchr5

86708641

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-intronENST00000379261ENST00000508855CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000379261ENST00000256897CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000379261ENST00000504878CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000379261ENST00000513499CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-intronENST00000416382ENST00000508855CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000416382ENST00000256897CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000416382ENST00000504878CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000416382ENST00000513499CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-intronENST00000450189ENST00000508855CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000450189ENST00000256897CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000450189ENST00000504878CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000450189ENST00000513499CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-intronENST00000542579ENST00000508855CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000542579ENST00000256897CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000542579ENST00000504878CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000542579ENST00000513499CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-intronENST00000399850ENST00000508855CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000399850ENST00000256897CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000399850ENST00000504878CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000399850ENST00000513499CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-intronENST00000417956ENST00000508855CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000417956ENST00000256897CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000417956ENST00000504878CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000417956ENST00000513499CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-intronENST00000354440ENST00000508855CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000354440ENST00000256897CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000354440ENST00000504878CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000354440ENST00000513499CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-intronENST00000427450ENST00000508855CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000427450ENST00000256897CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000427450ENST00000504878CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000427450ENST00000513499CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-intronENST00000315874ENST00000508855CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000315874ENST00000256897CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000315874ENST00000504878CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000315874ENST00000513499CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-intronENST00000608830ENST00000508855CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000608830ENST00000256897CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000608830ENST00000504878CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000608830ENST00000513499CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-intronENST00000609692ENST00000508855CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000609692ENST00000256897CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000609692ENST00000504878CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000609692ENST00000513499CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-intronENST00000354897ENST00000508855CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000354897ENST00000256897CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000354897ENST00000504878CELF2chr10

11207645

+CCNHchr5

86708641

-
5CDS-5UTRENST00000354897ENST00000513499CELF2chr10

11207645

+CCNHchr5

86708641

-
5UTR-intronENST00000537122ENST00000508855CELF2chr10

11207645

+CCNHchr5

86708641

-
5UTR-5UTRENST00000537122ENST00000256897CELF2chr10

11207645

+CCNHchr5

86708641

-
5UTR-5UTRENST00000537122ENST00000504878CELF2chr10

11207645

+CCNHchr5

86708641

-
5UTR-5UTRENST00000537122ENST00000513499CELF2chr10

11207645

+CCNHchr5

86708641

-

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FusionProtFeatures for CELF2_CCNH


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CELF2

O95319

CCNH

P51946

Regulates CDK7, the catalytic subunit of the CDK-activating kinase (CAK) enzymatic complex. CAK activates thecyclin-associated kinases CDK1, CDK2, CDK4 and CDK6 by threoninephosphorylation. CAK complexed to the core-TFIIH basaltranscription factor activates RNA polymerase II by serinephosphorylation of the repetitive C-terminal domain (CTD) of itslarge subunit (POLR2A), allowing its escape from the promoter andelongation of the transcripts. Involved in cell cycle control andin RNA transcription by RNA polymerase II. Its expression andactivity 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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FusionGeneSequence for CELF2_CCNH


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI 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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RelatedDrugs for CELF2_CCNH


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for CELF2_CCNH


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCELF2C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneCELF2C0036341Schizophrenia1CTD_human
HgeneCELF2C0038325Stevens-Johnson Syndrome1CTD_human
TgeneCCNHC0024667Animal Mammary Neoplasms1CTD_human
TgeneCCNHC0024668Mammary Neoplasms, Experimental1CTD_human