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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: 6125

FusionGeneSummary for CD109_CELF1

check button Fusion gene summary
Fusion gene informationFusion gene name: CD109_CELF1
Fusion gene ID: 6125
HgeneTgene
Gene symbol

CD109

CELF1

Gene ID

135228

10658

Gene nameCD109 moleculeCUGBP Elav-like family member 1
SynonymsCPAMD7|p180|r150BRUNOL2|CUG-BP|CUGBP|CUGBP1|EDEN-BP|NAB50|NAPOR|hNab50
Cytomap

6q13

11p11.2

Type of geneprotein-codingprotein-coding
DescriptionCD109 antigen150 kDa TGF-beta-1-binding proteinC3 and PZP-like alpha-2-macroglobulin domain-containing protein 7Gov platelet alloantigensactivated T-cell marker CD109platelet-specific Gov antigenCUGBP Elav-like family member 150 kDa nuclear polyadenylated RNA-binding proteinCELF-1CUG RNA-binding proteinCUG triplet repeat RNA-binding protein 1CUG-BP- and ETR-3-like factor 1CUG-BP1EDEN-BP homologRNA-binding protein BRUNOL-2bruno-like 2bru
Modification date2018052220180523
UniProtAcc

Q6YHK3

Q92879

Ensembl transtripts involved in fusion geneENST00000422508, ENST00000437994, 
ENST00000287097, ENST00000474094, 
ENST00000395290, ENST00000358597, 
ENST00000395292, ENST00000310513, 
ENST00000361904, ENST00000539455, 
ENST00000531165, ENST00000532048, 
Fusion gene scores* DoF score3 X 3 X 2=186 X 7 X 3=126
# samples 38
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(8/126*10)=-0.655351828612554
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CD109 [Title/Abstract] AND CELF1 [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
HgeneCD109

GO:0030512

negative regulation of transforming growth factor beta receptor signaling pathway

16754747

HgeneCD109

GO:0061045

negative regulation of wound healing

16754747

TgeneCELF1

GO:0006376

mRNA splice site selection

11158314

TgeneCELF1

GO:0043484

regulation of RNA splicing

16946708


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
ChiTaRS3.1BE090520CD109chr6

74537436

-CELF1chr11

47566169

-
* 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
3UTR-intronENST00000422508ENST00000395290CD109chr6

74537436

-CELF1chr11

47566169

-
3UTR-intronENST00000422508ENST00000358597CD109chr6

74537436

-CELF1chr11

47566169

-
3UTR-intronENST00000422508ENST00000395292CD109chr6

74537436

-CELF1chr11

47566169

-
3UTR-intronENST00000422508ENST00000310513CD109chr6

74537436

-CELF1chr11

47566169

-
3UTR-intronENST00000422508ENST00000361904CD109chr6

74537436

-CELF1chr11

47566169

-
3UTR-intronENST00000422508ENST00000539455CD109chr6

74537436

-CELF1chr11

47566169

-
3UTR-intronENST00000422508ENST00000531165CD109chr6

74537436

-CELF1chr11

47566169

-
3UTR-intronENST00000422508ENST00000532048CD109chr6

74537436

-CELF1chr11

47566169

-
3UTR-intronENST00000437994ENST00000395290CD109chr6

74537436

-CELF1chr11

47566169

-
3UTR-intronENST00000437994ENST00000358597CD109chr6

74537436

-CELF1chr11

47566169

-
3UTR-intronENST00000437994ENST00000395292CD109chr6

74537436

-CELF1chr11

47566169

-
3UTR-intronENST00000437994ENST00000310513CD109chr6

74537436

-CELF1chr11

47566169

-
3UTR-intronENST00000437994ENST00000361904CD109chr6

74537436

-CELF1chr11

47566169

-
3UTR-intronENST00000437994ENST00000539455CD109chr6

74537436

-CELF1chr11

47566169

-
3UTR-intronENST00000437994ENST00000531165CD109chr6

74537436

-CELF1chr11

47566169

-
3UTR-intronENST00000437994ENST00000532048CD109chr6

74537436

-CELF1chr11

47566169

-
3UTR-intronENST00000287097ENST00000395290CD109chr6

74537436

-CELF1chr11

47566169

-
3UTR-intronENST00000287097ENST00000358597CD109chr6

74537436

-CELF1chr11

47566169

-
3UTR-intronENST00000287097ENST00000395292CD109chr6

74537436

-CELF1chr11

47566169

-
3UTR-intronENST00000287097ENST00000310513CD109chr6

74537436

-CELF1chr11

47566169

-
3UTR-intronENST00000287097ENST00000361904CD109chr6

74537436

-CELF1chr11

47566169

-
3UTR-intronENST00000287097ENST00000539455CD109chr6

74537436

-CELF1chr11

47566169

-
3UTR-intronENST00000287097ENST00000531165CD109chr6

74537436

-CELF1chr11

47566169

-
3UTR-intronENST00000287097ENST00000532048CD109chr6

74537436

-CELF1chr11

47566169

-
intron-intronENST00000474094ENST00000395290CD109chr6

74537436

-CELF1chr11

47566169

-
intron-intronENST00000474094ENST00000358597CD109chr6

74537436

-CELF1chr11

47566169

-
intron-intronENST00000474094ENST00000395292CD109chr6

74537436

-CELF1chr11

47566169

-
intron-intronENST00000474094ENST00000310513CD109chr6

74537436

-CELF1chr11

47566169

-
intron-intronENST00000474094ENST00000361904CD109chr6

74537436

-CELF1chr11

47566169

-
intron-intronENST00000474094ENST00000539455CD109chr6

74537436

-CELF1chr11

47566169

-
intron-intronENST00000474094ENST00000531165CD109chr6

74537436

-CELF1chr11

47566169

-
intron-intronENST00000474094ENST00000532048CD109chr6

74537436

-CELF1chr11

47566169

-

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FusionProtFeatures for CD109_CELF1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CD109

Q6YHK3

CELF1

Q92879

RNA-binding protein implicated in the regulation ofseveral post-transcriptional events. Involved in pre-mRNAalternative splicing, mRNA translation and stability. Mediatesexon inclusion and/or exclusion in pre-mRNA that are subject totissue-specific and developmentally regulated alternativesplicing. Specifically activates exon 5 inclusion of cardiacisoforms of TNNT2 during heart remodeling at the juvenile to adulttransition. Acts as both an activator and repressor of a pair ofcoregulated exons: promotes inclusion of the smooth muscle (SM)exon but exclusion of the non-muscle (NM) exon in actinin pre-mRNAs. Activates SM exon 5 inclusion by antagonizing therepressive effect of PTB. Promotes exclusion of exon 11 of theINSR pre-mRNA. Inhibits, together with HNRNPH1, insulin receptor(IR) pre-mRNA exon 11 inclusion in myoblast. Increases translationand controls the choice of translation initiation codon of CEBPBmRNA. Increases mRNA translation of CEBPB in aging liver (Bysimilarity). Increases translation of CDKN1A mRNA by antagonizingthe repressive effect of CALR3. Mediates rapid cytoplasmic mRNAdeadenylation. Recruits the deadenylase PARN to the poly(A) tailof EDEN-containing mRNAs to promote their deadenylation. Requiredfor completion of spermatogenesis (By similarity). Binds to (CUG)ntriplet repeats in the 3'-UTR of transcripts such as DMPK and toBruno response elements (BREs). Binds to muscle-specific splicingenhancer (MSE) intronic sites flanking the alternative exon 5 ofTNNT2 pre-mRNA. Binds to AU-rich sequences (AREs or EDEN-like)localized in the 3'-UTR of JUN and FOS mRNAs. Binds to the IR RNA.Binds to the 5'-region of CDKN1A and CEBPB mRNAs. Binds with the5'-region of CEBPB mRNA in aging liver. May be a specificregulator of miRNA biogenesis. Binds to primary microRNA pri-MIR140 and, with CELF2, negatively regulates the processing tomature miRNA (PubMed:28431233). {ECO:0000250,ECO:0000269|PubMed:10536163, ECO:0000269|PubMed:11124939,ECO:0000269|PubMed:11158314, ECO:0000269|PubMed:12649496,ECO:0000269|PubMed:12799066, ECO:0000269|PubMed:14726956,ECO:0000269|PubMed:16601207, ECO:0000269|PubMed:16946708,ECO:0000269|PubMed:28431233}.

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 CD109_CELF1


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 CD109_CELF1


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 CD109_CELF1


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 CD109_CELF1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCD109C0009404Colorectal Neoplasms2CTD_human
HgeneCD109C1458155Mammary Neoplasms1CTD_human