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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: 40545

FusionGeneSummary for UBFD1_PUM2

check button Fusion gene summary
Fusion gene informationFusion gene name: UBFD1_PUM2
Fusion gene ID: 40545
HgeneTgene
Gene symbol

UBFD1

PUM2

Gene ID

56061

23369

Gene nameubiquitin family domain containing 1pumilio RNA binding family member 2
SynonymsUBPHPUMH2|PUML2
Cytomap

16p12.2

2p24.1

Type of geneprotein-codingprotein-coding
Descriptionubiquitin domain-containing protein UBFD1ubiquitin-binding protein homologpumilio homolog 2pumilio-2
Modification date2018052220180522
UniProtAcc

O14562

Q8TB72

Ensembl transtripts involved in fusion geneENST00000219638, ENST00000395878, 
ENST00000567212, ENST00000567264, 
ENST00000571064, 		ENST00000338086, 
ENST00000319801, ENST00000361078, 
ENST00000536417, ENST00000403432, 
ENST00000420234, 
Fusion gene scores* DoF score2 X 2 X 2=88 X 7 X 5=280
# samples 210
** MAII scorelog2(2/8*10)=1.32192809488736log2(10/280*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: UBFD1 [Title/Abstract] AND PUM2 [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
TgenePUM2

GO:0010608

posttranscriptional regulation of gene expression

25100735

TgenePUM2

GO:0043488

regulation of mRNA stability

26724866

TgenePUM2

GO:0051983

regulation of chromosome segregation

26724866

TgenePUM2

GO:1900246

positive regulation of RIG-I signaling pathway

25340845


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
ChiTaRS3.1BF356582UBFD1chr16

23571089

-PUM2chr2

20489142

+
* 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
intron-intronENST00000219638ENST00000338086UBFD1chr16

23571089

-PUM2chr2

20489142

+
intron-intronENST00000219638ENST00000319801UBFD1chr16

23571089

-PUM2chr2

20489142

+
intron-intronENST00000219638ENST00000361078UBFD1chr16

23571089

-PUM2chr2

20489142

+
intron-intronENST00000219638ENST00000536417UBFD1chr16

23571089

-PUM2chr2

20489142

+
intron-intronENST00000219638ENST00000403432UBFD1chr16

23571089

-PUM2chr2

20489142

+
intron-intronENST00000219638ENST00000420234UBFD1chr16

23571089

-PUM2chr2

20489142

+
intron-intronENST00000395878ENST00000338086UBFD1chr16

23571089

-PUM2chr2

20489142

+
intron-intronENST00000395878ENST00000319801UBFD1chr16

23571089

-PUM2chr2

20489142

+
intron-intronENST00000395878ENST00000361078UBFD1chr16

23571089

-PUM2chr2

20489142

+
intron-intronENST00000395878ENST00000536417UBFD1chr16

23571089

-PUM2chr2

20489142

+
intron-intronENST00000395878ENST00000403432UBFD1chr16

23571089

-PUM2chr2

20489142

+
intron-intronENST00000395878ENST00000420234UBFD1chr16

23571089

-PUM2chr2

20489142

+
intron-intronENST00000567212ENST00000338086UBFD1chr16

23571089

-PUM2chr2

20489142

+
intron-intronENST00000567212ENST00000319801UBFD1chr16

23571089

-PUM2chr2

20489142

+
intron-intronENST00000567212ENST00000361078UBFD1chr16

23571089

-PUM2chr2

20489142

+
intron-intronENST00000567212ENST00000536417UBFD1chr16

23571089

-PUM2chr2

20489142

+
intron-intronENST00000567212ENST00000403432UBFD1chr16

23571089

-PUM2chr2

20489142

+
intron-intronENST00000567212ENST00000420234UBFD1chr16

23571089

-PUM2chr2

20489142

+
intron-intronENST00000567264ENST00000338086UBFD1chr16

23571089

-PUM2chr2

20489142

+
intron-intronENST00000567264ENST00000319801UBFD1chr16

23571089

-PUM2chr2

20489142

+
intron-intronENST00000567264ENST00000361078UBFD1chr16

23571089

-PUM2chr2

20489142

+
intron-intronENST00000567264ENST00000536417UBFD1chr16

23571089

-PUM2chr2

20489142

+
intron-intronENST00000567264ENST00000403432UBFD1chr16

23571089

-PUM2chr2

20489142

+
intron-intronENST00000567264ENST00000420234UBFD1chr16

23571089

-PUM2chr2

20489142

+
intron-intronENST00000571064ENST00000338086UBFD1chr16

23571089

-PUM2chr2

20489142

+
intron-intronENST00000571064ENST00000319801UBFD1chr16

23571089

-PUM2chr2

20489142

+
intron-intronENST00000571064ENST00000361078UBFD1chr16

23571089

-PUM2chr2

20489142

+
intron-intronENST00000571064ENST00000536417UBFD1chr16

23571089

-PUM2chr2

20489142

+
intron-intronENST00000571064ENST00000403432UBFD1chr16

23571089

-PUM2chr2

20489142

+
intron-intronENST00000571064ENST00000420234UBFD1chr16

23571089

-PUM2chr2

20489142

+

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FusionProtFeatures for UBFD1_PUM2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
UBFD1

O14562

PUM2

Q8TB72

May play a role as NF-kappa-B regulator.{ECO:0000269|PubMed:19285159}. Sequence-specific RNA-binding protein that acts as apost-transcriptional repressor by binding the 3'-UTR of mRNAtargets. Binds to an RNA consensus sequence, the Pumilio ResponseElement (PRE), 5'-UGUANAUA-3', that is related to the NanosResponse Element (NRE) (, PubMed:21397187). Mediates post-transcriptional repression of transcripts via differentmechanisms: acts via direct recruitment of the CCR4-POP2-NOTdeadenylase leading to translational inhibition and mRNAdegradation (PubMed:22955276). Also mediates deadenylation-independent repression by promoting accessibility of miRNAs(PubMed:18776931, PubMed:22345517). Acts as a post-transcriptionalrepressor of E2F3 mRNAs by binding to its 3'-UTR and facilitatingmiRNA regulation (PubMed:22345517). Plays a role in cytoplasmicsensing of viral infection (PubMed:25340845). Represses a programof genes necessary to maintain genomic stability such as keymitotic, DNA repair and DNA replication factors. Its ability torepress those target mRNAs is regulated by the lncRNA NORAD (non-coding RNA activated by DNA damage) which, due to its highabundance and multitude of PUMILIO binding sites, is able tosequester a significant fraction of PUM1 and PUM2 in the cytoplasm(PubMed:26724866). May regulate DCUN1D3 mRNA levels(PubMed:25349211). May support proliferation and self-renewal ofstem cells. Binds specifically to miRNA MIR199A precursor, withPUM1, regulates miRNA MIR199A expression at a postranscriptionallevel (PubMed:28431233). {ECO:0000269|PubMed:18776931,ECO:0000269|PubMed:21397187, ECO:0000269|PubMed:22345517,ECO:0000269|PubMed:22955276, ECO:0000269|PubMed:25340845,ECO:0000269|PubMed:25349211, ECO:0000269|PubMed:26724866,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 UBFD1_PUM2


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 UBFD1_PUM2


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 UBFD1_PUM2


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 UBFD1_PUM2


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