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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: 29678

FusionGeneSummary for PUM2_MIPOL1

check button Fusion gene summary
Fusion gene informationFusion gene name: PUM2_MIPOL1
Fusion gene ID: 29678
HgeneTgene
Gene symbol

PUM2

MIPOL1

Gene ID

23369

145282

Gene namepumilio RNA binding family member 2mirror-image polydactyly 1
SynonymsPUMH2|PUML2CCDC193
Cytomap

2p24.1

14q13.3-q21.1

Type of geneprotein-codingprotein-coding
Descriptionpumilio homolog 2pumilio-2mirror-image polydactyly gene 1 protein
Modification date2018052220180519
UniProtAcc

Q8TB72

Q8TD10

Ensembl transtripts involved in fusion geneENST00000338086, ENST00000319801, 
ENST00000361078, ENST00000536417, 
ENST00000403432, ENST00000420234, 
ENST00000536774, ENST00000327441, 
ENST00000539062, ENST00000556451, 
ENST00000396294, ENST00000545536, 
ENST00000537471, ENST00000539174, 
Fusion gene scores* DoF score12 X 11 X 8=10569 X 7 X 7=441
# samples 139
** MAII scorelog2(13/1056*10)=-3.02202630633
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/441*10)=-2.29278174922785
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PUM2 [Title/Abstract] AND MIPOL1 [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
HgenePUM2

GO:0010608

posttranscriptional regulation of gene expression

25100735

HgenePUM2

GO:0043488

regulation of mRNA stability

26724866

HgenePUM2

GO:0051983

regulation of chromosome segregation

26724866

HgenePUM2

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
TCGARVPCPGTCGA-QT-A5XP-01APUM2chr2

20507739

-MIPOL1chr14

37969113

+
* 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
Frame-shiftENST00000338086ENST00000536774PUM2chr2

20507739

-MIPOL1chr14

37969113

+
Frame-shiftENST00000338086ENST00000327441PUM2chr2

20507739

-MIPOL1chr14

37969113

+
Frame-shiftENST00000338086ENST00000539062PUM2chr2

20507739

-MIPOL1chr14

37969113

+
Frame-shiftENST00000338086ENST00000556451PUM2chr2

20507739

-MIPOL1chr14

37969113

+
Frame-shiftENST00000338086ENST00000396294PUM2chr2

20507739

-MIPOL1chr14

37969113

+
Frame-shiftENST00000338086ENST00000545536PUM2chr2

20507739

-MIPOL1chr14

37969113

+
Frame-shiftENST00000338086ENST00000537471PUM2chr2

20507739

-MIPOL1chr14

37969113

+
5CDS-intronENST00000338086ENST00000539174PUM2chr2

20507739

-MIPOL1chr14

37969113

+
Frame-shiftENST00000319801ENST00000536774PUM2chr2

20507739

-MIPOL1chr14

37969113

+
Frame-shiftENST00000319801ENST00000327441PUM2chr2

20507739

-MIPOL1chr14

37969113

+
Frame-shiftENST00000319801ENST00000539062PUM2chr2

20507739

-MIPOL1chr14

37969113

+
Frame-shiftENST00000319801ENST00000556451PUM2chr2

20507739

-MIPOL1chr14

37969113

+
Frame-shiftENST00000319801ENST00000396294PUM2chr2

20507739

-MIPOL1chr14

37969113

+
Frame-shiftENST00000319801ENST00000545536PUM2chr2

20507739

-MIPOL1chr14

37969113

+
Frame-shiftENST00000319801ENST00000537471PUM2chr2

20507739

-MIPOL1chr14

37969113

+
5CDS-intronENST00000319801ENST00000539174PUM2chr2

20507739

-MIPOL1chr14

37969113

+
Frame-shiftENST00000361078ENST00000536774PUM2chr2

20507739

-MIPOL1chr14

37969113

+
Frame-shiftENST00000361078ENST00000327441PUM2chr2

20507739

-MIPOL1chr14

37969113

+
Frame-shiftENST00000361078ENST00000539062PUM2chr2

20507739

-MIPOL1chr14

37969113

+
Frame-shiftENST00000361078ENST00000556451PUM2chr2

20507739

-MIPOL1chr14

37969113

+
Frame-shiftENST00000361078ENST00000396294PUM2chr2

20507739

-MIPOL1chr14

37969113

+
Frame-shiftENST00000361078ENST00000545536PUM2chr2

20507739

-MIPOL1chr14

37969113

+
Frame-shiftENST00000361078ENST00000537471PUM2chr2

20507739

-MIPOL1chr14

37969113

+
5CDS-intronENST00000361078ENST00000539174PUM2chr2

20507739

-MIPOL1chr14

37969113

+
Frame-shiftENST00000536417ENST00000536774PUM2chr2

20507739

-MIPOL1chr14

37969113

+
Frame-shiftENST00000536417ENST00000327441PUM2chr2

20507739

-MIPOL1chr14

37969113

+
Frame-shiftENST00000536417ENST00000539062PUM2chr2

20507739

-MIPOL1chr14

37969113

+
Frame-shiftENST00000536417ENST00000556451PUM2chr2

20507739

-MIPOL1chr14

37969113

+
Frame-shiftENST00000536417ENST00000396294PUM2chr2

20507739

-MIPOL1chr14

37969113

+
Frame-shiftENST00000536417ENST00000545536PUM2chr2

20507739

-MIPOL1chr14

37969113

+
Frame-shiftENST00000536417ENST00000537471PUM2chr2

20507739

-MIPOL1chr14

37969113

+
5CDS-intronENST00000536417ENST00000539174PUM2chr2

20507739

-MIPOL1chr14

37969113

+
Frame-shiftENST00000403432ENST00000536774PUM2chr2

20507739

-MIPOL1chr14

37969113

+
Frame-shiftENST00000403432ENST00000327441PUM2chr2

20507739

-MIPOL1chr14

37969113

+
Frame-shiftENST00000403432ENST00000539062PUM2chr2

20507739

-MIPOL1chr14

37969113

+
Frame-shiftENST00000403432ENST00000556451PUM2chr2

20507739

-MIPOL1chr14

37969113

+
Frame-shiftENST00000403432ENST00000396294PUM2chr2

20507739

-MIPOL1chr14

37969113

+
Frame-shiftENST00000403432ENST00000545536PUM2chr2

20507739

-MIPOL1chr14

37969113

+
Frame-shiftENST00000403432ENST00000537471PUM2chr2

20507739

-MIPOL1chr14

37969113

+
5CDS-intronENST00000403432ENST00000539174PUM2chr2

20507739

-MIPOL1chr14

37969113

+
intron-3CDSENST00000420234ENST00000536774PUM2chr2

20507739

-MIPOL1chr14

37969113

+
intron-3CDSENST00000420234ENST00000327441PUM2chr2

20507739

-MIPOL1chr14

37969113

+
intron-3CDSENST00000420234ENST00000539062PUM2chr2

20507739

-MIPOL1chr14

37969113

+
intron-3CDSENST00000420234ENST00000556451PUM2chr2

20507739

-MIPOL1chr14

37969113

+
intron-3CDSENST00000420234ENST00000396294PUM2chr2

20507739

-MIPOL1chr14

37969113

+
intron-3CDSENST00000420234ENST00000545536PUM2chr2

20507739

-MIPOL1chr14

37969113

+
intron-3CDSENST00000420234ENST00000537471PUM2chr2

20507739

-MIPOL1chr14

37969113

+
intron-intronENST00000420234ENST00000539174PUM2chr2

20507739

-MIPOL1chr14

37969113

+

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FusionProtFeatures for PUM2_MIPOL1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PUM2

Q8TB72

MIPOL1

Q8TD10

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 PUM2_MIPOL1


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 PUM2_MIPOL1


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
PUM2PUM2, NANOS1, AURKA, MED4, ELAVL1, DAZ1, DAZL, NANOS3, BMI1, RBFOX2, ILF2, NTRK1, SAMD1, RBM45, CLASRP, ELAVL2, CELF5, STRBP, CDX1, LITAF, TRIM25, G3BP1MIPOL1LATS2, ARNT2, DGCR6, ATP5O, BYSL, CKS1B, UBE2K, MAGEA6, MCM7, MFAP1, CDK18, SMARCE1, CCT3, EIF4E2, USH1C, SSX3, NEBL, PPP1R13B, PRPF31, DIEXF, MYLIP, TTC12, RBM41, RCOR3, SCNM1, CCDC33, ENKD1, FAM161A, TCHP, ZGPAT, BEX2, FBF1, EAF1, HAUS1, MIPOL1, RTP5, LRRC39, SRPK2, DUSP13, RGS2, ZNF408, CCDC172, SH3BP5L, TSPYL4


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 PUM2_MIPOL1


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 PUM2_MIPOL1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneMIPOL1C0152427Polydactyly1CTD_human