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Fusion gene ID: 29678 |
FusionGeneSummary for PUM2_MIPOL1 |
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Fusion gene information | Fusion gene name: PUM2_MIPOL1 | Fusion gene ID: 29678 | Hgene | Tgene | Gene symbol | PUM2 | MIPOL1 | Gene ID | 23369 | 145282 |
Gene name | pumilio RNA binding family member 2 | mirror-image polydactyly 1 | |
Synonyms | PUMH2|PUML2 | CCDC193 | |
Cytomap | 2p24.1 | 14q13.3-q21.1 | |
Type of gene | protein-coding | protein-coding | |
Description | pumilio homolog 2pumilio-2 | mirror-image polydactyly gene 1 protein | |
Modification date | 20180522 | 20180519 | |
UniProtAcc | Q8TB72 | Q8TD10 | |
Ensembl transtripts involved in fusion gene | ENST00000338086, ENST00000319801, ENST00000361078, ENST00000536417, ENST00000403432, ENST00000420234, | ENST00000536774, ENST00000327441, ENST00000539062, ENST00000556451, ENST00000396294, ENST00000545536, ENST00000537471, ENST00000539174, | |
Fusion gene scores | * DoF score | 12 X 11 X 8=1056 | 9 X 7 X 7=441 |
# samples | 13 | 9 | |
** MAII score | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | PUM2 | GO:0010608 | posttranscriptional regulation of gene expression | 25100735 |
Hgene | PUM2 | GO:0043488 | regulation of mRNA stability | 26724866 |
Hgene | PUM2 | GO:0051983 | regulation of chromosome segregation | 26724866 |
Hgene | PUM2 | GO:1900246 | positive regulation of RIG-I signaling pathway | 25340845 |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | RV | PCPG | TCGA-QT-A5XP-01A | PUM2 | chr2 | 20507739 | - | MIPOL1 | chr14 | 37969113 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
Frame-shift | ENST00000338086 | ENST00000536774 | PUM2 | chr2 | 20507739 | - | MIPOL1 | chr14 | 37969113 | + |
Frame-shift | ENST00000338086 | ENST00000327441 | PUM2 | chr2 | 20507739 | - | MIPOL1 | chr14 | 37969113 | + |
Frame-shift | ENST00000338086 | ENST00000539062 | PUM2 | chr2 | 20507739 | - | MIPOL1 | chr14 | 37969113 | + |
Frame-shift | ENST00000338086 | ENST00000556451 | PUM2 | chr2 | 20507739 | - | MIPOL1 | chr14 | 37969113 | + |
Frame-shift | ENST00000338086 | ENST00000396294 | PUM2 | chr2 | 20507739 | - | MIPOL1 | chr14 | 37969113 | + |
Frame-shift | ENST00000338086 | ENST00000545536 | PUM2 | chr2 | 20507739 | - | MIPOL1 | chr14 | 37969113 | + |
Frame-shift | ENST00000338086 | ENST00000537471 | PUM2 | chr2 | 20507739 | - | MIPOL1 | chr14 | 37969113 | + |
5CDS-intron | ENST00000338086 | ENST00000539174 | PUM2 | chr2 | 20507739 | - | MIPOL1 | chr14 | 37969113 | + |
Frame-shift | ENST00000319801 | ENST00000536774 | PUM2 | chr2 | 20507739 | - | MIPOL1 | chr14 | 37969113 | + |
Frame-shift | ENST00000319801 | ENST00000327441 | PUM2 | chr2 | 20507739 | - | MIPOL1 | chr14 | 37969113 | + |
Frame-shift | ENST00000319801 | ENST00000539062 | PUM2 | chr2 | 20507739 | - | MIPOL1 | chr14 | 37969113 | + |
Frame-shift | ENST00000319801 | ENST00000556451 | PUM2 | chr2 | 20507739 | - | MIPOL1 | chr14 | 37969113 | + |
Frame-shift | ENST00000319801 | ENST00000396294 | PUM2 | chr2 | 20507739 | - | MIPOL1 | chr14 | 37969113 | + |
Frame-shift | ENST00000319801 | ENST00000545536 | PUM2 | chr2 | 20507739 | - | MIPOL1 | chr14 | 37969113 | + |
Frame-shift | ENST00000319801 | ENST00000537471 | PUM2 | chr2 | 20507739 | - | MIPOL1 | chr14 | 37969113 | + |
5CDS-intron | ENST00000319801 | ENST00000539174 | PUM2 | chr2 | 20507739 | - | MIPOL1 | chr14 | 37969113 | + |
Frame-shift | ENST00000361078 | ENST00000536774 | PUM2 | chr2 | 20507739 | - | MIPOL1 | chr14 | 37969113 | + |
Frame-shift | ENST00000361078 | ENST00000327441 | PUM2 | chr2 | 20507739 | - | MIPOL1 | chr14 | 37969113 | + |
Frame-shift | ENST00000361078 | ENST00000539062 | PUM2 | chr2 | 20507739 | - | MIPOL1 | chr14 | 37969113 | + |
Frame-shift | ENST00000361078 | ENST00000556451 | PUM2 | chr2 | 20507739 | - | MIPOL1 | chr14 | 37969113 | + |
Frame-shift | ENST00000361078 | ENST00000396294 | PUM2 | chr2 | 20507739 | - | MIPOL1 | chr14 | 37969113 | + |
Frame-shift | ENST00000361078 | ENST00000545536 | PUM2 | chr2 | 20507739 | - | MIPOL1 | chr14 | 37969113 | + |
Frame-shift | ENST00000361078 | ENST00000537471 | PUM2 | chr2 | 20507739 | - | MIPOL1 | chr14 | 37969113 | + |
5CDS-intron | ENST00000361078 | ENST00000539174 | PUM2 | chr2 | 20507739 | - | MIPOL1 | chr14 | 37969113 | + |
Frame-shift | ENST00000536417 | ENST00000536774 | PUM2 | chr2 | 20507739 | - | MIPOL1 | chr14 | 37969113 | + |
Frame-shift | ENST00000536417 | ENST00000327441 | PUM2 | chr2 | 20507739 | - | MIPOL1 | chr14 | 37969113 | + |
Frame-shift | ENST00000536417 | ENST00000539062 | PUM2 | chr2 | 20507739 | - | MIPOL1 | chr14 | 37969113 | + |
Frame-shift | ENST00000536417 | ENST00000556451 | PUM2 | chr2 | 20507739 | - | MIPOL1 | chr14 | 37969113 | + |
Frame-shift | ENST00000536417 | ENST00000396294 | PUM2 | chr2 | 20507739 | - | MIPOL1 | chr14 | 37969113 | + |
Frame-shift | ENST00000536417 | ENST00000545536 | PUM2 | chr2 | 20507739 | - | MIPOL1 | chr14 | 37969113 | + |
Frame-shift | ENST00000536417 | ENST00000537471 | PUM2 | chr2 | 20507739 | - | MIPOL1 | chr14 | 37969113 | + |
5CDS-intron | ENST00000536417 | ENST00000539174 | PUM2 | chr2 | 20507739 | - | MIPOL1 | chr14 | 37969113 | + |
Frame-shift | ENST00000403432 | ENST00000536774 | PUM2 | chr2 | 20507739 | - | MIPOL1 | chr14 | 37969113 | + |
Frame-shift | ENST00000403432 | ENST00000327441 | PUM2 | chr2 | 20507739 | - | MIPOL1 | chr14 | 37969113 | + |
Frame-shift | ENST00000403432 | ENST00000539062 | PUM2 | chr2 | 20507739 | - | MIPOL1 | chr14 | 37969113 | + |
Frame-shift | ENST00000403432 | ENST00000556451 | PUM2 | chr2 | 20507739 | - | MIPOL1 | chr14 | 37969113 | + |
Frame-shift | ENST00000403432 | ENST00000396294 | PUM2 | chr2 | 20507739 | - | MIPOL1 | chr14 | 37969113 | + |
Frame-shift | ENST00000403432 | ENST00000545536 | PUM2 | chr2 | 20507739 | - | MIPOL1 | chr14 | 37969113 | + |
Frame-shift | ENST00000403432 | ENST00000537471 | PUM2 | chr2 | 20507739 | - | MIPOL1 | chr14 | 37969113 | + |
5CDS-intron | ENST00000403432 | ENST00000539174 | PUM2 | chr2 | 20507739 | - | MIPOL1 | chr14 | 37969113 | + |
intron-3CDS | ENST00000420234 | ENST00000536774 | PUM2 | chr2 | 20507739 | - | MIPOL1 | chr14 | 37969113 | + |
intron-3CDS | ENST00000420234 | ENST00000327441 | PUM2 | chr2 | 20507739 | - | MIPOL1 | chr14 | 37969113 | + |
intron-3CDS | ENST00000420234 | ENST00000539062 | PUM2 | chr2 | 20507739 | - | MIPOL1 | chr14 | 37969113 | + |
intron-3CDS | ENST00000420234 | ENST00000556451 | PUM2 | chr2 | 20507739 | - | MIPOL1 | chr14 | 37969113 | + |
intron-3CDS | ENST00000420234 | ENST00000396294 | PUM2 | chr2 | 20507739 | - | MIPOL1 | chr14 | 37969113 | + |
intron-3CDS | ENST00000420234 | ENST00000545536 | PUM2 | chr2 | 20507739 | - | MIPOL1 | chr14 | 37969113 | + |
intron-3CDS | ENST00000420234 | ENST00000537471 | PUM2 | chr2 | 20507739 | - | MIPOL1 | chr14 | 37969113 | + |
intron-intron | ENST00000420234 | ENST00000539174 | PUM2 | chr2 | 20507739 | - | MIPOL1 | chr14 | 37969113 | + |
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FusionProtFeatures for PUM2_MIPOL1 |
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Hgene | Tgene |
PUM2 | MIPOL1 |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for PUM2_MIPOL1 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
PUM2 | PUM2, NANOS1, AURKA, MED4, ELAVL1, DAZ1, DAZL, NANOS3, BMI1, RBFOX2, ILF2, NTRK1, SAMD1, RBM45, CLASRP, ELAVL2, CELF5, STRBP, CDX1, LITAF, TRIM25, G3BP1 | MIPOL1 | LATS2, 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 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for PUM2_MIPOL1 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for PUM2_MIPOL1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | MIPOL1 | C0152427 | Polydactyly | 1 | CTD_human |