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Fusion gene ID: 29680 |
FusionGeneSummary for PUM2_PPM1H |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PUM2_PPM1H | Fusion gene ID: 29680 | Hgene | Tgene | Gene symbol | PUM2 | PPM1H | Gene ID | 23369 | 57460 |
| Gene name | pumilio RNA binding family member 2 | protein phosphatase, Mg2+/Mn2+ dependent 1H | |
| Synonyms | PUMH2|PUML2 | ARHCL1|NERPP-2C|URCC2 | |
| Cytomap | 2p24.1 | 12q14.1-q14.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | pumilio homolog 2pumilio-2 | protein phosphatase 1Hneurite extension-related protein phosphatase related to PP2Cprotein phosphatase 1H (PP2C domain containing)ras homolog gene family, member C like 1 | |
| Modification date | 20180522 | 20180519 | |
| UniProtAcc | Q8TB72 | Q9ULR3 | |
| Ensembl transtripts involved in fusion gene | ENST00000338086, ENST00000319801, ENST00000361078, ENST00000536417, ENST00000403432, ENST00000420234, | ENST00000228705, ENST00000551214, | |
| Fusion gene scores | * DoF score | 12 X 11 X 8=1056 | 7 X 7 X 5=245 |
| # samples | 13 | 8 | |
| ** MAII score | log2(13/1056*10)=-3.02202630633 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/245*10)=-1.61470984411521 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PUM2 [Title/Abstract] AND PPM1H [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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| 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 |
| 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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS3.1 | BI022001 | PUM2 | chr2 | 20449465 | + | PPM1H | chr12 | 63063150 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| intron-intron | ENST00000338086 | ENST00000228705 | PUM2 | chr2 | 20449465 | + | PPM1H | chr12 | 63063150 | - |
| intron-intron | ENST00000338086 | ENST00000551214 | PUM2 | chr2 | 20449465 | + | PPM1H | chr12 | 63063150 | - |
| intron-intron | ENST00000319801 | ENST00000228705 | PUM2 | chr2 | 20449465 | + | PPM1H | chr12 | 63063150 | - |
| intron-intron | ENST00000319801 | ENST00000551214 | PUM2 | chr2 | 20449465 | + | PPM1H | chr12 | 63063150 | - |
| intron-intron | ENST00000361078 | ENST00000228705 | PUM2 | chr2 | 20449465 | + | PPM1H | chr12 | 63063150 | - |
| intron-intron | ENST00000361078 | ENST00000551214 | PUM2 | chr2 | 20449465 | + | PPM1H | chr12 | 63063150 | - |
| intron-intron | ENST00000536417 | ENST00000228705 | PUM2 | chr2 | 20449465 | + | PPM1H | chr12 | 63063150 | - |
| intron-intron | ENST00000536417 | ENST00000551214 | PUM2 | chr2 | 20449465 | + | PPM1H | chr12 | 63063150 | - |
| intron-intron | ENST00000403432 | ENST00000228705 | PUM2 | chr2 | 20449465 | + | PPM1H | chr12 | 63063150 | - |
| intron-intron | ENST00000403432 | ENST00000551214 | PUM2 | chr2 | 20449465 | + | PPM1H | chr12 | 63063150 | - |
| intron-intron | ENST00000420234 | ENST00000228705 | PUM2 | chr2 | 20449465 | + | PPM1H | chr12 | 63063150 | - |
| intron-intron | ENST00000420234 | ENST00000551214 | PUM2 | chr2 | 20449465 | + | PPM1H | chr12 | 63063150 | - |
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FusionProtFeatures for PUM2_PPM1H |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PUM2 | PPM1H |
| 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}. | Dephosphorylates CDKN1B at 'Thr-187', thus removing asignal for proteasomal degradation. {ECO:0000269|PubMed:22586611}. |
| Retention 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 . * 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_PPM1H |
| 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_PPM1H |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for PUM2_PPM1H |
| Drugs targeting genes involved in this fusion gene. (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_PPM1H |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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