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Fusion gene ID: 29654 |
FusionGeneSummary for PUM1_IGHG1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PUM1_IGHG1 | Fusion gene ID: 29654 | Hgene | Tgene | Gene symbol | PUM1 | IGHG1 | Gene ID | 9698 | 3500 |
| Gene name | pumilio RNA binding family member 1 | immunoglobulin heavy constant gamma 1 (G1m marker) | |
| Synonyms | HSPUM|PUMH|PUMH1|PUML1|SCA47 | - | |
| Cytomap | 1p35.2 | 14q32.33 | |
| Type of gene | protein-coding | other | |
| Description | pumilio homolog 1pumilio-1 | constant region of heavy chain of IgG1immunoglobulin gamma 1 (Gm marker) | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q14671 | P01857 | |
| Ensembl transtripts involved in fusion gene | ENST00000424085, ENST00000257075, ENST00000373747, ENST00000426105, ENST00000440538, ENST00000373741, ENST00000423018, ENST00000373742, ENST00000490546, | ENST00000390548, | |
| Fusion gene scores | * DoF score | 26 X 16 X 15=6240 | 32 X 42 X 3=4032 |
| # samples | 34 | 46 | |
| ** MAII score | log2(34/6240*10)=-4.19793937761191 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(46/4032*10)=-3.13178987255554 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PUM1 [Title/Abstract] AND IGHG1 [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 | PUM1 | GO:0010608 | posttranscriptional regulation of gene expression | 25100735 |
| Hgene | PUM1 | GO:0043488 | regulation of mRNA stability | 26724866 |
| Hgene | PUM1 | GO:0051726 | regulation of cell cycle | 20818387 |
| Hgene | PUM1 | GO:0051983 | regulation of chromosome segregation | 26724866 |
| Hgene | PUM1 | GO:1900246 | positive regulation of RIG-I signaling pathway | 25340845 |
| Hgene | PUM1 | GO:2000637 | positive regulation of gene silencing by miRNA | 20818387|22345517 |
| 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 | BG058239 | PUM1 | chr1 | 31405779 | - | IGHG1 | chr22 | 23248781 | + |
| * 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 | ENST00000424085 | ENST00000390548 | PUM1 | chr1 | 31405779 | - | IGHG1 | chr22 | 23248781 | + |
| intron-intron | ENST00000257075 | ENST00000390548 | PUM1 | chr1 | 31405779 | - | IGHG1 | chr22 | 23248781 | + |
| intron-intron | ENST00000373747 | ENST00000390548 | PUM1 | chr1 | 31405779 | - | IGHG1 | chr22 | 23248781 | + |
| intron-intron | ENST00000426105 | ENST00000390548 | PUM1 | chr1 | 31405779 | - | IGHG1 | chr22 | 23248781 | + |
| intron-intron | ENST00000440538 | ENST00000390548 | PUM1 | chr1 | 31405779 | - | IGHG1 | chr22 | 23248781 | + |
| intron-intron | ENST00000373741 | ENST00000390548 | PUM1 | chr1 | 31405779 | - | IGHG1 | chr22 | 23248781 | + |
| intron-intron | ENST00000423018 | ENST00000390548 | PUM1 | chr1 | 31405779 | - | IGHG1 | chr22 | 23248781 | + |
| intron-intron | ENST00000373742 | ENST00000390548 | PUM1 | chr1 | 31405779 | - | IGHG1 | chr22 | 23248781 | + |
| intron-intron | ENST00000490546 | ENST00000390548 | PUM1 | chr1 | 31405779 | - | IGHG1 | chr22 | 23248781 | + |
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FusionProtFeatures for PUM1_IGHG1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PUM1 | IGHG1 |
| 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:21572425, PubMed:18328718,PubMed:21653694, PubMed:21397187). Mediates post-transcriptionalrepression of transcripts via different mechanisms: acts viadirect recruitment of the CCR4-POP2-NOT deadenylase leading totranslational inhibition and mRNA degradation (PubMed:22955276).Also mediates deadenylation-independent repression by promotingaccessibility of miRNAs (PubMed:18776931, PubMed:20818387,PubMed:20860814, PubMed:22345517). Following growth factorstimulation, phosphorylated and binds to the 3'-UTR of CDKN1B/p27mRNA, inducing a local conformational change that exposes miRNA-binding sites, promoting association of miR-221 and miR-222,efficient suppression of CDKN1B/p27 expression, and rapid entry tothe cell cycle (PubMed:20818387). Acts as a post-transcriptionalrepressor of E2F3 mRNAs by binding to its 3'-UTR and facilitatingmiRNA regulation (PubMed:22345517). Represses a program of genesnecessary to maintain genomic stability such as key mitotic, DNArepair and DNA replication factors. Its ability to repress thosetarget mRNAs is regulated by the lncRNA NORAD (non-coding RNAactivated by DNA damage) which, due to its high abundance andmultitude of PUMILIO binding sites, is able to sequester asignificant fraction of PUM1 and PUM2 in the cytoplasm(PubMed:26724866). Involved in neuronal functions by regulatingATXN1 mRNA levels: acts by binding to the 3'-UTR of ATXN1transcripts, leading to their down-regulation independently of themiRNA machinery (PubMed:25768905). Plays a role in cytoplasmicsensing of viral infection (PubMed:25340845). In testis, acts as apost-transcriptional regulator of spermatogenesis by binding tothe 3'-UTR of mRNAs coding for regulators of p53/TP53. Involved inembryonic stem cell renewal by facilitating the exit from theground state: acts by targeting mRNAs coding for naivepluripotency transcription factors and accelerates their down-regulation at the onset of differentiation (By similarity). Bindsspecifically to miRNA MIR199A precursor, with PUM2, regulatesmiRNA MIR199A expression at a postranscriptional level(PubMed:28431233). {ECO:0000250|UniProtKB:Q80U78,ECO:0000269|PubMed:18328718, ECO:0000269|PubMed:18776931,ECO:0000269|PubMed:20818387, ECO:0000269|PubMed:20860814,ECO:0000269|PubMed:21397187, ECO:0000269|PubMed:21572425,ECO:0000269|PubMed:21653694, ECO:0000269|PubMed:22345517,ECO:0000269|PubMed:22955276, ECO:0000269|PubMed:25340845,ECO:0000269|PubMed:25768905, ECO:0000269|PubMed:26724866,ECO:0000269|PubMed:28431233}. | Constant region of immunoglobulin heavy chains.Immunoglobulins, also known as antibodies, are membrane-bound orsecreted glycoproteins produced by B lymphocytes. In therecognition phase of humoral immunity, the membrane-boundimmunoglobulins serve as receptors which, upon binding of aspecific antigen, trigger the clonal expansion and differentiationof B lymphocytes into immunoglobulins-secreting plasma cells.Secreted immunoglobulins mediate the effector phase of humoralimmunity, which results in the elimination of bound antigens(PubMed:22158414, PubMed:20176268). The antigen binding site isformed by the variable domain of one heavy chain, together withthat of its associated light chain. Thus, each immunoglobulin hastwo antigen binding sites with remarkable affinity for aparticular antigen. The variable domains are assembled by aprocess called V-(D)-J rearrangement and can then be subjected tosomatic hypermutations which, after exposure to antigen andselection, allow affinity maturation for a particular antigen(PubMed:17576170, PubMed:20176268). {ECO:0000303|PubMed:17576170,ECO:0000303|PubMed:20176268, ECO:0000303|PubMed:22158414}. |
| 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 PUM1_IGHG1 |
| 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 PUM1_IGHG1 |
| 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 PUM1_IGHG1 |
| 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 PUM1_IGHG1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | IGHG1 | C0027121 | Myositis | 1 | CTD_human |
| Tgene | IGHG1 | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human |
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