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Fusion gene ID: 32249 |
FusionGeneSummary for RRM2B_ZFPM2 |
Fusion gene summary |
Fusion gene information | Fusion gene name: RRM2B_ZFPM2 | Fusion gene ID: 32249 | Hgene | Tgene | Gene symbol | RRM2B | ZFPM2 | Gene ID | 50484 | 23414 |
Gene name | ribonucleotide reductase regulatory TP53 inducible subunit M2B | zinc finger protein, FOG family member 2 | |
Synonyms | MTDPS8A|MTDPS8B|P53R2 | DIH3|FOG2|SRXY9|ZC2HC11B|ZNF89B|hFOG-2 | |
Cytomap | 8q22.3 | 8q23.1 | |
Type of gene | protein-coding | protein-coding | |
Description | ribonucleoside-diphosphate reductase subunit M2 BTP53-inducible ribonucleotide reductase M2 Bp53-inducible ribonucleotide reductase small subunit 2 homologp53-inducible ribonucleotide reductase small subunit 2 short form betap53-inducible ribonucleoti | zinc finger protein ZFPM2FOG-2Friend of GATA2friend of GATA 2friend of GATA protein 2transcription factor GATA4, modulator ofzinc finger protein 89Bzinc finger protein, multitype 2 | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q7LG56 | Q8WW38 | |
Ensembl transtripts involved in fusion gene | ENST00000251810, ENST00000395912, ENST00000519317, ENST00000519962, | ENST00000407775, ENST00000520492, ENST00000517361, ENST00000522296, ENST00000378472, | |
Fusion gene scores | * DoF score | 2 X 1 X 2=4 | 8 X 5 X 5=200 |
# samples | 2 | 10 | |
** MAII score | log2(2/4*10)=2.32192809488736 | log2(10/200*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: RRM2B [Title/Abstract] AND ZFPM2 [Title/Abstract] AND fusion [Title/Abstract] | ||
Functional or gene categories assigned by FusionGDB annotation | DDR (DNA damage repair) gene involved fusion gene, retained protein feature but frameshift. |
* 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 |
Tgene | ZFPM2 | GO:0045892 | negative regulation of transcription, DNA-templated | 20206639 |
Tgene | ZFPM2 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 10438528 |
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 |
TCGA | RV | BRCA | TCGA-GI-A2C8-01A | RRM2B | chr8 | 103231042 | - | ZFPM2 | chr8 | 106431372 | + |
* 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 |
Frame-shift | ENST00000251810 | ENST00000407775 | RRM2B | chr8 | 103231042 | - | ZFPM2 | chr8 | 106431372 | + |
5CDS-5UTR | ENST00000251810 | ENST00000520492 | RRM2B | chr8 | 103231042 | - | ZFPM2 | chr8 | 106431372 | + |
5CDS-intron | ENST00000251810 | ENST00000517361 | RRM2B | chr8 | 103231042 | - | ZFPM2 | chr8 | 106431372 | + |
5CDS-intron | ENST00000251810 | ENST00000522296 | RRM2B | chr8 | 103231042 | - | ZFPM2 | chr8 | 106431372 | + |
5CDS-intron | ENST00000251810 | ENST00000378472 | RRM2B | chr8 | 103231042 | - | ZFPM2 | chr8 | 106431372 | + |
Frame-shift | ENST00000395912 | ENST00000407775 | RRM2B | chr8 | 103231042 | - | ZFPM2 | chr8 | 106431372 | + |
5CDS-5UTR | ENST00000395912 | ENST00000520492 | RRM2B | chr8 | 103231042 | - | ZFPM2 | chr8 | 106431372 | + |
5CDS-intron | ENST00000395912 | ENST00000517361 | RRM2B | chr8 | 103231042 | - | ZFPM2 | chr8 | 106431372 | + |
5CDS-intron | ENST00000395912 | ENST00000522296 | RRM2B | chr8 | 103231042 | - | ZFPM2 | chr8 | 106431372 | + |
5CDS-intron | ENST00000395912 | ENST00000378472 | RRM2B | chr8 | 103231042 | - | ZFPM2 | chr8 | 106431372 | + |
intron-3CDS | ENST00000519317 | ENST00000407775 | RRM2B | chr8 | 103231042 | - | ZFPM2 | chr8 | 106431372 | + |
intron-5UTR | ENST00000519317 | ENST00000520492 | RRM2B | chr8 | 103231042 | - | ZFPM2 | chr8 | 106431372 | + |
intron-intron | ENST00000519317 | ENST00000517361 | RRM2B | chr8 | 103231042 | - | ZFPM2 | chr8 | 106431372 | + |
intron-intron | ENST00000519317 | ENST00000522296 | RRM2B | chr8 | 103231042 | - | ZFPM2 | chr8 | 106431372 | + |
intron-intron | ENST00000519317 | ENST00000378472 | RRM2B | chr8 | 103231042 | - | ZFPM2 | chr8 | 106431372 | + |
intron-3CDS | ENST00000519962 | ENST00000407775 | RRM2B | chr8 | 103231042 | - | ZFPM2 | chr8 | 106431372 | + |
intron-5UTR | ENST00000519962 | ENST00000520492 | RRM2B | chr8 | 103231042 | - | ZFPM2 | chr8 | 106431372 | + |
intron-intron | ENST00000519962 | ENST00000517361 | RRM2B | chr8 | 103231042 | - | ZFPM2 | chr8 | 106431372 | + |
intron-intron | ENST00000519962 | ENST00000522296 | RRM2B | chr8 | 103231042 | - | ZFPM2 | chr8 | 106431372 | + |
intron-intron | ENST00000519962 | ENST00000378472 | RRM2B | chr8 | 103231042 | - | ZFPM2 | chr8 | 106431372 | + |
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FusionProtFeatures for RRM2B_ZFPM2 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
RRM2B | ZFPM2 |
Transcription regulator that plays a central role inheart morphogenesis and development of coronary vessels fromepicardium, by regulating genes that are essential duringcardiogenesis. Essential cofactor that acts via the formation of aheterodimer with transcription factors of the GATA family GATA4,GATA5 and GATA6. Such heterodimer can both activate or represstranscriptional activity, depending on the cell and promotercontext. Also required in gonadal differentiation, possibly beregulating expression of SRY. Probably acts a corepressor of NR2F2(By similarity). {ECO:0000250, ECO:0000269|PubMed:10438528}. |
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 RRM2B_ZFPM2 |
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 RRM2B_ZFPM2 |
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 |
RRM2B | RRM1, TP53, MDM2, ATM, AICDA, ORC4, RRM2B, RRM2, INPPL1, TMOD2, SRPK2, MCM2, ZNF131, FZR1, TPM2, SPAG9 | ZFPM2 | GATA1, GATA4, CTBP2, MTA1, MTA2, HDAC1, HDAC2, RBBP7, RBBP4, MTA3, ITSN1, UBQLN4, STAT3, IL32, DUSP23 |
- 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 RRM2B_ZFPM2 |
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 |
Hgene | RRM2B | Q7LG56 | DB00242 | Cladribine | Ribonucleoside-diphosphate reductase subunit M2 B | small molecule | approved|investigational |
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RelatedDiseases for RRM2B_ZFPM2 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | RRM2B | C2749861 | MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) | 3 | ORPHANET;UNIPROT |
Hgene | RRM2B | C0162670 | Mitochondrial Myopathies | 2 | CTD_human |
Hgene | RRM2B | C0001125 | Acidosis, Lactic | 1 | CTD_human;HPO |
Hgene | RRM2B | C0022658 | Kidney Diseases | 1 | CTD_human |
Hgene | RRM2B | C0026827 | Muscle hypotonia | 1 | CTD_human;HPO |
Hgene | RRM2B | C0872218 | MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME | 1 | CTD_human;ORPHANET |
Tgene | ZFPM2 | C0039685 | Tetralogy of Fallot | 2 | CTD_human;HPO;ORPHANET;UNIPROT |
Tgene | ZFPM2 | C4015129 | 46,XY SEX REVERSAL 9 | 2 | UNIPROT |
Tgene | ZFPM2 | C0019284 | Diaphragmatic Hernia | 1 | CTD_human |
Tgene | ZFPM2 | C1857586 | CONOTRUNCAL HEART MALFORMATIONS (disorder) | 1 | UNIPROT |