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Fusion gene ID: 24843 |
FusionGeneSummary for NRF1_RHEB |
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Fusion gene information | Fusion gene name: NRF1_RHEB | Fusion gene ID: 24843 | Hgene | Tgene | Gene symbol | NRF1 | RHEB | Gene ID | 4899 | 6009 |
Gene name | nuclear respiratory factor 1 | Ras homolog, mTORC1 binding | |
Synonyms | ALPHA-PAL | RHEB2 | |
Cytomap | 7q32.2 | 7q36.1 | |
Type of gene | protein-coding | protein-coding | |
Description | nuclear respiratory factor 1alpha palindromic-binding protein | GTP-binding protein RhebRas homolog enriched in brain 2 | |
Modification date | 20180523 | 20180527 | |
UniProtAcc | Q16656 | Q15382 | |
Ensembl transtripts involved in fusion gene | ENST00000393232, ENST00000353868, ENST00000539636, ENST00000311967, ENST00000223190, ENST00000393230, ENST00000393231, ENST00000477428, | ENST00000262187, ENST00000472642, ENST00000496004, | |
Fusion gene scores | * DoF score | 8 X 5 X 4=160 | 5 X 5 X 4=100 |
# samples | 8 | 5 | |
** MAII score | log2(8/160*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/100*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: NRF1 [Title/Abstract] AND RHEB [Title/Abstract] AND fusion [Title/Abstract] | ||
Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain. |
* 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 |
![]() (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 | LD | SKCM | TCGA-D3-A3C3-06A | NRF1 | chr7 | 129357216 | + | RHEB | chr7 | 151181890 | - |
* 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 | ENST00000393232 | ENST00000262187 | NRF1 | chr7 | 129357216 | + | RHEB | chr7 | 151181890 | - |
5CDS-5UTR | ENST00000393232 | ENST00000472642 | NRF1 | chr7 | 129357216 | + | RHEB | chr7 | 151181890 | - |
5CDS-5UTR | ENST00000393232 | ENST00000496004 | NRF1 | chr7 | 129357216 | + | RHEB | chr7 | 151181890 | - |
Frame-shift | ENST00000353868 | ENST00000262187 | NRF1 | chr7 | 129357216 | + | RHEB | chr7 | 151181890 | - |
5CDS-5UTR | ENST00000353868 | ENST00000472642 | NRF1 | chr7 | 129357216 | + | RHEB | chr7 | 151181890 | - |
5CDS-5UTR | ENST00000353868 | ENST00000496004 | NRF1 | chr7 | 129357216 | + | RHEB | chr7 | 151181890 | - |
Frame-shift | ENST00000539636 | ENST00000262187 | NRF1 | chr7 | 129357216 | + | RHEB | chr7 | 151181890 | - |
5CDS-5UTR | ENST00000539636 | ENST00000472642 | NRF1 | chr7 | 129357216 | + | RHEB | chr7 | 151181890 | - |
5CDS-5UTR | ENST00000539636 | ENST00000496004 | NRF1 | chr7 | 129357216 | + | RHEB | chr7 | 151181890 | - |
Frame-shift | ENST00000311967 | ENST00000262187 | NRF1 | chr7 | 129357216 | + | RHEB | chr7 | 151181890 | - |
5CDS-5UTR | ENST00000311967 | ENST00000472642 | NRF1 | chr7 | 129357216 | + | RHEB | chr7 | 151181890 | - |
5CDS-5UTR | ENST00000311967 | ENST00000496004 | NRF1 | chr7 | 129357216 | + | RHEB | chr7 | 151181890 | - |
Frame-shift | ENST00000223190 | ENST00000262187 | NRF1 | chr7 | 129357216 | + | RHEB | chr7 | 151181890 | - |
5CDS-5UTR | ENST00000223190 | ENST00000472642 | NRF1 | chr7 | 129357216 | + | RHEB | chr7 | 151181890 | - |
5CDS-5UTR | ENST00000223190 | ENST00000496004 | NRF1 | chr7 | 129357216 | + | RHEB | chr7 | 151181890 | - |
Frame-shift | ENST00000393230 | ENST00000262187 | NRF1 | chr7 | 129357216 | + | RHEB | chr7 | 151181890 | - |
5CDS-5UTR | ENST00000393230 | ENST00000472642 | NRF1 | chr7 | 129357216 | + | RHEB | chr7 | 151181890 | - |
5CDS-5UTR | ENST00000393230 | ENST00000496004 | NRF1 | chr7 | 129357216 | + | RHEB | chr7 | 151181890 | - |
Frame-shift | ENST00000393231 | ENST00000262187 | NRF1 | chr7 | 129357216 | + | RHEB | chr7 | 151181890 | - |
5CDS-5UTR | ENST00000393231 | ENST00000472642 | NRF1 | chr7 | 129357216 | + | RHEB | chr7 | 151181890 | - |
5CDS-5UTR | ENST00000393231 | ENST00000496004 | NRF1 | chr7 | 129357216 | + | RHEB | chr7 | 151181890 | - |
intron-3CDS | ENST00000477428 | ENST00000262187 | NRF1 | chr7 | 129357216 | + | RHEB | chr7 | 151181890 | - |
intron-5UTR | ENST00000477428 | ENST00000472642 | NRF1 | chr7 | 129357216 | + | RHEB | chr7 | 151181890 | - |
intron-5UTR | ENST00000477428 | ENST00000496004 | NRF1 | chr7 | 129357216 | + | RHEB | chr7 | 151181890 | - |
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FusionProtFeatures for NRF1_RHEB |
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Hgene | Tgene |
NRF1 | RHEB |
Transcription factor that activates the expression ofthe EIF2S1 (EIF2-alpha) gene. Links the transcriptional modulationof key metabolic genes to cellular growth and development.Implicated in the control of nuclear genes required forrespiration, heme biosynthesis, and mitochondrial DNAtranscription and replication. | Activates the protein kinase activity of mTORC1, andthereby plays a role in the regulation of apoptosis. Stimulatesthe phosphorylation of S6K1 and EIF4EBP1 through activation ofmTORC1 signaling. Has low intrinsic GTPase activity.{ECO:0000269|PubMed:12271141, ECO:0000269|PubMed:12869586,ECO:0000269|PubMed:15340059, ECO:0000269|PubMed:15854902,ECO:0000269|PubMed:16098514, ECO:0000269|PubMed:20381137}. |
![]() * 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 NRF1_RHEB |
![]() (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 NRF1_RHEB |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
NRF1 | DYNLL1, MAFF, PPARGC1A, PPRC1, PARP1, CEBPB, CSNK2A1, CSNK2B, FHL2, SP4, TRAF2, POGZ, PLXDC1, FOXJ2, FOXK2, FOXP3, WDR59, DYNLL2 | RHEB | TSC2, PDE6D, ATM, ATR, MTOR, HRAS, RAF1, RAP1A, TSC1, RAB7A, RAB9A, RPTOR, A2M, ECSIT, PSEN2, APOE, PSEN1, BNIP3, BNIP3L, RABAC1, TRAF2, ARIH2, NCAM1, FKBP8, PLD1, RPS6KB1, VPS4A, ITGB8, TNF, LDHB, CREB3, DUSP19, SPATA19, NEDD9, NFATC2IP, RAC1, UBB, IL20RA, LAMP2, SRPRB, SLC15A1, ENPP7, LGALS7, TMEM52B, RELL2, HTT, TRIM25 |
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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 NRF1_RHEB |
![]() (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 NRF1_RHEB |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | NRF1 | C0006079 | Bowen's Disease | 1 | CTD_human |
Tgene | RHEB | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |