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Fusion gene ID: 23778 |
FusionGeneSummary for NDFIP1_NDUFAF2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: NDFIP1_NDUFAF2 | Fusion gene ID: 23778 | Hgene | Tgene | Gene symbol | NDFIP1 | NDUFAF2 | Gene ID | 80762 | 91942 |
| Gene name | Nedd4 family interacting protein 1 | NADH:ubiquinone oxidoreductase complex assembly factor 2 | |
| Synonyms | N4WBP5 | B17.2L|MMTN|NDUFA12L|mimitin | |
| Cytomap | 5q31.3 | 5q12.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | NEDD4 family-interacting protein 1Nedd4 WW domain-binding protein 5breast cancer-associated protein SGA-1Mputative MAPK-activating protein PM13putative NF-kappa-B-activating protein 164putative NFKB and MAPK-activating protein | NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2Myc-induced mitochondrial proteinNADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2NADH dehydrogenase (ubiquinone) complex I, assembly factor 2NADH dehydrogenase 1 | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | Q9BT67 | Q8N183 | |
| Ensembl transtripts involved in fusion gene | ENST00000253814, ENST00000509436, | ENST00000296597, ENST00000511107, ENST00000512623, | |
| Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 6 X 4 X 3=72 |
| # samples | 3 | 6 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(6/72*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: NDFIP1 [Title/Abstract] AND NDUFAF2 [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 | NDFIP1 | GO:0031398 | positive regulation of protein ubiquitination | 25631046 |
| 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 | LD | BRCA | TCGA-A7-A56D-01A | NDFIP1 | chr5 | 141524241 | + | NDUFAF2 | chr5 | 60448531 | + |
| * 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 |
| 3UTR-3CDS | ENST00000253814 | ENST00000296597 | NDFIP1 | chr5 | 141524241 | + | NDUFAF2 | chr5 | 60448531 | + |
| 3UTR-3UTR | ENST00000253814 | ENST00000511107 | NDFIP1 | chr5 | 141524241 | + | NDUFAF2 | chr5 | 60448531 | + |
| 3UTR-3UTR | ENST00000253814 | ENST00000512623 | NDFIP1 | chr5 | 141524241 | + | NDUFAF2 | chr5 | 60448531 | + |
| intron-3CDS | ENST00000509436 | ENST00000296597 | NDFIP1 | chr5 | 141524241 | + | NDUFAF2 | chr5 | 60448531 | + |
| intron-3UTR | ENST00000509436 | ENST00000511107 | NDFIP1 | chr5 | 141524241 | + | NDUFAF2 | chr5 | 60448531 | + |
| intron-3UTR | ENST00000509436 | ENST00000512623 | NDFIP1 | chr5 | 141524241 | + | NDUFAF2 | chr5 | 60448531 | + |
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FusionProtFeatures for NDFIP1_NDUFAF2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| NDFIP1 | NDUFAF2 |
| Activates HECT domain-containing E3 ubiquitin-proteinligases, including NEDD4 and ITCH, and consequently modulates thestability of their targets. As a result, controls many cellularprocesses. Prevents chronic T-helper cell-mediated inflammation byactivating ITCH and thus controlling JUNB degradation (Bysimilarity). Promotes pancreatic beta cell death throughdegradation of JUNB and inhibition of the unfolded proteinresponse, leading to reduction of insulin secretion(PubMed:26319551). Restricts the production of proinflammatorycytokines in effector Th17 T-cells by promoting ITCH-mediatedubiquitination and degradation of RORC (By similarity). Togetherwith NDFIP2, limits the cytokine signaling and expansion ofeffector Th2 T-cells by promoting degradation of JAK1, probably byITCH- and NEDD4L-mediated ubiquitination (By similarity).Regulates peripheral T-cell tolerance to self and foreignantigens, forcing the exit of naive CD4+ T-cells from the cellcycle before they become effector T-cells (By similarity).Negatively regulates RLR-mediated antiviral response by promotingSMURF1-mediated ubiquitination and subsequent degradation of MAVS(PubMed:23087404). Negatively regulates KCNH2 potassium channelactivity by decreasing its cell-surface expression and interferingwith channel maturation through recruitment of NEDD4L to the Golgiapparatus where it mediates KCNH2 degradation (PubMed:26363003).In cortical neurons, mediates the ubiquitination of the divalentmetal transporter SLC11A2/DMT1 by NEDD4L, leading to its down-regulation and protection of the cells from cobalt and irontoxicity (PubMed:19706893). Important for normal development ofdendrites and dendritic spines in cortex (By similarity). Enhancesthe ubiquitination of BRAT1 mediated by: NEDD4, NEDD4L and ITCHand is required for the nuclear localization of ubiquitinatedBRAT1 (PubMed:25631046). Enhances the ITCH-mediated ubiquitinationof MAP3K7 by recruiting E2 ubiquitin-conjugating enzyme UBE2L3 toITCH (By similarity). Modulates EGFR signaling through multiplepathways. In particular, may regulate the ratio of AKT1-to-MAPK8signaling in response to EGF, acting on AKT1 probably through PTENdestabilization and on MAPK8 through ITCH-dependent MAP2K4inactivation. As a result, may control cell growth rate(PubMed:20534535). Inhibits cell proliferation by promoting PTENnuclear localization and changing its signaling specificity(PubMed:25801959). {ECO:0000250|UniProtKB:Q8R0W6,ECO:0000269|PubMed:19343052, ECO:0000269|PubMed:19706893,ECO:0000269|PubMed:20534535, ECO:0000269|PubMed:23087404,ECO:0000269|PubMed:25631046, ECO:0000269|PubMed:25801959,ECO:0000269|PubMed:26319551, ECO:0000269|PubMed:26363003}. | Acts as a molecular chaperone for mitochondrial complexI assembly (PubMed:16200211). Complex I functions in the transferof electrons from NADH to the respiratory chain. The immediateelectron acceptor for the enzyme is believed to be ubiquinone(PubMed:16200211, PubMed:27626371). {ECO:0000269|PubMed:16200211,ECO:0000269|PubMed:27626371}. |
| 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 NDFIP1_NDUFAF2 |
| 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 NDFIP1_NDUFAF2 |
| 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 |
| NDFIP1 | SLC11A2, PTEN, EGFR, NEDD4L, MAVS, SMURF1, PRRG3, TSPAN3, TMEM231, TGFBR2, TEX29, GINM1, WWP2, PTGFR, ZDHHC7, TNFRSF10B, HEPACAM2, OPN4, IQCF3, TMEM92, UNK, MAP3K7, ITCH, UBE2L3, NEDD4, SNCA, SLC1A1, MANSC1, LRRIQ1, MRAP2, C16orf58, IFNGR1, SLC20A1, ENTPD7, C14orf37, TPCN2, DRD2, CD83, IZUMO1, FAM8A1 | NDUFAF2 | ACOT13, CDV3, RPS24, RPS26, PPIF, SUGP2, SON, ATXN3, CHST15, COQ9, C15orf48, NDUFA4, PTPMT1, COQ2, CBLN4 |
| - 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 NDFIP1_NDUFAF2 |
| 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 NDFIP1_NDUFAF2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | NDUFAF2 | C0752109 | Brain Diseases, Metabolic, Inborn | 1 | CTD_human |
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