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 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:NDUFAF2-CCDC88A (FusionGDB2 ID:58123) |
Fusion Gene Summary for NDUFAF2-CCDC88A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: NDUFAF2-CCDC88A | Fusion gene ID: 58123 | Hgene | Tgene | Gene symbol | NDUFAF2 | CCDC88A | Gene ID | 91942 | 55704 |
| Gene name | NADH:ubiquinone oxidoreductase complex assembly factor 2 | coiled-coil domain containing 88A | |
| Synonyms | B17.2L|MC1DN10|MMTN|NDUFA12L|mimitin | APE|GIRDIN|GIV|GRDN|HkRP1|KIAA1212|PEHO|PEHOL | |
| Cytomap | 5q12.1 | 2p16.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | 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 | girdinAKT-phosphorylation enhancerHook-related protein 1g alpha-interacting vesicle-associated proteingirders of actin filaments | |
| Modification date | 20200313 | 20200329 | |
| UniProtAcc | Q8N183 | Q3V6T2 | |
| Ensembl transtripts involved in fusion gene | ENST00000511107, ENST00000512623, ENST00000296597, | ENST00000263630, ENST00000336838, ENST00000413716, ENST00000436346, ENST00000471947, ENST00000422883, | |
| Fusion gene scores | * DoF score | 4 X 3 X 3=36 | 13 X 12 X 5=780 |
| # samples | 4 | 14 | |
| ** MAII score | log2(4/36*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(14/780*10)=-2.47804729680464 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: NDUFAF2 [Title/Abstract] AND CCDC88A [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | NDUFAF2(60448774)-CCDC88A(55646307), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | |||
| * 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 | CCDC88A | GO:0007264 | small GTPase mediated signal transduction | 19211784|23509302|27621449|27864364 |
| Tgene | CCDC88A | GO:0032147 | activation of protein kinase activity | 21954290 |
| Tgene | CCDC88A | GO:0045742 | positive regulation of epidermal growth factor receptor signaling pathway | 20462955 |
| Tgene | CCDC88A | GO:0061024 | membrane organization | 15882442 |
| Tgene | CCDC88A | GO:0072660 | maintenance of protein location in plasma membrane | 20462955 |
| Fusion gene breakpoints across NDUFAF2 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene breakpoints across CCDC88A (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * 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. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS5.0 | N/A | T20134 | NDUFAF2 | chr5 | 60448774 | - | CCDC88A | chr2 | 55646307 | - |
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Fusion Gene ORF analysis for NDUFAF2-CCDC88A |
| 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-5UTR | ENST00000511107 | ENST00000263630 | NDUFAF2 | chr5 | 60448774 | - | CCDC88A | chr2 | 55646307 | - |
| 3UTR-5UTR | ENST00000511107 | ENST00000336838 | NDUFAF2 | chr5 | 60448774 | - | CCDC88A | chr2 | 55646307 | - |
| 3UTR-5UTR | ENST00000511107 | ENST00000413716 | NDUFAF2 | chr5 | 60448774 | - | CCDC88A | chr2 | 55646307 | - |
| 3UTR-5UTR | ENST00000511107 | ENST00000436346 | NDUFAF2 | chr5 | 60448774 | - | CCDC88A | chr2 | 55646307 | - |
| 3UTR-5UTR | ENST00000511107 | ENST00000471947 | NDUFAF2 | chr5 | 60448774 | - | CCDC88A | chr2 | 55646307 | - |
| 3UTR-5UTR | ENST00000512623 | ENST00000263630 | NDUFAF2 | chr5 | 60448774 | - | CCDC88A | chr2 | 55646307 | - |
| 3UTR-5UTR | ENST00000512623 | ENST00000336838 | NDUFAF2 | chr5 | 60448774 | - | CCDC88A | chr2 | 55646307 | - |
| 3UTR-5UTR | ENST00000512623 | ENST00000413716 | NDUFAF2 | chr5 | 60448774 | - | CCDC88A | chr2 | 55646307 | - |
| 3UTR-5UTR | ENST00000512623 | ENST00000436346 | NDUFAF2 | chr5 | 60448774 | - | CCDC88A | chr2 | 55646307 | - |
| 3UTR-5UTR | ENST00000512623 | ENST00000471947 | NDUFAF2 | chr5 | 60448774 | - | CCDC88A | chr2 | 55646307 | - |
| 3UTR-intron | ENST00000511107 | ENST00000422883 | NDUFAF2 | chr5 | 60448774 | - | CCDC88A | chr2 | 55646307 | - |
| 3UTR-intron | ENST00000512623 | ENST00000422883 | NDUFAF2 | chr5 | 60448774 | - | CCDC88A | chr2 | 55646307 | - |
| 5CDS-5UTR | ENST00000296597 | ENST00000263630 | NDUFAF2 | chr5 | 60448774 | - | CCDC88A | chr2 | 55646307 | - |
| 5CDS-5UTR | ENST00000296597 | ENST00000336838 | NDUFAF2 | chr5 | 60448774 | - | CCDC88A | chr2 | 55646307 | - |
| 5CDS-5UTR | ENST00000296597 | ENST00000413716 | NDUFAF2 | chr5 | 60448774 | - | CCDC88A | chr2 | 55646307 | - |
| 5CDS-5UTR | ENST00000296597 | ENST00000436346 | NDUFAF2 | chr5 | 60448774 | - | CCDC88A | chr2 | 55646307 | - |
| 5CDS-5UTR | ENST00000296597 | ENST00000471947 | NDUFAF2 | chr5 | 60448774 | - | CCDC88A | chr2 | 55646307 | - |
| 5CDS-intron | ENST00000296597 | ENST00000422883 | NDUFAF2 | chr5 | 60448774 | - | CCDC88A | chr2 | 55646307 | - |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for NDUFAF2-CCDC88A |
| FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page. |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
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Fusion Protein Features for NDUFAF2-CCDC88A |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:60448774/:55646307) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| NDUFAF2 | CCDC88A |
| FUNCTION: Acts as a molecular chaperone for mitochondrial complex I assembly (PubMed:16200211, PubMed:19384974). Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (PubMed:16200211, PubMed:27626371). {ECO:0000269|PubMed:16200211, ECO:0000269|PubMed:19384974, ECO:0000269|PubMed:27626371}. | FUNCTION: Bifunctional modulator of guanine nucleotide-binding proteins (G proteins) (PubMed:19211784, PubMed:27621449). Acts as a non-receptor guanine nucleotide exchange factor which binds to and activates guanine nucleotide-binding protein G(i) alpha subunits (PubMed:19211784, PubMed:21954290, PubMed:23509302, PubMed:25187647). Also acts as a guanine nucleotide dissociation inhibitor for guanine nucleotide-binding protein G(s) subunit alpha GNAS (PubMed:27621449). Essential for cell migration (PubMed:20462955, PubMed:16139227, PubMed:19211784, PubMed:21954290). Interacts in complex with G(i) alpha subunits with the EGFR receptor, retaining EGFR at the cell membrane following ligand stimulation and promoting EGFR signaling which triggers cell migration (PubMed:20462955). Binding to Gi-alpha subunits displaces the beta and gamma subunits from the heterotrimeric G-protein complex which enhances phosphoinositide 3-kinase (PI3K)-dependent phosphorylation and kinase activity of AKT1/PKB (PubMed:19211784). Phosphorylation of AKT1/PKB induces the phosphorylation of downstream effectors GSK3 and FOXO1/FKHR, and regulates DNA replication and cell proliferation (By similarity). Binds in its tyrosine-phosphorylated form to the phosphatidylinositol 3-kinase (PI3K) regulatory subunit PIK3R1 which enables recruitment of PIK3R1 to the EGFR receptor, enhancing PI3K activity and cell migration (PubMed:21954290). Plays a role as a key modulator of the AKT-mTOR signaling pathway, controlling the tempo of the process of newborn neuron integration during adult neurogenesis, including correct neuron positioning, dendritic development and synapse formation (By similarity). Inhibition of G(s) subunit alpha GNAS leads to reduced cellular levels of cAMP and suppression of cell proliferation (PubMed:27621449). Essential for the integrity of the actin cytoskeleton (PubMed:16139227, PubMed:19211784). Required for formation of actin stress fibers and lamellipodia (PubMed:15882442). May be involved in membrane sorting in the early endosome (PubMed:15882442). Plays a role in ciliogenesis and cilium morphology and positioning and this may partly be through regulation of the localization of scaffolding protein CROCC/Rootletin (PubMed:27623382). {ECO:0000250|UniProtKB:Q5SNZ0, ECO:0000269|PubMed:15882442, ECO:0000269|PubMed:16139227, ECO:0000269|PubMed:19211784, ECO:0000269|PubMed:20462955, ECO:0000269|PubMed:21954290, ECO:0000269|PubMed:23509302, ECO:0000269|PubMed:25187647, ECO:0000269|PubMed:27621449, ECO:0000269|PubMed:27623382}. |
| 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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Fusion Gene Sequence for NDUFAF2-CCDC88A |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
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Fusion Gene PPI Analysis for NDUFAF2-CCDC88A |
| 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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Related Drugs for NDUFAF2-CCDC88A |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for NDUFAF2-CCDC88A |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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