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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:NDEL1-KIF1C (FusionGDB2 ID:57937) |
Fusion Gene Summary for NDEL1-KIF1C |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: NDEL1-KIF1C | Fusion gene ID: 57937 | Hgene | Tgene | Gene symbol | NDEL1 | KIF1C | Gene ID | 81565 | 10749 |
| Gene name | nudE neurodevelopment protein 1 like 1 | kinesin family member 1C | |
| Synonyms | EOPA|MITAP1|NDE1L1|NDE2|NUDEL | LTXS1|SATX2|SAX2|SPAX2|SPG58 | |
| Cytomap | 17p13.1 | 17p13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | nuclear distribution protein nudE-like 1endooligopeptidase Amitosin-associated protein 1mitosin-associated protein MITAP1nudE nuclear distribution E homolog-like 1nudE nuclear distribution gene E homolog-like 1protein Nudel | kinesin-like protein KIF1Cspastic ataxia 2 (autosomal recessive) | |
| Modification date | 20200327 | 20200313 | |
| UniProtAcc | Q9GZM8 | O43896 | |
| Ensembl transtripts involved in fusion gene | ENST00000583066, ENST00000299734, ENST00000334527, ENST00000380025, ENST00000402554, ENST00000585098, | ENST00000320785, ENST00000573815, | |
| Fusion gene scores | * DoF score | 10 X 7 X 8=560 | 6 X 5 X 4=120 |
| # samples | 10 | 6 | |
| ** MAII score | log2(10/560*10)=-2.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/120*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: NDEL1 [Title/Abstract] AND KIF1C [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | KIF1C(4918132)-NDEL1(8347578), # samples:3 NDEL1(8339363)-KIF1C(4918038), # 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 |
| Fusion gene breakpoints across NDEL1 (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 KIF1C (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 |
| ChimerDB4 | PRAD | TCGA-J4-A67K-01A | NDEL1 | chr17 | 8339363 | + | KIF1C | chr17 | 4918038 | + |
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Fusion Gene ORF analysis for NDEL1-KIF1C |
| 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 | ENST00000583066 | ENST00000320785 | NDEL1 | chr17 | 8339363 | + | KIF1C | chr17 | 4918038 | + |
| 3UTR-3UTR | ENST00000583066 | ENST00000573815 | NDEL1 | chr17 | 8339363 | + | KIF1C | chr17 | 4918038 | + |
| 5UTR-3CDS | ENST00000299734 | ENST00000320785 | NDEL1 | chr17 | 8339363 | + | KIF1C | chr17 | 4918038 | + |
| 5UTR-3CDS | ENST00000334527 | ENST00000320785 | NDEL1 | chr17 | 8339363 | + | KIF1C | chr17 | 4918038 | + |
| 5UTR-3CDS | ENST00000380025 | ENST00000320785 | NDEL1 | chr17 | 8339363 | + | KIF1C | chr17 | 4918038 | + |
| 5UTR-3CDS | ENST00000402554 | ENST00000320785 | NDEL1 | chr17 | 8339363 | + | KIF1C | chr17 | 4918038 | + |
| 5UTR-3CDS | ENST00000585098 | ENST00000320785 | NDEL1 | chr17 | 8339363 | + | KIF1C | chr17 | 4918038 | + |
| 5UTR-3UTR | ENST00000299734 | ENST00000573815 | NDEL1 | chr17 | 8339363 | + | KIF1C | chr17 | 4918038 | + |
| 5UTR-3UTR | ENST00000334527 | ENST00000573815 | NDEL1 | chr17 | 8339363 | + | KIF1C | chr17 | 4918038 | + |
| 5UTR-3UTR | ENST00000380025 | ENST00000573815 | NDEL1 | chr17 | 8339363 | + | KIF1C | chr17 | 4918038 | + |
| 5UTR-3UTR | ENST00000402554 | ENST00000573815 | NDEL1 | chr17 | 8339363 | + | KIF1C | chr17 | 4918038 | + |
| 5UTR-3UTR | ENST00000585098 | ENST00000573815 | NDEL1 | chr17 | 8339363 | + | KIF1C | chr17 | 4918038 | + |
| 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 NDEL1-KIF1C |
| 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) |
| NDEL1 | chr17 | 8339363 | + | KIF1C | chr17 | 4918037 | + | 8.75E-06 | 0.9999913 |
| NDEL1 | chr17 | 8339363 | + | KIF1C | chr17 | 4918037 | + | 8.75E-06 | 0.9999913 |
| 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 NDEL1-KIF1C |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:4918132/:8347578) - 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 |
| NDEL1 | KIF1C |
| FUNCTION: Required for organization of the cellular microtubule array and microtubule anchoring at the centrosome. May regulate microtubule organization at least in part by targeting the microtubule severing protein KATNA1 to the centrosome. Also positively regulates the activity of the minus-end directed microtubule motor protein dynein. May enhance dynein-mediated microtubule sliding by targeting dynein to the microtubule plus ends. Required for several dynein- and microtubule-dependent processes such as the maintenance of Golgi integrity, the centripetal motion of secretory vesicles and the coupling of the nucleus and centrosome. Also required during brain development for the migration of newly formed neurons from the ventricular/subventricular zone toward the cortical plate. Plays a role, together with DISC1, in the regulation of neurite outgrowth. Required for mitosis in some cell types but appears to be dispensible for mitosis in cortical neuronal progenitors, which instead requires NDE1. Facilitates the polymerization of neurofilaments from the individual subunits NEFH and NEFL. Positively regulates lysosome peripheral distribution and ruffled border formation in osteoclasts (By similarity). {ECO:0000250|UniProtKB:Q9ERR1, ECO:0000269|PubMed:12556484, ECO:0000269|PubMed:14970193, ECO:0000269|PubMed:16291865, ECO:0000269|PubMed:17600710}. | FUNCTION: Motor required for the retrograde transport of Golgi vesicles to the endoplasmic reticulum. Has a microtubule plus end-directed motility. {ECO:0000269|PubMed:9685376}. |
| 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 NDEL1-KIF1C |
| 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 NDEL1-KIF1C |
| 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 NDEL1-KIF1C |
| 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 NDEL1-KIF1C |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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