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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:NEK2-CBLL1 (FusionGDB2 ID:58163) |
Fusion Gene Summary for NEK2-CBLL1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: NEK2-CBLL1 | Fusion gene ID: 58163 | Hgene | Tgene | Gene symbol | NEK2 | CBLL1 | Gene ID | 4751 | 79872 |
| Gene name | NIMA related kinase 2 | Cbl proto-oncogene like 1 | |
| Synonyms | HsPK21|NEK2A|NLK1|PPP1R111|RP67 | HAKAI|RNF188 | |
| Cytomap | 1q32.3 | 7q22.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | serine/threonine-protein kinase Nek2NIMA (never in mitosis gene a)-related kinase 2nimA-like protein kinase 1nimA-related protein kinase 2protein phosphatase 1, regulatory subunit 111 | E3 ubiquitin-protein ligase HakaiCas-Br-M (murine) ecotropic retroviral transforming sequence-like 1Cbl proto-oncogene like 1, E3 ubiquitin protein ligaseCbl proto-oncogene, E3 ubiquitin protein ligase-like 1E-cadherin binding protein E7RING finger p | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | P51955 | Q75N03 | |
| Ensembl transtripts involved in fusion gene | ENST00000366999, ENST00000540251, ENST00000462283, ENST00000366998, | ENST00000440859, ENST00000222597, ENST00000415884, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 2 X 2 X 2=8 |
| # samples | 2 | 2 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: NEK2 [Title/Abstract] AND CBLL1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | NEK2(211844544)-CBLL1(107395863), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | NEK2-CBLL1 seems lost the major protein functional domain in Hgene partner, which is a kinase due to the frame-shifted ORF. NEK2-CBLL1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. NEK2-CBLL1 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. NEK2-CBLL1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF. | ||
| * 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 | NEK2 | GO:0006468 | protein phosphorylation | 21076410 |
| Hgene | NEK2 | GO:0007059 | chromosome segregation | 14978040 |
| Hgene | NEK2 | GO:0046777 | protein autophosphorylation | 17626005 |
| Hgene | NEK2 | GO:0051299 | centrosome separation | 18086858 |
| Tgene | CBLL1 | GO:0098609 | cell-cell adhesion | 11836526 |
| Fusion gene breakpoints across NEK2 (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 CBLL1 (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 | STAD | TCGA-BR-8080-01A | NEK2 | chr1 | 211844544 | - | CBLL1 | chr7 | 107395863 | + |
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Fusion Gene ORF analysis for NEK2-CBLL1 |
| 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 | ENST00000366999 | ENST00000440859 | NEK2 | chr1 | 211844544 | - | CBLL1 | chr7 | 107395863 | + |
| Frame-shift | ENST00000366999 | ENST00000222597 | NEK2 | chr1 | 211844544 | - | CBLL1 | chr7 | 107395863 | + |
| 5CDS-intron | ENST00000366999 | ENST00000415884 | NEK2 | chr1 | 211844544 | - | CBLL1 | chr7 | 107395863 | + |
| Frame-shift | ENST00000540251 | ENST00000440859 | NEK2 | chr1 | 211844544 | - | CBLL1 | chr7 | 107395863 | + |
| Frame-shift | ENST00000540251 | ENST00000222597 | NEK2 | chr1 | 211844544 | - | CBLL1 | chr7 | 107395863 | + |
| 5CDS-intron | ENST00000540251 | ENST00000415884 | NEK2 | chr1 | 211844544 | - | CBLL1 | chr7 | 107395863 | + |
| intron-3CDS | ENST00000462283 | ENST00000440859 | NEK2 | chr1 | 211844544 | - | CBLL1 | chr7 | 107395863 | + |
| intron-3CDS | ENST00000462283 | ENST00000222597 | NEK2 | chr1 | 211844544 | - | CBLL1 | chr7 | 107395863 | + |
| intron-intron | ENST00000462283 | ENST00000415884 | NEK2 | chr1 | 211844544 | - | CBLL1 | chr7 | 107395863 | + |
| Frame-shift | ENST00000366998 | ENST00000440859 | NEK2 | chr1 | 211844544 | - | CBLL1 | chr7 | 107395863 | + |
| Frame-shift | ENST00000366998 | ENST00000222597 | NEK2 | chr1 | 211844544 | - | CBLL1 | chr7 | 107395863 | + |
| 5CDS-intron | ENST00000366998 | ENST00000415884 | NEK2 | chr1 | 211844544 | - | CBLL1 | chr7 | 107395863 | + |
| 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 NEK2-CBLL1 |
| 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) |
| NEK2 | chr1 | 211844543 | - | CBLL1 | chr7 | 107395862 | + | 0.006241418 | 0.99375856 |
| NEK2 | chr1 | 211844543 | - | CBLL1 | chr7 | 107395862 | + | 0.006241418 | 0.99375856 |
| 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 NEK2-CBLL1 |
| Go to FGviewer for the breakpoints of :-: - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| NEK2 | CBLL1 |
| FUNCTION: Protein kinase which is involved in the control of centrosome separation and bipolar spindle formation in mitotic cells and chromatin condensation in meiotic cells. Regulates centrosome separation (essential for the formation of bipolar spindles and high-fidelity chromosome separation) by phosphorylating centrosomal proteins such as CROCC, CEP250 and NINL, resulting in their displacement from the centrosomes. Regulates kinetochore microtubule attachment stability in mitosis via phosphorylation of NDC80. Involved in regulation of mitotic checkpoint protein complex via phosphorylation of CDC20 and MAD2L1. Plays an active role in chromatin condensation during the first meiotic division through phosphorylation of HMGA2. Phosphorylates: PPP1CC; SGO1; NECAB3 and NPM1. Essential for localization of MAD2L1 to kinetochore and MAPK1 and NPM1 to the centrosome. Phosphorylates CEP68 and CNTLN directly or indirectly (PubMed:24554434). NEK2-mediated phosphorylation of CEP68 promotes CEP68 dissociation from the centrosome and its degradation at the onset of mitosis (PubMed:25704143). Involved in the regulation of centrosome disjunction (PubMed:26220856). {ECO:0000269|PubMed:11742531, ECO:0000269|PubMed:12857871, ECO:0000269|PubMed:14978040, ECO:0000269|PubMed:15358203, ECO:0000269|PubMed:15388344, ECO:0000269|PubMed:17283141, ECO:0000269|PubMed:17621308, ECO:0000269|PubMed:17626005, ECO:0000269|PubMed:18086858, ECO:0000269|PubMed:18297113, ECO:0000269|PubMed:20034488, ECO:0000269|PubMed:21076410, ECO:0000269|PubMed:24554434, ECO:0000269|PubMed:25704143, ECO:0000269|PubMed:26220856}.; FUNCTION: [Isoform 1]: Phosphorylates and activates NEK11 in G1/S-arrested cells. {ECO:0000269|PubMed:15161910}.; FUNCTION: [Isoform 2]: Not present in the nucleolus and, in contrast to isoform 1, does not phosphorylate and activate NEK11 in G1/S-arrested cells. {ECO:0000269|PubMed:15161910}. | FUNCTION: E3 ubiquitin-protein ligase that mediates ubiquitination of several tyrosine-phosphorylated Src substrates, including CDH1, CTTN and DOK1 (By similarity). Targets CDH1 for endocytosis and degradation (By similarity). Associated component of the WMM complex, a complex that mediates N6-methyladenosine (m6A) methylation of RNAs, a modification that plays a role in the efficiency of mRNA splicing and RNA processing (PubMed:29507755). Its function in the WMM complex is unknown (PubMed:29507755). {ECO:0000250|UniProtKB:Q9JIY2, ECO:0000269|PubMed:29507755}. |
| 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 NEK2-CBLL1 |
| 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 NEK2-CBLL1 |
| 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 NEK2-CBLL1 |
| 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 |
| Hgene | NEK2 | P51955 | DB12010 | Fostamatinib | Inhibitor | Small molecule | Approved|Investigational |
| Hgene | NEK2 | P51955 | DB12010 | Fostamatinib | Inhibitor | Small molecule | Approved|Investigational |
| Hgene | NEK2 | P51955 | DB12010 | Fostamatinib | Inhibitor | Small molecule | Approved|Investigational |
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Related Diseases for NEK2-CBLL1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | NEK2 | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |
| Hgene | NEK2 | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
| Hgene | NEK2 | C0035334 | Retinitis Pigmentosa | 1 | ORPHANET |
| Hgene | NEK2 | C2239176 | Liver carcinoma | 1 | CTD_human |
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