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Fusion gene ID: 24003 |
FusionGeneSummary for NEK1_APPL1 |
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Fusion gene information | Fusion gene name: NEK1_APPL1 | Fusion gene ID: 24003 | Hgene | Tgene | Gene symbol | NEK1 | APPL1 | Gene ID | 4750 | 26060 |
Gene name | NIMA related kinase 1 | adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 | |
Synonyms | ALS24|NY-REN-55|SRPS2|SRPS2A|SRTD6 | APPL|DIP13alpha|MODY14 | |
Cytomap | 4q33 | 3p14.3 | |
Type of gene | protein-coding | protein-coding | |
Description | serine/threonine-protein kinase Nek1NIMA (never in mitosis gene a)-related kinase 1never in mitosis A-related kinase 1nimA-related protein kinase 1protein-serine/threonine kinaserenal carcinoma antigen NY-REN-55 | DCC-interacting protein 13-alphaAKT2 interactoradapter protein containing PH domain, PTB domain and leucine zipper motif 1adaptor protein containing pH domain, PTB domain and leucine zipper motif 1adaptor protein, phosphotyrosine interaction, PH domai | |
Modification date | 20180523 | 20180528 | |
UniProtAcc | Q96PY6 | Q9UKG1 | |
Ensembl transtripts involved in fusion gene | ENST00000439128, ENST00000511633, ENST00000510533, ENST00000507142, ENST00000512193, | ENST00000288266, | |
Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 3 X 3 X 2=18 |
# samples | 4 | 3 | |
** MAII score | log2(4/18*10)=1.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: NEK1 [Title/Abstract] AND APPL1 [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | NEK1 | GO:0006468 | protein phosphorylation | 19158487 |
Tgene | APPL1 | GO:0008283 | cell proliferation | 15016378 |
![]() (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 |
ChiTaRS3.1 | N56837 | NEK1 | chr4 | 170446574 | - | APPL1 | chr3 | 57306892 | + |
* 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 |
intron-3UTR | ENST00000439128 | ENST00000288266 | NEK1 | chr4 | 170446574 | - | APPL1 | chr3 | 57306892 | + |
intron-3UTR | ENST00000511633 | ENST00000288266 | NEK1 | chr4 | 170446574 | - | APPL1 | chr3 | 57306892 | + |
intron-3UTR | ENST00000510533 | ENST00000288266 | NEK1 | chr4 | 170446574 | - | APPL1 | chr3 | 57306892 | + |
intron-3UTR | ENST00000507142 | ENST00000288266 | NEK1 | chr4 | 170446574 | - | APPL1 | chr3 | 57306892 | + |
intron-3UTR | ENST00000512193 | ENST00000288266 | NEK1 | chr4 | 170446574 | - | APPL1 | chr3 | 57306892 | + |
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FusionProtFeatures for NEK1_APPL1 |
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Hgene | Tgene |
NEK1 | APPL1 |
Adapter protein that interacts with proteins involved indifferent cellular signaling pathways. Required for the regulationof cell proliferation in response to extracellular signals from anearly endosomal compartment. Links Rab5 to nuclear signaltransduction. Involved in the regulation of the insulin receptorsignaling pathway. {ECO:0000269|PubMed:10490823,ECO:0000269|PubMed:15016378, ECO:0000269|PubMed:26073777}. |
![]() * 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 NEK1_APPL1 |
![]() (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 NEK1_APPL1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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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 NEK1_APPL1 |
![]() (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 NEK1_APPL1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | NEK1 | C0002736 | Amyotrophic Lateral Sclerosis | 2 | CTD_human |
Hgene | NEK1 | C0036996 | Short Rib-Polydactyly Syndrome | 2 | CTD_human |
Hgene | NEK1 | C0024507 | Majewski Syndrome | 1 | ORPHANET;UNIPROT |
Tgene | APPL1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Tgene | APPL1 | C4225299 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14 | 1 | UNIPROT |