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Fusion gene ID: 23591 |
FusionGeneSummary for NCK2_ATP6V0D1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: NCK2_ATP6V0D1 | Fusion gene ID: 23591 | Hgene | Tgene | Gene symbol | NCK2 | ATP6V0D1 | Gene ID | 8440 | 9114 |
| Gene name | NCK adaptor protein 2 | ATPase H+ transporting V0 subunit d1 | |
| Synonyms | GRB4|NCKbeta | ATP6D|ATP6DV|P39|VATX|VMA6|VPATPD | |
| Cytomap | 2q12.2 | 16q22.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | cytoplasmic protein NCK2SH2/SH3 adaptor protein NCK-betagrowth factor receptor-bound protein 4noncatalytic region of tyrosine kinase, beta | V-type proton ATPase subunit d 132 kDa accessory proteinATPase, H+ transporting, lysosomal (vacuolar proton pump), member DATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1H(+)-transporting two-sector ATPase, subunit DV-ATPase 40 KDa accessory | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | O43639 | P61421 | |
| Ensembl transtripts involved in fusion gene | ENST00000233154, ENST00000451463, ENST00000522586, ENST00000393349, | ENST00000290949, ENST00000540149, ENST00000602876, ENST00000567694, | |
| Fusion gene scores | * DoF score | 6 X 4 X 5=120 | 4 X 4 X 3=48 |
| # samples | 6 | 4 | |
| ** MAII score | log2(6/120*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: NCK2 [Title/Abstract] AND ATP6V0D1 [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 | NCK2 | GO:0033137 | negative regulation of peptidyl-serine phosphorylation | 16835242 |
| Hgene | NCK2 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 10026169 |
| Hgene | NCK2 | GO:1903912 | negative regulation of endoplasmic reticulum stress-induced eIF2 alpha phosphorylation | 16835242 |
| 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 |
| ChiTaRS3.1 | BI000173 | NCK2 | chr2 | 106481280 | + | ATP6V0D1 | chr16 | 67472368 | - |
| * 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 |
| intron-3UTR | ENST00000233154 | ENST00000290949 | NCK2 | chr2 | 106481280 | + | ATP6V0D1 | chr16 | 67472368 | - |
| intron-intron | ENST00000233154 | ENST00000540149 | NCK2 | chr2 | 106481280 | + | ATP6V0D1 | chr16 | 67472368 | - |
| intron-3UTR | ENST00000233154 | ENST00000602876 | NCK2 | chr2 | 106481280 | + | ATP6V0D1 | chr16 | 67472368 | - |
| intron-intron | ENST00000233154 | ENST00000567694 | NCK2 | chr2 | 106481280 | + | ATP6V0D1 | chr16 | 67472368 | - |
| intron-3UTR | ENST00000451463 | ENST00000290949 | NCK2 | chr2 | 106481280 | + | ATP6V0D1 | chr16 | 67472368 | - |
| intron-intron | ENST00000451463 | ENST00000540149 | NCK2 | chr2 | 106481280 | + | ATP6V0D1 | chr16 | 67472368 | - |
| intron-3UTR | ENST00000451463 | ENST00000602876 | NCK2 | chr2 | 106481280 | + | ATP6V0D1 | chr16 | 67472368 | - |
| intron-intron | ENST00000451463 | ENST00000567694 | NCK2 | chr2 | 106481280 | + | ATP6V0D1 | chr16 | 67472368 | - |
| intron-3UTR | ENST00000522586 | ENST00000290949 | NCK2 | chr2 | 106481280 | + | ATP6V0D1 | chr16 | 67472368 | - |
| intron-intron | ENST00000522586 | ENST00000540149 | NCK2 | chr2 | 106481280 | + | ATP6V0D1 | chr16 | 67472368 | - |
| intron-3UTR | ENST00000522586 | ENST00000602876 | NCK2 | chr2 | 106481280 | + | ATP6V0D1 | chr16 | 67472368 | - |
| intron-intron | ENST00000522586 | ENST00000567694 | NCK2 | chr2 | 106481280 | + | ATP6V0D1 | chr16 | 67472368 | - |
| intron-3UTR | ENST00000393349 | ENST00000290949 | NCK2 | chr2 | 106481280 | + | ATP6V0D1 | chr16 | 67472368 | - |
| intron-intron | ENST00000393349 | ENST00000540149 | NCK2 | chr2 | 106481280 | + | ATP6V0D1 | chr16 | 67472368 | - |
| intron-3UTR | ENST00000393349 | ENST00000602876 | NCK2 | chr2 | 106481280 | + | ATP6V0D1 | chr16 | 67472368 | - |
| intron-intron | ENST00000393349 | ENST00000567694 | NCK2 | chr2 | 106481280 | + | ATP6V0D1 | chr16 | 67472368 | - |
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FusionProtFeatures for NCK2_ATP6V0D1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| NCK2 | ATP6V0D1 |
| Adapter protein which associates with tyrosine-phosphorylated growth factor receptors or their cellularsubstrates. Maintains low levels of EIF2S1 phosphorylation bypromoting its dephosphorylation by PP1. Plays a role in ELK1-dependent transcriptional activation in response to activated Rassignaling. {ECO:0000269|PubMed:10026169,ECO:0000269|PubMed:16835242}. | Subunit of the integral membrane V0 complex of vacuolarATPase. Vacuolar ATPase is responsible for acidifying a variety ofintracellular compartments in eukaryotic cells, thus providingmost of the energy required for transport processes in thevacuolar system. May play a role in coupling of proton transportand ATP hydrolysis (By similarity). May play a role in ciliumbiogenesis through regulation of the transport and thelocalization of proteins to the cilium (By similarity). In aerobicconditions, involved in intracellular iron homeostasis, thustriggering the activity of Fe(2+) prolyl hydroxylase (PHD)enzymes, and leading to HIF1A hydroxylation and subsequentproteasomal degradation (PubMed:28296633). {ECO:0000250,ECO:0000269|PubMed:28296633}. |
| 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 NCK2_ATP6V0D1 |
| 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 NCK2_ATP6V0D1 |
| 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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RelatedDrugs for NCK2_ATP6V0D1 |
| 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 NCK2_ATP6V0D1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | NCK2 | C0001925 | Albuminuria | 1 | CTD_human |
| Hgene | NCK2 | C0027726 | Nephrotic Syndrome | 1 | CTD_human |
| Hgene | NCK2 | C0033687 | Proteinuria | 1 | CTD_human |
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