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Fusion gene ID: 23591 |
FusionGeneSummary for NCK2_ATP6V0D1 |
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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) |
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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 |
![]() (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 |
![]() * 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 |
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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}. |
![]() * 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 |
![]() (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 |
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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 NCK2_ATP6V0D1 |
![]() (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 |
![]() (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 |