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Fusion gene ID: 41647 |
FusionGeneSummary for VPS8_EIF2AK4 |
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Fusion gene information | Fusion gene name: VPS8_EIF2AK4 | Fusion gene ID: 41647 | Hgene | Tgene | Gene symbol | VPS8 | EIF2AK4 | Gene ID | 23355 | 440275 |
Gene name | VPS8, CORVET complex subunit | eukaryotic translation initiation factor 2 alpha kinase 4 | |
Synonyms | KIAA0804 | GCN2|PVOD2 | |
Cytomap | 3q27.2 | 15q15.1 | |
Type of gene | protein-coding | protein-coding | |
Description | vacuolar protein sorting-associated protein 8 homologvacuolar protein sorting 8 homolog | eIF-2-alpha kinase GCN2GCN2 eIF2alpha kinaseGCN2-like proteingeneral control nonderepressible 2 | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | Q8N3P4 | Q9P2K8 | |
Ensembl transtripts involved in fusion gene | ENST00000437079, ENST00000287546, ENST00000436792, ENST00000446204, ENST00000424463, ENST00000463687, | ENST00000559624, ENST00000382727, ENST00000263791, ENST00000560648, ENST00000559311, | |
Fusion gene scores | * DoF score | 9 X 5 X 4=180 | 4 X 6 X 4=96 |
# samples | 8 | 7 | |
** MAII score | log2(8/180*10)=-1.16992500144231 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/96*10)=-0.45567948377619 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: VPS8 [Title/Abstract] AND EIF2AK4 [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 |
![]() (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 |
TCGA | RV | STAD | TCGA-CG-4449-01A | VPS8 | chr3 | 184588593 | + | EIF2AK4 | chr15 | 40318178 | + |
* 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 |
5CDS-intron | ENST00000437079 | ENST00000559624 | VPS8 | chr3 | 184588593 | + | EIF2AK4 | chr15 | 40318178 | + |
5CDS-intron | ENST00000437079 | ENST00000382727 | VPS8 | chr3 | 184588593 | + | EIF2AK4 | chr15 | 40318178 | + |
5CDS-intron | ENST00000437079 | ENST00000263791 | VPS8 | chr3 | 184588593 | + | EIF2AK4 | chr15 | 40318178 | + |
5CDS-intron | ENST00000437079 | ENST00000560648 | VPS8 | chr3 | 184588593 | + | EIF2AK4 | chr15 | 40318178 | + |
5CDS-intron | ENST00000437079 | ENST00000559311 | VPS8 | chr3 | 184588593 | + | EIF2AK4 | chr15 | 40318178 | + |
5CDS-intron | ENST00000287546 | ENST00000559624 | VPS8 | chr3 | 184588593 | + | EIF2AK4 | chr15 | 40318178 | + |
5CDS-intron | ENST00000287546 | ENST00000382727 | VPS8 | chr3 | 184588593 | + | EIF2AK4 | chr15 | 40318178 | + |
5CDS-intron | ENST00000287546 | ENST00000263791 | VPS8 | chr3 | 184588593 | + | EIF2AK4 | chr15 | 40318178 | + |
5CDS-intron | ENST00000287546 | ENST00000560648 | VPS8 | chr3 | 184588593 | + | EIF2AK4 | chr15 | 40318178 | + |
5CDS-intron | ENST00000287546 | ENST00000559311 | VPS8 | chr3 | 184588593 | + | EIF2AK4 | chr15 | 40318178 | + |
5CDS-intron | ENST00000436792 | ENST00000559624 | VPS8 | chr3 | 184588593 | + | EIF2AK4 | chr15 | 40318178 | + |
5CDS-intron | ENST00000436792 | ENST00000382727 | VPS8 | chr3 | 184588593 | + | EIF2AK4 | chr15 | 40318178 | + |
5CDS-intron | ENST00000436792 | ENST00000263791 | VPS8 | chr3 | 184588593 | + | EIF2AK4 | chr15 | 40318178 | + |
5CDS-intron | ENST00000436792 | ENST00000560648 | VPS8 | chr3 | 184588593 | + | EIF2AK4 | chr15 | 40318178 | + |
5CDS-intron | ENST00000436792 | ENST00000559311 | VPS8 | chr3 | 184588593 | + | EIF2AK4 | chr15 | 40318178 | + |
5CDS-intron | ENST00000446204 | ENST00000559624 | VPS8 | chr3 | 184588593 | + | EIF2AK4 | chr15 | 40318178 | + |
5CDS-intron | ENST00000446204 | ENST00000382727 | VPS8 | chr3 | 184588593 | + | EIF2AK4 | chr15 | 40318178 | + |
5CDS-intron | ENST00000446204 | ENST00000263791 | VPS8 | chr3 | 184588593 | + | EIF2AK4 | chr15 | 40318178 | + |
5CDS-intron | ENST00000446204 | ENST00000560648 | VPS8 | chr3 | 184588593 | + | EIF2AK4 | chr15 | 40318178 | + |
5CDS-intron | ENST00000446204 | ENST00000559311 | VPS8 | chr3 | 184588593 | + | EIF2AK4 | chr15 | 40318178 | + |
intron-intron | ENST00000424463 | ENST00000559624 | VPS8 | chr3 | 184588593 | + | EIF2AK4 | chr15 | 40318178 | + |
intron-intron | ENST00000424463 | ENST00000382727 | VPS8 | chr3 | 184588593 | + | EIF2AK4 | chr15 | 40318178 | + |
intron-intron | ENST00000424463 | ENST00000263791 | VPS8 | chr3 | 184588593 | + | EIF2AK4 | chr15 | 40318178 | + |
intron-intron | ENST00000424463 | ENST00000560648 | VPS8 | chr3 | 184588593 | + | EIF2AK4 | chr15 | 40318178 | + |
intron-intron | ENST00000424463 | ENST00000559311 | VPS8 | chr3 | 184588593 | + | EIF2AK4 | chr15 | 40318178 | + |
intron-intron | ENST00000463687 | ENST00000559624 | VPS8 | chr3 | 184588593 | + | EIF2AK4 | chr15 | 40318178 | + |
intron-intron | ENST00000463687 | ENST00000382727 | VPS8 | chr3 | 184588593 | + | EIF2AK4 | chr15 | 40318178 | + |
intron-intron | ENST00000463687 | ENST00000263791 | VPS8 | chr3 | 184588593 | + | EIF2AK4 | chr15 | 40318178 | + |
intron-intron | ENST00000463687 | ENST00000560648 | VPS8 | chr3 | 184588593 | + | EIF2AK4 | chr15 | 40318178 | + |
intron-intron | ENST00000463687 | ENST00000559311 | VPS8 | chr3 | 184588593 | + | EIF2AK4 | chr15 | 40318178 | + |
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FusionProtFeatures for VPS8_EIF2AK4 |
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Hgene | Tgene |
VPS8 | EIF2AK4 |
Plays a role in vesicle-mediated protein trafficking ofthe endocytic membrane transport pathway. Believed to act as acomponent of the putative CORVET endosomal tethering complexeswhich is proposed to be involved in the Rab5-to-Rab7 endosomeconversion probably implicating MON1A/B, and via binding SNAREsand SNARE complexes to mediate tethering and docking events duringSNARE-mediated membrane fusion. The CORVET complex is proposed tofunction as a Rab5 effector to mediate early endosome fusionprobably in specific endosome subpopulations (PubMed:25266290).Functions predominantly in APPL1-containing endosomes(PubMed:25266290). {ECO:0000269|PubMed:25266290,ECO:0000305|PubMed:25266290}. |
![]() * 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 VPS8_EIF2AK4 |
![]() (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 VPS8_EIF2AK4 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
VPS8 | SMAD9, PNKD, PTGER3, ALDH3A2, NTRK1, VPS11, VPS18, VPS16, TGFBRAP1, VIPR2, SIGLECL1, UXS1, FZD10, KIF2B, EDNRB | EIF2AK4 | USP46, GGNBP1, ARRB2, TRAP1, FAM153B, PPP1CC, PPP1CA, CROT, TARS, MATR3, LRPPRC, DEF8, TKT, PALM2, PSMC3, MDM4, C6orf141, CRYL1 |
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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 VPS8_EIF2AK4 |
![]() (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 VPS8_EIF2AK4 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | EIF2AK4 | C0002514 | Amino Acid Metabolism, Inborn Errors | 1 | CTD_human |
Tgene | EIF2AK4 | C0018500 | Hair Diseases | 1 | CTD_human |
Tgene | EIF2AK4 | C0020542 | Pulmonary Hypertension | 1 | CTD_human |
Tgene | EIF2AK4 | C0021053 | Immune System Diseases | 1 | CTD_human |
Tgene | EIF2AK4 | C0026848 | Myopathy | 1 | CTD_human |
Tgene | EIF2AK4 | C0034091 | Pulmonary Veno-Occlusive Disease (disorder) | 1 | CTD_human;ORPHANET |
Tgene | EIF2AK4 | C0340848 | PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE | 1 | UNIPROT |