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Fusion gene ID: 3478 |
FusionGeneSummary for ATP6V1E2_GRIK1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ATP6V1E2_GRIK1 | Fusion gene ID: 3478 | Hgene | Tgene | Gene symbol | ATP6V1E2 | GRIK1 | Gene ID | 90423 | 2897 |
| Gene name | ATPase H+ transporting V1 subunit E2 | glutamate ionotropic receptor kainate type subunit 1 | |
| Synonyms | ATP6E1|ATP6EL2|ATP6V1EL2|VMA4 | EAA3|EEA3|GLR5|GLUR5|GluK1|gluR-5 | |
| Cytomap | 2p21|2p16-p12 | 21q21.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | V-type proton ATPase subunit E 2ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2V-ATPase subunit E 2testis secretory sperm-binding protein Li 235Pvacuolar proton pump subunit E 2vacuolar-type proton-translocating ATPase subunit E1 | glutamate receptor ionotropic, kainate 1excitatory amino acid receptor 3glutamate receptor 5 | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | Q96A05 | P39086 | |
| Ensembl transtripts involved in fusion gene | ENST00000306448, ENST00000522587, ENST00000505245, | ENST00000327783, ENST00000389125, ENST00000399913, ENST00000399914, ENST00000535441, ENST00000389124, ENST00000399907, ENST00000399909, ENST00000309434, ENST00000472429, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 6 X 4 X 5=120 |
| # samples | 1 | 6 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(6/120*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ATP6V1E2 [Title/Abstract] AND GRIK1 [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 |
| 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 |
| TCGA | RV | HNSC | TCGA-CN-6992-01A | ATP6V1E2 | chr2 | 46762952 | - | GRIK1 | chr21 | 31015289 | - |
| * 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-3CDS | ENST00000306448 | ENST00000327783 | ATP6V1E2 | chr2 | 46762952 | - | GRIK1 | chr21 | 31015289 | - |
| intron-3CDS | ENST00000306448 | ENST00000389125 | ATP6V1E2 | chr2 | 46762952 | - | GRIK1 | chr21 | 31015289 | - |
| intron-3CDS | ENST00000306448 | ENST00000399913 | ATP6V1E2 | chr2 | 46762952 | - | GRIK1 | chr21 | 31015289 | - |
| intron-3CDS | ENST00000306448 | ENST00000399914 | ATP6V1E2 | chr2 | 46762952 | - | GRIK1 | chr21 | 31015289 | - |
| intron-3CDS | ENST00000306448 | ENST00000535441 | ATP6V1E2 | chr2 | 46762952 | - | GRIK1 | chr21 | 31015289 | - |
| intron-3CDS | ENST00000306448 | ENST00000389124 | ATP6V1E2 | chr2 | 46762952 | - | GRIK1 | chr21 | 31015289 | - |
| intron-3CDS | ENST00000306448 | ENST00000399907 | ATP6V1E2 | chr2 | 46762952 | - | GRIK1 | chr21 | 31015289 | - |
| intron-3CDS | ENST00000306448 | ENST00000399909 | ATP6V1E2 | chr2 | 46762952 | - | GRIK1 | chr21 | 31015289 | - |
| intron-3CDS | ENST00000306448 | ENST00000309434 | ATP6V1E2 | chr2 | 46762952 | - | GRIK1 | chr21 | 31015289 | - |
| intron-5UTR | ENST00000306448 | ENST00000472429 | ATP6V1E2 | chr2 | 46762952 | - | GRIK1 | chr21 | 31015289 | - |
| 5UTR-3CDS | ENST00000522587 | ENST00000327783 | ATP6V1E2 | chr2 | 46762952 | - | GRIK1 | chr21 | 31015289 | - |
| 5UTR-3CDS | ENST00000522587 | ENST00000389125 | ATP6V1E2 | chr2 | 46762952 | - | GRIK1 | chr21 | 31015289 | - |
| 5UTR-3CDS | ENST00000522587 | ENST00000399913 | ATP6V1E2 | chr2 | 46762952 | - | GRIK1 | chr21 | 31015289 | - |
| 5UTR-3CDS | ENST00000522587 | ENST00000399914 | ATP6V1E2 | chr2 | 46762952 | - | GRIK1 | chr21 | 31015289 | - |
| 5UTR-3CDS | ENST00000522587 | ENST00000535441 | ATP6V1E2 | chr2 | 46762952 | - | GRIK1 | chr21 | 31015289 | - |
| 5UTR-3CDS | ENST00000522587 | ENST00000389124 | ATP6V1E2 | chr2 | 46762952 | - | GRIK1 | chr21 | 31015289 | - |
| 5UTR-3CDS | ENST00000522587 | ENST00000399907 | ATP6V1E2 | chr2 | 46762952 | - | GRIK1 | chr21 | 31015289 | - |
| 5UTR-3CDS | ENST00000522587 | ENST00000399909 | ATP6V1E2 | chr2 | 46762952 | - | GRIK1 | chr21 | 31015289 | - |
| 5UTR-3CDS | ENST00000522587 | ENST00000309434 | ATP6V1E2 | chr2 | 46762952 | - | GRIK1 | chr21 | 31015289 | - |
| 5UTR-5UTR | ENST00000522587 | ENST00000472429 | ATP6V1E2 | chr2 | 46762952 | - | GRIK1 | chr21 | 31015289 | - |
| intron-3CDS | ENST00000505245 | ENST00000327783 | ATP6V1E2 | chr2 | 46762952 | - | GRIK1 | chr21 | 31015289 | - |
| intron-3CDS | ENST00000505245 | ENST00000389125 | ATP6V1E2 | chr2 | 46762952 | - | GRIK1 | chr21 | 31015289 | - |
| intron-3CDS | ENST00000505245 | ENST00000399913 | ATP6V1E2 | chr2 | 46762952 | - | GRIK1 | chr21 | 31015289 | - |
| intron-3CDS | ENST00000505245 | ENST00000399914 | ATP6V1E2 | chr2 | 46762952 | - | GRIK1 | chr21 | 31015289 | - |
| intron-3CDS | ENST00000505245 | ENST00000535441 | ATP6V1E2 | chr2 | 46762952 | - | GRIK1 | chr21 | 31015289 | - |
| intron-3CDS | ENST00000505245 | ENST00000389124 | ATP6V1E2 | chr2 | 46762952 | - | GRIK1 | chr21 | 31015289 | - |
| intron-3CDS | ENST00000505245 | ENST00000399907 | ATP6V1E2 | chr2 | 46762952 | - | GRIK1 | chr21 | 31015289 | - |
| intron-3CDS | ENST00000505245 | ENST00000399909 | ATP6V1E2 | chr2 | 46762952 | - | GRIK1 | chr21 | 31015289 | - |
| intron-3CDS | ENST00000505245 | ENST00000309434 | ATP6V1E2 | chr2 | 46762952 | - | GRIK1 | chr21 | 31015289 | - |
| intron-5UTR | ENST00000505245 | ENST00000472429 | ATP6V1E2 | chr2 | 46762952 | - | GRIK1 | chr21 | 31015289 | - |
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FusionProtFeatures for ATP6V1E2_GRIK1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ATP6V1E2 | GRIK1 |
| Subunit of the peripheral V1 complex of vacuolar ATPaseessential for assembly or catalytic function. V-ATPase isresponsible for acidifying a variety of intracellular compartmentsin eukaryotic cells. This isoform is essential for energy couplinginvolved in acidification of acrosome (By similarity).{ECO:0000250}. | Ionotropic glutamate receptor. L-glutamate acts as anexcitatory neurotransmitter at many synapses in the centralnervous system. Binding of the excitatory neurotransmitter L-glutamate induces a conformation change, leading to the opening ofthe cation channel, and thereby converts the chemical signal to anelectrical impulse. The receptor then desensitizes rapidly andenters a transient inactive state, characterized by the presenceof bound agonist. May be involved in the transmission of lightinformation from the retina to the hypothalamus. |
| 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 ATP6V1E2_GRIK1 |
| 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 ATP6V1E2_GRIK1 |
| 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 |
| ATP6V1E2 | ATP6V1G1, C9orf16, ATP6V1C2, ATP6V1B1 | GRIK1 | PICK1, SDCBP, DLG4, GRIP1 |
| - 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 ATP6V1E2_GRIK1 |
| 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 |
| Tgene | GRIK1 | P39086 | DB00273 | Topiramate | Glutamate receptor ionotropic, kainate 1 | small molecule | approved |
| Tgene | GRIK1 | P39086 | DB00142 | Glutamic Acid | Glutamate receptor ionotropic, kainate 1 | small molecule | approved|nutraceutical |
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RelatedDiseases for ATP6V1E2_GRIK1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | GRIK1 | C0036341 | Schizophrenia | 2 | PSYGENET |
| Tgene | GRIK1 | C0687132 | heavy drinking | 2 | PSYGENET |
| Tgene | GRIK1 | C0001969 | Alcoholic Intoxication | 1 | PSYGENET |
| Tgene | GRIK1 | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
| Tgene | GRIK1 | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| Tgene | GRIK1 | C0036572 | Seizures | 1 | CTD_human |
| Tgene | GRIK1 | C0573196 | Overdose of cocaine | 1 | PSYGENET |
| Tgene | GRIK1 | C3496069 | cocaine use | 1 | PSYGENET |
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