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Fusion gene ID: 14245 |
FusionGeneSummary for GABRE_SYNPO2 |
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Fusion gene information | Fusion gene name: GABRE_SYNPO2 | Fusion gene ID: 14245 | Hgene | Tgene | Gene symbol | GABRE | SYNPO2 | Gene ID | 2564 | 171024 |
Gene name | gamma-aminobutyric acid type A receptor epsilon subunit | synaptopodin 2 | |
Synonyms | - | - | |
Cytomap | Xq28 | 4q26 | |
Type of gene | protein-coding | protein-coding | |
Description | gamma-aminobutyric acid receptor subunit epsilonGABA(A) receptor subunit epsilonGABA(A) receptor, epsilongamma-aminobutyric acid (GABA) A receptor, epsilon | synaptopodin-2genethonin-2myopodin | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | P78334 | Q9UMS6 | |
Ensembl transtripts involved in fusion gene | ENST00000370328, ENST00000370325, ENST00000393914, ENST00000483564, | ENST00000307142, ENST00000448416, ENST00000429713, ENST00000434046, | |
Fusion gene scores | * DoF score | 5 X 7 X 2=70 | 7 X 6 X 3=126 |
# samples | 14 | 8 | |
** MAII score | log2(14/70*10)=1 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(8/126*10)=-0.655351828612554 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: GABRE [Title/Abstract] AND SYNPO2 [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 | GABRE | GO:2001226 | negative regulation of chloride transport | 9039914 |
![]() (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 | BF827216 | GABRE | chrX | 151123454 | - | SYNPO2 | chr4 | 119951199 | + |
* 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-3CDS | ENST00000370328 | ENST00000307142 | GABRE | chrX | 151123454 | - | SYNPO2 | chr4 | 119951199 | + |
intron-intron | ENST00000370328 | ENST00000448416 | GABRE | chrX | 151123454 | - | SYNPO2 | chr4 | 119951199 | + |
intron-intron | ENST00000370328 | ENST00000429713 | GABRE | chrX | 151123454 | - | SYNPO2 | chr4 | 119951199 | + |
intron-intron | ENST00000370328 | ENST00000434046 | GABRE | chrX | 151123454 | - | SYNPO2 | chr4 | 119951199 | + |
intron-3CDS | ENST00000370325 | ENST00000307142 | GABRE | chrX | 151123454 | - | SYNPO2 | chr4 | 119951199 | + |
intron-intron | ENST00000370325 | ENST00000448416 | GABRE | chrX | 151123454 | - | SYNPO2 | chr4 | 119951199 | + |
intron-intron | ENST00000370325 | ENST00000429713 | GABRE | chrX | 151123454 | - | SYNPO2 | chr4 | 119951199 | + |
intron-intron | ENST00000370325 | ENST00000434046 | GABRE | chrX | 151123454 | - | SYNPO2 | chr4 | 119951199 | + |
intron-3CDS | ENST00000393914 | ENST00000307142 | GABRE | chrX | 151123454 | - | SYNPO2 | chr4 | 119951199 | + |
intron-intron | ENST00000393914 | ENST00000448416 | GABRE | chrX | 151123454 | - | SYNPO2 | chr4 | 119951199 | + |
intron-intron | ENST00000393914 | ENST00000429713 | GABRE | chrX | 151123454 | - | SYNPO2 | chr4 | 119951199 | + |
intron-intron | ENST00000393914 | ENST00000434046 | GABRE | chrX | 151123454 | - | SYNPO2 | chr4 | 119951199 | + |
intron-3CDS | ENST00000483564 | ENST00000307142 | GABRE | chrX | 151123454 | - | SYNPO2 | chr4 | 119951199 | + |
intron-intron | ENST00000483564 | ENST00000448416 | GABRE | chrX | 151123454 | - | SYNPO2 | chr4 | 119951199 | + |
intron-intron | ENST00000483564 | ENST00000429713 | GABRE | chrX | 151123454 | - | SYNPO2 | chr4 | 119951199 | + |
intron-intron | ENST00000483564 | ENST00000434046 | GABRE | chrX | 151123454 | - | SYNPO2 | chr4 | 119951199 | + |
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FusionProtFeatures for GABRE_SYNPO2 |
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Hgene | Tgene |
GABRE | SYNPO2 |
GABA, the major inhibitory neurotransmitter in thevertebrate brain, mediates neuronal inhibition by binding to theGABA/benzodiazepine receptor and opening an integral chloridechannel. | Has an actin-binding and actin-bundling activity. Caninduce the formation of F-actin networks in an isoform-specificmanner (PubMed:24005909, PubMed:23225103). At the sarcomeric Zlines is proposed to act as adapter protein that links nascentmyofibers to the sarcolemma via ZYX and may play a role in earlyassembly and stabilization of the Z lines. Involved inautophagosome formation. May play a role in chaperone-assistedselective autophagy (CASA) involved in Z lines maintenance instriated muscle under mechanical tension; may link the client-processing CASA chaperone machinery to a membrane-tethering andfusion complex providing autophagosome membranes (By similarity).Involved in regulation of cell migration (PubMed:22915763,PubMed:25883213). May be a tumor suppressor (PubMed:16885336).{ECO:0000250|UniProtKB:D4A702, ECO:0000250|UniProtKB:Q91YE8,ECO:0000269|PubMed:22915763, ECO:0000269|PubMed:23225103,ECO:0000269|PubMed:24005909, ECO:0000269|PubMed:25883213,ECO:0000305|PubMed:16885336, ECO:0000305|PubMed:20554076}. Isoform 1: Involved in regulation of cell migration. Caninduce formation of thick, irregular actin bundles in the cellbody. {ECO:0000269|PubMed:22915763, ECO:0000269|PubMed:24005909}. Isoform 2: Involved in regulation of cell migration. Caninduce long, well-organized actin bundles frequently orientated inparallel along the long axis of the cell showing characteristicsof contractile ventral stress fibers.{ECO:0000269|PubMed:22915763, ECO:0000269|PubMed:24005909}. Isoform 3: Involved in regulation of cell migration. Caninduce an amorphous actin meshwork throughout the cell bodycontaining a mixture of long and short, randomly organized thickand thin actin bundles. {ECO:0000269|PubMed:22915763,ECO:0000269|PubMed:24005909}. Isoform 4: Can induce long, well-organized actin bundlesfrequently orientated in parallel along the long axis of the cellshowing characteristics of contractile ventral stress fibers.{ECO:0000269|PubMed:24005909}. Isoform 5: Involved in regulation of cell migration inpart dependent on the Rho-ROCK cascade; can promote formation ofnascent focal adhesions, actin bundles at the leading cell edgeand lamellipodia (PubMed:22915763, PubMed:25883213). Can induceformation of thick, irregular actin bundles in the cell body; theinduced actin network is associated with enhanced cell migrationin vitro. {ECO:0000269|PubMed:22915763,ECO:0000269|PubMed:24005909, ECO:0000269|PubMed:25883213}. |
![]() * 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 GABRE_SYNPO2 |
![]() (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 GABRE_SYNPO2 |
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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 GABRE_SYNPO2 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | GABRE | P78334 | DB00546 | Adinazolam | Gamma-aminobutyric acid receptor subunit epsilon | small molecule | approved |
Hgene | GABRE | P78334 | DB00842 | Oxazepam | Gamma-aminobutyric acid receptor subunit epsilon | small molecule | approved |
Hgene | GABRE | P78334 | DB00898 | Ethanol | Gamma-aminobutyric acid receptor subunit epsilon | small molecule | approved |
Hgene | GABRE | P78334 | DB01587 | Ketazolam | Gamma-aminobutyric acid receptor subunit epsilon | small molecule | approved |
Hgene | GABRE | P78334 | DB01594 | Cinolazepam | Gamma-aminobutyric acid receptor subunit epsilon | small molecule | approved |
Hgene | GABRE | P78334 | DB01595 | Nitrazepam | Gamma-aminobutyric acid receptor subunit epsilon | small molecule | approved |
Hgene | GABRE | P78334 | DB00683 | Midazolam | Gamma-aminobutyric acid receptor subunit epsilon | small molecule | approved|illicit |
Hgene | GABRE | P78334 | DB01215 | Estazolam | Gamma-aminobutyric acid receptor subunit epsilon | small molecule | approved|illicit |
Hgene | GABRE | P78334 | DB01559 | Clotiazepam | Gamma-aminobutyric acid receptor subunit epsilon | small molecule | approved|illicit |
Hgene | GABRE | P78334 | DB01567 | Fludiazepam | Gamma-aminobutyric acid receptor subunit epsilon | small molecule | approved|illicit |
Hgene | GABRE | P78334 | DB01588 | Prazepam | Gamma-aminobutyric acid receptor subunit epsilon | small molecule | approved|illicit |
Hgene | GABRE | P78334 | DB01589 | Quazepam | Gamma-aminobutyric acid receptor subunit epsilon | small molecule | approved|illicit |
Hgene | GABRE | P78334 | DB00690 | Flurazepam | Gamma-aminobutyric acid receptor subunit epsilon | small molecule | approved|illicit|investigational |
Hgene | GABRE | P78334 | DB01558 | Bromazepam | Gamma-aminobutyric acid receptor subunit epsilon | small molecule | approved|illicit|investigational |
Hgene | GABRE | P78334 | DB00829 | Diazepam | Gamma-aminobutyric acid receptor subunit epsilon | small molecule | approved|illicit|investigational|vet_approved |
Hgene | GABRE | P78334 | DB00801 | Halazepam | Gamma-aminobutyric acid receptor subunit epsilon | small molecule | approved|illicit|withdrawn |
Hgene | GABRE | P78334 | DB00231 | Temazepam | Gamma-aminobutyric acid receptor subunit epsilon | small molecule | approved|investigational |
Hgene | GABRE | P78334 | DB00897 | Triazolam | Gamma-aminobutyric acid receptor subunit epsilon | small molecule | approved|investigational |
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RelatedDiseases for GABRE_SYNPO2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | SYNPO2 | C0677886 | Epithelial ovarian cancer | 1 | CTD_human |