|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 14220 |
FusionGeneSummary for GABBR2_UBE2H |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: GABBR2_UBE2H | Fusion gene ID: 14220 | Hgene | Tgene | Gene symbol | GABBR2 | UBE2H | Gene ID | 9568 | 7328 |
| Gene name | gamma-aminobutyric acid type B receptor subunit 2 | ubiquitin conjugating enzyme E2 H | |
| Synonyms | EIEE59|GABABR2|GPR51|GPRC3B|HG20|HRIHFB2099|NDPLHS | E2-20K|GID3|UBC8|UBCH|UBCH2 | |
| Cytomap | 9q22.33 | 7q32.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | gamma-aminobutyric acid type B receptor subunit 2G-protein coupled receptor 51GABA-B receptor 2GABA-B receptor, R2 subunitGABA-B-R2GABA-BR2gamma-aminobutyric acid (GABA) B receptor, 2gamma-aminobutyric acid B receptor 2gb2 | ubiquitin-conjugating enzyme E2 H(E3-independent) E2 ubiquitin-conjugating enzyme HE2 ubiquitin-conjugating enzyme HGID complex subunit 3, UBC8 homologubiquitin carrier protein Hubiquitin conjugating enzyme E2Hubiquitin-conjugating enzyme E2-20Kubi | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | O75899 | P62256 | |
| Ensembl transtripts involved in fusion gene | ENST00000259455, ENST00000477471, | ENST00000355621, ENST00000473814, | |
| Fusion gene scores | * DoF score | 4 X 4 X 2=32 | 7 X 8 X 4=224 |
| # samples | 4 | 10 | |
| ** MAII score | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(10/224*10)=-1.16349873228288 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: GABBR2 [Title/Abstract] AND UBE2H [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 | GABBR2 | GO:0007214 | gamma-aminobutyric acid signaling pathway | 9872316 |
| Tgene | UBE2H | GO:0070936 | protein K48-linked ubiquitination | 20061386 |
| Tgene | UBE2H | GO:0070979 | protein K11-linked ubiquitination | 20061386 |
| 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 | BE766562 | GABBR2 | chr9 | 101052890 | - | UBE2H | chr7 | 129569478 | + |
| * 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-intron | ENST00000259455 | ENST00000355621 | GABBR2 | chr9 | 101052890 | - | UBE2H | chr7 | 129569478 | + |
| intron-intron | ENST00000259455 | ENST00000473814 | GABBR2 | chr9 | 101052890 | - | UBE2H | chr7 | 129569478 | + |
| intron-intron | ENST00000477471 | ENST00000355621 | GABBR2 | chr9 | 101052890 | - | UBE2H | chr7 | 129569478 | + |
| intron-intron | ENST00000477471 | ENST00000473814 | GABBR2 | chr9 | 101052890 | - | UBE2H | chr7 | 129569478 | + |
Top |
FusionProtFeatures for GABBR2_UBE2H |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| GABBR2 | UBE2H |
| Component of a heterodimeric G-protein coupled receptorfor GABA, formed by GABBR1 and GABBR2 (PubMed:9872316,PubMed:9872744, PubMed:15617512, PubMed:18165688, PubMed:22660477,PubMed:24305054). Within the heterodimeric GABA receptor, onlyGABBR1 seems to bind agonists, while GABBR2 mediates coupling to Gproteins (PubMed:18165688). Ligand binding causes a conformationchange that triggers signaling via guanine nucleotide-bindingproteins (G proteins) and modulates the activity of down-streameffectors, such as adenylate cyclase (PubMed:10075644,PubMed:10773016, PubMed:24305054). Signaling inhibits adenylatecyclase, stimulates phospholipase A2, activates potassiumchannels, inactivates voltage-dependent calcium-channels andmodulates inositol phospholipid hydrolysis (PubMed:10075644,PubMed:9872744, PubMed:10906333, PubMed:10773016). Plays acritical role in the fine-tuning of inhibitory synaptictransmission (PubMed:9872744, PubMed:22660477). Pre-synaptic GABAreceptor inhibits neurotransmitter release by down-regulatinghigh-voltage activated calcium channels, whereas postsynaptic GABAreceptor decreases neuronal excitability by activating a prominentinwardly rectifying potassium (Kir) conductance that underlies thelate inhibitory postsynaptic potentials (PubMed:9872316,PubMed:10075644, PubMed:9872744, PubMed:22660477). Not onlyimplicated in synaptic inhibition but also in hippocampal long-term potentiation, slow wave sleep, muscle relaxation andantinociception (Probable). {ECO:0000269|PubMed:10075644,ECO:0000269|PubMed:10328880, ECO:0000269|PubMed:15617512,ECO:0000269|PubMed:18165688, ECO:0000269|PubMed:22660477,ECO:0000269|PubMed:24305054, ECO:0000269|PubMed:9872316,ECO:0000269|PubMed:9872744, ECO:0000305}. | Accepts ubiquitin from the E1 complex and catalyzes itscovalent attachment to other proteins. In vitro catalyzes 'Lys-11'- and 'Lys-48'-linked polyubiquitination. Capable, in vitro, toubiquitinate histone H2A. {ECO:0000269|PubMed:20061386,ECO:0000269|PubMed:8132613}. |
| 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 |
Top |
FusionGeneSequence for GABBR2_UBE2H |
| 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). |
Top |
FusionGenePPI for GABBR2_UBE2H |
| 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 |
Top |
RelatedDrugs for GABBR2_UBE2H |
| 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 |
| Hgene | GABBR2 | O75899 | DB00181 | Baclofen | Gamma-aminobutyric acid type B receptor subunit 2 | small molecule | approved |
| Hgene | GABBR2 | O75899 | DB00996 | Gabapentin | Gamma-aminobutyric acid type B receptor subunit 2 | small molecule | approved|investigational |
Top |
RelatedDiseases for GABBR2_UBE2H |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | GABBR2 | C0004352 | Autistic Disorder | 1 | CTD_human |
| Hgene | GABBR2 | C0041696 | Unipolar Depression | 1 | PSYGENET |
| Hgene | GABBR2 | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
| Tgene | UBE2H | C0004352 | Autistic Disorder | 1 | CTD_human |
| Tgene | UBE2H | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|