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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 14220

FusionGeneSummary for GABBR2_UBE2H

check button Fusion gene summary
Fusion gene informationFusion gene name: GABBR2_UBE2H
Fusion gene ID: 14220
HgeneTgene
Gene symbol

GABBR2

UBE2H

Gene ID

9568

7328

Gene namegamma-aminobutyric acid type B receptor subunit 2ubiquitin conjugating enzyme E2 H
SynonymsEIEE59|GABABR2|GPR51|GPRC3B|HG20|HRIHFB2099|NDPLHSE2-20K|GID3|UBC8|UBCH|UBCH2
Cytomap

9q22.33

7q32.2

Type of geneprotein-codingprotein-coding
Descriptiongamma-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 2gb2ubiquitin-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 date2018051920180523
UniProtAcc

O75899

P62256

Ensembl transtripts involved in fusion geneENST00000259455, ENST00000477471, 
ENST00000355621, ENST00000473814, 
Fusion gene scores* DoF score4 X 4 X 2=327 X 8 X 4=224
# samples 410
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneGABBR2

GO:0007214

gamma-aminobutyric acid signaling pathway

9872316

TgeneUBE2H

GO:0070936

protein K48-linked ubiquitination

20061386

TgeneUBE2H

GO:0070979

protein K11-linked ubiquitination

20061386


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1BE766562GABBR2chr9

101052890

-UBE2Hchr7

129569478

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-intronENST00000259455ENST00000355621GABBR2chr9

101052890

-UBE2Hchr7

129569478

+
intron-intronENST00000259455ENST00000473814GABBR2chr9

101052890

-UBE2Hchr7

129569478

+
intron-intronENST00000477471ENST00000355621GABBR2chr9

101052890

-UBE2Hchr7

129569478

+
intron-intronENST00000477471ENST00000473814GABBR2chr9

101052890

-UBE2Hchr7

129569478

+

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FusionProtFeatures for GABBR2_UBE2H


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
GABBR2

O75899

UBE2H

P62256

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}.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for GABBR2_UBE2H


check button 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 GABBR2_UBE2H


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for GABBR2_UBE2H


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneGABBR2O75899DB00181BaclofenGamma-aminobutyric acid type B receptor subunit 2small moleculeapproved
HgeneGABBR2O75899DB00996GabapentinGamma-aminobutyric acid type B receptor subunit 2small moleculeapproved|investigational

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RelatedDiseases for GABBR2_UBE2H


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGABBR2C0004352Autistic Disorder1CTD_human
HgeneGABBR2C0041696Unipolar Depression1PSYGENET
HgeneGABBR2C1269683Major Depressive Disorder1PSYGENET
TgeneUBE2HC0004352Autistic Disorder1CTD_human
TgeneUBE2HC0032460Polycystic Ovary Syndrome1CTD_human