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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: 14238

FusionGeneSummary for GABRB3_DDX1

check button Fusion gene summary
Fusion gene informationFusion gene name: GABRB3_DDX1
Fusion gene ID: 14238
HgeneTgene
Gene symbol

GABRB3

DDX1

Gene ID

2562

1653

Gene namegamma-aminobutyric acid type A receptor beta3 subunitDEAD-box helicase 1
SynonymsECA5|EIEE43DBP-RB|UKVH5d
Cytomap

15q12

2p24.3

Type of geneprotein-codingprotein-coding
Descriptiongamma-aminobutyric acid receptor subunit beta-3GABA-alpha receptor beta-2 subunitGABAA receptor beta-3 subunitgamma-aminobutyric acid (GABA) A receptor, beta 3gamma-aminobutyric acid A receptor beta 3ATP-dependent RNA helicase DDX1DEAD (Asp-Glu-Ala-Asp) box helicase 1DEAD (Asp-Glu-Ala-Asp) box polypeptide 1DEAD box polypeptide 1DEAD box protein 1DEAD box protein retinoblastomaDEAD box-1DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1DEAD/H-box h
Modification date2018052320180522
UniProtAcc

P28472

Q92499

Ensembl transtripts involved in fusion geneENST00000311550, ENST00000541819, 
ENST00000299267, ENST00000400188, 
ENST00000545868, ENST00000557641, 
ENST00000381341, ENST00000233084, 
Fusion gene scores* DoF score3 X 3 X 2=184 X 4 X 3=48
# samples 34
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GABRB3 [Title/Abstract] AND DDX1 [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
HgeneGABRB3

GO:0071420

cellular response to histamine

18281286

HgeneGABRB3

GO:1902476

chloride transmembrane transport

9039914

TgeneDDX1

GO:0006302

double-strand break repair

18710941

TgeneDDX1

GO:0032508

DNA duplex unwinding

18710941

TgeneDDX1

GO:0090305

nucleic acid phosphodiester bond hydrolysis

18710941


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
ChiTaRS3.1BG329765GABRB3chr15

26790498

-DDX1chr2

15768763

+
* 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-3CDSENST00000311550ENST00000381341GABRB3chr15

26790498

-DDX1chr2

15768763

+
intron-3CDSENST00000311550ENST00000233084GABRB3chr15

26790498

-DDX1chr2

15768763

+
intron-3CDSENST00000541819ENST00000381341GABRB3chr15

26790498

-DDX1chr2

15768763

+
intron-3CDSENST00000541819ENST00000233084GABRB3chr15

26790498

-DDX1chr2

15768763

+
intron-3CDSENST00000299267ENST00000381341GABRB3chr15

26790498

-DDX1chr2

15768763

+
intron-3CDSENST00000299267ENST00000233084GABRB3chr15

26790498

-DDX1chr2

15768763

+
intron-3CDSENST00000400188ENST00000381341GABRB3chr15

26790498

-DDX1chr2

15768763

+
intron-3CDSENST00000400188ENST00000233084GABRB3chr15

26790498

-DDX1chr2

15768763

+
intron-3CDSENST00000545868ENST00000381341GABRB3chr15

26790498

-DDX1chr2

15768763

+
intron-3CDSENST00000545868ENST00000233084GABRB3chr15

26790498

-DDX1chr2

15768763

+
intron-3CDSENST00000557641ENST00000381341GABRB3chr15

26790498

-DDX1chr2

15768763

+
intron-3CDSENST00000557641ENST00000233084GABRB3chr15

26790498

-DDX1chr2

15768763

+

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FusionProtFeatures for GABRB3_DDX1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
GABRB3

P28472

DDX1

Q92499

Component of the heteropentameric receptor for GABA, themajor inhibitory neurotransmitter in the vertebrate brain.Functions also as histamine receptor and mediates cellularresponses to histamine. Functions as receptor for diazepines andvarious anesthetics, such as pentobarbital; these are bound at aseparate allosteric effector binding site. Functions as ligand-gated chloride channel. {ECO:0000269|PubMed:18281286,ECO:0000269|PubMed:18514161, ECO:0000269|PubMed:22243422,ECO:0000269|PubMed:22303015, ECO:0000269|PubMed:24909990,ECO:0000269|PubMed:26950270}. Acts as an ATP-dependent RNA helicase, able to unwindboth RNA-RNA and RNA-DNA duplexes. Possesses 5' single-strandedRNA overhang nuclease activity. Possesses ATPase activity onvarious RNA, but not DNA polynucleotides. May play a role in RNAclearance at DNA double-strand breaks (DSBs), thereby facilitatingthe template-guided repair of transcriptionally active regions ofthe genome. Together with RELA, acts as a coactivator to enhanceNF-kappa-B-mediated transcriptional activation. Acts as a positivetranscriptional regulator of cyclin CCND2 expression. Binds to thecyclin CCND2 promoter region. Associates with chromatin at the NF-kappa-B promoter region via association with RELA. Binds topoly(A) RNA. May be involved in 3'-end cleavage andpolyadenylation of pre-mRNAs. Component of the tRNA-splicingligase complex required to facilitate the enzymatic turnover ofcatalytic subunit RTCB: together with archease (ZBTB8OS), acts byfacilitating the guanylylation of RTCB, a key intermediate step intRNA ligation (PubMed:24870230). {ECO:0000269|PubMed:12183465,ECO:0000269|PubMed:15567440, ECO:0000269|PubMed:18335541,ECO:0000269|PubMed:18710941, ECO:0000269|PubMed:20573827,ECO:0000269|PubMed:24870230}. (Microbial infection) Required for HIV-1 Rev function aswell as for HIV-1 and coronavirus IBV replication. Binds to theRRE sequence of HIV-1 mRNAs. {ECO:0000269|PubMed:15567440}. (Microbial infection) Required for Coronavirus IBVreplication. {ECO:0000269|PubMed:20573827}.

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 GABRB3_DDX1


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 GABRB3_DDX1


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 GABRB3_DDX1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneGABRB3P28472DB00425ZolpidemGamma-aminobutyric acid receptor subunit beta-3small moleculeapproved
HgeneGABRB3P28472DB00546AdinazolamGamma-aminobutyric acid receptor subunit beta-3small moleculeapproved
HgeneGABRB3P28472DB00842OxazepamGamma-aminobutyric acid receptor subunit beta-3small moleculeapproved
HgeneGABRB3P28472DB00898EthanolGamma-aminobutyric acid receptor subunit beta-3small moleculeapproved
HgeneGABRB3P28472DB01594CinolazepamGamma-aminobutyric acid receptor subunit beta-3small moleculeapproved
HgeneGABRB3P28472DB01595NitrazepamGamma-aminobutyric acid receptor subunit beta-3small moleculeapproved
HgeneGABRB3P28472DB00683MidazolamGamma-aminobutyric acid receptor subunit beta-3small moleculeapproved|illicit
HgeneGABRB3P28472DB01215EstazolamGamma-aminobutyric acid receptor subunit beta-3small moleculeapproved|illicit
HgeneGABRB3P28472DB01544FlunitrazepamGamma-aminobutyric acid receptor subunit beta-3small moleculeapproved|illicit
HgeneGABRB3P28472DB01559ClotiazepamGamma-aminobutyric acid receptor subunit beta-3small moleculeapproved|illicit
HgeneGABRB3P28472DB01567FludiazepamGamma-aminobutyric acid receptor subunit beta-3small moleculeapproved|illicit
HgeneGABRB3P28472DB01588PrazepamGamma-aminobutyric acid receptor subunit beta-3small moleculeapproved|illicit
HgeneGABRB3P28472DB01589QuazepamGamma-aminobutyric acid receptor subunit beta-3small moleculeapproved|illicit
HgeneGABRB3P28472DB00690FlurazepamGamma-aminobutyric acid receptor subunit beta-3small moleculeapproved|illicit|investigational
HgeneGABRB3P28472DB01558BromazepamGamma-aminobutyric acid receptor subunit beta-3small moleculeapproved|illicit|investigational
HgeneGABRB3P28472DB00829DiazepamGamma-aminobutyric acid receptor subunit beta-3small moleculeapproved|illicit|investigational|vet_approved
HgeneGABRB3P28472DB00801HalazepamGamma-aminobutyric acid receptor subunit beta-3small moleculeapproved|illicit|withdrawn
HgeneGABRB3P28472DB00231TemazepamGamma-aminobutyric acid receptor subunit beta-3small moleculeapproved|investigational
HgeneGABRB3P28472DB00897TriazolamGamma-aminobutyric acid receptor subunit beta-3small moleculeapproved|investigational
HgeneGABRB3P28472DB00602IvermectinGamma-aminobutyric acid receptor subunit beta-3small moleculeapproved|investigational|vet_approved
HgeneGABRB3P28472DB00818PropofolGamma-aminobutyric acid receptor subunit beta-3small moleculeapproved|investigational|vet_approved
HgeneGABRB3P28472DB00592PiperazineGamma-aminobutyric acid receptor subunit beta-3small moleculeapproved|vet_approved
HgeneGABRB3P28472DB00431LindaneGamma-aminobutyric acid receptor subunit beta-3small moleculeapproved|withdrawn

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RelatedDiseases for GABRB3_DDX1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGABRB3C0011570Mental Depression5PSYGENET
HgeneGABRB3C0011581Depressive disorder5PSYGENET
HgeneGABRB3C0001973Alcoholic Intoxication, Chronic4PSYGENET
HgeneGABRB3C0004352Autistic Disorder2CTD_human
HgeneGABRB3C0005586Bipolar Disorder2PSYGENET
HgeneGABRB3C0036341Schizophrenia2PSYGENET
HgeneGABRB3C0014544Epilepsy1CTD_human
HgeneGABRB3C0014553Absence Epilepsy1CTD_human
HgeneGABRB3C0021603Sleep Initiation and Maintenance Disorders1CTD_human
HgeneGABRB3C0162635Angelman Syndrome1CTD_human
HgeneGABRB3C0376634Craniofacial Abnormalities1CTD_human
HgeneGABRB3C1510586Autism Spectrum Disorders1CTD_human;HPO
HgeneGABRB3C2677087EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 51UNIPROT
HgeneGABRB3C3711376Isodicentric Chromosome 15 Syndrome1CTD_human
TgeneDDX1C0014173Endometrial Hyperplasia1CTD_human
TgeneDDX1C0236969Substance-Related Disorders1CTD_human