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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: 14246

FusionGeneSummary for GABRG1_DHX8

check button Fusion gene summary
Fusion gene informationFusion gene name: GABRG1_DHX8
Fusion gene ID: 14246
HgeneTgene
Gene symbol

GABRG1

DHX8

Gene ID

2565

1659

Gene namegamma-aminobutyric acid type A receptor gamma1 subunitDEAH-box helicase 8
Synonyms-DDX8|Dhr2|HRH1|PRP22|PRPF22
Cytomap

4p12

17q21.31

Type of geneprotein-codingprotein-coding
Descriptiongamma-aminobutyric acid receptor subunit gamma-1GABA(A) receptor subunit gamma-1GABA(A) receptor, gammagamma-1 polypeptidegamma-aminobutyric acid (GABA) A receptor, gamma 1ATP-dependent RNA helicase DHX8DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)DEAH (Asp-Glu-Ala-His) box polypeptide 8DEAH box protein 8RNA helicase HRH1
Modification date2018052320180523
UniProtAcc

Q8N1C3

Q14562

Ensembl transtripts involved in fusion geneENST00000295452, ENST00000540306, 
ENST00000262415, 
Fusion gene scores* DoF score1 X 1 X 1=13 X 2 X 3=18
# samples 13
** MAII scorelog2(1/1*10)=3.32192809488736log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: GABRG1 [Title/Abstract] AND DHX8 [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
TgeneDHX8

GO:0000398

mRNA splicing, via spliceosome

28076346


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
TCGALDSKCMTCGA-FS-A1Z4-06AGABRG1chr4

46125827

-DHX8chr17

41566817

+
* 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
Frame-shiftENST00000295452ENST00000540306GABRG1chr4

46125827

-DHX8chr17

41566817

+
Frame-shiftENST00000295452ENST00000262415GABRG1chr4

46125827

-DHX8chr17

41566817

+

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FusionProtFeatures for GABRG1_DHX8


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
GABRG1

Q8N1C3

DHX8

Q14562

GABA, the major inhibitory neurotransmitter in thevertebrate brain, mediates neuronal inhibition by binding to theGABA/benzodiazepine receptor and opening an integral chloridechannel. Involved in pre-mRNA splicing as component of thespliceosome (PubMed:11991638, PubMed:28502770, PubMed:28076346).Facilitates nuclear export of spliced mRNA by releasing the RNAfrom the spliceosome (PubMed:8608946).{ECO:0000269|PubMed:11991638, ECO:0000269|PubMed:28076346,ECO:0000269|PubMed:28502770, ECO:0000269|PubMed:8608946}.

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 GABRG1_DHX8


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 GABRG1_DHX8


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
GABRG1GABRG2DHX8USP12, SIRT7, CUL3, CAND1, SMAD2, SMAD3, CRNKL1, PHF5A, KANSL1, MYPN, TAF9, POLR1B, NOTCH1, PRPF40A, CHERP, PRPF38A, ISY1, RBMX2, MFAP1, DHX8, THOC1, RBM7, SAP30BP, NKAP, ZCCHC10, BAG3, SRPK2, SRPK1, LIN28A, XRN2, NUDCD1, ENO1, SHMT2, MOV10, NXF1, OBSL1, RPL26L1, RPL26, RBM28, FTSJ3, CACTIN, RPL10A, RPL5, C11orf57, XAB2, RSL1D1, CDC5L, AQR, SNW1, MORC2, AHCYL2, AHCYL1, NOP2, CCDC12, RPL15, JMJD6, RPL32, RPL36AL, CDC40, SNIP1, PRPF19, NTRK1, IFI16, CHCHD10, HIST1H1T, CDX1, SYF2, RPL18A, PNN, PPIE, CD2BP2, EAPP, TSSC4, DLST, TRIM25


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 GABRG1_DHX8


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneGABRG1Q8N1C3DB00546AdinazolamGamma-aminobutyric acid receptor subunit gamma-1small moleculeapproved
HgeneGABRG1Q8N1C3DB00842OxazepamGamma-aminobutyric acid receptor subunit gamma-1small moleculeapproved
HgeneGABRG1Q8N1C3DB00898EthanolGamma-aminobutyric acid receptor subunit gamma-1small moleculeapproved
HgeneGABRG1Q8N1C3DB01587KetazolamGamma-aminobutyric acid receptor subunit gamma-1small moleculeapproved
HgeneGABRG1Q8N1C3DB01594CinolazepamGamma-aminobutyric acid receptor subunit gamma-1small moleculeapproved
HgeneGABRG1Q8N1C3DB01595NitrazepamGamma-aminobutyric acid receptor subunit gamma-1small moleculeapproved
HgeneGABRG1Q8N1C3DB00683MidazolamGamma-aminobutyric acid receptor subunit gamma-1small moleculeapproved|illicit
HgeneGABRG1Q8N1C3DB01215EstazolamGamma-aminobutyric acid receptor subunit gamma-1small moleculeapproved|illicit
HgeneGABRG1Q8N1C3DB01559ClotiazepamGamma-aminobutyric acid receptor subunit gamma-1small moleculeapproved|illicit
HgeneGABRG1Q8N1C3DB01567FludiazepamGamma-aminobutyric acid receptor subunit gamma-1small moleculeapproved|illicit
HgeneGABRG1Q8N1C3DB01588PrazepamGamma-aminobutyric acid receptor subunit gamma-1small moleculeapproved|illicit
HgeneGABRG1Q8N1C3DB01589QuazepamGamma-aminobutyric acid receptor subunit gamma-1small moleculeapproved|illicit
HgeneGABRG1Q8N1C3DB00690FlurazepamGamma-aminobutyric acid receptor subunit gamma-1small moleculeapproved|illicit|investigational
HgeneGABRG1Q8N1C3DB01558BromazepamGamma-aminobutyric acid receptor subunit gamma-1small moleculeapproved|illicit|investigational
HgeneGABRG1Q8N1C3DB00829DiazepamGamma-aminobutyric acid receptor subunit gamma-1small moleculeapproved|illicit|investigational|vet_approved
HgeneGABRG1Q8N1C3DB00801HalazepamGamma-aminobutyric acid receptor subunit gamma-1small moleculeapproved|illicit|withdrawn
HgeneGABRG1Q8N1C3DB00231TemazepamGamma-aminobutyric acid receptor subunit gamma-1small moleculeapproved|investigational
HgeneGABRG1Q8N1C3DB00897TriazolamGamma-aminobutyric acid receptor subunit gamma-1small moleculeapproved|investigational

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RelatedDiseases for GABRG1_DHX8


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGABRG1C0001973Alcoholic Intoxication, Chronic4PSYGENET
HgeneGABRG1C0005586Bipolar Disorder1PSYGENET