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Fusion gene ID: 14246 |
FusionGeneSummary for GABRG1_DHX8 |
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Fusion gene information | Fusion gene name: GABRG1_DHX8 | Fusion gene ID: 14246 | Hgene | Tgene | Gene symbol | GABRG1 | DHX8 | Gene ID | 2565 | 1659 |
Gene name | gamma-aminobutyric acid type A receptor gamma1 subunit | DEAH-box helicase 8 | |
Synonyms | - | DDX8|Dhr2|HRH1|PRP22|PRPF22 | |
Cytomap | 4p12 | 17q21.31 | |
Type of gene | protein-coding | protein-coding | |
Description | gamma-aminobutyric acid receptor subunit gamma-1GABA(A) receptor subunit gamma-1GABA(A) receptor, gammagamma-1 polypeptidegamma-aminobutyric acid (GABA) A receptor, gamma 1 | ATP-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 date | 20180523 | 20180523 | |
UniProtAcc | Q8N1C3 | Q14562 | |
Ensembl transtripts involved in fusion gene | ENST00000295452, | ENST00000540306, ENST00000262415, | |
Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 3 X 2 X 3=18 |
# samples | 1 | 3 | |
** MAII score | log2(1/1*10)=3.32192809488736 | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | DHX8 | GO:0000398 | mRNA splicing, via spliceosome | 28076346 |
![]() (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 |
TCGA | LD | SKCM | TCGA-FS-A1Z4-06A | GABRG1 | chr4 | 46125827 | - | DHX8 | chr17 | 41566817 | + |
* 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 |
Frame-shift | ENST00000295452 | ENST00000540306 | GABRG1 | chr4 | 46125827 | - | DHX8 | chr17 | 41566817 | + |
Frame-shift | ENST00000295452 | ENST00000262415 | GABRG1 | chr4 | 46125827 | - | DHX8 | chr17 | 41566817 | + |
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FusionProtFeatures for GABRG1_DHX8 |
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Hgene | Tgene |
GABRG1 | DHX8 |
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}. |
![]() * 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 GABRG1_DHX8 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
GABRG1 | GABRG2 | DHX8 | USP12, 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 |
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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 GABRG1_DHX8 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | GABRG1 | Q8N1C3 | DB00546 | Adinazolam | Gamma-aminobutyric acid receptor subunit gamma-1 | small molecule | approved |
Hgene | GABRG1 | Q8N1C3 | DB00842 | Oxazepam | Gamma-aminobutyric acid receptor subunit gamma-1 | small molecule | approved |
Hgene | GABRG1 | Q8N1C3 | DB00898 | Ethanol | Gamma-aminobutyric acid receptor subunit gamma-1 | small molecule | approved |
Hgene | GABRG1 | Q8N1C3 | DB01587 | Ketazolam | Gamma-aminobutyric acid receptor subunit gamma-1 | small molecule | approved |
Hgene | GABRG1 | Q8N1C3 | DB01594 | Cinolazepam | Gamma-aminobutyric acid receptor subunit gamma-1 | small molecule | approved |
Hgene | GABRG1 | Q8N1C3 | DB01595 | Nitrazepam | Gamma-aminobutyric acid receptor subunit gamma-1 | small molecule | approved |
Hgene | GABRG1 | Q8N1C3 | DB00683 | Midazolam | Gamma-aminobutyric acid receptor subunit gamma-1 | small molecule | approved|illicit |
Hgene | GABRG1 | Q8N1C3 | DB01215 | Estazolam | Gamma-aminobutyric acid receptor subunit gamma-1 | small molecule | approved|illicit |
Hgene | GABRG1 | Q8N1C3 | DB01559 | Clotiazepam | Gamma-aminobutyric acid receptor subunit gamma-1 | small molecule | approved|illicit |
Hgene | GABRG1 | Q8N1C3 | DB01567 | Fludiazepam | Gamma-aminobutyric acid receptor subunit gamma-1 | small molecule | approved|illicit |
Hgene | GABRG1 | Q8N1C3 | DB01588 | Prazepam | Gamma-aminobutyric acid receptor subunit gamma-1 | small molecule | approved|illicit |
Hgene | GABRG1 | Q8N1C3 | DB01589 | Quazepam | Gamma-aminobutyric acid receptor subunit gamma-1 | small molecule | approved|illicit |
Hgene | GABRG1 | Q8N1C3 | DB00690 | Flurazepam | Gamma-aminobutyric acid receptor subunit gamma-1 | small molecule | approved|illicit|investigational |
Hgene | GABRG1 | Q8N1C3 | DB01558 | Bromazepam | Gamma-aminobutyric acid receptor subunit gamma-1 | small molecule | approved|illicit|investigational |
Hgene | GABRG1 | Q8N1C3 | DB00829 | Diazepam | Gamma-aminobutyric acid receptor subunit gamma-1 | small molecule | approved|illicit|investigational|vet_approved |
Hgene | GABRG1 | Q8N1C3 | DB00801 | Halazepam | Gamma-aminobutyric acid receptor subunit gamma-1 | small molecule | approved|illicit|withdrawn |
Hgene | GABRG1 | Q8N1C3 | DB00231 | Temazepam | Gamma-aminobutyric acid receptor subunit gamma-1 | small molecule | approved|investigational |
Hgene | GABRG1 | Q8N1C3 | DB00897 | Triazolam | Gamma-aminobutyric acid receptor subunit gamma-1 | small molecule | approved|investigational |
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RelatedDiseases for GABRG1_DHX8 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | GABRG1 | C0001973 | Alcoholic Intoxication, Chronic | 4 | PSYGENET |
Hgene | GABRG1 | C0005586 | Bipolar Disorder | 1 | PSYGENET |