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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: 14235

FusionGeneSummary for GABRA3_DIAPH2

check button Fusion gene summary
Fusion gene informationFusion gene name: GABRA3_DIAPH2
Fusion gene ID: 14235
HgeneTgene
Gene symbol

GABRA3

DIAPH2

Gene ID

2556

1730

Gene namegamma-aminobutyric acid type A receptor alpha3 subunitdiaphanous related formin 2
Synonyms-DIA|DIA2|DRF2|POF|POF2|POF2A
Cytomap

Xq28

Xq21.33

Type of geneprotein-codingprotein-coding
Descriptiongamma-aminobutyric acid receptor subunit alpha-3GABA(A) receptor subunit alpha-3GABA(A) receptor, alpha 3gamma-aminobutyric acid (GABA) A receptor, alpha 3gamma-animobutyric acid (GABA) A receptor, alpha 3protein diaphanous homolog 2diaphanous homolog 2diaphorase-2
Modification date2018052320180519
UniProtAcc

P34903

O60879

Ensembl transtripts involved in fusion geneENST00000370314, ENST00000535043, 
ENST00000497894, 
ENST00000355827, 
ENST00000373054, ENST00000373061, 
ENST00000373049, ENST00000324765, 
Fusion gene scores* DoF score2 X 2 X 2=84 X 6 X 3=72
# samples 25
** MAII scorelog2(2/8*10)=1.32192809488736log2(5/72*10)=-0.526068811667588
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GABRA3 [Title/Abstract] AND DIAPH2 [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

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
TCGARVKIRCTCGA-CJ-5681-01AGABRA3chrX

151376473

-DIAPH2chrX

96684649

+
TCGALDKIRCTCGA-CJ-5681-01AGABRA3chrX

151376473

-DIAPH2chrX

96603080

+
* 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-shitENST00000370314ENST00000355827GABRA3chrX

151376473

-DIAPH2chrX

96684649

+
Frame-shitENST00000370314ENST00000373054GABRA3chrX

151376473

-DIAPH2chrX

96684649

+
Frame-shitENST00000370314ENST00000373061GABRA3chrX

151376473

-DIAPH2chrX

96684649

+
Frame-shitENST00000370314ENST00000373049GABRA3chrX

151376473

-DIAPH2chrX

96684649

+
Frame-shitENST00000370314ENST00000324765GABRA3chrX

151376473

-DIAPH2chrX

96684649

+
Frame-shitENST00000535043ENST00000355827GABRA3chrX

151376473

-DIAPH2chrX

96684649

+
Frame-shitENST00000535043ENST00000373054GABRA3chrX

151376473

-DIAPH2chrX

96684649

+
Frame-shitENST00000535043ENST00000373061GABRA3chrX

151376473

-DIAPH2chrX

96684649

+
Frame-shitENST00000535043ENST00000373049GABRA3chrX

151376473

-DIAPH2chrX

96684649

+
Frame-shitENST00000535043ENST00000324765GABRA3chrX

151376473

-DIAPH2chrX

96684649

+
intron-3CDSENST00000497894ENST00000355827GABRA3chrX

151376473

-DIAPH2chrX

96684649

+
intron-3CDSENST00000497894ENST00000373054GABRA3chrX

151376473

-DIAPH2chrX

96684649

+
intron-3CDSENST00000497894ENST00000373061GABRA3chrX

151376473

-DIAPH2chrX

96684649

+
intron-3CDSENST00000497894ENST00000373049GABRA3chrX

151376473

-DIAPH2chrX

96684649

+
intron-3CDSENST00000497894ENST00000324765GABRA3chrX

151376473

-DIAPH2chrX

96684649

+
5CDS-intronENST00000370314ENST00000355827GABRA3chrX

151376473

-DIAPH2chrX

96603080

+
5CDS-intronENST00000370314ENST00000373054GABRA3chrX

151376473

-DIAPH2chrX

96603080

+
5CDS-intronENST00000370314ENST00000373061GABRA3chrX

151376473

-DIAPH2chrX

96603080

+
5CDS-intronENST00000370314ENST00000373049GABRA3chrX

151376473

-DIAPH2chrX

96603080

+
5CDS-intronENST00000370314ENST00000324765GABRA3chrX

151376473

-DIAPH2chrX

96603080

+
5CDS-intronENST00000535043ENST00000355827GABRA3chrX

151376473

-DIAPH2chrX

96603080

+
5CDS-intronENST00000535043ENST00000373054GABRA3chrX

151376473

-DIAPH2chrX

96603080

+
5CDS-intronENST00000535043ENST00000373061GABRA3chrX

151376473

-DIAPH2chrX

96603080

+
5CDS-intronENST00000535043ENST00000373049GABRA3chrX

151376473

-DIAPH2chrX

96603080

+
5CDS-intronENST00000535043ENST00000324765GABRA3chrX

151376473

-DIAPH2chrX

96603080

+
intron-intronENST00000497894ENST00000355827GABRA3chrX

151376473

-DIAPH2chrX

96603080

+
intron-intronENST00000497894ENST00000373054GABRA3chrX

151376473

-DIAPH2chrX

96603080

+
intron-intronENST00000497894ENST00000373061GABRA3chrX

151376473

-DIAPH2chrX

96603080

+
intron-intronENST00000497894ENST00000373049GABRA3chrX

151376473

-DIAPH2chrX

96603080

+
intron-intronENST00000497894ENST00000324765GABRA3chrX

151376473

-DIAPH2chrX

96603080

+

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FusionProtFeatures for GABRA3_DIAPH2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
GABRA3

P34903

DIAPH2

O60879

GABA, the major inhibitory neurotransmitter in thevertebrate brain, mediates neuronal inhibition by binding to theGABA/benzodiazepine receptor and opening an integral chloridechannel. Could be involved in oogenesis. Involved in theregulation of endosome dynamics. Implicated in a novel signaltransduction pathway, in which isoform 3 and CSK are sequentiallyactivated by RHOD to regulate the motility of early endosomesthrough interactions with the actin cytoskeleton.{ECO:0000269|PubMed:12577064}.

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 GABRA3_DIAPH2


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 GABRA3_DIAPH2


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
GABRA3UBQLN1, UGT2B7, SDCBP2, EGFR, GABRA5, ABCA7, SEC11C, TMEM131, GLRB, TUSC3, AMIGO1, TMEM59L, TTC17, EDA, POMT1, SPCS1, WLS, ALG9, SLC47A1, HLA-C, GPAA1DIAPH2RHOD, CDC42, TCERG1, APBB1, POLR1A, PAPD5


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 GABRA3_DIAPH2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneGABRA3P34903DB00425ZolpidemGamma-aminobutyric acid receptor subunit alpha-3small moleculeapproved
HgeneGABRA3P34903DB00546AdinazolamGamma-aminobutyric acid receptor subunit alpha-3small moleculeapproved
HgeneGABRA3P34903DB00842OxazepamGamma-aminobutyric acid receptor subunit alpha-3small moleculeapproved
HgeneGABRA3P34903DB00849MethylphenobarbitalGamma-aminobutyric acid receptor subunit alpha-3small moleculeapproved
HgeneGABRA3P34903DB00898EthanolGamma-aminobutyric acid receptor subunit alpha-3small moleculeapproved
HgeneGABRA3P34903DB01198ZopicloneGamma-aminobutyric acid receptor subunit alpha-3small moleculeapproved
HgeneGABRA3P34903DB01354HeptabarbitalGamma-aminobutyric acid receptor subunit alpha-3small moleculeapproved
HgeneGABRA3P34903DB01355HexobarbitalGamma-aminobutyric acid receptor subunit alpha-3small moleculeapproved
HgeneGABRA3P34903DB01594CinolazepamGamma-aminobutyric acid receptor subunit alpha-3small moleculeapproved
HgeneGABRA3P34903DB01595NitrazepamGamma-aminobutyric acid receptor subunit alpha-3small moleculeapproved
HgeneGABRA3P34903DB09166EtizolamGamma-aminobutyric acid receptor subunit alpha-3small moleculeapproved
HgeneGABRA3P34903DB13872LormetazepamGamma-aminobutyric acid receptor subunit alpha-3small moleculeapproved
HgeneGABRA3P34903DB00306TalbutalGamma-aminobutyric acid receptor subunit alpha-3small moleculeapproved|illicit
HgeneGABRA3P34903DB00371MeprobamateGamma-aminobutyric acid receptor subunit alpha-3small moleculeapproved|illicit
HgeneGABRA3P34903DB00683MidazolamGamma-aminobutyric acid receptor subunit alpha-3small moleculeapproved|illicit
HgeneGABRA3P34903DB01215EstazolamGamma-aminobutyric acid receptor subunit alpha-3small moleculeapproved|illicit
HgeneGABRA3P34903DB01351AmobarbitalGamma-aminobutyric acid receptor subunit alpha-3small moleculeapproved|illicit
HgeneGABRA3P34903DB01352AprobarbitalGamma-aminobutyric acid receptor subunit alpha-3small moleculeapproved|illicit
HgeneGABRA3P34903DB01353ButethalGamma-aminobutyric acid receptor subunit alpha-3small moleculeapproved|illicit
HgeneGABRA3P34903DB01544FlunitrazepamGamma-aminobutyric acid receptor subunit alpha-3small moleculeapproved|illicit
HgeneGABRA3P34903DB01559ClotiazepamGamma-aminobutyric acid receptor subunit alpha-3small moleculeapproved|illicit
HgeneGABRA3P34903DB01567FludiazepamGamma-aminobutyric acid receptor subunit alpha-3small moleculeapproved|illicit
HgeneGABRA3P34903DB01588PrazepamGamma-aminobutyric acid receptor subunit alpha-3small moleculeapproved|illicit
HgeneGABRA3P34903DB01589QuazepamGamma-aminobutyric acid receptor subunit alpha-3small moleculeapproved|illicit
HgeneGABRA3P34903DB00690FlurazepamGamma-aminobutyric acid receptor subunit alpha-3small moleculeapproved|illicit|investigational
HgeneGABRA3P34903DB01558BromazepamGamma-aminobutyric acid receptor subunit alpha-3small moleculeapproved|illicit|investigational
HgeneGABRA3P34903DB00829DiazepamGamma-aminobutyric acid receptor subunit alpha-3small moleculeapproved|illicit|investigational|vet_approved
HgeneGABRA3P34903DB00801HalazepamGamma-aminobutyric acid receptor subunit alpha-3small moleculeapproved|illicit|withdrawn
HgeneGABRA3P34903DB00231TemazepamGamma-aminobutyric acid receptor subunit alpha-3small moleculeapproved|investigational
HgeneGABRA3P34903DB00402EszopicloneGamma-aminobutyric acid receptor subunit alpha-3small moleculeapproved|investigational
HgeneGABRA3P34903DB00897TriazolamGamma-aminobutyric acid receptor subunit alpha-3small moleculeapproved|investigational
HgeneGABRA3P34903DB00312PentobarbitalGamma-aminobutyric acid receptor subunit alpha-3small moleculeapproved|investigational|vet_approved
HgeneGABRA3P34903DB00418SecobarbitalGamma-aminobutyric acid receptor subunit alpha-3small moleculeapproved|vet_approved
HgeneGABRA3P34903DB00599ThiopentalGamma-aminobutyric acid receptor subunit alpha-3small moleculeapproved|vet_approved
HgeneGABRA3P34903DB00794PrimidoneGamma-aminobutyric acid receptor subunit alpha-3small moleculeapproved|vet_approved

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RelatedDiseases for GABRA3_DIAPH2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGABRA3C0005586Bipolar Disorder5PSYGENET
HgeneGABRA3C0004352Autistic Disorder1CTD_human
HgeneGABRA3C0011570Mental Depression1PSYGENET
HgeneGABRA3C0011581Depressive disorder1PSYGENET