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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: 14248

FusionGeneSummary for GABRG2_SCD

check button Fusion gene summary
Fusion gene informationFusion gene name: GABRG2_SCD
Fusion gene ID: 14248
HgeneTgene
Gene symbol

GABRG2

SCD

Gene ID

2566

6319

Gene namegamma-aminobutyric acid type A receptor gamma2 subunitstearoyl-CoA desaturase
SynonymsCAE2|ECA2|GEFSP3FADS5|MSTP008|SCD1|SCDOS|hSCD1
Cytomap

5q34

10q24.31

Type of geneprotein-codingprotein-coding
Descriptiongamma-aminobutyric acid receptor subunit gamma-2GABA(A) receptor subunit gamma-2GABA(A) receptor, gamma 2gamma-aminobutyric acid (GABA) A receptor, gamma 2acyl-CoA desaturasedelta(9)-desaturasefatty acid desaturasepredicted protein of HQ0998stearoyl-CoA desaturase (delta-9-desaturase)stearoyl-CoA desaturase opposite strand
Modification date2018052320180523
UniProtAcc

P18507

O00767

Ensembl transtripts involved in fusion geneENST00000356592, ENST00000414552, 
ENST00000361925, ENST00000393933, 
ENST00000370355, 
Fusion gene scores* DoF score2 X 2 X 1=47 X 7 X 3=147
# samples 27
** MAII scorelog2(2/4*10)=2.32192809488736log2(7/147*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GABRG2 [Title/Abstract] AND SCD [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
TgeneSCD

GO:0006636

unsaturated fatty acid biosynthetic process

15907797|18765284


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
ChiTaRS3.1AA985118GABRG2chr5

161582396

-SCDchr10

102120947

-
* 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
3UTR-3UTRENST00000356592ENST00000370355GABRG2chr5

161582396

-SCDchr10

102120947

-
3UTR-3UTRENST00000414552ENST00000370355GABRG2chr5

161582396

-SCDchr10

102120947

-
intron-3UTRENST00000361925ENST00000370355GABRG2chr5

161582396

-SCDchr10

102120947

-
intron-3UTRENST00000393933ENST00000370355GABRG2chr5

161582396

-SCDchr10

102120947

-

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FusionProtFeatures for GABRG2_SCD


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
GABRG2

P18507

SCD

O00767

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:2538761}.

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 GABRG2_SCD


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 GABRG2_SCD


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 GABRG2_SCD


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneGABRG2P18507DB00395CarisoprodolGamma-aminobutyric acid receptor subunit gamma-2small moleculeapproved
HgeneGABRG2P18507DB00425ZolpidemGamma-aminobutyric acid receptor subunit gamma-2small moleculeapproved
HgeneGABRG2P18507DB00546AdinazolamGamma-aminobutyric acid receptor subunit gamma-2small moleculeapproved
HgeneGABRG2P18507DB00842OxazepamGamma-aminobutyric acid receptor subunit gamma-2small moleculeapproved
HgeneGABRG2P18507DB01205FlumazenilGamma-aminobutyric acid receptor subunit gamma-2small moleculeapproved
HgeneGABRG2P18507DB01594CinolazepamGamma-aminobutyric acid receptor subunit gamma-2small moleculeapproved
HgeneGABRG2P18507DB01595NitrazepamGamma-aminobutyric acid receptor subunit gamma-2small moleculeapproved
HgeneGABRG2P18507DB09166EtizolamGamma-aminobutyric acid receptor subunit gamma-2small moleculeapproved
HgeneGABRG2P18507DB13872LormetazepamGamma-aminobutyric acid receptor subunit gamma-2small moleculeapproved
HgeneGABRG2P18507DB00683MidazolamGamma-aminobutyric acid receptor subunit gamma-2small moleculeapproved|illicit
HgeneGABRG2P18507DB01215EstazolamGamma-aminobutyric acid receptor subunit gamma-2small moleculeapproved|illicit
HgeneGABRG2P18507DB01544FlunitrazepamGamma-aminobutyric acid receptor subunit gamma-2small moleculeapproved|illicit
HgeneGABRG2P18507DB01559ClotiazepamGamma-aminobutyric acid receptor subunit gamma-2small moleculeapproved|illicit
HgeneGABRG2P18507DB01567FludiazepamGamma-aminobutyric acid receptor subunit gamma-2small moleculeapproved|illicit
HgeneGABRG2P18507DB01588PrazepamGamma-aminobutyric acid receptor subunit gamma-2small moleculeapproved|illicit
HgeneGABRG2P18507DB01589QuazepamGamma-aminobutyric acid receptor subunit gamma-2small moleculeapproved|illicit
HgeneGABRG2P18507DB00690FlurazepamGamma-aminobutyric acid receptor subunit gamma-2small moleculeapproved|illicit|investigational
HgeneGABRG2P18507DB01558BromazepamGamma-aminobutyric acid receptor subunit gamma-2small moleculeapproved|illicit|investigational
HgeneGABRG2P18507DB00829DiazepamGamma-aminobutyric acid receptor subunit gamma-2small moleculeapproved|illicit|investigational|vet_approved
HgeneGABRG2P18507DB00801HalazepamGamma-aminobutyric acid receptor subunit gamma-2small moleculeapproved|illicit|withdrawn
HgeneGABRG2P18507DB00231TemazepamGamma-aminobutyric acid receptor subunit gamma-2small moleculeapproved|investigational
HgeneGABRG2P18507DB00897TriazolamGamma-aminobutyric acid receptor subunit gamma-2small moleculeapproved|investigational
HgeneGABRG2P18507DB01381Ginkgo bilobaGamma-aminobutyric acid receptor subunit gamma-2small moleculeapproved|investigational|nutraceutical

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RelatedDiseases for GABRG2_SCD


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGABRG2C0036341Schizophrenia4PSYGENET
HgeneGABRG2C0001973Alcoholic Intoxication, Chronic3CTD_human;PSYGENET
HgeneGABRG2C1858674GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 32CTD_human;UNIPROT
HgeneGABRG2C0009952Febrile Convulsions1CTD_human;HPO
HgeneGABRG2C0019151Hepatic Encephalopathy1CTD_human
HgeneGABRG2C0236733Amphetamine-Related Disorders1CTD_human
HgeneGABRG2C0236736Cocaine-Related Disorders1CTD_human
HgeneGABRG2C1843244EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 21UNIPROT
TgeneSCDC0024667Animal Mammary Neoplasms2CTD_human
TgeneSCDC0024668Mammary Neoplasms, Experimental2CTD_human
TgeneSCDC0023794Lipoidosis1CTD_human
TgeneSCDC0023903Liver neoplasms1CTD_human
TgeneSCDC0339143Thyroid associated opthalmopathies1CTD_human
TgeneSCDC2239176Liver carcinoma1CTD_human