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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: 14973

FusionGeneSummary for GNL3L_GABRB3

check button Fusion gene summary
Fusion gene informationFusion gene name: GNL3L_GABRB3
Fusion gene ID: 14973
HgeneTgene
Gene symbol

GNL3L

GABRB3

Gene ID

54552

2562

Gene nameG protein nucleolar 3 likegamma-aminobutyric acid type A receptor beta3 subunit
SynonymsGNL3BECA5|EIEE43
Cytomap

Xp11.22

15q12

Type of geneprotein-codingprotein-coding
Descriptionguanine nucleotide-binding protein-like 3-like proteinG protein nucleolar 3Bguanine nucleotide binding protein-like 3 (nucleolar)-likenovel GTPasegamma-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 3
Modification date2018052320180523
UniProtAcc

Q9NVN8

P28472

Ensembl transtripts involved in fusion geneENST00000336470, ENST00000360845, 
ENST00000489691, 		ENST00000311550, 
ENST00000541819, ENST00000299267, 
ENST00000400188, ENST00000545868, 
ENST00000557641, 
Fusion gene scores* DoF score4 X 5 X 4=801 X 1 X 1=1
# samples 61
** MAII scorelog2(6/80*10)=-0.415037499278844
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(1/1*10)=3.32192809488736
Context

PubMed: GNL3L [Title/Abstract] AND GABRB3 [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
HgeneGNL3L

GO:0031647

regulation of protein stability

19487455

HgeneGNL3L

GO:0032091

negative regulation of protein binding

19487455

HgeneGNL3L

GO:1904816

positive regulation of protein localization to chromosome, telomeric region

19487455

TgeneGABRB3

GO:0071420

cellular response to histamine

18281286

TgeneGABRB3

GO:1902476

chloride transmembrane transport

9039914


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
TCGARVSARCTCGA-UE-A6QU-01AGNL3LchrX

54559018

+GABRB3chr15

26828561

-
* 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-shiftENST00000336470ENST00000311550GNL3LchrX

54559018

+GABRB3chr15

26828561

-
Frame-shiftENST00000336470ENST00000541819GNL3LchrX

54559018

+GABRB3chr15

26828561

-
Frame-shiftENST00000336470ENST00000299267GNL3LchrX

54559018

+GABRB3chr15

26828561

-
Frame-shiftENST00000336470ENST00000400188GNL3LchrX

54559018

+GABRB3chr15

26828561

-
Frame-shiftENST00000336470ENST00000545868GNL3LchrX

54559018

+GABRB3chr15

26828561

-
5CDS-intronENST00000336470ENST00000557641GNL3LchrX

54559018

+GABRB3chr15

26828561

-
Frame-shiftENST00000360845ENST00000311550GNL3LchrX

54559018

+GABRB3chr15

26828561

-
Frame-shiftENST00000360845ENST00000541819GNL3LchrX

54559018

+GABRB3chr15

26828561

-
Frame-shiftENST00000360845ENST00000299267GNL3LchrX

54559018

+GABRB3chr15

26828561

-
Frame-shiftENST00000360845ENST00000400188GNL3LchrX

54559018

+GABRB3chr15

26828561

-
Frame-shiftENST00000360845ENST00000545868GNL3LchrX

54559018

+GABRB3chr15

26828561

-
5CDS-intronENST00000360845ENST00000557641GNL3LchrX

54559018

+GABRB3chr15

26828561

-
3UTR-3CDSENST00000489691ENST00000311550GNL3LchrX

54559018

+GABRB3chr15

26828561

-
3UTR-3CDSENST00000489691ENST00000541819GNL3LchrX

54559018

+GABRB3chr15

26828561

-
3UTR-3CDSENST00000489691ENST00000299267GNL3LchrX

54559018

+GABRB3chr15

26828561

-
3UTR-3CDSENST00000489691ENST00000400188GNL3LchrX

54559018

+GABRB3chr15

26828561

-
3UTR-3CDSENST00000489691ENST00000545868GNL3LchrX

54559018

+GABRB3chr15

26828561

-
3UTR-intronENST00000489691ENST00000557641GNL3LchrX

54559018

+GABRB3chr15

26828561

-

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FusionProtFeatures for GNL3L_GABRB3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
GNL3L

Q9NVN8

GABRB3

P28472

Stabilizes TERF1 telomeric association by preventingTERF1 recruitment by PML. Stabilizes TERF1 protein by preventingits ubiquitination and hence proteasomal degradation. Does so byinterfering with TERF1-binding to FBXO4 E3 ubiquitin-proteinligase. Required for cell proliferation. By stabilizing TRF1protein during mitosis, promotes metaphase-to-anaphase transition.Stabilizes MDM2 protein by preventing its ubiquitination, andhence proteasomal degradation. By acting on MDM2, may affect TP53activity. Required for normal processing of ribosomal pre-rRNA.Binds GTP. {ECO:0000269|PubMed:16251348,ECO:0000269|PubMed:17034816, ECO:0000269|PubMed:19487455,ECO:0000269|PubMed:21132010}. 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}.

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 GNL3L_GABRB3


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 GNL3L_GABRB3


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
GNL3LLDOC1, MDM2, TP53, TERF1, TERT, ELAVL1, SLC2A4, ADRB2, ALAS1, ROPN1, LZTS2, BRCA1, BSG, NT5E, PRSS50, TGOLN2, OLFM4, FTSJ3, GTPBP4, SRP72, NMD3, NOP58, OLA1, PES1, KRAS, HIST1H2BG, HNRNPU, RPL10, SMC3, FTSJ1, EXOSC5, CD70, ERP44, APLNR, LAMP2, PROZ, BBS7, TOR1AIP2, FAM174A, TRIM25GABRB3AKAP5, PRKCA, PRKACA, UBQLN1, MEOX2, MCOLN3, GABRB2, GABRA6, ASIC4


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 GNL3L_GABRB3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneGABRB3P28472DB00425ZolpidemGamma-aminobutyric acid receptor subunit beta-3small moleculeapproved
TgeneGABRB3P28472DB00546AdinazolamGamma-aminobutyric acid receptor subunit beta-3small moleculeapproved
TgeneGABRB3P28472DB00842OxazepamGamma-aminobutyric acid receptor subunit beta-3small moleculeapproved
TgeneGABRB3P28472DB00898EthanolGamma-aminobutyric acid receptor subunit beta-3small moleculeapproved
TgeneGABRB3P28472DB01594CinolazepamGamma-aminobutyric acid receptor subunit beta-3small moleculeapproved
TgeneGABRB3P28472DB01595NitrazepamGamma-aminobutyric acid receptor subunit beta-3small moleculeapproved
TgeneGABRB3P28472DB00683MidazolamGamma-aminobutyric acid receptor subunit beta-3small moleculeapproved|illicit
TgeneGABRB3P28472DB01215EstazolamGamma-aminobutyric acid receptor subunit beta-3small moleculeapproved|illicit
TgeneGABRB3P28472DB01544FlunitrazepamGamma-aminobutyric acid receptor subunit beta-3small moleculeapproved|illicit
TgeneGABRB3P28472DB01559ClotiazepamGamma-aminobutyric acid receptor subunit beta-3small moleculeapproved|illicit
TgeneGABRB3P28472DB01567FludiazepamGamma-aminobutyric acid receptor subunit beta-3small moleculeapproved|illicit
TgeneGABRB3P28472DB01588PrazepamGamma-aminobutyric acid receptor subunit beta-3small moleculeapproved|illicit
TgeneGABRB3P28472DB01589QuazepamGamma-aminobutyric acid receptor subunit beta-3small moleculeapproved|illicit
TgeneGABRB3P28472DB00690FlurazepamGamma-aminobutyric acid receptor subunit beta-3small moleculeapproved|illicit|investigational
TgeneGABRB3P28472DB01558BromazepamGamma-aminobutyric acid receptor subunit beta-3small moleculeapproved|illicit|investigational
TgeneGABRB3P28472DB00829DiazepamGamma-aminobutyric acid receptor subunit beta-3small moleculeapproved|illicit|investigational|vet_approved
TgeneGABRB3P28472DB00801HalazepamGamma-aminobutyric acid receptor subunit beta-3small moleculeapproved|illicit|withdrawn
TgeneGABRB3P28472DB00231TemazepamGamma-aminobutyric acid receptor subunit beta-3small moleculeapproved|investigational
TgeneGABRB3P28472DB00897TriazolamGamma-aminobutyric acid receptor subunit beta-3small moleculeapproved|investigational
TgeneGABRB3P28472DB00602IvermectinGamma-aminobutyric acid receptor subunit beta-3small moleculeapproved|investigational|vet_approved
TgeneGABRB3P28472DB00818PropofolGamma-aminobutyric acid receptor subunit beta-3small moleculeapproved|investigational|vet_approved
TgeneGABRB3P28472DB00592PiperazineGamma-aminobutyric acid receptor subunit beta-3small moleculeapproved|vet_approved
TgeneGABRB3P28472DB00431LindaneGamma-aminobutyric acid receptor subunit beta-3small moleculeapproved|withdrawn

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RelatedDiseases for GNL3L_GABRB3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneGABRB3C0011570Mental Depression5PSYGENET
TgeneGABRB3C0011581Depressive disorder5PSYGENET
TgeneGABRB3C0001973Alcoholic Intoxication, Chronic4PSYGENET
TgeneGABRB3C0004352Autistic Disorder2CTD_human
TgeneGABRB3C0005586Bipolar Disorder2PSYGENET
TgeneGABRB3C0036341Schizophrenia2PSYGENET
TgeneGABRB3C0014544Epilepsy1CTD_human
TgeneGABRB3C0014553Absence Epilepsy1CTD_human
TgeneGABRB3C0021603Sleep Initiation and Maintenance Disorders1CTD_human
TgeneGABRB3C0162635Angelman Syndrome1CTD_human
TgeneGABRB3C0376634Craniofacial Abnormalities1CTD_human
TgeneGABRB3C1510586Autism Spectrum Disorders1CTD_human;HPO
TgeneGABRB3C2677087EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 51UNIPROT
TgeneGABRB3C3711376Isodicentric Chromosome 15 Syndrome1CTD_human