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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:GNL3L-GABRB3 (FusionGDB2 ID:HG54552TG2562) |
Fusion Gene Summary for GNL3L-GABRB3 |
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Fusion gene information | Fusion gene name: GNL3L-GABRB3 | Fusion gene ID: hg54552tg2562 | Hgene | Tgene | Gene symbol | GNL3L | GABRB3 | Gene ID | 54552 | 2562 |
Gene name | G protein nucleolar 3 like | gamma-aminobutyric acid type A receptor subunit beta3 | |
Synonyms | GNL3B | ECA5|EIEE43 | |
Cytomap | ('GNL3L')('GABRB3') Xp11.22 | 15q12 | |
Type of gene | protein-coding | protein-coding | |
Description | guanine nucleotide-binding protein-like 3-like proteinG protein nucleolar 3Bguanine nucleotide binding protein-like 3 (nucleolar)-likenovel GTPase | gamma-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 3gamma-aminobutyric acid type A receptor beta3 subu | |
Modification date | 20200313 | 20200320 | |
UniProtAcc | Q9NVN8 | P28472 | |
Ensembl transtripts involved in fusion gene | ENST00000489691, ENST00000336470, ENST00000360845, | ||
Fusion gene scores | * DoF score | 5 X 6 X 4=120 | 6 X 5 X 3=90 |
# samples | 7 | 6 | |
** MAII score | log2(7/120*10)=-0.777607578663552 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/90*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: GNL3L [Title/Abstract] AND GABRB3 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | GNL3L(54559018)-GABRB3(26828561), # samples:2 | ||
Anticipated loss of major functional domain due to fusion event. | GNL3L-GABRB3 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. GNL3L-GABRB3 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. |
* 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 |
Hgene | GNL3L | GO:0031647 | regulation of protein stability | 19487455 |
Hgene | GNL3L | GO:0032091 | negative regulation of protein binding | 19487455 |
Hgene | GNL3L | GO:1904816 | positive regulation of protein localization to chromosome, telomeric region | 19487455 |
Tgene | GABRB3 | GO:0071420 | cellular response to histamine | 18281286 |
Tgene | GABRB3 | GO:1902476 | chloride transmembrane transport | 9039914 |
Tgene | GABRB3 | GO:1904862 | inhibitory synapse assembly | 25489750 |
![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | SARC | TCGA-UE-A6QU-01A | GNL3L | chrX | 54559018 | - | GABRB3 | chr15 | 26828561 | - |
ChimerDB4 | SARC | TCGA-UE-A6QU-01A | GNL3L | chrX | 54559018 | + | GABRB3 | chr15 | 26828561 | - |
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Fusion Gene ORF analysis for GNL3L-GABRB3 |
![]() * 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 |
3UTR-3CDS | ENST00000489691 | ENST00000299267 | GNL3L | chrX | 54559018 | + | GABRB3 | chr15 | 26828561 | - |
3UTR-3CDS | ENST00000489691 | ENST00000311550 | GNL3L | chrX | 54559018 | + | GABRB3 | chr15 | 26828561 | - |
3UTR-3CDS | ENST00000489691 | ENST00000400188 | GNL3L | chrX | 54559018 | + | GABRB3 | chr15 | 26828561 | - |
3UTR-3CDS | ENST00000489691 | ENST00000541819 | GNL3L | chrX | 54559018 | + | GABRB3 | chr15 | 26828561 | - |
3UTR-3CDS | ENST00000489691 | ENST00000545868 | GNL3L | chrX | 54559018 | + | GABRB3 | chr15 | 26828561 | - |
3UTR-intron | ENST00000489691 | ENST00000557641 | GNL3L | chrX | 54559018 | + | GABRB3 | chr15 | 26828561 | - |
5CDS-intron | ENST00000336470 | ENST00000557641 | GNL3L | chrX | 54559018 | + | GABRB3 | chr15 | 26828561 | - |
5CDS-intron | ENST00000360845 | ENST00000557641 | GNL3L | chrX | 54559018 | + | GABRB3 | chr15 | 26828561 | - |
Frame-shift | ENST00000336470 | ENST00000299267 | GNL3L | chrX | 54559018 | + | GABRB3 | chr15 | 26828561 | - |
Frame-shift | ENST00000336470 | ENST00000311550 | GNL3L | chrX | 54559018 | + | GABRB3 | chr15 | 26828561 | - |
Frame-shift | ENST00000336470 | ENST00000400188 | GNL3L | chrX | 54559018 | + | GABRB3 | chr15 | 26828561 | - |
Frame-shift | ENST00000336470 | ENST00000541819 | GNL3L | chrX | 54559018 | + | GABRB3 | chr15 | 26828561 | - |
Frame-shift | ENST00000336470 | ENST00000545868 | GNL3L | chrX | 54559018 | + | GABRB3 | chr15 | 26828561 | - |
Frame-shift | ENST00000360845 | ENST00000299267 | GNL3L | chrX | 54559018 | + | GABRB3 | chr15 | 26828561 | - |
Frame-shift | ENST00000360845 | ENST00000311550 | GNL3L | chrX | 54559018 | + | GABRB3 | chr15 | 26828561 | - |
Frame-shift | ENST00000360845 | ENST00000400188 | GNL3L | chrX | 54559018 | + | GABRB3 | chr15 | 26828561 | - |
Frame-shift | ENST00000360845 | ENST00000541819 | GNL3L | chrX | 54559018 | + | GABRB3 | chr15 | 26828561 | - |
Frame-shift | ENST00000360845 | ENST00000545868 | GNL3L | chrX | 54559018 | + | GABRB3 | chr15 | 26828561 | - |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for GNL3L-GABRB3 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for GNL3L-GABRB3 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:54559018/:26828561) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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Hgene | Tgene |
GNL3L | GABRB3 |
FUNCTION: Stabilizes TERF1 telomeric association by preventing TERF1 recruitment by PML. Stabilizes TERF1 protein by preventing its ubiquitination and hence proteasomal degradation. Does so by interfering with TERF1-binding to FBXO4 E3 ubiquitin-protein ligase. Required for cell proliferation. By stabilizing TRF1 protein during mitosis, promotes metaphase-to-anaphase transition. Stabilizes MDM2 protein by preventing its ubiquitination, and hence proteasomal degradation. By acting on MDM2, may affect TP53 activity. 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}. | FUNCTION: Ligand-gated chloride channel which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain (PubMed:18514161, PubMed:22303015, PubMed:26950270, PubMed:22243422, PubMed:24909990). Plays an important role in the formation of functional inhibitory GABAergic synapses in addition to mediating synaptic inhibition as a GABA-gated ion channel (PubMed:25489750). The gamma2 subunit is necessary but not sufficient for a rapid formation of active synaptic contacts and the synaptogenic effect of this subunit is influenced by the type of alpha and beta subunits present in the receptor pentamer (By similarity). The alpha1/beta3/gamma2 receptor exhibits synaptogenic activity (PubMed:25489750). The alpha2/beta3/gamma2 receptor shows very little or no synaptogenic activity (By similarity). Functions also as histamine receptor and mediates cellular responses to histamine (PubMed:18281286). Plays an important role in somatosensation and in the production of antinociception (By similarity). {ECO:0000250|UniProtKB:P63080, ECO:0000269|PubMed:18281286, ECO:0000269|PubMed:18514161, ECO:0000269|PubMed:22243422, ECO:0000269|PubMed:22303015, ECO:0000269|PubMed:24909990, ECO:0000269|PubMed:25489750, ECO:0000269|PubMed:26950270}. |
![]() * 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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Fusion Gene Sequence for GNL3L-GABRB3 |
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Fusion Gene PPI Analysis for GNL3L-GABRB3 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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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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Related Drugs for GNL3L-GABRB3 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | GABRB3 | P28472 | DB00898 | Ethanol | Small molecule | Approved | |
Tgene | GABRB3 | P28472 | DB06716 | Fospropofol | Potentiator | Small molecule | Approved|Illicit|Investigational |
Tgene | GABRB3 | P28472 | DB00602 | Ivermectin | Agonist | Small molecule | Approved|Investigational|Vet_approved |
Tgene | GABRB3 | P28472 | DB00818 | Propofol | Potentiator | Small molecule | Approved|Investigational|Vet_approved |
Tgene | GABRB3 | P28472 | DB00592 | Piperazine | Agonist | Small molecule | Approved|Vet_approved |
Tgene | GABRB3 | P28472 | DB00431 | Lindane | Small molecule | Approved|Withdrawn |
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Related Diseases for GNL3L-GABRB3 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | C4310712 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 | 6 | CTD_human;UNIPROT | |
Tgene | C0011570 | Mental Depression | 5 | PSYGENET | |
Tgene | C0011581 | Depressive disorder | 5 | PSYGENET | |
Tgene | C0001973 | Alcoholic Intoxication, Chronic | 4 | PSYGENET | |
Tgene | C2677087 | EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5 | 3 | GENOMICS_ENGLAND;UNIPROT | |
Tgene | C0004352 | Autistic Disorder | 2 | CTD_human | |
Tgene | C0005586 | Bipolar Disorder | 2 | PSYGENET | |
Tgene | C0014544 | Epilepsy | 2 | CTD_human | |
Tgene | C0036341 | Schizophrenia | 2 | PSYGENET | |
Tgene | C0086237 | Epilepsy, Cryptogenic | 2 | CTD_human | |
Tgene | C0236018 | Aura | 2 | CTD_human | |
Tgene | C0238111 | Lennox-Gastaut syndrome | 2 | ORPHANET | |
Tgene | C0751111 | Awakening Epilepsy | 2 | CTD_human | |
Tgene | C0001890 | Akinetic Petit Mal | 1 | CTD_human | |
Tgene | C0014553 | Absence Epilepsy | 1 | CTD_human | |
Tgene | C0021603 | Sleep Initiation and Maintenance Disorders | 1 | CTD_human | |
Tgene | C0033139 | Primary Insomnia | 1 | CTD_human | |
Tgene | C0162635 | Angelman Syndrome | 1 | CTD_human | |
Tgene | C0270541 | Rebound Insomnia | 1 | CTD_human | |
Tgene | C0349255 | Nonorganic Insomnia | 1 | CTD_human | |
Tgene | C0376634 | Craniofacial Abnormalities | 1 | CTD_human | |
Tgene | C0393759 | Transient Insomnia | 1 | CTD_human | |
Tgene | C0541798 | Early Awakening | 1 | CTD_human | |
Tgene | C0751124 | Epilepsy, Absence, Atypical | 1 | CTD_human | |
Tgene | C0751249 | Chronic Insomnia | 1 | CTD_human | |
Tgene | C0751250 | Psychophysiological Insomnia | 1 | CTD_human | |
Tgene | C0751251 | Secondary Insomnia | 1 | CTD_human | |
Tgene | C0751252 | Sleep Initiation Dysfunction | 1 | CTD_human | |
Tgene | C0917801 | Sleeplessness | 1 | CTD_human | |
Tgene | C1510586 | Autism Spectrum Disorders | 1 | CTD_human | |
Tgene | C1535926 | Neurodevelopmental Disorders | 1 | CTD_human | |
Tgene | C1838604 | EPILEPSY, CHILDHOOD ABSENCE, 1 | 1 | ORPHANET | |
Tgene | C3711376 | Isodicentric Chromosome 15 Syndrome | 1 | CTD_human | |
Tgene | C4281785 | Childhood Absence Epilepsy | 1 | CTD_human | |
Tgene | C4317339 | Juvenile Absence Epilepsy | 1 | CTD_human | |
Tgene | C4552765 | Epilepsy, Minor | 1 | CTD_human | |
Tgene | C4553705 | Absence Seizure Disorder | 1 | CTD_human |