![]() |
||||||
|
![]() | 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:DSCR8-GABRB3 (FusionGDB2 ID:HG84677TG2562) |
Fusion Gene Summary for DSCR8-GABRB3 |
![]() |
Fusion gene information | Fusion gene name: DSCR8-GABRB3 | Fusion gene ID: hg84677tg2562 | Hgene | Tgene | Gene symbol | DSCR8 | GABRB3 | Gene ID | 84677 | 2562 |
Gene name | Down syndrome critical region 8 | gamma-aminobutyric acid type A receptor subunit beta3 | |
Synonyms | C21orf65|CT25.1a|CT25.1b|MMA-1|MMA-1a|MMA-1b|MMA1|MTAG2 | ECA5|EIEE43 | |
Cytomap | ('DSCR8')('GABRB3') 21q22.13 | 15q12 | |
Type of gene | ncRNA | protein-coding | |
Description | Down syndrome critical region 8 (non-protein coding)Down syndrome critical region gene 8cancer/testis antigen family 25, member 1acancer/testis antigen family 25, member 1bmalignant melanoma associated protein 1malignant melanoma-associated 1melanom | 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 | . | P28472 | |
Ensembl transtripts involved in fusion gene | ENST00000357704, ENST00000400477, ENST00000465532, | ||
Fusion gene scores | * DoF score | 3 X 3 X 1=9 | 6 X 5 X 3=90 |
# samples | 3 | 6 | |
** MAII score | log2(3/9*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). 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: DSCR8 [Title/Abstract] AND GABRB3 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | DSCR8(39528597)-GABRB3(26843394), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
![]() |
Partner | Gene | GO ID | GO term | PubMed ID |
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 |
Top |
Fusion Gene ORF analysis for DSCR8-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 |
![]() |
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) |
![]() |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
Top |
Fusion Genomic Features for DSCR8-GABRB3 |
![]() |
Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
Top |
Fusion Protein Features for DSCR8-GABRB3 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:39528597/:26843394) - 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. |
![]() |
![]() |
Hgene | Tgene |
. | GABRB3 |
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. | 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 |
Top |
Fusion Gene Sequence for DSCR8-GABRB3 |
![]() |
Top |
Fusion Gene PPI Analysis for DSCR8-GABRB3 |
![]() |
![]() |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
Related Drugs for DSCR8-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 |
Top |
Related Diseases for DSCR8-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 |