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Fusion gene ID: 14249 |
FusionGeneSummary for GABRG3_CEP350 |
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Fusion gene information | Fusion gene name: GABRG3_CEP350 | Fusion gene ID: 14249 | Hgene | Tgene | Gene symbol | GABRG3 | CEP350 | Gene ID | 2567 | 9857 |
Gene name | gamma-aminobutyric acid type A receptor gamma3 subunit | centrosomal protein 350 | |
Synonyms | - | CAP350|GM133 | |
Cytomap | 15q12 | 1q25.2 | |
Type of gene | protein-coding | protein-coding | |
Description | gamma-aminobutyric acid receptor subunit gamma-3GABA(A) receptor subunit gamma-3GABA(G) receptor, gamma 3gamma-aminobutyric acid (GABA) A receptor, gamma 3 | centrosome-associated protein 350centrosomal protein 350kDa | |
Modification date | 20180523 | 20180522 | |
UniProtAcc | Q99928 | Q5VT06 | |
Ensembl transtripts involved in fusion gene | ENST00000333743, ENST00000555083, ENST00000554786, | ENST00000367607, ENST00000490141, | |
Fusion gene scores | * DoF score | 4 X 3 X 4=48 | 4 X 4 X 1=16 |
# samples | 5 | 4 | |
** MAII score | log2(5/48*10)=0.0588936890535686 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(4/16*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: GABRG3 [Title/Abstract] AND CEP350 [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | DB067484 | GABRG3 | chr15 | 27406167 | - | CEP350 | chr1 | 180044155 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 |
intron-3CDS | ENST00000333743 | ENST00000367607 | GABRG3 | chr15 | 27406167 | - | CEP350 | chr1 | 180044155 | + |
intron-intron | ENST00000333743 | ENST00000490141 | GABRG3 | chr15 | 27406167 | - | CEP350 | chr1 | 180044155 | + |
intron-3CDS | ENST00000555083 | ENST00000367607 | GABRG3 | chr15 | 27406167 | - | CEP350 | chr1 | 180044155 | + |
intron-intron | ENST00000555083 | ENST00000490141 | GABRG3 | chr15 | 27406167 | - | CEP350 | chr1 | 180044155 | + |
intron-3CDS | ENST00000554786 | ENST00000367607 | GABRG3 | chr15 | 27406167 | - | CEP350 | chr1 | 180044155 | + |
intron-intron | ENST00000554786 | ENST00000490141 | GABRG3 | chr15 | 27406167 | - | CEP350 | chr1 | 180044155 | + |
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FusionProtFeatures for GABRG3_CEP350 |
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Hgene | Tgene |
GABRG3 | CEP350 |
GABA, the major inhibitory neurotransmitter in thevertebrate brain, mediates neuronal inhibition by binding to theGABA/benzodiazepine receptor and opening an integral chloridechannel. | Plays an essential role in centriole growth bystabilizing a procentriolar seed composed of at least, SASS6 andCENPJ (PubMed:19052644). Required for anchoring microtubules tothe centrosomes and for the integrity of the microtubule network(PubMed:16314388, PubMed:17878239, PubMed:28659385). RecruitsPPARA to discrete subcellular compartments and thereby modulatesPPARA activity (PubMed:15615782). Required for ciliation(PubMed:28659385). {ECO:0000269|PubMed:15615782,ECO:0000269|PubMed:16314388, ECO:0000269|PubMed:17878239,ECO:0000269|PubMed:19052644, ECO:0000269|PubMed:28659385}. |
![]() * 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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FusionGeneSequence for GABRG3_CEP350 |
![]() (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 GABRG3_CEP350 |
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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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RelatedDrugs for GABRG3_CEP350 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | GABRG3 | Q99928 | DB00546 | Adinazolam | Gamma-aminobutyric acid receptor subunit gamma-3 | small molecule | approved |
Hgene | GABRG3 | Q99928 | DB00842 | Oxazepam | Gamma-aminobutyric acid receptor subunit gamma-3 | small molecule | approved |
Hgene | GABRG3 | Q99928 | DB00898 | Ethanol | Gamma-aminobutyric acid receptor subunit gamma-3 | small molecule | approved |
Hgene | GABRG3 | Q99928 | DB01594 | Cinolazepam | Gamma-aminobutyric acid receptor subunit gamma-3 | small molecule | approved |
Hgene | GABRG3 | Q99928 | DB01595 | Nitrazepam | Gamma-aminobutyric acid receptor subunit gamma-3 | small molecule | approved |
Hgene | GABRG3 | Q99928 | DB00683 | Midazolam | Gamma-aminobutyric acid receptor subunit gamma-3 | small molecule | approved|illicit |
Hgene | GABRG3 | Q99928 | DB01215 | Estazolam | Gamma-aminobutyric acid receptor subunit gamma-3 | small molecule | approved|illicit |
Hgene | GABRG3 | Q99928 | DB01559 | Clotiazepam | Gamma-aminobutyric acid receptor subunit gamma-3 | small molecule | approved|illicit |
Hgene | GABRG3 | Q99928 | DB01567 | Fludiazepam | Gamma-aminobutyric acid receptor subunit gamma-3 | small molecule | approved|illicit |
Hgene | GABRG3 | Q99928 | DB01588 | Prazepam | Gamma-aminobutyric acid receptor subunit gamma-3 | small molecule | approved|illicit |
Hgene | GABRG3 | Q99928 | DB01589 | Quazepam | Gamma-aminobutyric acid receptor subunit gamma-3 | small molecule | approved|illicit |
Hgene | GABRG3 | Q99928 | DB00690 | Flurazepam | Gamma-aminobutyric acid receptor subunit gamma-3 | small molecule | approved|illicit|investigational |
Hgene | GABRG3 | Q99928 | DB01558 | Bromazepam | Gamma-aminobutyric acid receptor subunit gamma-3 | small molecule | approved|illicit|investigational |
Hgene | GABRG3 | Q99928 | DB00829 | Diazepam | Gamma-aminobutyric acid receptor subunit gamma-3 | small molecule | approved|illicit|investigational|vet_approved |
Hgene | GABRG3 | Q99928 | DB00801 | Halazepam | Gamma-aminobutyric acid receptor subunit gamma-3 | small molecule | approved|illicit|withdrawn |
Hgene | GABRG3 | Q99928 | DB00231 | Temazepam | Gamma-aminobutyric acid receptor subunit gamma-3 | small molecule | approved|investigational |
Hgene | GABRG3 | Q99928 | DB00897 | Triazolam | Gamma-aminobutyric acid receptor subunit gamma-3 | small molecule | approved|investigational |
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RelatedDiseases for GABRG3_CEP350 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | GABRG3 | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
Hgene | GABRG3 | C3711376 | Isodicentric Chromosome 15 Syndrome | 1 | CTD_human |