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Fusion gene ID: 43313 |
FusionGeneSummary for ZNF430_GABRB1 |
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Fusion gene information | Fusion gene name: ZNF430_GABRB1 | Fusion gene ID: 43313 | Hgene | Tgene | Gene symbol | ZNF430 | GABRB1 | Gene ID | 80264 | 2560 |
Gene name | zinc finger protein 430 | gamma-aminobutyric acid type A receptor beta1 subunit | |
Synonyms | - | EIEE45 | |
Cytomap | 19p12 | 4p12 | |
Type of gene | protein-coding | protein-coding | |
Description | zinc finger protein 430 | gamma-aminobutyric acid receptor subunit beta-1gamma-aminobutyric acid (GABA) A receptor, beta 1 | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | Q9H8G1 | P18505 | |
Ensembl transtripts involved in fusion gene | ENST00000261560, ENST00000599548, ENST00000595401, | ENST00000295454, ENST00000538619, ENST00000509366, | |
Fusion gene scores | * DoF score | 5 X 2 X 4=40 | 5 X 2 X 4=40 |
# samples | 5 | 5 | |
** MAII score | log2(5/40*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(5/40*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: ZNF430 [Title/Abstract] AND GABRB1 [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 |
Tgene | GABRB1 | GO:1902476 | chloride transmembrane transport | 9039914 |
![]() (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 |
TCGA | RV | LUSC | TCGA-34-5241-01A | ZNF430 | chr19 | 21216990 | + | GABRB1 | chr4 | 47033931 | + |
* 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 |
Frame-shift | ENST00000261560 | ENST00000295454 | ZNF430 | chr19 | 21216990 | + | GABRB1 | chr4 | 47033931 | + |
5CDS-5UTR | ENST00000261560 | ENST00000538619 | ZNF430 | chr19 | 21216990 | + | GABRB1 | chr4 | 47033931 | + |
5CDS-3UTR | ENST00000261560 | ENST00000509366 | ZNF430 | chr19 | 21216990 | + | GABRB1 | chr4 | 47033931 | + |
Frame-shift | ENST00000599548 | ENST00000295454 | ZNF430 | chr19 | 21216990 | + | GABRB1 | chr4 | 47033931 | + |
5CDS-5UTR | ENST00000599548 | ENST00000538619 | ZNF430 | chr19 | 21216990 | + | GABRB1 | chr4 | 47033931 | + |
5CDS-3UTR | ENST00000599548 | ENST00000509366 | ZNF430 | chr19 | 21216990 | + | GABRB1 | chr4 | 47033931 | + |
Frame-shift | ENST00000595401 | ENST00000295454 | ZNF430 | chr19 | 21216990 | + | GABRB1 | chr4 | 47033931 | + |
5CDS-5UTR | ENST00000595401 | ENST00000538619 | ZNF430 | chr19 | 21216990 | + | GABRB1 | chr4 | 47033931 | + |
5CDS-3UTR | ENST00000595401 | ENST00000509366 | ZNF430 | chr19 | 21216990 | + | GABRB1 | chr4 | 47033931 | + |
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FusionProtFeatures for ZNF430_GABRB1 |
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Hgene | Tgene |
ZNF430 | GABRB1 |
May be involved in transcriptional regulation. | 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: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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FusionGeneSequence for ZNF430_GABRB1 |
![]() (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 ZNF430_GABRB1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
ZNF430 | FBL, NEUROG3, CLEC3A, HRC, ZNF223, RPS14, VWCE | GABRB1 | UBQLN1, CUL1, NOD1, NEUROD4, HSPA8 |
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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 ZNF430_GABRB1 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | GABRB1 | P18505 | DB00546 | Adinazolam | Gamma-aminobutyric acid receptor subunit beta-1 | small molecule | approved |
Tgene | GABRB1 | P18505 | DB00842 | Oxazepam | Gamma-aminobutyric acid receptor subunit beta-1 | small molecule | approved |
Tgene | GABRB1 | P18505 | DB00898 | Ethanol | Gamma-aminobutyric acid receptor subunit beta-1 | small molecule | approved |
Tgene | GABRB1 | P18505 | DB01587 | Ketazolam | Gamma-aminobutyric acid receptor subunit beta-1 | small molecule | approved |
Tgene | GABRB1 | P18505 | DB01594 | Cinolazepam | Gamma-aminobutyric acid receptor subunit beta-1 | small molecule | approved |
Tgene | GABRB1 | P18505 | DB01595 | Nitrazepam | Gamma-aminobutyric acid receptor subunit beta-1 | small molecule | approved |
Tgene | GABRB1 | P18505 | DB00683 | Midazolam | Gamma-aminobutyric acid receptor subunit beta-1 | small molecule | approved|illicit |
Tgene | GABRB1 | P18505 | DB01215 | Estazolam | Gamma-aminobutyric acid receptor subunit beta-1 | small molecule | approved|illicit |
Tgene | GABRB1 | P18505 | DB01559 | Clotiazepam | Gamma-aminobutyric acid receptor subunit beta-1 | small molecule | approved|illicit |
Tgene | GABRB1 | P18505 | DB01567 | Fludiazepam | Gamma-aminobutyric acid receptor subunit beta-1 | small molecule | approved|illicit |
Tgene | GABRB1 | P18505 | DB01588 | Prazepam | Gamma-aminobutyric acid receptor subunit beta-1 | small molecule | approved|illicit |
Tgene | GABRB1 | P18505 | DB01589 | Quazepam | Gamma-aminobutyric acid receptor subunit beta-1 | small molecule | approved|illicit |
Tgene | GABRB1 | P18505 | DB00690 | Flurazepam | Gamma-aminobutyric acid receptor subunit beta-1 | small molecule | approved|illicit|investigational |
Tgene | GABRB1 | P18505 | DB01558 | Bromazepam | Gamma-aminobutyric acid receptor subunit beta-1 | small molecule | approved|illicit|investigational |
Tgene | GABRB1 | P18505 | DB00829 | Diazepam | Gamma-aminobutyric acid receptor subunit beta-1 | small molecule | approved|illicit|investigational|vet_approved |
Tgene | GABRB1 | P18505 | DB00801 | Halazepam | Gamma-aminobutyric acid receptor subunit beta-1 | small molecule | approved|illicit|withdrawn |
Tgene | GABRB1 | P18505 | DB00231 | Temazepam | Gamma-aminobutyric acid receptor subunit beta-1 | small molecule | approved|investigational |
Tgene | GABRB1 | P18505 | DB00897 | Triazolam | Gamma-aminobutyric acid receptor subunit beta-1 | small molecule | approved|investigational |
Tgene | GABRB1 | P18505 | DB00431 | Lindane | Gamma-aminobutyric acid receptor subunit beta-1 | small molecule | approved|withdrawn |
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RelatedDiseases for ZNF430_GABRB1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ZNF430 | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human |
Tgene | GABRB1 | C0001973 | Alcoholic Intoxication, Chronic | 5 | PSYGENET |
Tgene | GABRB1 | C0004352 | Autistic Disorder | 2 | CTD_human |
Tgene | GABRB1 | C0005586 | Bipolar Disorder | 2 | PSYGENET |
Tgene | GABRB1 | C0036341 | Schizophrenia | 2 | PSYGENET |
Tgene | GABRB1 | C0019151 | Hepatic Encephalopathy | 1 | CTD_human |
Tgene | GABRB1 | C0035222 | Respiratory Distress Syndrome, Adult | 1 | CTD_human |
Tgene | GABRB1 | C0270496 | Schizoaffective disorder, bipolar type | 1 | PSYGENET |