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Fusion gene ID: 7952 |
FusionGeneSummary for COL4A1_GABBR2 |
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Fusion gene information | Fusion gene name: COL4A1_GABBR2 | Fusion gene ID: 7952 | Hgene | Tgene | Gene symbol | COL4A1 | GABBR2 | Gene ID | 1282 | 9568 |
Gene name | collagen type IV alpha 1 chain | gamma-aminobutyric acid type B receptor subunit 2 | |
Synonyms | BSVD|RATOR | EIEE59|GABABR2|GPR51|GPRC3B|HG20|HRIHFB2099|NDPLHS | |
Cytomap | 13q34 | 9q22.33 | |
Type of gene | protein-coding | protein-coding | |
Description | collagen alpha-1(IV) chainCOL4A1 NC1 domainarrestencollagen IV, alpha-1 polypeptidecollagen of basement membrane, alpha-1 chain | gamma-aminobutyric acid type B receptor subunit 2G-protein coupled receptor 51GABA-B receptor 2GABA-B receptor, R2 subunitGABA-B-R2GABA-BR2gamma-aminobutyric acid (GABA) B receptor, 2gamma-aminobutyric acid B receptor 2gb2 | |
Modification date | 20180527 | 20180519 | |
UniProtAcc | P02462 | O75899 | |
Ensembl transtripts involved in fusion gene | ENST00000375820, ENST00000543140, ENST00000467182, | ENST00000259455, ENST00000477471, | |
Fusion gene scores | * DoF score | 7 X 9 X 5=315 | 4 X 4 X 4=64 |
# samples | 9 | 4 | |
** MAII score | log2(9/315*10)=-1.8073549220576 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/64*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: COL4A1 [Title/Abstract] AND GABBR2 [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 | GABBR2 | GO:0007214 | gamma-aminobutyric acid signaling pathway | 9872316 |
![]() (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 | LD | SARC | TCGA-3B-A9HV-01A | COL4A1 | chr13 | 110839551 | - | GABBR2 | chr9 | 101072066 | - |
* 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-intron | ENST00000375820 | ENST00000259455 | COL4A1 | chr13 | 110839551 | - | GABBR2 | chr9 | 101072066 | - |
intron-intron | ENST00000375820 | ENST00000477471 | COL4A1 | chr13 | 110839551 | - | GABBR2 | chr9 | 101072066 | - |
intron-intron | ENST00000543140 | ENST00000259455 | COL4A1 | chr13 | 110839551 | - | GABBR2 | chr9 | 101072066 | - |
intron-intron | ENST00000543140 | ENST00000477471 | COL4A1 | chr13 | 110839551 | - | GABBR2 | chr9 | 101072066 | - |
intron-intron | ENST00000467182 | ENST00000259455 | COL4A1 | chr13 | 110839551 | - | GABBR2 | chr9 | 101072066 | - |
intron-intron | ENST00000467182 | ENST00000477471 | COL4A1 | chr13 | 110839551 | - | GABBR2 | chr9 | 101072066 | - |
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FusionProtFeatures for COL4A1_GABBR2 |
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Hgene | Tgene |
COL4A1 | GABBR2 |
Component of a heterodimeric G-protein coupled receptorfor GABA, formed by GABBR1 and GABBR2 (PubMed:9872316,PubMed:9872744, PubMed:15617512, PubMed:18165688, PubMed:22660477,PubMed:24305054). Within the heterodimeric GABA receptor, onlyGABBR1 seems to bind agonists, while GABBR2 mediates coupling to Gproteins (PubMed:18165688). Ligand binding causes a conformationchange that triggers signaling via guanine nucleotide-bindingproteins (G proteins) and modulates the activity of down-streameffectors, such as adenylate cyclase (PubMed:10075644,PubMed:10773016, PubMed:24305054). Signaling inhibits adenylatecyclase, stimulates phospholipase A2, activates potassiumchannels, inactivates voltage-dependent calcium-channels andmodulates inositol phospholipid hydrolysis (PubMed:10075644,PubMed:9872744, PubMed:10906333, PubMed:10773016). Plays acritical role in the fine-tuning of inhibitory synaptictransmission (PubMed:9872744, PubMed:22660477). Pre-synaptic GABAreceptor inhibits neurotransmitter release by down-regulatinghigh-voltage activated calcium channels, whereas postsynaptic GABAreceptor decreases neuronal excitability by activating a prominentinwardly rectifying potassium (Kir) conductance that underlies thelate inhibitory postsynaptic potentials (PubMed:9872316,PubMed:10075644, PubMed:9872744, PubMed:22660477). Not onlyimplicated in synaptic inhibition but also in hippocampal long-term potentiation, slow wave sleep, muscle relaxation andantinociception (Probable). {ECO:0000269|PubMed:10075644,ECO:0000269|PubMed:10328880, ECO:0000269|PubMed:15617512,ECO:0000269|PubMed:18165688, ECO:0000269|PubMed:22660477,ECO:0000269|PubMed:24305054, ECO:0000269|PubMed:9872316,ECO:0000269|PubMed:9872744, ECO:0000305}. |
![]() * 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 COL4A1_GABBR2 |
![]() (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 COL4A1_GABBR2 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
COL4A1 | DISC1, NID1, NID2, COL4A2, COL4A1, THBS1, COL7A1, MAG, VHL, PDGFA, PDGFB, ACHE, KIFAP3, PLOD1, COLGALT2, MMP9, MMP2, TINAG | GABBR2 | SH3GL3, GABBR1, ATF4, GLP1R, KCTD12, AKT1, DDIT3 |
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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 COL4A1_GABBR2 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | GABBR2 | O75899 | DB00181 | Baclofen | Gamma-aminobutyric acid type B receptor subunit 2 | small molecule | approved |
Tgene | GABBR2 | O75899 | DB00996 | Gabapentin | Gamma-aminobutyric acid type B receptor subunit 2 | small molecule | approved|investigational |
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RelatedDiseases for COL4A1_GABBR2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | COL4A1 | C4013035 | BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES | 8 | ORPHANET;UNIPROT |
Hgene | COL4A1 | C1867983 | PORENCEPHALY, FAMILIAL | 3 | ORPHANET;UNIPROT |
Hgene | COL4A1 | C2673195 | Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps | 3 | CTD_human;ORPHANET;UNIPROT |
Hgene | COL4A1 | C0017668 | Focal glomerulosclerosis | 2 | CTD_human |
Hgene | COL4A1 | C0011881 | Diabetic Nephropathy | 1 | CTD_human |
Hgene | COL4A1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Hgene | COL4A1 | C0027726 | Nephrotic Syndrome | 1 | CTD_human |
Hgene | COL4A1 | C0266484 | Schizencephaly | 1 | HPO;ORPHANET;UNIPROT |
Hgene | COL4A1 | C3281105 | HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO | 1 | UNIPROT |
Tgene | GABBR2 | C0004352 | Autistic Disorder | 1 | CTD_human |
Tgene | GABBR2 | C0041696 | Unipolar Depression | 1 | PSYGENET |
Tgene | GABBR2 | C1269683 | Major Depressive Disorder | 1 | PSYGENET |