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Fusion gene ID: 7952 |
FusionGeneSummary for COL4A1_GABBR2 |
 Fusion gene summary |
| 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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Tgene | GABBR2 | GO:0007214 | gamma-aminobutyric acid signaling pathway | 9872316 |
| Fusion gene information from three resources (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 |
| Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * 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 |
| Main function of each fusion partner protein. (from UniProt) |
| 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}. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * 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 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (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 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| 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 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for COL4A1_GABBR2 |
| Drugs targeting genes involved in this fusion gene. (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 |
| Diseases associated with fusion partners. (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 |
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