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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 7952

FusionGeneSummary for COL4A1_GABBR2

check button Fusion gene summary
Fusion gene informationFusion gene name: COL4A1_GABBR2
Fusion gene ID: 7952
HgeneTgene
Gene symbol

COL4A1

GABBR2

Gene ID

1282

9568

Gene namecollagen type IV alpha 1 chaingamma-aminobutyric acid type B receptor subunit 2
SynonymsBSVD|RATOREIEE59|GABABR2|GPR51|GPRC3B|HG20|HRIHFB2099|NDPLHS
Cytomap

13q34

9q22.33

Type of geneprotein-codingprotein-coding
Descriptioncollagen alpha-1(IV) chainCOL4A1 NC1 domainarrestencollagen IV, alpha-1 polypeptidecollagen of basement membrane, alpha-1 chaingamma-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 date2018052720180519
UniProtAcc

P02462

O75899

Ensembl transtripts involved in fusion geneENST00000375820, ENST00000543140, 
ENST00000467182, 
ENST00000259455, 
ENST00000477471, 
Fusion gene scores* DoF score7 X 9 X 5=3154 X 4 X 4=64
# samples 94
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneGABBR2

GO:0007214

gamma-aminobutyric acid signaling pathway

9872316


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDSARCTCGA-3B-A9HV-01ACOL4A1chr13

110839551

-GABBR2chr9

101072066

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-intronENST00000375820ENST00000259455COL4A1chr13

110839551

-GABBR2chr9

101072066

-
intron-intronENST00000375820ENST00000477471COL4A1chr13

110839551

-GABBR2chr9

101072066

-
intron-intronENST00000543140ENST00000259455COL4A1chr13

110839551

-GABBR2chr9

101072066

-
intron-intronENST00000543140ENST00000477471COL4A1chr13

110839551

-GABBR2chr9

101072066

-
intron-intronENST00000467182ENST00000259455COL4A1chr13

110839551

-GABBR2chr9

101072066

-
intron-intronENST00000467182ENST00000477471COL4A1chr13

110839551

-GABBR2chr9

101072066

-

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FusionProtFeatures for COL4A1_GABBR2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
COL4A1

P02462

GABBR2

O75899

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}.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for COL4A1_GABBR2


check button 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


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
COL4A1DISC1, NID1, NID2, COL4A2, COL4A1, THBS1, COL7A1, MAG, VHL, PDGFA, PDGFB, ACHE, KIFAP3, PLOD1, COLGALT2, MMP9, MMP2, TINAGGABBR2SH3GL3, GABBR1, ATF4, GLP1R, KCTD12, AKT1, DDIT3


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for COL4A1_GABBR2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneGABBR2O75899DB00181BaclofenGamma-aminobutyric acid type B receptor subunit 2small moleculeapproved
TgeneGABBR2O75899DB00996GabapentinGamma-aminobutyric acid type B receptor subunit 2small moleculeapproved|investigational

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RelatedDiseases for COL4A1_GABBR2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCOL4A1C4013035BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES8ORPHANET;UNIPROT
HgeneCOL4A1C1867983PORENCEPHALY, FAMILIAL3ORPHANET;UNIPROT
HgeneCOL4A1C2673195Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps3CTD_human;ORPHANET;UNIPROT
HgeneCOL4A1C0017668Focal glomerulosclerosis2CTD_human
HgeneCOL4A1C0011881Diabetic Nephropathy1CTD_human
HgeneCOL4A1C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneCOL4A1C0027726Nephrotic Syndrome1CTD_human
HgeneCOL4A1C0266484Schizencephaly1HPO;ORPHANET;UNIPROT
HgeneCOL4A1C3281105HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO1UNIPROT
TgeneGABBR2C0004352Autistic Disorder1CTD_human
TgeneGABBR2C0041696Unipolar Depression1PSYGENET
TgeneGABBR2C1269683Major Depressive Disorder1PSYGENET