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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:GNB5-RGS1 (FusionGDB2 ID:33603)

Fusion Gene Summary for GNB5-RGS1

check button Fusion gene summary
Fusion gene informationFusion gene name: GNB5-RGS1
Fusion gene ID: 33603
HgeneTgene
Gene symbol

GNB5

RGS1

Gene ID

10681

5996

Gene nameG protein subunit beta 5regulator of G protein signaling 1
SynonymsGB5|IDDCA|LADCI1R20|BL34|HEL-S-87|IER1|IR20
Cytomap

15q21.2

1q31.2

Type of geneprotein-codingprotein-coding
Descriptionguanine nucleotide-binding protein subunit beta-5G protein, beta subunit 5Lgbeta5guanine nucleotide binding protein (G protein), beta 5guanine nucleotide-binding protein, beta subunit 5Ltransducin beta chain 5regulator of G-protein signaling 1B-cell activation protein BL34early response protein 1R20epididymis secretory protein Li 87immediate-early response 1, B-cell specificregulator of G-protein signalling 1
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000261837, ENST00000396335, 
ENST00000358784, ENST00000559348, 
ENST00000560116, 
ENST00000367459, 
ENST00000469578, 
Fusion gene scores* DoF score7 X 7 X 4=1961 X 1 X 1=1
# samples 71
** MAII scorelog2(7/196*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: GNB5 [Title/Abstract] AND RGS1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointGNB5(52420431)-RGS1(192544937), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneGNB5

GO:0007212

dopamine receptor signaling pathway

27677260

HgeneGNB5

GO:0043547

positive regulation of GTPase activity

10521509

HgeneGNB5

GO:1901386

negative regulation of voltage-gated calcium channel activity

11007869|12606627

TgeneRGS1

GO:0007165

signal transduction

10480894

TgeneRGS1

GO:0007186

G protein-coupled receptor signaling pathway

10480894

TgeneRGS1

GO:0043547

positive regulation of GTPase activity

10480894|18434541

TgeneRGS1

GO:0061737

leukotriene signaling pathway

10480894


check buttonFusion gene breakpoints across GNB5 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across RGS1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS5.0N/AS59049GNB5chr15

52420431

+RGS1chr1

192544937

+


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Fusion Gene ORF analysis for GNB5-RGS1

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-3CDSENST00000261837ENST00000367459GNB5chr15

52420431

+RGS1chr1

192544937

+
intron-3CDSENST00000261837ENST00000469578GNB5chr15

52420431

+RGS1chr1

192544937

+
intron-3CDSENST00000396335ENST00000367459GNB5chr15

52420431

+RGS1chr1

192544937

+
intron-3CDSENST00000396335ENST00000469578GNB5chr15

52420431

+RGS1chr1

192544937

+
intron-3CDSENST00000358784ENST00000367459GNB5chr15

52420431

+RGS1chr1

192544937

+
intron-3CDSENST00000358784ENST00000469578GNB5chr15

52420431

+RGS1chr1

192544937

+
intron-3CDSENST00000559348ENST00000367459GNB5chr15

52420431

+RGS1chr1

192544937

+
intron-3CDSENST00000559348ENST00000469578GNB5chr15

52420431

+RGS1chr1

192544937

+
intron-3CDSENST00000560116ENST00000367459GNB5chr15

52420431

+RGS1chr1

192544937

+
intron-3CDSENST00000560116ENST00000469578GNB5chr15

52420431

+RGS1chr1

192544937

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for GNB5-RGS1


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for GNB5-RGS1


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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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Fusion Gene Sequence for GNB5-RGS1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for GNB5-RGS1


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


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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Related Drugs for GNB5-RGS1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for GNB5-RGS1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGNB5C4310678LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA3CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneGNB5C4310682INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA3CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneGNB5C0009402Colorectal Carcinoma1CTD_human
HgeneGNB5C0009404Colorectal Neoplasms1CTD_human
TgeneRGS1C0011581Depressive disorder1PSYGENET
TgeneRGS1C0029463Osteosarcoma1CTD_human
TgeneRGS1C0037274Dermatologic disorders1CTD_human
TgeneRGS1C0162820Dermatitis, Allergic Contact1CTD_human
TgeneRGS1C0274861Arsenic Poisoning, Inorganic1CTD_human
TgeneRGS1C0274862Nervous System, Organic Arsenic Poisoning1CTD_human
TgeneRGS1C0311375Arsenic Poisoning1CTD_human
TgeneRGS1C0751851Arsenic Encephalopathy1CTD_human
TgeneRGS1C0751852Arsenic Induced Polyneuropathy1CTD_human