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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:MLC1-GNB5 (FusionGDB2 ID:54140)

Fusion Gene Summary for MLC1-GNB5

check button Fusion gene summary
Fusion gene informationFusion gene name: MLC1-GNB5
Fusion gene ID: 54140
HgeneTgene
Gene symbol

MLC1

GNB5

Gene ID

23209

10681

Gene namemodulator of VRAC current 1G protein subunit beta 5
SynonymsLVM|MLC|VLGB5|IDDCA|LADCI
Cytomap

22q13.33

15q21.2

Type of geneprotein-codingprotein-coding
Descriptionmembrane protein MLC1megalencephalic leukoencephalopathy with subcortical cysts 1guanine 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 5
Modification date2020031320200313
UniProtAcc

Q15049

O14775

Ensembl transtripts involved in fusion geneENST00000311597, ENST00000395876, 
ENST00000431262, ENST00000450140, 
ENST00000483836, ENST00000535444, 
ENST00000538737, 		ENST00000261837, 
ENST00000358784, ENST00000396335, 
ENST00000559348, ENST00000560116, 
Fusion gene scores* DoF score6 X 5 X 1=305 X 4 X 3=60
# samples 65
** MAII scorelog2(6/30*10)=1
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MLC1 [Title/Abstract] AND GNB5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMLC1(50511991)-GNB5(52421321), # 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
HgeneMLC1

GO:0032388

positive regulation of intracellular transport

19931615

TgeneGNB5

GO:0007212

dopamine receptor signaling pathway

27677260

TgeneGNB5

GO:0043547

positive regulation of GTPase activity

10521509

TgeneGNB5

GO:1901386

negative regulation of voltage-gated calcium channel activity

11007869|12606627


check buttonFusion gene breakpoints across MLC1 (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 GNB5 (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/AEC503613MLC1chr22

50511991

-GNB5chr15

52421321

+


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Fusion Gene ORF analysis for MLC1-GNB5

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-intronENST00000311597ENST00000261837MLC1chr22

50511991

-GNB5chr15

52421321

+
intron-intronENST00000311597ENST00000358784MLC1chr22

50511991

-GNB5chr15

52421321

+
intron-intronENST00000311597ENST00000396335MLC1chr22

50511991

-GNB5chr15

52421321

+
intron-intronENST00000311597ENST00000559348MLC1chr22

50511991

-GNB5chr15

52421321

+
intron-intronENST00000311597ENST00000560116MLC1chr22

50511991

-GNB5chr15

52421321

+
intron-intronENST00000395876ENST00000261837MLC1chr22

50511991

-GNB5chr15

52421321

+
intron-intronENST00000395876ENST00000358784MLC1chr22

50511991

-GNB5chr15

52421321

+
intron-intronENST00000395876ENST00000396335MLC1chr22

50511991

-GNB5chr15

52421321

+
intron-intronENST00000395876ENST00000559348MLC1chr22

50511991

-GNB5chr15

52421321

+
intron-intronENST00000395876ENST00000560116MLC1chr22

50511991

-GNB5chr15

52421321

+
intron-intronENST00000431262ENST00000261837MLC1chr22

50511991

-GNB5chr15

52421321

+
intron-intronENST00000431262ENST00000358784MLC1chr22

50511991

-GNB5chr15

52421321

+
intron-intronENST00000431262ENST00000396335MLC1chr22

50511991

-GNB5chr15

52421321

+
intron-intronENST00000431262ENST00000559348MLC1chr22

50511991

-GNB5chr15

52421321

+
intron-intronENST00000431262ENST00000560116MLC1chr22

50511991

-GNB5chr15

52421321

+
intron-intronENST00000450140ENST00000261837MLC1chr22

50511991

-GNB5chr15

52421321

+
intron-intronENST00000450140ENST00000358784MLC1chr22

50511991

-GNB5chr15

52421321

+
intron-intronENST00000450140ENST00000396335MLC1chr22

50511991

-GNB5chr15

52421321

+
intron-intronENST00000450140ENST00000559348MLC1chr22

50511991

-GNB5chr15

52421321

+
intron-intronENST00000450140ENST00000560116MLC1chr22

50511991

-GNB5chr15

52421321

+
intron-intronENST00000483836ENST00000261837MLC1chr22

50511991

-GNB5chr15

52421321

+
intron-intronENST00000483836ENST00000358784MLC1chr22

50511991

-GNB5chr15

52421321

+
intron-intronENST00000483836ENST00000396335MLC1chr22

50511991

-GNB5chr15

52421321

+
intron-intronENST00000483836ENST00000559348MLC1chr22

50511991

-GNB5chr15

52421321

+
intron-intronENST00000483836ENST00000560116MLC1chr22

50511991

-GNB5chr15

52421321

+
intron-intronENST00000535444ENST00000261837MLC1chr22

50511991

-GNB5chr15

52421321

+
intron-intronENST00000535444ENST00000358784MLC1chr22

50511991

-GNB5chr15

52421321

+
intron-intronENST00000535444ENST00000396335MLC1chr22

50511991

-GNB5chr15

52421321

+
intron-intronENST00000535444ENST00000559348MLC1chr22

50511991

-GNB5chr15

52421321

+
intron-intronENST00000535444ENST00000560116MLC1chr22

50511991

-GNB5chr15

52421321

+
intron-intronENST00000538737ENST00000261837MLC1chr22

50511991

-GNB5chr15

52421321

+
intron-intronENST00000538737ENST00000358784MLC1chr22

50511991

-GNB5chr15

52421321

+
intron-intronENST00000538737ENST00000396335MLC1chr22

50511991

-GNB5chr15

52421321

+
intron-intronENST00000538737ENST00000559348MLC1chr22

50511991

-GNB5chr15

52421321

+
intron-intronENST00000538737ENST00000560116MLC1chr22

50511991

-GNB5chr15

52421321

+

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 MLC1-GNB5


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 MLC1-GNB5


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:50511991/:52421321)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MLC1

Q15049

GNB5

O14775

FUNCTION: Regulates the response of astrocytes to hypo-osmosis by promoting calcium influx. {ECO:0000269|PubMed:22328087}.FUNCTION: Enhances GTPase-activating protein (GAP) activity of regulator of G protein signaling (RGS) proteins, hence involved in the termination of the signaling initiated by the G protein coupled receptors (GPCRs) by accelerating the GTP hydrolysis on the G-alpha subunits, thereby promoting their inactivation (Probable). Increases RGS9 GTPase-activating protein (GAP) activity, hence contributes to the deactivation of G protein signaling initiated by D(2) dopamine receptors (PubMed:27677260). May play an important role in neuronal signaling, including in the parasympathetic, but not sympathetic, control of heart rate (By similarity). {ECO:0000250|UniProtKB:A1L271, ECO:0000269|PubMed:27677260, 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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Fusion Gene Sequence for MLC1-GNB5


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 MLC1-GNB5


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 MLC1-GNB5


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 MLC1-GNB5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource