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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:CCDC149-GABRB1 (FusionGDB2 ID:HG91050TG2560)

Fusion Gene Summary for CCDC149-GABRB1

check button Fusion gene summary
Fusion gene informationFusion gene name: CCDC149-GABRB1
Fusion gene ID: hg91050tg2560
HgeneTgene
Gene symbol

CCDC149

GABRB1

Gene ID

91050

2560

Gene namecoiled-coil domain containing 149gamma-aminobutyric acid type A receptor subunit beta1
Synonyms-EIEE45
Cytomap('CCDC149')('GABRB1')

4p15.2

4p12

Type of geneprotein-codingprotein-coding
Descriptioncoiled-coil domain-containing protein 149gamma-aminobutyric acid receptor subunit beta-1gamma-aminobutyric acid (GABA) A receptor, beta 1gamma-aminobutyric acid type A receptor beta1 subunit
Modification date2020031320200313
UniProtAcc

Q6ZUS6

P18505

Ensembl transtripts involved in fusion geneENST00000502801, ENST00000504487, 
ENST00000428116, ENST00000389609, 
ENST00000508236, 
Fusion gene scores* DoF score6 X 6 X 5=1805 X 2 X 4=40
# samples 75
** MAII scorelog2(7/180*10)=-1.36257007938471
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/40*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CCDC149 [Title/Abstract] AND GABRB1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCCDC149(24914439)-GABRB1(47033931), # samples:3
Anticipated loss of major functional domain due to fusion event.CCDC149-GABRB1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
CCDC149-GABRB1 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
* 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
TgeneGABRB1

GO:1902476

chloride transmembrane transport

9039914



check button Fusion gene information
* 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
ChimerDB4BRCATCGA-S3-A6ZF-01ACCDC149chr4

24914439

-GABRB1chr4

47033931

+


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Fusion Gene ORF analysis for CCDC149-GABRB1

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
5CDS-3UTRENST00000502801ENST00000509366CCDC149chr4

24914439

-GABRB1chr4

47033931

+
5CDS-3UTRENST00000504487ENST00000509366CCDC149chr4

24914439

-GABRB1chr4

47033931

+
5CDS-5UTRENST00000502801ENST00000538619CCDC149chr4

24914439

-GABRB1chr4

47033931

+
5CDS-5UTRENST00000504487ENST00000538619CCDC149chr4

24914439

-GABRB1chr4

47033931

+
5UTR-3CDSENST00000428116ENST00000295454CCDC149chr4

24914439

-GABRB1chr4

47033931

+
5UTR-3UTRENST00000428116ENST00000509366CCDC149chr4

24914439

-GABRB1chr4

47033931

+
5UTR-5UTRENST00000428116ENST00000538619CCDC149chr4

24914439

-GABRB1chr4

47033931

+
Frame-shiftENST00000502801ENST00000295454CCDC149chr4

24914439

-GABRB1chr4

47033931

+
Frame-shiftENST00000504487ENST00000295454CCDC149chr4

24914439

-GABRB1chr4

47033931

+
intron-3CDSENST00000389609ENST00000295454CCDC149chr4

24914439

-GABRB1chr4

47033931

+
intron-3CDSENST00000508236ENST00000295454CCDC149chr4

24914439

-GABRB1chr4

47033931

+
intron-3UTRENST00000389609ENST00000509366CCDC149chr4

24914439

-GABRB1chr4

47033931

+
intron-3UTRENST00000508236ENST00000509366CCDC149chr4

24914439

-GABRB1chr4

47033931

+
intron-5UTRENST00000389609ENST00000538619CCDC149chr4

24914439

-GABRB1chr4

47033931

+
intron-5UTRENST00000508236ENST00000538619CCDC149chr4

24914439

-GABRB1chr4

47033931

+

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 CCDC149-GABRB1


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)
CCDC149chr424914438-GABRB1chr447033930+7.09E-091
CCDC149chr424914438-GABRB1chr447033930+7.09E-091


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.
genomic feature of top 1%

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Fusion Protein Features for CCDC149-GABRB1


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/:24914439/:47033931)
- 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
CCDC149

Q6ZUS6

GABRB1

P18505

FUNCTION: Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand-gated chloride channel. {ECO:0000269|PubMed:26950270}.

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 CCDC149-GABRB1


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 CCDC149-GABRB1


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 CCDC149-GABRB1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneGABRB1P18505DB00898EthanolSmall moleculeApproved
TgeneGABRB1P18505DB01440gamma-Hydroxybutyric acidAgonistSmall moleculeApproved|Illicit|Investigational
TgeneGABRB1P18505DB00431LindaneAntagonistSmall moleculeApproved|Withdrawn

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Related Diseases for CCDC149-GABRB1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0001973Alcoholic Intoxication, Chronic5PSYGENET
TgeneC4310691EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 453CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0004352Autistic Disorder2CTD_human
TgeneC0005586Bipolar Disorder2PSYGENET
TgeneC0036341Schizophrenia2PSYGENET
TgeneC0019147Hepatic Coma1CTD_human
TgeneC0019151Hepatic Encephalopathy1CTD_human
TgeneC0035222Respiratory Distress Syndrome, Adult1CTD_human
TgeneC0270496Schizoaffective disorder, bipolar type1PSYGENET
TgeneC0751197Fulminant Hepatic Failure with Cerebral Edema1CTD_human
TgeneC0751198Hepatic Stupor1CTD_human