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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: 5807

FusionGeneSummary for CCDC149_GABRB1

check button Fusion gene summary
Fusion gene informationFusion gene name: CCDC149_GABRB1
Fusion gene ID: 5807
HgeneTgene
Gene symbol

CCDC149

GABRB1

Gene ID

91050

2560

Gene namecoiled-coil domain containing 149gamma-aminobutyric acid type A receptor beta1 subunit
Synonyms-EIEE45
Cytomap

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 1
Modification date2018051920180523
UniProtAcc

Q6ZUS6

P18505

Ensembl transtripts involved in fusion geneENST00000504487, ENST00000428116, 
ENST00000389609, ENST00000502801, 
ENST00000508236, 		ENST00000295454, 
ENST00000538619, ENST00000509366, 
Fusion gene scores* DoF score5 X 5 X 4=1005 X 2 X 4=40
# samples 55
** MAII scorelog2(5/100*10)=-1
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]

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
TgeneGABRB1

GO:1902476

chloride transmembrane transport

9039914


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
TCGARVBRCATCGA-S3-A6ZF-01ACCDC149chr4

24914439

-GABRB1chr4

47033931

+
* 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
Frame-shiftENST00000504487ENST00000295454CCDC149chr4

24914439

-GABRB1chr4

47033931

+
5CDS-5UTRENST00000504487ENST00000538619CCDC149chr4

24914439

-GABRB1chr4

47033931

+
5CDS-3UTRENST00000504487ENST00000509366CCDC149chr4

24914439

-GABRB1chr4

47033931

+
5UTR-3CDSENST00000428116ENST00000295454CCDC149chr4

24914439

-GABRB1chr4

47033931

+
5UTR-5UTRENST00000428116ENST00000538619CCDC149chr4

24914439

-GABRB1chr4

47033931

+
5UTR-3UTRENST00000428116ENST00000509366CCDC149chr4

24914439

-GABRB1chr4

47033931

+
intron-3CDSENST00000389609ENST00000295454CCDC149chr4

24914439

-GABRB1chr4

47033931

+
intron-5UTRENST00000389609ENST00000538619CCDC149chr4

24914439

-GABRB1chr4

47033931

+
intron-3UTRENST00000389609ENST00000509366CCDC149chr4

24914439

-GABRB1chr4

47033931

+
Frame-shiftENST00000502801ENST00000295454CCDC149chr4

24914439

-GABRB1chr4

47033931

+
5CDS-5UTRENST00000502801ENST00000538619CCDC149chr4

24914439

-GABRB1chr4

47033931

+
5CDS-3UTRENST00000502801ENST00000509366CCDC149chr4

24914439

-GABRB1chr4

47033931

+
intron-3CDSENST00000508236ENST00000295454CCDC149chr4

24914439

-GABRB1chr4

47033931

+
intron-5UTRENST00000508236ENST00000538619CCDC149chr4

24914439

-GABRB1chr4

47033931

+
intron-3UTRENST00000508236ENST00000509366CCDC149chr4

24914439

-GABRB1chr4

47033931

+

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FusionProtFeatures for CCDC149_GABRB1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CCDC149

Q6ZUS6

GABRB1

P18505

Component of the heteropentameric receptor for GABA, themajor inhibitory neurotransmitter in the vertebrate brain.Functions also as histamine receptor and mediates cellularresponses to histamine. Functions as receptor for diazepines andvarious anesthetics, such as pentobarbital; these are bound at aseparate 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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FusionGeneSequence for CCDC149_GABRB1


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 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
CCDC149PRNP, APPGABRB1UBQLN1, CUL1, NOD1, NEUROD4, HSPA8


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 CCDC149_GABRB1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneGABRB1P18505DB00546AdinazolamGamma-aminobutyric acid receptor subunit beta-1small moleculeapproved
TgeneGABRB1P18505DB00842OxazepamGamma-aminobutyric acid receptor subunit beta-1small moleculeapproved
TgeneGABRB1P18505DB00898EthanolGamma-aminobutyric acid receptor subunit beta-1small moleculeapproved
TgeneGABRB1P18505DB01587KetazolamGamma-aminobutyric acid receptor subunit beta-1small moleculeapproved
TgeneGABRB1P18505DB01594CinolazepamGamma-aminobutyric acid receptor subunit beta-1small moleculeapproved
TgeneGABRB1P18505DB01595NitrazepamGamma-aminobutyric acid receptor subunit beta-1small moleculeapproved
TgeneGABRB1P18505DB00683MidazolamGamma-aminobutyric acid receptor subunit beta-1small moleculeapproved|illicit
TgeneGABRB1P18505DB01215EstazolamGamma-aminobutyric acid receptor subunit beta-1small moleculeapproved|illicit
TgeneGABRB1P18505DB01559ClotiazepamGamma-aminobutyric acid receptor subunit beta-1small moleculeapproved|illicit
TgeneGABRB1P18505DB01567FludiazepamGamma-aminobutyric acid receptor subunit beta-1small moleculeapproved|illicit
TgeneGABRB1P18505DB01588PrazepamGamma-aminobutyric acid receptor subunit beta-1small moleculeapproved|illicit
TgeneGABRB1P18505DB01589QuazepamGamma-aminobutyric acid receptor subunit beta-1small moleculeapproved|illicit
TgeneGABRB1P18505DB00690FlurazepamGamma-aminobutyric acid receptor subunit beta-1small moleculeapproved|illicit|investigational
TgeneGABRB1P18505DB01558BromazepamGamma-aminobutyric acid receptor subunit beta-1small moleculeapproved|illicit|investigational
TgeneGABRB1P18505DB00829DiazepamGamma-aminobutyric acid receptor subunit beta-1small moleculeapproved|illicit|investigational|vet_approved
TgeneGABRB1P18505DB00801HalazepamGamma-aminobutyric acid receptor subunit beta-1small moleculeapproved|illicit|withdrawn
TgeneGABRB1P18505DB00231TemazepamGamma-aminobutyric acid receptor subunit beta-1small moleculeapproved|investigational
TgeneGABRB1P18505DB00897TriazolamGamma-aminobutyric acid receptor subunit beta-1small moleculeapproved|investigational
TgeneGABRB1P18505DB00431LindaneGamma-aminobutyric acid receptor subunit beta-1small moleculeapproved|withdrawn

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RelatedDiseases for CCDC149_GABRB1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneGABRB1C0001973Alcoholic Intoxication, Chronic5PSYGENET
TgeneGABRB1C0004352Autistic Disorder2CTD_human
TgeneGABRB1C0005586Bipolar Disorder2PSYGENET
TgeneGABRB1C0036341Schizophrenia2PSYGENET
TgeneGABRB1C0019151Hepatic Encephalopathy1CTD_human
TgeneGABRB1C0035222Respiratory Distress Syndrome, Adult1CTD_human
TgeneGABRB1C0270496Schizoaffective disorder, bipolar type1PSYGENET