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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:GNAS-CUL4A (FusionGDB2 ID:33615)

Fusion Gene Summary for GNAS-CUL4A

check button Fusion gene summary
Fusion gene informationFusion gene name: GNAS-CUL4A
Fusion gene ID: 33615
HgeneTgene
Gene symbol

GNAS

CUL4A

Gene ID

2778

8451

Gene nameGNAS complex locuscullin 4A
SynonymsAHO|C20orf45|GNAS1|GPSA|GSA|GSP|NESP|PITA3|POH|SCG6|SgVI-
Cytomap

20q13.32

13q34

Type of geneprotein-codingprotein-coding
Descriptionprotein ALEXprotein GNASprotein SCG6 (secretogranin VI)G protein subunit alpha Sadenylate cyclase-stimulating G alpha proteinalternative gene product encoded by XL-exonextra large alphas proteinguanine nucleotide binding protein (G protein), alpha cullin-4ACUL-4A
Modification date2020032920200327
UniProtAcc

P63092

Q13619

Ensembl transtripts involved in fusion geneENST00000265620, ENST00000306090, 
ENST00000313949, ENST00000354359, 
ENST00000371075, ENST00000371085, 
ENST00000371095, ENST00000371100, 
ENST00000371102, ENST00000464624, 
ENST00000306120, ENST00000371081, 
ENST00000371098, ENST00000371099, 
ENST00000326335, ENST00000451881, 
ENST00000375440, ENST00000375441, 
ENST00000463426, 
Fusion gene scores* DoF score44 X 25 X 16=1760015 X 13 X 9=1755
# samples 5120
** MAII scorelog2(51/17600*10)=-5.10893437155316
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(20/1755*10)=-3.1333991254172
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GNAS [Title/Abstract] AND CUL4A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointGNAS(57486101)-CUL4A(113918826), # 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
TgeneCUL4A

GO:0016567

protein ubiquitination

26431207


check buttonFusion gene breakpoints across GNAS (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 CUL4A (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/AEC554080GNASchr20

57486101

-CUL4Achr13

113918826

+


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Fusion Gene ORF analysis for GNAS-CUL4A

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
3UTR-3UTRENST00000265620ENST00000326335GNASchr20

57486101

-CUL4Achr13

113918826

+
3UTR-3UTRENST00000265620ENST00000451881GNASchr20

57486101

-CUL4Achr13

113918826

+
3UTR-3UTRENST00000306090ENST00000326335GNASchr20

57486101

-CUL4Achr13

113918826

+
3UTR-3UTRENST00000306090ENST00000451881GNASchr20

57486101

-CUL4Achr13

113918826

+
3UTR-3UTRENST00000313949ENST00000326335GNASchr20

57486101

-CUL4Achr13

113918826

+
3UTR-3UTRENST00000313949ENST00000451881GNASchr20

57486101

-CUL4Achr13

113918826

+
3UTR-3UTRENST00000354359ENST00000326335GNASchr20

57486101

-CUL4Achr13

113918826

+
3UTR-3UTRENST00000354359ENST00000451881GNASchr20

57486101

-CUL4Achr13

113918826

+
3UTR-3UTRENST00000371075ENST00000326335GNASchr20

57486101

-CUL4Achr13

113918826

+
3UTR-3UTRENST00000371075ENST00000451881GNASchr20

57486101

-CUL4Achr13

113918826

+
3UTR-3UTRENST00000371085ENST00000326335GNASchr20

57486101

-CUL4Achr13

113918826

+
3UTR-3UTRENST00000371085ENST00000451881GNASchr20

57486101

-CUL4Achr13

113918826

+
3UTR-3UTRENST00000371095ENST00000326335GNASchr20

57486101

-CUL4Achr13

113918826

+
3UTR-3UTRENST00000371095ENST00000451881GNASchr20

57486101

-CUL4Achr13

113918826

+
3UTR-3UTRENST00000371100ENST00000326335GNASchr20

57486101

-CUL4Achr13

113918826

+
3UTR-3UTRENST00000371100ENST00000451881GNASchr20

57486101

-CUL4Achr13

113918826

+
3UTR-3UTRENST00000371102ENST00000326335GNASchr20

57486101

-CUL4Achr13

113918826

+
3UTR-3UTRENST00000371102ENST00000451881GNASchr20

57486101

-CUL4Achr13

113918826

+
3UTR-3UTRENST00000464624ENST00000326335GNASchr20

57486101

-CUL4Achr13

113918826

+
3UTR-3UTRENST00000464624ENST00000451881GNASchr20

57486101

-CUL4Achr13

113918826

+
3UTR-intronENST00000265620ENST00000375440GNASchr20

57486101

-CUL4Achr13

113918826

+
3UTR-intronENST00000265620ENST00000375441GNASchr20

57486101

-CUL4Achr13

113918826

+
3UTR-intronENST00000265620ENST00000463426GNASchr20

57486101

-CUL4Achr13

113918826

+
3UTR-intronENST00000306090ENST00000375440GNASchr20

57486101

-CUL4Achr13

113918826

+
3UTR-intronENST00000306090ENST00000375441GNASchr20

57486101

-CUL4Achr13

113918826

+
3UTR-intronENST00000306090ENST00000463426GNASchr20

57486101

-CUL4Achr13

113918826

+
3UTR-intronENST00000313949ENST00000375440GNASchr20

57486101

-CUL4Achr13

113918826

+
3UTR-intronENST00000313949ENST00000375441GNASchr20

57486101

-CUL4Achr13

113918826

+
3UTR-intronENST00000313949ENST00000463426GNASchr20

57486101

-CUL4Achr13

113918826

+
3UTR-intronENST00000354359ENST00000375440GNASchr20

57486101

-CUL4Achr13

113918826

+
3UTR-intronENST00000354359ENST00000375441GNASchr20

57486101

-CUL4Achr13

113918826

+
3UTR-intronENST00000354359ENST00000463426GNASchr20

57486101

-CUL4Achr13

113918826

+
3UTR-intronENST00000371075ENST00000375440GNASchr20

57486101

-CUL4Achr13

113918826

+
3UTR-intronENST00000371075ENST00000375441GNASchr20

57486101

-CUL4Achr13

113918826

+
3UTR-intronENST00000371075ENST00000463426GNASchr20

57486101

-CUL4Achr13

113918826

+
3UTR-intronENST00000371085ENST00000375440GNASchr20

57486101

-CUL4Achr13

113918826

+
3UTR-intronENST00000371085ENST00000375441GNASchr20

57486101

-CUL4Achr13

113918826

+
3UTR-intronENST00000371085ENST00000463426GNASchr20

57486101

-CUL4Achr13

113918826

+
3UTR-intronENST00000371095ENST00000375440GNASchr20

57486101

-CUL4Achr13

113918826

+
3UTR-intronENST00000371095ENST00000375441GNASchr20

57486101

-CUL4Achr13

113918826

+
3UTR-intronENST00000371095ENST00000463426GNASchr20

57486101

-CUL4Achr13

113918826

+
3UTR-intronENST00000371100ENST00000375440GNASchr20

57486101

-CUL4Achr13

113918826

+
3UTR-intronENST00000371100ENST00000375441GNASchr20

57486101

-CUL4Achr13

113918826

+
3UTR-intronENST00000371100ENST00000463426GNASchr20

57486101

-CUL4Achr13

113918826

+
3UTR-intronENST00000371102ENST00000375440GNASchr20

57486101

-CUL4Achr13

113918826

+
3UTR-intronENST00000371102ENST00000375441GNASchr20

57486101

-CUL4Achr13

113918826

+
3UTR-intronENST00000371102ENST00000463426GNASchr20

57486101

-CUL4Achr13

113918826

+
3UTR-intronENST00000464624ENST00000375440GNASchr20

57486101

-CUL4Achr13

113918826

+
3UTR-intronENST00000464624ENST00000375441GNASchr20

57486101

-CUL4Achr13

113918826

+
3UTR-intronENST00000464624ENST00000463426GNASchr20

57486101

-CUL4Achr13

113918826

+
intron-3UTRENST00000306120ENST00000326335GNASchr20

57486101

-CUL4Achr13

113918826

+
intron-3UTRENST00000306120ENST00000451881GNASchr20

57486101

-CUL4Achr13

113918826

+
intron-3UTRENST00000371081ENST00000326335GNASchr20

57486101

-CUL4Achr13

113918826

+
intron-3UTRENST00000371081ENST00000451881GNASchr20

57486101

-CUL4Achr13

113918826

+
intron-3UTRENST00000371098ENST00000326335GNASchr20

57486101

-CUL4Achr13

113918826

+
intron-3UTRENST00000371098ENST00000451881GNASchr20

57486101

-CUL4Achr13

113918826

+
intron-3UTRENST00000371099ENST00000326335GNASchr20

57486101

-CUL4Achr13

113918826

+
intron-3UTRENST00000371099ENST00000451881GNASchr20

57486101

-CUL4Achr13

113918826

+
intron-intronENST00000306120ENST00000375440GNASchr20

57486101

-CUL4Achr13

113918826

+
intron-intronENST00000306120ENST00000375441GNASchr20

57486101

-CUL4Achr13

113918826

+
intron-intronENST00000306120ENST00000463426GNASchr20

57486101

-CUL4Achr13

113918826

+
intron-intronENST00000371081ENST00000375440GNASchr20

57486101

-CUL4Achr13

113918826

+
intron-intronENST00000371081ENST00000375441GNASchr20

57486101

-CUL4Achr13

113918826

+
intron-intronENST00000371081ENST00000463426GNASchr20

57486101

-CUL4Achr13

113918826

+
intron-intronENST00000371098ENST00000375440GNASchr20

57486101

-CUL4Achr13

113918826

+
intron-intronENST00000371098ENST00000375441GNASchr20

57486101

-CUL4Achr13

113918826

+
intron-intronENST00000371098ENST00000463426GNASchr20

57486101

-CUL4Achr13

113918826

+
intron-intronENST00000371099ENST00000375440GNASchr20

57486101

-CUL4Achr13

113918826

+
intron-intronENST00000371099ENST00000375441GNASchr20

57486101

-CUL4Achr13

113918826

+
intron-intronENST00000371099ENST00000463426GNASchr20

57486101

-CUL4Achr13

113918826

+

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 GNAS-CUL4A


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 GNAS-CUL4A


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/:57486101/:113918826)
- 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
GNAS

P63092

CUL4A

Q13619

FUNCTION: Guanine nucleotide-binding proteins (G proteins) function as transducers in numerous signaling pathways controlled by G protein-coupled receptors (GPCRs) (PubMed:17110384). Signaling involves the activation of adenylyl cyclases, resulting in increased levels of the signaling molecule cAMP (PubMed:26206488, PubMed:8702665). GNAS functions downstream of several GPCRs, including beta-adrenergic receptors (PubMed:21488135). Stimulates the Ras signaling pathway via RAPGEF2 (PubMed:12391161). {ECO:0000269|PubMed:12391161, ECO:0000269|PubMed:17110384, ECO:0000269|PubMed:21488135, ECO:0000269|PubMed:26206488, ECO:0000269|PubMed:8702665}.FUNCTION: Core component of multiple cullin-RING-based E3 ubiquitin-protein ligase complexes which mediate the ubiquitination of target proteins. As a scaffold protein may contribute to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme. The E3 ubiquitin-protein ligase activity of the complex is dependent on the neddylation of the cullin subunit and is inhibited by the association of the deneddylated cullin subunit with TIP120A/CAND1. The functional specificity of the E3 ubiquitin-protein ligase complex depends on the variable substrate recognition component. DCX(DET1-COP1) directs ubiquitination of JUN. DCX(DDB2) directs ubiquitination of XPC. DCX(DDB2) ubiquitinates histones H3-H4 and is required for efficient histone deposition during replication-coupled (H3.1) and replication-independent (H3.3) nucleosome assembly, probably by facilitating the transfer of H3 from ASF1A/ASF1B to other chaperones involved in histone deposition. DCX(DTL) plays a role in PCNA-dependent polyubiquitination of CDT1 and MDM2-dependent ubiquitination of TP53 in response to radiation-induced DNA damage and during DNA replication. In association with DDB1 and SKP2 probably is involved in ubiquitination of CDKN1B/p27kip. Is involved in ubiquitination of HOXA9. DCX(DTL) directs autoubiquitination of DTL. The DDB1-CUL4A-DTL E3 ligase complex regulates the circadian clock function by mediating the ubiquitination and degradation of CRY1 (PubMed:26431207). With CUL4B, contributes to ribosome biogenesis (PubMed:26711351). {ECO:0000269|PubMed:14578910, ECO:0000269|PubMed:14609952, ECO:0000269|PubMed:15448697, ECO:0000269|PubMed:15548678, ECO:0000269|PubMed:16537899, ECO:0000269|PubMed:16678110, ECO:0000269|PubMed:23478445, ECO:0000269|PubMed:24209620, ECO:0000269|PubMed:26431207, ECO:0000269|PubMed:26711351}.

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 GNAS-CUL4A


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 GNAS-CUL4A


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 GNAS-CUL4A


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 GNAS-CUL4A


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