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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: 13332

FusionGeneSummary for FGB_GNAS

check button Fusion gene summary
Fusion gene informationFusion gene name: FGB_GNAS
Fusion gene ID: 13332
HgeneTgene
Gene symbol

FGB

GNAS

Gene ID

2244

2778

Gene namefibrinogen beta chainGNAS complex locus
SynonymsHEL-S-78pAHO|C20orf45|GNAS1|GPSA|GSA|GSP|NESP|PITA3|POH|SCG6|SgVI
Cytomap

4q31.3

20q13.32

Type of geneprotein-codingprotein-coding
Descriptionfibrinogen beta chainbeta-fibrinogenepididymis secretory sperm binding protein Li 78pfibrinogen, B beta polypeptideprotein 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
Modification date2018052020180523
UniProtAcc

P02675

Q5JWF2

Ensembl transtripts involved in fusion geneENST00000302068, ENST00000509493, 
ENST00000502545, 		ENST00000313949, 
ENST00000371098, ENST00000371075, 
ENST00000371100, ENST00000371099, 
ENST00000371102, ENST00000464624, 
ENST00000306120, ENST00000371095, 
ENST00000371085, ENST00000354359, 
ENST00000265620, ENST00000306090, 
ENST00000371081, 
Fusion gene scores* DoF score6 X 6 X 3=10833 X 25 X 8=6600
# samples 835
** MAII scorelog2(8/108*10)=-0.432959407276106
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(35/6600*10)=-4.23703919730085
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FGB [Title/Abstract] AND GNAS [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
HgeneFGB

GO:0007160

cell-matrix adhesion

10903502

HgeneFGB

GO:0031639

plasminogen activation

16846481

HgeneFGB

GO:0034116

positive regulation of heterotypic cell-cell adhesion

8100742

HgeneFGB

GO:0034622

cellular protein-containing complex assembly

8910396

HgeneFGB

GO:0042730

fibrinolysis

16846481

HgeneFGB

GO:0043152

induction of bacterial agglutination

24367264

HgeneFGB

GO:0045907

positive regulation of vasoconstriction

15739255

HgeneFGB

GO:0045921

positive regulation of exocytosis

19193866

HgeneFGB

GO:0050714

positive regulation of protein secretion

19193866

HgeneFGB

GO:0051258

protein polymerization

12706644

HgeneFGB

GO:0051592

response to calcium ion

6777381

HgeneFGB

GO:0070374

positive regulation of ERK1 and ERK2 cascade

10903502|19193866

HgeneFGB

GO:0070527

platelet aggregation

6281794

HgeneFGB

GO:0072378

blood coagulation, fibrin clot formation

16846481

HgeneFGB

GO:0090277

positive regulation of peptide hormone secretion

19193866

HgeneFGB

GO:1902042

negative regulation of extrinsic apoptotic signaling pathway via death domain receptors

10903502

HgeneFGB

GO:2000352

negative regulation of endothelial cell apoptotic process

10903502


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
ChiTaRS3.1BC020762FGBchr4

155490429

+GNASchr20

57485039

+
* 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
5CDS-3UTRENST00000302068ENST00000313949FGBchr4

155490429

+GNASchr20

57485039

+
5CDS-intronENST00000302068ENST00000371098FGBchr4

155490429

+GNASchr20

57485039

+
5CDS-3UTRENST00000302068ENST00000371075FGBchr4

155490429

+GNASchr20

57485039

+
5CDS-3UTRENST00000302068ENST00000371100FGBchr4

155490429

+GNASchr20

57485039

+
5CDS-intronENST00000302068ENST00000371099FGBchr4

155490429

+GNASchr20

57485039

+
5CDS-intronENST00000302068ENST00000371102FGBchr4

155490429

+GNASchr20

57485039

+
5CDS-3UTRENST00000302068ENST00000464624FGBchr4

155490429

+GNASchr20

57485039

+
5CDS-intronENST00000302068ENST00000306120FGBchr4

155490429

+GNASchr20

57485039

+
5CDS-intronENST00000302068ENST00000371095FGBchr4

155490429

+GNASchr20

57485039

+
5CDS-intronENST00000302068ENST00000371085FGBchr4

155490429

+GNASchr20

57485039

+
5CDS-intronENST00000302068ENST00000354359FGBchr4

155490429

+GNASchr20

57485039

+
5CDS-intronENST00000302068ENST00000265620FGBchr4

155490429

+GNASchr20

57485039

+
5CDS-intronENST00000302068ENST00000306090FGBchr4

155490429

+GNASchr20

57485039

+
5CDS-intronENST00000302068ENST00000371081FGBchr4

155490429

+GNASchr20

57485039

+
5CDS-3UTRENST00000509493ENST00000313949FGBchr4

155490429

+GNASchr20

57485039

+
5CDS-intronENST00000509493ENST00000371098FGBchr4

155490429

+GNASchr20

57485039

+
5CDS-3UTRENST00000509493ENST00000371075FGBchr4

155490429

+GNASchr20

57485039

+
5CDS-3UTRENST00000509493ENST00000371100FGBchr4

155490429

+GNASchr20

57485039

+
5CDS-intronENST00000509493ENST00000371099FGBchr4

155490429

+GNASchr20

57485039

+
5CDS-intronENST00000509493ENST00000371102FGBchr4

155490429

+GNASchr20

57485039

+
5CDS-3UTRENST00000509493ENST00000464624FGBchr4

155490429

+GNASchr20

57485039

+
5CDS-intronENST00000509493ENST00000306120FGBchr4

155490429

+GNASchr20

57485039

+
5CDS-intronENST00000509493ENST00000371095FGBchr4

155490429

+GNASchr20

57485039

+
5CDS-intronENST00000509493ENST00000371085FGBchr4

155490429

+GNASchr20

57485039

+
5CDS-intronENST00000509493ENST00000354359FGBchr4

155490429

+GNASchr20

57485039

+
5CDS-intronENST00000509493ENST00000265620FGBchr4

155490429

+GNASchr20

57485039

+
5CDS-intronENST00000509493ENST00000306090FGBchr4

155490429

+GNASchr20

57485039

+
5CDS-intronENST00000509493ENST00000371081FGBchr4

155490429

+GNASchr20

57485039

+
3UTR-3UTRENST00000502545ENST00000313949FGBchr4

155490429

+GNASchr20

57485039

+
3UTR-intronENST00000502545ENST00000371098FGBchr4

155490429

+GNASchr20

57485039

+
3UTR-3UTRENST00000502545ENST00000371075FGBchr4

155490429

+GNASchr20

57485039

+
3UTR-3UTRENST00000502545ENST00000371100FGBchr4

155490429

+GNASchr20

57485039

+
3UTR-intronENST00000502545ENST00000371099FGBchr4

155490429

+GNASchr20

57485039

+
3UTR-intronENST00000502545ENST00000371102FGBchr4

155490429

+GNASchr20

57485039

+
3UTR-3UTRENST00000502545ENST00000464624FGBchr4

155490429

+GNASchr20

57485039

+
3UTR-intronENST00000502545ENST00000306120FGBchr4

155490429

+GNASchr20

57485039

+
3UTR-intronENST00000502545ENST00000371095FGBchr4

155490429

+GNASchr20

57485039

+
3UTR-intronENST00000502545ENST00000371085FGBchr4

155490429

+GNASchr20

57485039

+
3UTR-intronENST00000502545ENST00000354359FGBchr4

155490429

+GNASchr20

57485039

+
3UTR-intronENST00000502545ENST00000265620FGBchr4

155490429

+GNASchr20

57485039

+
3UTR-intronENST00000502545ENST00000306090FGBchr4

155490429

+GNASchr20

57485039

+
3UTR-intronENST00000502545ENST00000371081FGBchr4

155490429

+GNASchr20

57485039

+

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FusionProtFeatures for FGB_GNAS


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

P02675

GNAS

Q5JWF2

Cleaved by the protease thrombin to yield monomerswhich, together with fibrinogen alpha (FGA) and fibrinogen gamma(FGG), polymerize to form an insoluble fibrin matrix. Fibrin has amajor function in hemostasis as one of the primary components ofblood clots. In addition, functions during the early stages ofwound repair to stabilize the lesion and guide cell migrationduring re-epithelialization. Was originally thought to beessential for platelet aggregation, based on in vitro studiesusing anticoagulated blood. However subsequent studies have shownthat it is not absolutely required for thrombus formation in vivo.Enhances expression of SELP in activated platelets. Maternalfibrinogen is essential for successful pregnancy. Fibrindeposition is also associated with infection, where it protectsagainst IFNG-mediated hemorrhage. May also facilitate theantibacterial immune response via both innate and T-cell mediatedpathways. {ECO:0000250|UniProtKB:E9PV24}. Guanine nucleotide-binding proteins (G proteins)function as transducers in numerous signaling pathways controlledby G protein-coupled receptors (GPCRs). Signaling involves theactivation of adenylyl cyclases, resulting in increased levels ofthe signaling molecule cAMP. GNAS functions downstream of severalGPCRs, including beta-adrenergic receptors. XLas isoforms interactwith the same set of receptors as GNAS isoforms (By similarity).{ECO:0000250|UniProtKB:Q6R0H7}.

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 FGB_GNAS


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 FGB_GNAS


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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RelatedDrugs for FGB_GNAS


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneFGBP02675DB00364SucralfateFibrinogen beta chainsmall moleculeapproved
HgeneFGBP02675DB13151Anti-inhibitor coagulant complexFibrinogen beta chainbiotechapproved|investigational

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RelatedDiseases for FGB_GNAS


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFGBC2584774Congenital hypofibrinogenemia4ORPHANET;UNIPROT
HgeneFGBC0029456Osteoporosis1CTD_human
HgeneFGBC0030567Parkinson Disease1CTD_human
HgeneFGBC0272350Dysfibrinogenemia, Congenital1ORPHANET;UNIPROT
TgeneGNASC3494506Pseudohypoparathyroidism, Type Ia13CTD_human;ORPHANET;UNIPROT
TgeneGNASC0242292McCune-Albright Syndrome5ORPHANET;UNIPROT
TgeneGNASC2931404Albright's hereditary osteodystrophy4CTD_human
TgeneGNASC0016065Polyostotic fibrous dysplasia3CTD_human;HPO;ORPHANET
TgeneGNASC0033806Pseudohypoparathyroidism3CTD_human;HPO
TgeneGNASC1857451Acth-Independent Macronodular Adrenal Hyperplasia3ORPHANET;UNIPROT
TgeneGNASC0014130Endocrine System Diseases2CTD_human
TgeneGNASC0034013Precocious Puberty2CTD_human;HPO
TgeneGNASC0221263Cafe-au-Lait Spots2CTD_human
TgeneGNASC0001206Acromegaly1CTD_human;HPO
TgeneGNASC0001624Adrenal Gland Neoplasms1CTD_human
TgeneGNASC0011573Endogenous depression1PSYGENET
TgeneGNASC0019087Hemorrhagic Disorders1CTD_human
TgeneGNASC0020538Hypertensive disease1CTD_human;HPO
TgeneGNASC0021655Insulin Resistance1CTD_human
TgeneGNASC0023897Liver Diseases, Parasitic1CTD_human
TgeneGNASC0027819Neuroblastoma1CTD_human
TgeneGNASC0028754Obesity1CTD_human;HPO
TgeneGNASC0029396Heterotopic Ossification1CTD_human;HPO
TgeneGNASC0032460Polycystic Ovary Syndrome1CTD_human
TgeneGNASC0033835Pseudopseudohypoparathyroidism1CTD_human;ORPHANET
TgeneGNASC0035204Respiration Disorders1CTD_human
TgeneGNASC0036341Schizophrenia1PSYGENET
TgeneGNASC0038587Substance Withdrawal Syndrome1CTD_human
TgeneGNASC0039231Tachycardia1CTD_human
TgeneGNASC0206698Cholangiocarcinoma1CTD_human
TgeneGNASC0221357Brachydactyly1CTD_human;HPO
TgeneGNASC0242184Hypoxia1CTD_human
TgeneGNASC0242216Biliary calculi1CTD_human
TgeneGNASC0334041Osteoma cutis1CTD_human;ORPHANET;UNIPROT
TgeneGNASC0346302Growth Hormone-Secreting Pituitary Adenoma1CTD_human
TgeneGNASC2932715Pseudohypoparathyroidism Type 1B1CTD_human;ORPHANET
TgeneGNASC2932716Pseudohypoparathyroidism Type 1C1ORPHANET;UNIPROT
TgeneGNASC3714756Intellectual Disability1CTD_human;HPO