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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: 14859

FusionGeneSummary for GNAQ_FBP1

check button Fusion gene summary
Fusion gene informationFusion gene name: GNAQ_FBP1
Fusion gene ID: 14859
HgeneTgene
Gene symbol

GNAQ

FBP1

Gene ID

2776

2203

Gene nameG protein subunit alpha qfructose-bisphosphatase 1
SynonymsCMC1|G-ALPHA-q|GAQ|SWSFBP
Cytomap

9q21.2

9q22.32

Type of geneprotein-codingprotein-coding
Descriptionguanine nucleotide-binding protein G(q) subunit alphaguanine nucleotide binding protein (G protein), q polypeptideguanine nucleotide-binding protein alpha-qfructose-1,6-bisphosphatase 1D-fructose-1,6-bisphosphate 1-phosphohydrolase 1FBPase 1growth-inhibiting protein 17liver FBPase
Modification date2018052320180523
UniProtAcc

P50148

P09467

Ensembl transtripts involved in fusion geneENST00000286548, ENST00000397476, 
ENST00000375326, ENST00000415431, 
Fusion gene scores* DoF score6 X 5 X 4=1201 X 1 X 1=1
# samples 71
** MAII scorelog2(7/120*10)=-0.777607578663552
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: GNAQ [Title/Abstract] AND FBP1 [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
TgeneFBP1

GO:0006002

fructose 6-phosphate metabolic process

8387495|16442285

TgeneFBP1

GO:0016311

dephosphorylation

8387495|18650089

TgeneFBP1

GO:0030308

negative regulation of cell growth

19881551

TgeneFBP1

GO:0035690

cellular response to drug

16442285|18650089

TgeneFBP1

GO:0045820

negative regulation of glycolytic process

19881551

TgeneFBP1

GO:0046580

negative regulation of Ras protein signal transduction

19881551

TgeneFBP1

GO:0051289

protein homotetramerization

16442285|18650089

TgeneFBP1

GO:0071286

cellular response to magnesium ion

10222032


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
TCGALDESCATCGA-V5-AASW-01AGNAQchr9

80646016

-FBP1chr9

97382773

-
* 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-shitENST00000286548ENST00000375326GNAQchr9

80646016

-FBP1chr9

97382773

-
Frame-shitENST00000286548ENST00000415431GNAQchr9

80646016

-FBP1chr9

97382773

-
intron-3CDSENST00000397476ENST00000375326GNAQchr9

80646016

-FBP1chr9

97382773

-
intron-3CDSENST00000397476ENST00000415431GNAQchr9

80646016

-FBP1chr9

97382773

-

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FusionProtFeatures for GNAQ_FBP1


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

P50148

FBP1

P09467

Guanine nucleotide-binding proteins (G proteins) areinvolved as modulators or transducers in various transmembranesignaling systems. Regulates B-cell selection and survival and isrequired to prevent B-cell-dependent autoimmunity. Regulateschemotaxis of BM-derived neutrophils and dendritic cells (invitro) (By similarity). {ECO:0000250}. Catalyzes the hydrolysis of fructose 1,6-bisphosphate tofructose 6-phosphate in the presence of divalent cations, actingas a rate-limiting enzyme in gluconeogenesis. Plays a role inregulating glucose sensing and insulin secretion of pancreaticbeta-cells. Appears to modulate glycerol gluconeogenesis in liver.Important regulator of appetite and adiposity; increasedexpression of the protein in liver after nutrient excess increasescirculating satiety hormones and reduces appetite-stimulatingneuropeptides and thus seems to provide a feedback mechanism tolimit weight gain. {ECO:0000269|PubMed:16497803,ECO:0000269|PubMed:18375435, ECO:0000269|PubMed:22517657}.

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 GNAQ_FBP1


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 GNAQ_FBP1


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
GNAQRGS4, RGS16, ADRBK1, RGS2, TTC1, PIK3CA, PIK3R1, RGS7, GRM7, AKAP13, RGS18, CRHR1, RGS5, BTK, RIC8A, VIPR1, F2R, MRGPRX1, TBXA2R, GNAS, CDK19, ATP4A, ADHFE1, PPT1, NT5C3A, LUM, WDR36, PLCB2, PTGIR, PLCB1, CYTH2, ARF6, CYTH1, CYTH3, IQSEC1, PSD, GNB3, AIP, ABCE1, SLC25A41, HOXB5, HAX1, NUFIP1, DGUOK, DNAAF2, TAS2R7, FYTTD1, CCR1, P2RY8, TMEM185A, CCNL2, SLC16A14, PIFO, GNB1, GNB2, GNB4, RIC8B, CD47, GNG3, GJB7, GNG4, DUSP22, ATG3, S1PR1, KIFAP3, S1PR2, TIGD5, ISG20, EXOC6, MED21, PCDHGC3, RNF111, FGB, ZNF843, SPRED2, C1QL4, TRIM25FBP1PCNXL4, FXR2, RNF183, LNX1, FBP1, ATP5J2, ASCC2, HSPA8, CSNK1E, DYNC1I1, BCL2L1, PTK2, HDAC6, PARK2, TERF1, POT1, KLRC2, ASL, BIN1, FBP2, ST6GALNAC5, CCDC68, MGC39584, SLAMF8, TIGD7, CROT, SAMD7, GIMAP2


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 GNAQ_FBP1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for GNAQ_FBP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGNAQC0220633Uveal melanoma3CTD_human;ORPHANET
HgeneGNAQC0038505Sturge-Weber Syndrome2CTD_human;ORPHANET;UNIPROT
HgeneGNAQC0001925Albuminuria1CTD_human
HgeneGNAQC0005779Blood Coagulation Disorders1CTD_human
HgeneGNAQC0017668Focal glomerulosclerosis1CTD_human
HgeneGNAQC0018798Congenital Heart Defects1CTD_human
HgeneGNAQC0025202melanoma1CTD_human
HgeneGNAQC0235752Port-Wine Stain1CTD_human;HPO;ORPHANET
HgeneGNAQC0376634Craniofacial Abnormalities1CTD_human
TgeneFBP1C0016756Fructose-1,6-Diphosphatase Deficiency2CTD_human;ORPHANET;UNIPROT
TgeneFBP1C0009375Colonic Neoplasms1CTD_human
TgeneFBP1C0030567Parkinson Disease1CTD_human
TgeneFBP1C0036341Schizophrenia1PSYGENET
TgeneFBP1C0038356Stomach Neoplasms1CTD_human
TgeneFBP1C2239176Liver carcinoma1CTD_human