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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: 27498

FusionGeneSummary for PLCB4_GNAS

check button Fusion gene summary
Fusion gene informationFusion gene name: PLCB4_GNAS
Fusion gene ID: 27498
HgeneTgene
Gene symbol

PLCB4

GNAS

Gene ID

5332

2778

Gene namephospholipase C beta 4GNAS complex locus
SynonymsARCND2|PI-PLCAHO|C20orf45|GNAS1|GPSA|GSA|GSP|NESP|PITA3|POH|SCG6|SgVI
Cytomap

20p12.3-p12.2

20q13.32

Type of geneprotein-codingprotein-coding
Description1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-41-phosphatidyl-D-myo-inositol-4,5-bisphosphatePLC-beta-4dJ1119D9.2 (Phopholipase C, beta 4 (1-Phosphatidylinositol-4,5-Bisphosphate Phosphodiesterase Beta 4))inositoltrisphosphohydrolaseprotein 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 date2018051920180523
UniProtAcc

Q15147

Q5JWF2

Ensembl transtripts involved in fusion geneENST00000334005, ENST00000378473, 
ENST00000278655, ENST00000414679, 
ENST00000492632, ENST00000378501, 
ENST00000378493, 
ENST00000313949, 
ENST00000371098, ENST00000371075, 
ENST00000371100, ENST00000371099, 
ENST00000371102, ENST00000464624, 
ENST00000306120, ENST00000371095, 
ENST00000371085, ENST00000354359, 
ENST00000265620, ENST00000306090, 
ENST00000371081, 
Fusion gene scores* DoF score6 X 6 X 5=18033 X 25 X 8=6600
# samples 635
** MAII scorelog2(6/180*10)=-1.58496250072116
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: PLCB4 [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

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
TCGALDTHCATCGA-EM-A2P2-01APLCB4chr20

9147342

+GNASchr20

57470667

+
* 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
intron-3UTRENST00000334005ENST00000313949PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-3UTRENST00000334005ENST00000371098PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-3UTRENST00000334005ENST00000371075PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-3UTRENST00000334005ENST00000371100PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000334005ENST00000371099PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000334005ENST00000371102PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-3UTRENST00000334005ENST00000464624PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000334005ENST00000306120PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000334005ENST00000371095PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000334005ENST00000371085PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000334005ENST00000354359PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000334005ENST00000265620PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000334005ENST00000306090PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000334005ENST00000371081PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-3UTRENST00000378473ENST00000313949PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-3UTRENST00000378473ENST00000371098PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-3UTRENST00000378473ENST00000371075PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-3UTRENST00000378473ENST00000371100PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000378473ENST00000371099PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000378473ENST00000371102PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-3UTRENST00000378473ENST00000464624PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000378473ENST00000306120PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000378473ENST00000371095PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000378473ENST00000371085PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000378473ENST00000354359PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000378473ENST00000265620PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000378473ENST00000306090PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000378473ENST00000371081PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-3UTRENST00000278655ENST00000313949PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-3UTRENST00000278655ENST00000371098PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-3UTRENST00000278655ENST00000371075PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-3UTRENST00000278655ENST00000371100PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000278655ENST00000371099PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000278655ENST00000371102PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-3UTRENST00000278655ENST00000464624PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000278655ENST00000306120PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000278655ENST00000371095PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000278655ENST00000371085PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000278655ENST00000354359PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000278655ENST00000265620PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000278655ENST00000306090PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000278655ENST00000371081PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-3UTRENST00000414679ENST00000313949PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-3UTRENST00000414679ENST00000371098PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-3UTRENST00000414679ENST00000371075PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-3UTRENST00000414679ENST00000371100PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000414679ENST00000371099PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000414679ENST00000371102PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-3UTRENST00000414679ENST00000464624PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000414679ENST00000306120PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000414679ENST00000371095PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000414679ENST00000371085PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000414679ENST00000354359PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000414679ENST00000265620PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000414679ENST00000306090PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000414679ENST00000371081PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-3UTRENST00000492632ENST00000313949PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-3UTRENST00000492632ENST00000371098PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-3UTRENST00000492632ENST00000371075PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-3UTRENST00000492632ENST00000371100PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000492632ENST00000371099PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000492632ENST00000371102PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-3UTRENST00000492632ENST00000464624PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000492632ENST00000306120PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000492632ENST00000371095PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000492632ENST00000371085PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000492632ENST00000354359PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000492632ENST00000265620PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000492632ENST00000306090PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000492632ENST00000371081PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-3UTRENST00000378501ENST00000313949PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-3UTRENST00000378501ENST00000371098PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-3UTRENST00000378501ENST00000371075PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-3UTRENST00000378501ENST00000371100PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000378501ENST00000371099PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000378501ENST00000371102PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-3UTRENST00000378501ENST00000464624PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000378501ENST00000306120PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000378501ENST00000371095PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000378501ENST00000371085PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000378501ENST00000354359PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000378501ENST00000265620PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000378501ENST00000306090PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000378501ENST00000371081PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-3UTRENST00000378493ENST00000313949PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-3UTRENST00000378493ENST00000371098PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-3UTRENST00000378493ENST00000371075PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-3UTRENST00000378493ENST00000371100PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000378493ENST00000371099PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000378493ENST00000371102PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-3UTRENST00000378493ENST00000464624PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000378493ENST00000306120PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000378493ENST00000371095PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000378493ENST00000371085PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000378493ENST00000354359PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000378493ENST00000265620PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000378493ENST00000306090PLCB4chr20

9147342

+GNASchr20

57470667

+
intron-intronENST00000378493ENST00000371081PLCB4chr20

9147342

+GNASchr20

57470667

+

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FusionProtFeatures for PLCB4_GNAS


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PLCB4

Q15147

GNAS

Q5JWF2

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 PLCB4_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 PLCB4_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
PLCB4REL, NLGN3GNASFSCN1, PAICS, RUVBL1, SHMT2, TTC1, ADCY6, CRHR1, RGS2, SNX13, VIPR1, GNAS, MDM2, CALM1, GNG2, PCK1, ADRB2, AVPR2, TBXA2R, GNB1, GNAQ, GNA11, SLC25A12, LAMTOR1, NUCB1, NUCB2, HLA-A, OPTN, PTGIR, FUS, AXIN1, PANX1, CCDC8, EGFR, JAK3, GNAL, GNG4, TRO, MAGED2, GNB2, GNB4, C1QBP, METAP2, CPT2, YBEY, GNG10, OCIAD1, GNA12, ARMCX3, GNG5, EIF4H, EML2, GIPC1, DIS3, PFAS, NTRK1, RIC8B, CHEK2, HERC2, XPO1, CAT, DBN1, FLNA, MYH9, DNAJC7, SYNPO, THOC2, ELMSAN1, ADCY2, CDC5L, CD47, GLP1R, NAP1L1, MTNR1B, TRIM25


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


Top

RelatedDrugs for PLCB4_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

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RelatedDiseases for PLCB4_GNAS


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePLCB4C0025202melanoma1CTD_human
HgenePLCB4C0220633Uveal melanoma1CTD_human
HgenePLCB4C3553404AURICULOCONDYLAR SYNDROME 21UNIPROT
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