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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: 27540

FusionGeneSummary for PLD3_GNAS

check button Fusion gene summary
Fusion gene informationFusion gene name: PLD3_GNAS
Fusion gene ID: 27540
HgeneTgene
Gene symbol

PLD3

GNAS

Gene ID

23646

2778

Gene namephospholipase D family member 3GNAS complex locus
SynonymsAD19|HU-K4|HUK4|SCA46AHO|C20orf45|GNAS1|GPSA|GSA|GSP|NESP|PITA3|POH|SCG6|SgVI
Cytomap

19q13.2

20q13.32

Type of geneprotein-codingprotein-coding
Descriptionphospholipase D3choline phosphatase 3hindIII K4L homologphosphatidylcholine-hydrolyzing phospholipase D3protein 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

Q8IV08

Q5JWF2

Ensembl transtripts involved in fusion geneENST00000409419, ENST00000409587, 
ENST00000594085, ENST00000409735, 
ENST00000356508, ENST00000409281, 
ENST00000313949, ENST00000371098, 
ENST00000371075, ENST00000371100, 
ENST00000371099, ENST00000371102, 
ENST00000464624, ENST00000306120, 
ENST00000371095, ENST00000371085, 
ENST00000354359, ENST00000265620, 
ENST00000306090, ENST00000371081, 
Fusion gene scores* DoF score10 X 9 X 5=45033 X 25 X 8=6600
# samples 1135
** MAII scorelog2(11/450*10)=-2.03242147769238
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: PLD3 [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
TCGALDPCPGTCGA-QR-A6GT-01APLD3chr19

40882681

+GNASchr20

57473996

+
* 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-3UTRENST00000409419ENST00000313949PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-3UTRENST00000409419ENST00000371098PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-3UTRENST00000409419ENST00000371075PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-3UTRENST00000409419ENST00000371100PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-intronENST00000409419ENST00000371099PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-intronENST00000409419ENST00000371102PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-3UTRENST00000409419ENST00000464624PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-intronENST00000409419ENST00000306120PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-intronENST00000409419ENST00000371095PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-intronENST00000409419ENST00000371085PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-intronENST00000409419ENST00000354359PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-intronENST00000409419ENST00000265620PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-intronENST00000409419ENST00000306090PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-intronENST00000409419ENST00000371081PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-3UTRENST00000409587ENST00000313949PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-3UTRENST00000409587ENST00000371098PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-3UTRENST00000409587ENST00000371075PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-3UTRENST00000409587ENST00000371100PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-intronENST00000409587ENST00000371099PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-intronENST00000409587ENST00000371102PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-3UTRENST00000409587ENST00000464624PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-intronENST00000409587ENST00000306120PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-intronENST00000409587ENST00000371095PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-intronENST00000409587ENST00000371085PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-intronENST00000409587ENST00000354359PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-intronENST00000409587ENST00000265620PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-intronENST00000409587ENST00000306090PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-intronENST00000409587ENST00000371081PLD3chr19

40882681

+GNASchr20

57473996

+
intron-3UTRENST00000594085ENST00000313949PLD3chr19

40882681

+GNASchr20

57473996

+
intron-3UTRENST00000594085ENST00000371098PLD3chr19

40882681

+GNASchr20

57473996

+
intron-3UTRENST00000594085ENST00000371075PLD3chr19

40882681

+GNASchr20

57473996

+
intron-3UTRENST00000594085ENST00000371100PLD3chr19

40882681

+GNASchr20

57473996

+
intron-intronENST00000594085ENST00000371099PLD3chr19

40882681

+GNASchr20

57473996

+
intron-intronENST00000594085ENST00000371102PLD3chr19

40882681

+GNASchr20

57473996

+
intron-3UTRENST00000594085ENST00000464624PLD3chr19

40882681

+GNASchr20

57473996

+
intron-intronENST00000594085ENST00000306120PLD3chr19

40882681

+GNASchr20

57473996

+
intron-intronENST00000594085ENST00000371095PLD3chr19

40882681

+GNASchr20

57473996

+
intron-intronENST00000594085ENST00000371085PLD3chr19

40882681

+GNASchr20

57473996

+
intron-intronENST00000594085ENST00000354359PLD3chr19

40882681

+GNASchr20

57473996

+
intron-intronENST00000594085ENST00000265620PLD3chr19

40882681

+GNASchr20

57473996

+
intron-intronENST00000594085ENST00000306090PLD3chr19

40882681

+GNASchr20

57473996

+
intron-intronENST00000594085ENST00000371081PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-3UTRENST00000409735ENST00000313949PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-3UTRENST00000409735ENST00000371098PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-3UTRENST00000409735ENST00000371075PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-3UTRENST00000409735ENST00000371100PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-intronENST00000409735ENST00000371099PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-intronENST00000409735ENST00000371102PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-3UTRENST00000409735ENST00000464624PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-intronENST00000409735ENST00000306120PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-intronENST00000409735ENST00000371095PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-intronENST00000409735ENST00000371085PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-intronENST00000409735ENST00000354359PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-intronENST00000409735ENST00000265620PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-intronENST00000409735ENST00000306090PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-intronENST00000409735ENST00000371081PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-3UTRENST00000356508ENST00000313949PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-3UTRENST00000356508ENST00000371098PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-3UTRENST00000356508ENST00000371075PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-3UTRENST00000356508ENST00000371100PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-intronENST00000356508ENST00000371099PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-intronENST00000356508ENST00000371102PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-3UTRENST00000356508ENST00000464624PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-intronENST00000356508ENST00000306120PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-intronENST00000356508ENST00000371095PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-intronENST00000356508ENST00000371085PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-intronENST00000356508ENST00000354359PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-intronENST00000356508ENST00000265620PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-intronENST00000356508ENST00000306090PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-intronENST00000356508ENST00000371081PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-3UTRENST00000409281ENST00000313949PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-3UTRENST00000409281ENST00000371098PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-3UTRENST00000409281ENST00000371075PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-3UTRENST00000409281ENST00000371100PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-intronENST00000409281ENST00000371099PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-intronENST00000409281ENST00000371102PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-3UTRENST00000409281ENST00000464624PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-intronENST00000409281ENST00000306120PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-intronENST00000409281ENST00000371095PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-intronENST00000409281ENST00000371085PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-intronENST00000409281ENST00000354359PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-intronENST00000409281ENST00000265620PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-intronENST00000409281ENST00000306090PLD3chr19

40882681

+GNASchr20

57473996

+
5CDS-intronENST00000409281ENST00000371081PLD3chr19

40882681

+GNASchr20

57473996

+

Top

FusionProtFeatures for PLD3_GNAS


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PLD3

Q8IV08

GNAS

Q5JWF2

May be involved in APP processing.{ECO:0000305|PubMed:24336208}. 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 PLD3_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).

Top

FusionGenePPI for PLD3_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
PLD3HGS, BCL2L1, TK1, ANXA7, SPP1, FBXO6, NFKB1, EIF2S3, ERP44, FUBP1, NUDCD1, PPP5C, EGFR, CUL7, SOX4, HNRNPH3, NTRK1, STK11, TCTN2, EVC2, TMEM17, TMEM216, LTN1GNASFSCN1, 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 PLD3_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

Top

RelatedDiseases for PLD3_GNAS


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