FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 14867

FusionGeneSummary for GNAS_CLCN3

check button Fusion gene summary
Fusion gene informationFusion gene name: GNAS_CLCN3
Fusion gene ID: 14867
HgeneTgene
Gene symbol

GNAS

CLCN3

Gene ID

2778

1182

Gene nameGNAS complex locuschloride voltage-gated channel 3
SynonymsAHO|C20orf45|GNAS1|GPSA|GSA|GSP|NESP|PITA3|POH|SCG6|SgVICLC3|ClC-3
Cytomap

20q13.32

4q33

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 H(+)/Cl(-) exchange transporter 3chloride channel 3chloride channel protein 3chloride channel, voltage-sensitive 3chloride transporter ClC-3
Modification date2018052320180523
UniProtAcc

Q5JWF2

P51790

Ensembl transtripts involved in fusion geneENST00000313949, ENST00000371098, 
ENST00000371075, ENST00000371100, 
ENST00000371099, ENST00000371102, 
ENST00000464624, ENST00000306120, 
ENST00000371095, ENST00000371085, 
ENST00000354359, ENST00000265620, 
ENST00000306090, ENST00000371081, 
ENST00000513761, ENST00000347613, 
ENST00000360642, ENST00000504131, 
ENST00000506924, 
Fusion gene scores* DoF score34 X 18 X 17=1040436 X 4 X 19=2736
# samples 4639
** MAII scorelog2(46/10404*10)=-4.49936063299862
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(39/2736*10)=-2.81052220113629
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GNAS [Title/Abstract] AND CLCN3 [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
TgeneCLCN3

GO:1902476

chloride transmembrane transport

11274166


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
TCGARVTHCATCGA-ET-A25I-01AGNASchr20

57486241

+CLCN3chr4

170623929

+
* 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-intronENST00000313949ENST00000513761GNASchr20

57486241

+CLCN3chr4

170623929

+
5CDS-intronENST00000313949ENST00000347613GNASchr20

57486241

+CLCN3chr4

170623929

+
5CDS-intronENST00000313949ENST00000360642GNASchr20

57486241

+CLCN3chr4

170623929

+
5CDS-intronENST00000313949ENST00000504131GNASchr20

57486241

+CLCN3chr4

170623929

+
5CDS-intronENST00000313949ENST00000506924GNASchr20

57486241

+CLCN3chr4

170623929

+
intron-intronENST00000371098ENST00000513761GNASchr20

57486241

+CLCN3chr4

170623929

+
intron-intronENST00000371098ENST00000347613GNASchr20

57486241

+CLCN3chr4

170623929

+
intron-intronENST00000371098ENST00000360642GNASchr20

57486241

+CLCN3chr4

170623929

+
intron-intronENST00000371098ENST00000504131GNASchr20

57486241

+CLCN3chr4

170623929

+
intron-intronENST00000371098ENST00000506924GNASchr20

57486241

+CLCN3chr4

170623929

+
5CDS-intronENST00000371075ENST00000513761GNASchr20

57486241

+CLCN3chr4

170623929

+
5CDS-intronENST00000371075ENST00000347613GNASchr20

57486241

+CLCN3chr4

170623929

+
5CDS-intronENST00000371075ENST00000360642GNASchr20

57486241

+CLCN3chr4

170623929

+
5CDS-intronENST00000371075ENST00000504131GNASchr20

57486241

+CLCN3chr4

170623929

+
5CDS-intronENST00000371075ENST00000506924GNASchr20

57486241

+CLCN3chr4

170623929

+
5CDS-intronENST00000371100ENST00000513761GNASchr20

57486241

+CLCN3chr4

170623929

+
5CDS-intronENST00000371100ENST00000347613GNASchr20

57486241

+CLCN3chr4

170623929

+
5CDS-intronENST00000371100ENST00000360642GNASchr20

57486241

+CLCN3chr4

170623929

+
5CDS-intronENST00000371100ENST00000504131GNASchr20

57486241

+CLCN3chr4

170623929

+
5CDS-intronENST00000371100ENST00000506924GNASchr20

57486241

+CLCN3chr4

170623929

+
intron-intronENST00000371099ENST00000513761GNASchr20

57486241

+CLCN3chr4

170623929

+
intron-intronENST00000371099ENST00000347613GNASchr20

57486241

+CLCN3chr4

170623929

+
intron-intronENST00000371099ENST00000360642GNASchr20

57486241

+CLCN3chr4

170623929

+
intron-intronENST00000371099ENST00000504131GNASchr20

57486241

+CLCN3chr4

170623929

+
intron-intronENST00000371099ENST00000506924GNASchr20

57486241

+CLCN3chr4

170623929

+
5CDS-intronENST00000371102ENST00000513761GNASchr20

57486241

+CLCN3chr4

170623929

+
5CDS-intronENST00000371102ENST00000347613GNASchr20

57486241

+CLCN3chr4

170623929

+
5CDS-intronENST00000371102ENST00000360642GNASchr20

57486241

+CLCN3chr4

170623929

+
5CDS-intronENST00000371102ENST00000504131GNASchr20

57486241

+CLCN3chr4

170623929

+
5CDS-intronENST00000371102ENST00000506924GNASchr20

57486241

+CLCN3chr4

170623929

+
5CDS-intronENST00000464624ENST00000513761GNASchr20

57486241

+CLCN3chr4

170623929

+
5CDS-intronENST00000464624ENST00000347613GNASchr20

57486241

+CLCN3chr4

170623929

+
5CDS-intronENST00000464624ENST00000360642GNASchr20

57486241

+CLCN3chr4

170623929

+
5CDS-intronENST00000464624ENST00000504131GNASchr20

57486241

+CLCN3chr4

170623929

+
5CDS-intronENST00000464624ENST00000506924GNASchr20

57486241

+CLCN3chr4

170623929

+
intron-intronENST00000306120ENST00000513761GNASchr20

57486241

+CLCN3chr4

170623929

+
intron-intronENST00000306120ENST00000347613GNASchr20

57486241

+CLCN3chr4

170623929

+
intron-intronENST00000306120ENST00000360642GNASchr20

57486241

+CLCN3chr4

170623929

+
intron-intronENST00000306120ENST00000504131GNASchr20

57486241

+CLCN3chr4

170623929

+
intron-intronENST00000306120ENST00000506924GNASchr20

57486241

+CLCN3chr4

170623929

+
5CDS-intronENST00000371095ENST00000513761GNASchr20

57486241

+CLCN3chr4

170623929

+
5CDS-intronENST00000371095ENST00000347613GNASchr20

57486241

+CLCN3chr4

170623929

+
5CDS-intronENST00000371095ENST00000360642GNASchr20

57486241

+CLCN3chr4

170623929

+
5CDS-intronENST00000371095ENST00000504131GNASchr20

57486241

+CLCN3chr4

170623929

+
5CDS-intronENST00000371095ENST00000506924GNASchr20

57486241

+CLCN3chr4

170623929

+
5CDS-intronENST00000371085ENST00000513761GNASchr20

57486241

+CLCN3chr4

170623929

+
5CDS-intronENST00000371085ENST00000347613GNASchr20

57486241

+CLCN3chr4

170623929

+
5CDS-intronENST00000371085ENST00000360642GNASchr20

57486241

+CLCN3chr4

170623929

+
5CDS-intronENST00000371085ENST00000504131GNASchr20

57486241

+CLCN3chr4

170623929

+
5CDS-intronENST00000371085ENST00000506924GNASchr20

57486241

+CLCN3chr4

170623929

+
5CDS-intronENST00000354359ENST00000513761GNASchr20

57486241

+CLCN3chr4

170623929

+
5CDS-intronENST00000354359ENST00000347613GNASchr20

57486241

+CLCN3chr4

170623929

+
5CDS-intronENST00000354359ENST00000360642GNASchr20

57486241

+CLCN3chr4

170623929

+
5CDS-intronENST00000354359ENST00000504131GNASchr20

57486241

+CLCN3chr4

170623929

+
5CDS-intronENST00000354359ENST00000506924GNASchr20

57486241

+CLCN3chr4

170623929

+
5CDS-intronENST00000265620ENST00000513761GNASchr20

57486241

+CLCN3chr4

170623929

+
5CDS-intronENST00000265620ENST00000347613GNASchr20

57486241

+CLCN3chr4

170623929

+
5CDS-intronENST00000265620ENST00000360642GNASchr20

57486241

+CLCN3chr4

170623929

+
5CDS-intronENST00000265620ENST00000504131GNASchr20

57486241

+CLCN3chr4

170623929

+
5CDS-intronENST00000265620ENST00000506924GNASchr20

57486241

+CLCN3chr4

170623929

+
5CDS-intronENST00000306090ENST00000513761GNASchr20

57486241

+CLCN3chr4

170623929

+
5CDS-intronENST00000306090ENST00000347613GNASchr20

57486241

+CLCN3chr4

170623929

+
5CDS-intronENST00000306090ENST00000360642GNASchr20

57486241

+CLCN3chr4

170623929

+
5CDS-intronENST00000306090ENST00000504131GNASchr20

57486241

+CLCN3chr4

170623929

+
5CDS-intronENST00000306090ENST00000506924GNASchr20

57486241

+CLCN3chr4

170623929

+
intron-intronENST00000371081ENST00000513761GNASchr20

57486241

+CLCN3chr4

170623929

+
intron-intronENST00000371081ENST00000347613GNASchr20

57486241

+CLCN3chr4

170623929

+
intron-intronENST00000371081ENST00000360642GNASchr20

57486241

+CLCN3chr4

170623929

+
intron-intronENST00000371081ENST00000504131GNASchr20

57486241

+CLCN3chr4

170623929

+
intron-intronENST00000371081ENST00000506924GNASchr20

57486241

+CLCN3chr4

170623929

+

Top

FusionProtFeatures for GNAS_CLCN3


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

Q5JWF2

CLCN3

P51790

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}. Mediates the exchange of chloride ions against protons.Functions as antiporter and contributes to the acidification ofthe endosome and synaptic vesicle lumen, and may thereby affectvesicle trafficking and exocytosis. May play an important role inneuronal cell function through regulation of membrane excitabilityby protein kinase C. It could help neuronal cells to establishshort-term memory. {ECO:0000269|PubMed:11967229}.

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


Top

FusionGeneSequence for GNAS_CLCN3


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 GNAS_CLCN3


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
GNASFSCN1, 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, TRIM25CLCN3CLCN3, SLC9A3R1, PDZK1, GOPC, CFTR, LGALS3, LGALS8, LGALS9, LYPD3, HSPB1, TMEM9B, GGA1, TPCN2, 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 GNAS_CLCN3


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 GNAS_CLCN3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGNASC3494506Pseudohypoparathyroidism, Type Ia13CTD_human;ORPHANET;UNIPROT
HgeneGNASC0242292McCune-Albright Syndrome5ORPHANET;UNIPROT
HgeneGNASC2931404Albright's hereditary osteodystrophy4CTD_human
HgeneGNASC0016065Polyostotic fibrous dysplasia3CTD_human;HPO;ORPHANET
HgeneGNASC0033806Pseudohypoparathyroidism3CTD_human;HPO
HgeneGNASC1857451Acth-Independent Macronodular Adrenal Hyperplasia3ORPHANET;UNIPROT
HgeneGNASC0014130Endocrine System Diseases2CTD_human
HgeneGNASC0034013Precocious Puberty2CTD_human;HPO
HgeneGNASC0221263Cafe-au-Lait Spots2CTD_human
HgeneGNASC0001206Acromegaly1CTD_human;HPO
HgeneGNASC0001624Adrenal Gland Neoplasms1CTD_human
HgeneGNASC0011573Endogenous depression1PSYGENET
HgeneGNASC0019087Hemorrhagic Disorders1CTD_human
HgeneGNASC0020538Hypertensive disease1CTD_human;HPO
HgeneGNASC0021655Insulin Resistance1CTD_human
HgeneGNASC0023897Liver Diseases, Parasitic1CTD_human
HgeneGNASC0027819Neuroblastoma1CTD_human
HgeneGNASC0028754Obesity1CTD_human;HPO
HgeneGNASC0029396Heterotopic Ossification1CTD_human;HPO
HgeneGNASC0032460Polycystic Ovary Syndrome1CTD_human
HgeneGNASC0033835Pseudopseudohypoparathyroidism1CTD_human;ORPHANET
HgeneGNASC0035204Respiration Disorders1CTD_human
HgeneGNASC0036341Schizophrenia1PSYGENET
HgeneGNASC0038587Substance Withdrawal Syndrome1CTD_human
HgeneGNASC0039231Tachycardia1CTD_human
HgeneGNASC0206698Cholangiocarcinoma1CTD_human
HgeneGNASC0221357Brachydactyly1CTD_human;HPO
HgeneGNASC0242184Hypoxia1CTD_human
HgeneGNASC0242216Biliary calculi1CTD_human
HgeneGNASC0334041Osteoma cutis1CTD_human;ORPHANET;UNIPROT
HgeneGNASC0346302Growth Hormone-Secreting Pituitary Adenoma1CTD_human
HgeneGNASC2932715Pseudohypoparathyroidism Type 1B1CTD_human;ORPHANET
HgeneGNASC2932716Pseudohypoparathyroidism Type 1C1ORPHANET;UNIPROT
HgeneGNASC3714756Intellectual Disability1CTD_human;HPO
TgeneCLCN3C0017638Glioma1CTD_human
TgeneCLCN3C0038356Stomach Neoplasms1CTD_human
TgeneCLCN3C2931822Nasopharyngeal carcinoma1CTD_human