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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: 11592

FusionGeneSummary for ENC1_GNAS

check button Fusion gene summary
Fusion gene informationFusion gene name: ENC1_GNAS
Fusion gene ID: 11592
HgeneTgene
Gene symbol

ENC1

GNAS

Gene ID

8507

2778

Gene nameectodermal-neural cortex 1GNAS complex locus
SynonymsCCL28|ENC-1|KLHL35|KLHL37|NRPB|PIG10|TP53I10AHO|C20orf45|GNAS1|GPSA|GSA|GSP|NESP|PITA3|POH|SCG6|SgVI
Cytomap

5q13.3

20q13.32

Type of geneprotein-codingprotein-coding
Descriptionectoderm-neural cortex protein 1ectodermal-neural cortex 1 (with BTB domain)ectodermal-neural cortex 1 (with BTB-like domain)kelch-like 35kelch-like family member 37kelch-like protein 37nuclear matrix protein NRP/Bnuclear restricted protein, BTB doprotein 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 date2018052320180523
UniProtAcc

O14682

Q5JWF2

Ensembl transtripts involved in fusion geneENST00000302351, ENST00000510316, 
ENST00000509284, ENST00000537006, 
ENST00000313949, ENST00000371098, 
ENST00000371075, ENST00000371100, 
ENST00000371099, ENST00000371102, 
ENST00000464624, ENST00000306120, 
ENST00000371095, ENST00000371085, 
ENST00000354359, ENST00000265620, 
ENST00000306090, ENST00000371081, 
Fusion gene scores* DoF score3 X 2 X 1=633 X 25 X 8=6600
# samples 435
** MAII scorelog2(4/6*10)=2.73696559416621log2(35/6600*10)=-4.23703919730085
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ENC1 [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
HgeneENC1

GO:0010499

proteasomal ubiquitin-independent protein catabolic process

19424503

HgeneENC1

GO:0016567

protein ubiquitination

15983046

HgeneENC1

GO:0017148

negative regulation of translation

19424503


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
ChiTaRS3.1CB111624ENC1chr5

73936130

-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
5UTR-3UTRENST00000302351ENST00000313949ENC1chr5

73936130

-GNASchr20

57470667

+
5UTR-3UTRENST00000302351ENST00000371098ENC1chr5

73936130

-GNASchr20

57470667

+
5UTR-3UTRENST00000302351ENST00000371075ENC1chr5

73936130

-GNASchr20

57470667

+
5UTR-3UTRENST00000302351ENST00000371100ENC1chr5

73936130

-GNASchr20

57470667

+
5UTR-intronENST00000302351ENST00000371099ENC1chr5

73936130

-GNASchr20

57470667

+
5UTR-intronENST00000302351ENST00000371102ENC1chr5

73936130

-GNASchr20

57470667

+
5UTR-3UTRENST00000302351ENST00000464624ENC1chr5

73936130

-GNASchr20

57470667

+
5UTR-intronENST00000302351ENST00000306120ENC1chr5

73936130

-GNASchr20

57470667

+
5UTR-intronENST00000302351ENST00000371095ENC1chr5

73936130

-GNASchr20

57470667

+
5UTR-intronENST00000302351ENST00000371085ENC1chr5

73936130

-GNASchr20

57470667

+
5UTR-intronENST00000302351ENST00000354359ENC1chr5

73936130

-GNASchr20

57470667

+
5UTR-intronENST00000302351ENST00000265620ENC1chr5

73936130

-GNASchr20

57470667

+
5UTR-intronENST00000302351ENST00000306090ENC1chr5

73936130

-GNASchr20

57470667

+
5UTR-intronENST00000302351ENST00000371081ENC1chr5

73936130

-GNASchr20

57470667

+
5UTR-3UTRENST00000510316ENST00000313949ENC1chr5

73936130

-GNASchr20

57470667

+
5UTR-3UTRENST00000510316ENST00000371098ENC1chr5

73936130

-GNASchr20

57470667

+
5UTR-3UTRENST00000510316ENST00000371075ENC1chr5

73936130

-GNASchr20

57470667

+
5UTR-3UTRENST00000510316ENST00000371100ENC1chr5

73936130

-GNASchr20

57470667

+
5UTR-intronENST00000510316ENST00000371099ENC1chr5

73936130

-GNASchr20

57470667

+
5UTR-intronENST00000510316ENST00000371102ENC1chr5

73936130

-GNASchr20

57470667

+
5UTR-3UTRENST00000510316ENST00000464624ENC1chr5

73936130

-GNASchr20

57470667

+
5UTR-intronENST00000510316ENST00000306120ENC1chr5

73936130

-GNASchr20

57470667

+
5UTR-intronENST00000510316ENST00000371095ENC1chr5

73936130

-GNASchr20

57470667

+
5UTR-intronENST00000510316ENST00000371085ENC1chr5

73936130

-GNASchr20

57470667

+
5UTR-intronENST00000510316ENST00000354359ENC1chr5

73936130

-GNASchr20

57470667

+
5UTR-intronENST00000510316ENST00000265620ENC1chr5

73936130

-GNASchr20

57470667

+
5UTR-intronENST00000510316ENST00000306090ENC1chr5

73936130

-GNASchr20

57470667

+
5UTR-intronENST00000510316ENST00000371081ENC1chr5

73936130

-GNASchr20

57470667

+
intron-3UTRENST00000509284ENST00000313949ENC1chr5

73936130

-GNASchr20

57470667

+
intron-3UTRENST00000509284ENST00000371098ENC1chr5

73936130

-GNASchr20

57470667

+
intron-3UTRENST00000509284ENST00000371075ENC1chr5

73936130

-GNASchr20

57470667

+
intron-3UTRENST00000509284ENST00000371100ENC1chr5

73936130

-GNASchr20

57470667

+
intron-intronENST00000509284ENST00000371099ENC1chr5

73936130

-GNASchr20

57470667

+
intron-intronENST00000509284ENST00000371102ENC1chr5

73936130

-GNASchr20

57470667

+
intron-3UTRENST00000509284ENST00000464624ENC1chr5

73936130

-GNASchr20

57470667

+
intron-intronENST00000509284ENST00000306120ENC1chr5

73936130

-GNASchr20

57470667

+
intron-intronENST00000509284ENST00000371095ENC1chr5

73936130

-GNASchr20

57470667

+
intron-intronENST00000509284ENST00000371085ENC1chr5

73936130

-GNASchr20

57470667

+
intron-intronENST00000509284ENST00000354359ENC1chr5

73936130

-GNASchr20

57470667

+
intron-intronENST00000509284ENST00000265620ENC1chr5

73936130

-GNASchr20

57470667

+
intron-intronENST00000509284ENST00000306090ENC1chr5

73936130

-GNASchr20

57470667

+
intron-intronENST00000509284ENST00000371081ENC1chr5

73936130

-GNASchr20

57470667

+
5UTR-3UTRENST00000537006ENST00000313949ENC1chr5

73936130

-GNASchr20

57470667

+
5UTR-3UTRENST00000537006ENST00000371098ENC1chr5

73936130

-GNASchr20

57470667

+
5UTR-3UTRENST00000537006ENST00000371075ENC1chr5

73936130

-GNASchr20

57470667

+
5UTR-3UTRENST00000537006ENST00000371100ENC1chr5

73936130

-GNASchr20

57470667

+
5UTR-intronENST00000537006ENST00000371099ENC1chr5

73936130

-GNASchr20

57470667

+
5UTR-intronENST00000537006ENST00000371102ENC1chr5

73936130

-GNASchr20

57470667

+
5UTR-3UTRENST00000537006ENST00000464624ENC1chr5

73936130

-GNASchr20

57470667

+
5UTR-intronENST00000537006ENST00000306120ENC1chr5

73936130

-GNASchr20

57470667

+
5UTR-intronENST00000537006ENST00000371095ENC1chr5

73936130

-GNASchr20

57470667

+
5UTR-intronENST00000537006ENST00000371085ENC1chr5

73936130

-GNASchr20

57470667

+
5UTR-intronENST00000537006ENST00000354359ENC1chr5

73936130

-GNASchr20

57470667

+
5UTR-intronENST00000537006ENST00000265620ENC1chr5

73936130

-GNASchr20

57470667

+
5UTR-intronENST00000537006ENST00000306090ENC1chr5

73936130

-GNASchr20

57470667

+
5UTR-intronENST00000537006ENST00000371081ENC1chr5

73936130

-GNASchr20

57470667

+

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FusionProtFeatures for ENC1_GNAS


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ENC1

O14682

GNAS

Q5JWF2

Actin-binding protein involved in the regulation ofneuronal process formation and in differentiation of neural crestcells. Down-regulates transcription factor NF2L2/NRF2 bydecreasing the rate of protein synthesis and not via a ubiquitin-mediated proteasomal degradation mechanism.{ECO:0000269|PubMed:19424503}. 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 ENC1_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 ENC1_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
ENC1RB1, CUL3, RBX1, KEAP1, NACC1, NFE2L2, SNCA, HSP90AA1, ACTB, ENC1, SQSTM1, KLHL25, NUDCD3, PLIN5GNASFSCN1, 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


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RelatedDrugs for ENC1_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 ENC1_GNAS


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneENC1C0023893Liver Cirrhosis, Experimental1CTD_human
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