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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: 12314

FusionGeneSummary for EXOSC6_ENO1

check button Fusion gene summary
Fusion gene informationFusion gene name: EXOSC6_ENO1
Fusion gene ID: 12314
HgeneTgene
Gene symbol

EXOSC6

ENO1

Gene ID

118460

2023

Gene nameexosome component 6enolase 1
SynonymsEAP4|MTR3|Mtr3p|hMtr3p|p11ENO1L1|HEL-S-17|MPB1|NNE|PPH
Cytomap

16q22.1

1p36.23

Type of geneprotein-codingprotein-coding
Descriptionexosome complex component MTR3Mtr3 (mRNA transport regulator 3)-homologexosome complex exonuclease MTR3hMtr3homolog of yeast mRNA transport regulator 3mRNA transport regulator 3 homologalpha-enolasec-myc promoter-binding protein-12-phospho-D-glycerate hydro-lyaseMYC promoter-binding protein 1alpha enolase like 1enolase 1, (alpha)enolase-alphaepididymis secretory protein Li 17non-neural enolasephosphopyruvate hydrataseplasminog
Modification date2018052320180523
UniProtAcc

Q5RKV6

P06733

Ensembl transtripts involved in fusion geneENST00000435634, ENST00000234590, 
Fusion gene scores* DoF score2 X 2 X 1=413 X 19 X 2=494
# samples 220
** MAII scorelog2(2/4*10)=2.32192809488736log2(20/494*10)=-1.30451104180995
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EXOSC6 [Title/Abstract] AND ENO1 [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
HgeneEXOSC6

GO:0045006

DNA deamination

21255825

TgeneENO1

GO:0000122

negative regulation of transcription by RNA polymerase II

2005901

TgeneENO1

GO:0030308

negative regulation of cell growth

10082554

TgeneENO1

GO:0045892

negative regulation of transcription, DNA-templated

10082554

TgeneENO1

GO:1903298

negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway

15459207

TgeneENO1

GO:2001171

positive regulation of ATP biosynthetic process

15459207


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
ChiTaRS3.1CR993092EXOSC6chr16

70285575

-ENO1chr1

8932037

-
* 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-3CDSENST00000435634ENST00000234590EXOSC6chr16

70285575

-ENO1chr1

8932037

-

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FusionProtFeatures for EXOSC6_ENO1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EXOSC6

Q5RKV6

ENO1

P06733

Non-catalytic component of the RNA exosome complex whichhas 3'->5' exoribonuclease activity and participates in amultitude of cellular RNA processing and degradation events. Inthe nucleus, the RNA exosome complex is involved in propermaturation of stable RNA species such as rRNA, snRNA and snoRNA,in the elimination of RNA processing by-products and non-coding'pervasive' transcripts, such as antisense RNA species andpromoter-upstream transcripts (PROMPTs), and of mRNAs withprocessing defects, thereby limiting or excluding their export tothe cytoplasm. The RNA exosome may be involved in Ig class switchrecombination (CSR) and/or Ig variable region somatichypermutation (SHM) by targeting AICDA deamination activity totranscribed dsDNA substrates. In the cytoplasm, the RNA exosomecomplex is involved in general mRNA turnover and specificallydegrades inherently unstable mRNAs containing AU-rich elements(AREs) within their 3' untranslated regions, and in RNAsurveillance pathways, preventing translation of aberrant mRNAs.It seems to be involved in degradation of histone mRNA. Thecatalytic inactive RNA exosome core complex of 9 subunits (Exo-9)is proposed to play a pivotal role in the binding and presentationof RNA for ribonucleolysis, and to serve as a scaffold for theassociation with catalytic subunits and accessory proteins orcomplexes. {ECO:0000269|PubMed:21255825}.

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 EXOSC6_ENO1


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 EXOSC6_ENO1


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


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 EXOSC6_ENO1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneENO1P06733DB01593ZincAlpha-enolasesmall moleculeapproved|investigational
TgeneENO1P06733DB11638ArtenimolAlpha-enolasesmall moleculeapproved|investigational

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RelatedDiseases for EXOSC6_ENO1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneENO1C0001418Adenocarcinoma1CTD_human
TgeneENO1C0002395Alzheimer's Disease1CTD_human
TgeneENO1C0003873Rheumatoid Arthritis1CTD_human
TgeneENO1C0007131Non-Small Cell Lung Carcinoma1CTD_human
TgeneENO1C0007137Squamous cell carcinoma1CTD_human
TgeneENO1C0014859Esophageal Neoplasms1CTD_human
TgeneENO1C0021364Male infertility1CTD_human
TgeneENO1C0024667Animal Mammary Neoplasms1CTD_human
TgeneENO1C0024668Mammary Neoplasms, Experimental1CTD_human
TgeneENO1C0026640Mouth Neoplasms1CTD_human
TgeneENO1C0027626Neoplasm Invasiveness1CTD_human
TgeneENO1C0029408Degenerative polyarthritis1CTD_human
TgeneENO1C0029456Osteoporosis1CTD_human
TgeneENO1C0036341Schizophrenia1PSYGENET
TgeneENO1C0038356Stomach Neoplasms1CTD_human
TgeneENO1C0152013Adenocarcinoma of lung (disorder)1CTD_human
TgeneENO1C0520459Necrotizing Enterocolitis1CTD_human
TgeneENO1C0948089Acute Coronary Syndrome1CTD_human
TgeneENO1C1458155Mammary Neoplasms1CTD_human
TgeneENO1C2239176Liver carcinoma1CTD_human
TgeneENO1C4277682Chemical and Drug Induced Liver Injury1CTD_human