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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: 12077

FusionGeneSummary for ESCO1_MGRN1

check button Fusion gene summary
Fusion gene informationFusion gene name: ESCO1_MGRN1
Fusion gene ID: 12077
HgeneTgene
Gene symbol

ESCO1

MGRN1

Gene ID

114799

23295

Gene nameestablishment of sister chromatid cohesion N-acetyltransferase 1mahogunin ring finger 1
SynonymsA930014I12Rik|CTF|ECO1|EFO1|ESO1RNF156
Cytomap

18q11.2

16p13.3

Type of geneprotein-codingprotein-coding
DescriptionN-acetyltransferase ESCO1CTF7 homolog 1ECO1 homolog 1EFO1pESO1 homolog 1N-acetyltransferase ESCO1 variant 2establishment factor-like protein 1establishment of cohesion 1 homolog 1hEFO1E3 ubiquitin-protein ligase MGRN1RING finger protein 156RING-type E3 ubiquitin transferase MGRN1mahogunin RING finger protein 1mahogunin ring finger 1, E3 ubiquitin protein ligaseprobable E3 ubiquitin-protein ligase MGRN1
Modification date2018052320180519
UniProtAcc

Q5FWF5

O60291

Ensembl transtripts involved in fusion geneENST00000269214, ENST00000580101, 
ENST00000262370, ENST00000415496, 
ENST00000399577, ENST00000588994, 
ENST00000586183, ENST00000588015, 
Fusion gene scores* DoF score10 X 5 X 7=3504 X 6 X 5=120
# samples 136
** MAII scorelog2(13/350*10)=-1.42884329880387
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ESCO1 [Title/Abstract] AND MGRN1 [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
HgeneESCO1

GO:0018394

peptidyl-lysine acetylation

27112597

TgeneMGRN1

GO:0043951

negative regulation of cAMP-mediated signaling

19737927

TgeneMGRN1

GO:0045744

negative regulation of G-protein coupled receptor protein signaling pathway

19737927


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
ChiTaRS3.1BU161418ESCO1chr18

19180583

-MGRN1chr16

4700364

+
* 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-3CDSENST00000269214ENST00000262370ESCO1chr18

19180583

-MGRN1chr16

4700364

+
5UTR-3CDSENST00000269214ENST00000415496ESCO1chr18

19180583

-MGRN1chr16

4700364

+
5UTR-3CDSENST00000269214ENST00000399577ESCO1chr18

19180583

-MGRN1chr16

4700364

+
5UTR-3CDSENST00000269214ENST00000588994ESCO1chr18

19180583

-MGRN1chr16

4700364

+
5UTR-3CDSENST00000269214ENST00000586183ESCO1chr18

19180583

-MGRN1chr16

4700364

+
5UTR-intronENST00000269214ENST00000588015ESCO1chr18

19180583

-MGRN1chr16

4700364

+
5UTR-3CDSENST00000580101ENST00000262370ESCO1chr18

19180583

-MGRN1chr16

4700364

+
5UTR-3CDSENST00000580101ENST00000415496ESCO1chr18

19180583

-MGRN1chr16

4700364

+
5UTR-3CDSENST00000580101ENST00000399577ESCO1chr18

19180583

-MGRN1chr16

4700364

+
5UTR-3CDSENST00000580101ENST00000588994ESCO1chr18

19180583

-MGRN1chr16

4700364

+
5UTR-3CDSENST00000580101ENST00000586183ESCO1chr18

19180583

-MGRN1chr16

4700364

+
5UTR-intronENST00000580101ENST00000588015ESCO1chr18

19180583

-MGRN1chr16

4700364

+

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FusionProtFeatures for ESCO1_MGRN1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ESCO1

Q5FWF5

MGRN1

O60291

E3 ubiquitin-protein ligase. Mediates monoubiquitinationat multiple sites of TSG101 in the presence of UBE2D1, but not ofUBE2G1, nor UBE2H. Plays a role in the regulation of endosome-to-lysosome trafficking. Impairs MC1R- and MC4R-signaling bycompeting with GNAS-binding to MCRs and inhibiting agonist-inducedcAMP production. Does not inhibit ADRB2-signaling. Does notpromote MC1R ubiquitination. Acts also as a negative regulator ofhedgehog signaling (By similarity). {ECO:0000250|UniProtKB:Q9D074,ECO:0000269|PubMed:17229889, ECO:0000269|PubMed:19703557,ECO:0000269|PubMed:19737927}.

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 ESCO1_MGRN1


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 ESCO1_MGRN1


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
ESCO1KDM1A, HDAC1, HDAC2, HIST1H3A, EHMT2, SUV39H1, SETDB1, HECW2, CDK1, FGFR1OP, CBX8, SMC6, TRIM25MGRN1UBE2G2, TSG101, UBE2D1, UBE2D2, UBE2D3, UBE2D4, UBE2E1, UBE2I, UBE2J2, UBE2W, UBE2T, MC1R, MC4R, MC2R, MRAP, ELAVL1, FBXO6, ITCH, NEDD4, HSPA4, TRIM74, TUBA4A, ATXN3, HTT, APBB1, TAZ, ATP1B4, BTNL8, PTPRK, AMFR, DUSP6, PSG8, ANKRD46, ATRN, C9orf40, PDCD2, INTS7, C19orf52, HSDL1, MEGF8, FAM19A4, MFN1


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 ESCO1_MGRN1


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 ESCO1_MGRN1


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