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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: 11521

FusionGeneSummary for EMC1_UBR4

check button Fusion gene summary
Fusion gene informationFusion gene name: EMC1_UBR4
Fusion gene ID: 11521
HgeneTgene
Gene symbol

EMC1

UBR4

Gene ID

23065

23352

Gene nameER membrane protein complex subunit 1ubiquitin protein ligase E3 component n-recognin 4
SynonymsCAVIPMR|KIAA0090RBAF600|ZUBR1|p600
Cytomap

1p36.13

1p36.13

Type of geneprotein-codingprotein-coding
DescriptionER membrane protein complex subunit 1E3 ubiquitin-protein ligase UBR4N-recognin-4RING-type E3 ubiquitin transferase UBR4retinoblastoma-associated factor 600-like proteinretinoblastoma-associated factor of 600 kDazinc finger UBR1-type protein 1
Modification date2018052320180523
UniProtAcc

Q8N766

Q5T4S7

Ensembl transtripts involved in fusion geneENST00000477853, ENST00000480380, 
ENST00000375199, ENST00000375208, 
ENST00000356068, 
ENST00000375217, 
ENST00000375226, ENST00000375267, 
ENST00000375254, ENST00000375225, 
ENST00000429347, ENST00000375224, 
ENST00000543981, ENST00000467272, 
ENST00000375218, 
Fusion gene scores* DoF score3 X 3 X 2=189 X 10 X 4=360
# samples 410
** MAII scorelog2(4/18*10)=1.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(10/360*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EMC1 [Title/Abstract] AND UBR4 [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
TgeneUBR4

GO:0006511

ubiquitin-dependent protein catabolic process

23932781


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
TCGALDLIHCTCGA-BC-4073-01BEMC1chr1

19571400

-UBR4chr1

19451184

-
* 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
Frame-shiftENST00000477853ENST00000375217EMC1chr1

19571400

-UBR4chr1

19451184

-
Frame-shiftENST00000477853ENST00000375226EMC1chr1

19571400

-UBR4chr1

19451184

-
Frame-shiftENST00000477853ENST00000375267EMC1chr1

19571400

-UBR4chr1

19451184

-
Frame-shiftENST00000477853ENST00000375254EMC1chr1

19571400

-UBR4chr1

19451184

-
5CDS-intronENST00000477853ENST00000375225EMC1chr1

19571400

-UBR4chr1

19451184

-
5CDS-intronENST00000477853ENST00000429347EMC1chr1

19571400

-UBR4chr1

19451184

-
5CDS-intronENST00000477853ENST00000375224EMC1chr1

19571400

-UBR4chr1

19451184

-
5CDS-intronENST00000477853ENST00000543981EMC1chr1

19571400

-UBR4chr1

19451184

-
5CDS-intronENST00000477853ENST00000467272EMC1chr1

19571400

-UBR4chr1

19451184

-
5CDS-intronENST00000477853ENST00000375218EMC1chr1

19571400

-UBR4chr1

19451184

-
intron-3CDSENST00000480380ENST00000375217EMC1chr1

19571400

-UBR4chr1

19451184

-
intron-3CDSENST00000480380ENST00000375226EMC1chr1

19571400

-UBR4chr1

19451184

-
intron-3CDSENST00000480380ENST00000375267EMC1chr1

19571400

-UBR4chr1

19451184

-
intron-3CDSENST00000480380ENST00000375254EMC1chr1

19571400

-UBR4chr1

19451184

-
intron-intronENST00000480380ENST00000375225EMC1chr1

19571400

-UBR4chr1

19451184

-
intron-intronENST00000480380ENST00000429347EMC1chr1

19571400

-UBR4chr1

19451184

-
intron-intronENST00000480380ENST00000375224EMC1chr1

19571400

-UBR4chr1

19451184

-
intron-intronENST00000480380ENST00000543981EMC1chr1

19571400

-UBR4chr1

19451184

-
intron-intronENST00000480380ENST00000467272EMC1chr1

19571400

-UBR4chr1

19451184

-
intron-intronENST00000480380ENST00000375218EMC1chr1

19571400

-UBR4chr1

19451184

-
Frame-shiftENST00000375199ENST00000375217EMC1chr1

19571400

-UBR4chr1

19451184

-
Frame-shiftENST00000375199ENST00000375226EMC1chr1

19571400

-UBR4chr1

19451184

-
Frame-shiftENST00000375199ENST00000375267EMC1chr1

19571400

-UBR4chr1

19451184

-
Frame-shiftENST00000375199ENST00000375254EMC1chr1

19571400

-UBR4chr1

19451184

-
5CDS-intronENST00000375199ENST00000375225EMC1chr1

19571400

-UBR4chr1

19451184

-
5CDS-intronENST00000375199ENST00000429347EMC1chr1

19571400

-UBR4chr1

19451184

-
5CDS-intronENST00000375199ENST00000375224EMC1chr1

19571400

-UBR4chr1

19451184

-
5CDS-intronENST00000375199ENST00000543981EMC1chr1

19571400

-UBR4chr1

19451184

-
5CDS-intronENST00000375199ENST00000467272EMC1chr1

19571400

-UBR4chr1

19451184

-
5CDS-intronENST00000375199ENST00000375218EMC1chr1

19571400

-UBR4chr1

19451184

-
Frame-shiftENST00000375208ENST00000375217EMC1chr1

19571400

-UBR4chr1

19451184

-
Frame-shiftENST00000375208ENST00000375226EMC1chr1

19571400

-UBR4chr1

19451184

-
Frame-shiftENST00000375208ENST00000375267EMC1chr1

19571400

-UBR4chr1

19451184

-
Frame-shiftENST00000375208ENST00000375254EMC1chr1

19571400

-UBR4chr1

19451184

-
5CDS-intronENST00000375208ENST00000375225EMC1chr1

19571400

-UBR4chr1

19451184

-
5CDS-intronENST00000375208ENST00000429347EMC1chr1

19571400

-UBR4chr1

19451184

-
5CDS-intronENST00000375208ENST00000375224EMC1chr1

19571400

-UBR4chr1

19451184

-
5CDS-intronENST00000375208ENST00000543981EMC1chr1

19571400

-UBR4chr1

19451184

-
5CDS-intronENST00000375208ENST00000467272EMC1chr1

19571400

-UBR4chr1

19451184

-
5CDS-intronENST00000375208ENST00000375218EMC1chr1

19571400

-UBR4chr1

19451184

-
intron-3CDSENST00000356068ENST00000375217EMC1chr1

19571400

-UBR4chr1

19451184

-
intron-3CDSENST00000356068ENST00000375226EMC1chr1

19571400

-UBR4chr1

19451184

-
intron-3CDSENST00000356068ENST00000375267EMC1chr1

19571400

-UBR4chr1

19451184

-
intron-3CDSENST00000356068ENST00000375254EMC1chr1

19571400

-UBR4chr1

19451184

-
intron-intronENST00000356068ENST00000375225EMC1chr1

19571400

-UBR4chr1

19451184

-
intron-intronENST00000356068ENST00000429347EMC1chr1

19571400

-UBR4chr1

19451184

-
intron-intronENST00000356068ENST00000375224EMC1chr1

19571400

-UBR4chr1

19451184

-
intron-intronENST00000356068ENST00000543981EMC1chr1

19571400

-UBR4chr1

19451184

-
intron-intronENST00000356068ENST00000467272EMC1chr1

19571400

-UBR4chr1

19451184

-
intron-intronENST00000356068ENST00000375218EMC1chr1

19571400

-UBR4chr1

19451184

-

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FusionProtFeatures for EMC1_UBR4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EMC1

Q8N766

UBR4

Q5T4S7


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 EMC1_UBR4


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 EMC1_UBR4


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
EMC1TSC22D1, CUL3, FBXO6, ILF3, CALU, ILF2, FLOT1, CUL7, EMC7, EMC8, DERL1, DERL2, ENO1, EMC2, CANX, EMC3, MMGT1, UBAC2, VDAC2, EMC4, ATP1B3, ATP1B4, P2RX4, ZACN, NTRK1, TCTN2, TCTN3, TMEM237, TCTN1, TMEM17, TMEM216, TMEM67, FAF2, CTDNEP1, TPTE, EMC9, EPHA7, EDEM3UBR4MCRS1, UBC, UBXN7, FAF2, FAF1, UBXN1, SRGN, RAD23A, SIRT7, RB1, GRB2, USP9X, SNRNP200, HSPD1, ZEB1, VIM, EFTUD2, VCP, VCAM1, PRPF40A, ITGA4, BIRC2, BIRC3, SOX2, FLNB, LARS, MOB4, PSMC5, PSMC6, KIAA0368, KCMF1, PSMD13, SHFM1, EGFR, STAT2, AURKB, CDKN1A, CEP57, CEP250, TP53, TUBGCP3, ACLY, SHMT2, MOV10, NXF1, PSMD14, CFC1, SPATA1, PRMT6, FIGF, TFDP3, POGLUT1, EDA, EMID1, CHIA, CD96, PNPLA1, CSHL1, CST9, UBE2A, UBE2B, AAR2, DDX46, EIF5B, SBNO1, RANGAP1, SART3, SRPK2, SASS6, NCK1, RAP1B, XRCC3, USF1, FOXK1, FOXK2, MCM2, POU5F1, DPF3, PI4KA, METTL2A, FSTL4, VWA5A, A1BG, POMC, INSL5, WDR34, NRP1, HYAL1, CRYL1, STX11, CPNE5, C1orf87, ERMAP, FUZ, SLX1A, FAM73B, GML, CCNG1, ACSM5, TPGS2, MTNR1A, MTNR1B, ERG, ZNHIT2, TES


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 EMC1_UBR4


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 EMC1_UBR4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEMC1C4225172CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION1UNIPROT