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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: 11567

FusionGeneSummary for EML4_VPS54

check button Fusion gene summary
Fusion gene informationFusion gene name: EML4_VPS54
Fusion gene ID: 11567
HgeneTgene
Gene symbol

EML4

VPS54

Gene ID

27436

51542

Gene nameechinoderm microtubule associated protein like 4VPS54, GARP complex subunit
SynonymsC2orf2|ELP120|EMAP-4|EMAPL4|ROPP120HCC8|PPP1R164|SLP-8p|VPS54L|WR|hVps54L
Cytomap

2p21

2p15-p14

Type of geneprotein-codingprotein-coding
Descriptionechinoderm microtubule-associated protein-like 4restrictedly overexpressed proliferation-associated proteinropp 120vacuolar protein sorting-associated protein 54hepatocellular carcinoma protein 8protein phosphatase 1, regulatory subunit 164tumor antigen HOM-HCC-8tumor antigen SLP-8pvacuolar protein sorting 54 homolog
Modification date2018052320180523
UniProtAcc

Q9HC35

Q9P1Q0

Ensembl transtripts involved in fusion geneENST00000318522, ENST00000402711, 
ENST00000482660, ENST00000401738, 
ENST00000453191, 
ENST00000409558, 
ENST00000272322, ENST00000354504, 
Fusion gene scores* DoF score9 X 17 X 13=19895 X 5 X 4=100
# samples 275
** MAII scorelog2(27/1989*10)=-2.88101196378291
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EML4 [Title/Abstract] AND VPS54 [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

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
TCGARVLIHCTCGA-BC-A69I-01AEML4chr2

42531691

+VPS54chr2

64120669

-
* 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-shiftENST00000318522ENST00000409558EML4chr2

42531691

+VPS54chr2

64120669

-
Frame-shiftENST00000318522ENST00000272322EML4chr2

42531691

+VPS54chr2

64120669

-
Frame-shiftENST00000318522ENST00000354504EML4chr2

42531691

+VPS54chr2

64120669

-
Frame-shiftENST00000402711ENST00000409558EML4chr2

42531691

+VPS54chr2

64120669

-
Frame-shiftENST00000402711ENST00000272322EML4chr2

42531691

+VPS54chr2

64120669

-
Frame-shiftENST00000402711ENST00000354504EML4chr2

42531691

+VPS54chr2

64120669

-
intron-3CDSENST00000482660ENST00000409558EML4chr2

42531691

+VPS54chr2

64120669

-
intron-3CDSENST00000482660ENST00000272322EML4chr2

42531691

+VPS54chr2

64120669

-
intron-3CDSENST00000482660ENST00000354504EML4chr2

42531691

+VPS54chr2

64120669

-
Frame-shiftENST00000401738ENST00000409558EML4chr2

42531691

+VPS54chr2

64120669

-
Frame-shiftENST00000401738ENST00000272322EML4chr2

42531691

+VPS54chr2

64120669

-
Frame-shiftENST00000401738ENST00000354504EML4chr2

42531691

+VPS54chr2

64120669

-
5UTR-3CDSENST00000453191ENST00000409558EML4chr2

42531691

+VPS54chr2

64120669

-
5UTR-3CDSENST00000453191ENST00000272322EML4chr2

42531691

+VPS54chr2

64120669

-
5UTR-3CDSENST00000453191ENST00000354504EML4chr2

42531691

+VPS54chr2

64120669

-

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FusionProtFeatures for EML4_VPS54


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EML4

Q9HC35

VPS54

Q9P1Q0

Acts as component of the GARP complex that is involvedin retrograde transport from early and late endosomes to thetrans-Golgi network (TGN). The GARP complex is required for themaintenance of the cycling of mannose 6-phosphate receptorsbetween the TGN and endosomes, this cycling is necessary forproper lysosomal sorting of acid hydrolases such as CTSD(PubMed:18367545). Within the GARP complex, required to tether thecomplex to the TGN. Not involved in endocytic recycling(PubMed:25799061). {ECO:0000269|PubMed:18367545,ECO:0000269|PubMed:25799061}.

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 EML4_VPS54


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 EML4_VPS54


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
EML4NEK6, ARL4D, ARIH2, ELAVL1, EML4, ILK, PRPS1, TUBB2A, TUBB2B, FBXW11, NTRK1, SPICE1, DCTN1, TFEB, NUDC, EML1, FBXO28, TUBB3, CTAGE5, TUBB, TKT, PHKG2, NEK7VPS54VPS52, VPS53, VPS51, STX6, CCDC132, TSSC1, SYN1, C10orf76, PTAR1, RAB1A, RAB1B


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 EML4_VPS54


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 EML4_VPS54


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEML4C0007131Non-Small Cell Lung Carcinoma6CTD_human
HgeneEML4C0027627Neoplasm Metastasis2CTD_human
HgeneEML4C0152013Adenocarcinoma of lung (disorder)2CTD_human
HgeneEML4C0006118Brain Neoplasms1CTD_human
TgeneVPS54C0027746Nerve Degeneration1CTD_human