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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: 10950

FusionGeneSummary for EEA1_WDR61

check button Fusion gene summary
Fusion gene informationFusion gene name: EEA1_WDR61
Fusion gene ID: 10950
HgeneTgene
Gene symbol

EEA1

WDR61

Gene ID

8411

80349

Gene nameearly endosome antigen 1WD repeat domain 61
SynonymsMST105|MSTP105|ZFYVE2REC14|SKI8
Cytomap

12q22

15q25.1

Type of geneprotein-codingprotein-coding
Descriptionearly endosome antigen 1early endosome antigen 1, 162kDearly endosome-associated proteinendosome-associated protein p162zinc finger FYVE domain-containing protein 2WD repeat-containing protein 61SKI8 homologmeiotic recombination REC14 protein homologrecombination protein REC14
Modification date2018052220180519
UniProtAcc

Q15075

Q9GZS3

Ensembl transtripts involved in fusion geneENST00000322349, ENST00000547833, 
ENST00000559332, ENST00000558311, 
ENST00000267973, ENST00000558459, 
Fusion gene scores* DoF score10 X 6 X 8=4803 X 3 X 2=18
# samples 125
** MAII scorelog2(12/480*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/18*10)=1.47393118833241
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: EEA1 [Title/Abstract] AND WDR61 [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
TgeneWDR61

GO:0032968

positive regulation of transcription elongation from RNA polymerase II promoter

20178742

TgeneWDR61

GO:0045638

negative regulation of myeloid cell differentiation

20541477

TgeneWDR61

GO:0045944

positive regulation of transcription by RNA polymerase II

20178742


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
ChiTaRS3.1BF817903EEA1chr12

93171845

-WDR61chr15

78582886

-
ChiTaRS3.1BQ325124EEA1chr12

93171845

-WDR61chr15

78582886

-
* 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-intronENST00000322349ENST00000559332EEA1chr12

93171845

-WDR61chr15

78582886

-
intron-intronENST00000322349ENST00000558311EEA1chr12

93171845

-WDR61chr15

78582886

-
intron-intronENST00000322349ENST00000267973EEA1chr12

93171845

-WDR61chr15

78582886

-
intron-intronENST00000322349ENST00000558459EEA1chr12

93171845

-WDR61chr15

78582886

-
intron-intronENST00000547833ENST00000559332EEA1chr12

93171845

-WDR61chr15

78582886

-
intron-intronENST00000547833ENST00000558311EEA1chr12

93171845

-WDR61chr15

78582886

-
intron-intronENST00000547833ENST00000267973EEA1chr12

93171845

-WDR61chr15

78582886

-
intron-intronENST00000547833ENST00000558459EEA1chr12

93171845

-WDR61chr15

78582886

-

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FusionProtFeatures for EEA1_WDR61


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EEA1

Q15075

WDR61

Q9GZS3

Binds phospholipid vesicles containingphosphatidylinositol 3-phosphate and participates in endosomaltrafficking. Component of the PAF1 complex (PAF1C) which has multiplefunctions during transcription by RNA polymerase II and isimplicated in regulation of development and maintenance ofembryonic stem cell pluripotency. PAF1C associates with RNApolymerase II through interaction with POLR2A CTD non-phosphorylated and 'Ser-2'- and 'Ser-5'-phosphorylated forms andis involved in transcriptional elongation, acting bothindepentently and synergistically with TCEA1 and in cooperationwith the DSIF complex and HTATSF1. PAF1C is required fortranscription of Hox and Wnt target genes. PAF1C is involved inhematopoiesis and stimulates transcriptional activity ofKMT2A/MLL1; it promotes leukemogenesis through association withKMT2A/MLL1-rearranged oncoproteins, such as KMT2A/MLL1-MLLT3/AF9and KMT2A/MLL1-MLLT1/ENL. PAF1C is involved in histonemodifications such as ubiquitination of histone H2B andmethylation on histone H3 'Lys-4' (H3K4me3). PAF1C recruits theRNF20/40 E3 ubiquitin-protein ligase complex and the E2 enzymeUBE2A or UBE2B to chromatin which mediate monoubiquitination of'Lys-120' of histone H2B (H2BK120ub1); UB2A/B-mediated H2Bubiquitination is proposed to be coupled to transcription. PAF1Cis involved in mRNA 3' end formation probably through associationwith cleavage and poly(A) factors. In case of infection byinfluenza A strain H3N2, PAF1C associates with viral NS1 protein,thereby regulating gene transcription. Required for mono- andtrimethylation on histone H3 'Lys-4' (H3K4me3), dimethylation onhistone H3 'Lys-79' (H3K4me3). Required for Hox genetranscription. Component of the SKI complex which is thought to beinvolved in exosome-mediated RNA decay and associates withtranscriptionally active genes in a manner dependent on PAF1C.{ECO:0000269|PubMed:16024656, ECO:0000269|PubMed:16307923,ECO:0000269|PubMed:19952111, ECO:0000269|PubMed:20178742}.

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 EEA1_WDR61


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 EEA1_WDR61


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 EEA1_WDR61


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 EEA1_WDR61


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