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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: 41804

FusionGeneSummary for WDR12_VPS52

check button Fusion gene summary
Fusion gene informationFusion gene name: WDR12_VPS52
Fusion gene ID: 41804
HgeneTgene
Gene symbol

WDR12

VPS52

Gene ID

55759

6293

Gene nameWD repeat domain 12VPS52, GARP complex subunit
SynonymsYTM1ARE1|SAC2|SACM2L|dJ1033B10.5
Cytomap

2q33.2

6p21.32

Type of geneprotein-codingprotein-coding
Descriptionribosome biogenesis protein WDR12WD repeat-containing protein 12vacuolar protein sorting-associated protein 52 homologSAC2 suppressor of actin mutations 2-like proteinvacuolar protein sorting 52 homolog
Modification date2018052320180523
UniProtAcc

Q9GZL7

Q8N1B4

Ensembl transtripts involved in fusion geneENST00000477723, ENST00000261015, 
ENST00000482399, ENST00000445902, 
ENST00000478934, ENST00000436044, 
ENST00000448042, ENST00000488583, 
ENST00000441058, ENST00000471761, 
ENST00000443860, ENST00000483351, 
ENST00000383210, ENST00000489236, 
ENST00000485418, ENST00000421357, 
ENST00000428608, ENST00000484649, 
Fusion gene scores* DoF score2 X 2 X 2=84 X 4 X 3=48
# samples 24
** MAII scorelog2(2/8*10)=1.32192809488736log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: WDR12 [Title/Abstract] AND VPS52 [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
TgeneVPS52

GO:0007041

lysosomal transport

25799061


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
ChiTaRS3.1BM827819WDR12chr2

203776187

-VPS52chr6

4719526

-
* 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-intronENST00000477723ENST00000482399WDR12chr2

203776187

-VPS52chr6

4719526

-
intron-intronENST00000477723ENST00000445902WDR12chr2

203776187

-VPS52chr6

4719526

-
intron-intronENST00000477723ENST00000478934WDR12chr2

203776187

-VPS52chr6

4719526

-
intron-intronENST00000477723ENST00000436044WDR12chr2

203776187

-VPS52chr6

4719526

-
intron-intronENST00000477723ENST00000448042WDR12chr2

203776187

-VPS52chr6

4719526

-
intron-intronENST00000477723ENST00000488583WDR12chr2

203776187

-VPS52chr6

4719526

-
intron-intronENST00000477723ENST00000441058WDR12chr2

203776187

-VPS52chr6

4719526

-
intron-intronENST00000477723ENST00000471761WDR12chr2

203776187

-VPS52chr6

4719526

-
intron-intronENST00000477723ENST00000443860WDR12chr2

203776187

-VPS52chr6

4719526

-
intron-intronENST00000477723ENST00000483351WDR12chr2

203776187

-VPS52chr6

4719526

-
intron-intronENST00000477723ENST00000383210WDR12chr2

203776187

-VPS52chr6

4719526

-
intron-intronENST00000477723ENST00000489236WDR12chr2

203776187

-VPS52chr6

4719526

-
intron-intronENST00000477723ENST00000485418WDR12chr2

203776187

-VPS52chr6

4719526

-
intron-intronENST00000477723ENST00000421357WDR12chr2

203776187

-VPS52chr6

4719526

-
intron-intronENST00000477723ENST00000428608WDR12chr2

203776187

-VPS52chr6

4719526

-
intron-intronENST00000477723ENST00000484649WDR12chr2

203776187

-VPS52chr6

4719526

-
intron-intronENST00000261015ENST00000482399WDR12chr2

203776187

-VPS52chr6

4719526

-
intron-intronENST00000261015ENST00000445902WDR12chr2

203776187

-VPS52chr6

4719526

-
intron-intronENST00000261015ENST00000478934WDR12chr2

203776187

-VPS52chr6

4719526

-
intron-intronENST00000261015ENST00000436044WDR12chr2

203776187

-VPS52chr6

4719526

-
intron-intronENST00000261015ENST00000448042WDR12chr2

203776187

-VPS52chr6

4719526

-
intron-intronENST00000261015ENST00000488583WDR12chr2

203776187

-VPS52chr6

4719526

-
intron-intronENST00000261015ENST00000441058WDR12chr2

203776187

-VPS52chr6

4719526

-
intron-intronENST00000261015ENST00000471761WDR12chr2

203776187

-VPS52chr6

4719526

-
intron-intronENST00000261015ENST00000443860WDR12chr2

203776187

-VPS52chr6

4719526

-
intron-intronENST00000261015ENST00000483351WDR12chr2

203776187

-VPS52chr6

4719526

-
intron-intronENST00000261015ENST00000383210WDR12chr2

203776187

-VPS52chr6

4719526

-
intron-intronENST00000261015ENST00000489236WDR12chr2

203776187

-VPS52chr6

4719526

-
intron-intronENST00000261015ENST00000485418WDR12chr2

203776187

-VPS52chr6

4719526

-
intron-intronENST00000261015ENST00000421357WDR12chr2

203776187

-VPS52chr6

4719526

-
intron-intronENST00000261015ENST00000428608WDR12chr2

203776187

-VPS52chr6

4719526

-
intron-intronENST00000261015ENST00000484649WDR12chr2

203776187

-VPS52chr6

4719526

-

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FusionProtFeatures for WDR12_VPS52


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
WDR12

Q9GZL7

VPS52

Q8N1B4

Component of the PeBoW complex, which is required formaturation of 28S and 5.8S ribosomal RNAs and formation of the 60Sribosome. {ECO:0000255|HAMAP-Rule:MF_03029,ECO:0000269|PubMed:16043514, ECO:0000269|PubMed:17353269}.

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 WDR12_VPS52


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 WDR12_VPS52


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 WDR12_VPS52


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 WDR12_VPS52


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneWDR12C0027051Myocardial Infarction2CTD_human
HgeneWDR12C0007193Cardiomyopathy, Dilated1CTD_human
HgeneWDR12C1956346Coronary Artery Disease1CTD_human
TgeneVPS52C0033578Prostatic Neoplasms1CTD_human