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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: 41634

FusionGeneSummary for VPS54_ANKHD1

check button Fusion gene summary
Fusion gene informationFusion gene name: VPS54_ANKHD1
Fusion gene ID: 41634
HgeneTgene
Gene symbol

VPS54

ANKHD1

Gene ID

51542

54882

Gene nameVPS54, GARP complex subunitankyrin repeat and KH domain containing 1
SynonymsHCC8|PPP1R164|SLP-8p|VPS54L|WR|hVps54LMASK|MASK1|PP2500|VBARP
Cytomap

2p15-p14

5q31.3

Type of geneprotein-codingprotein-coding
Descriptionvacuolar protein sorting-associated protein 54hepatocellular carcinoma protein 8protein phosphatase 1, regulatory subunit 164tumor antigen HOM-HCC-8tumor antigen SLP-8pvacuolar protein sorting 54 homologankyrin repeat and KH domain-containing protein 1HIV-1 Vpr-binding ankyrin repeat proteinmultiple ankyrin repeats, single KH-domain homolog
Modification date2018052320180523
UniProtAcc

Q9P1Q0

Q8IWZ3

Ensembl transtripts involved in fusion geneENST00000409558, ENST00000272322, 
ENST00000354504, 		ENST00000360839, 
ENST00000297183, ENST00000394723, 
ENST00000394722, ENST00000462121, 
ENST00000544120, 
Fusion gene scores* DoF score3 X 4 X 3=368 X 11 X 3=264
# samples 511
** MAII scorelog2(5/36*10)=0.473931188332412
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(11/264*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: VPS54 [Title/Abstract] AND ANKHD1 [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
ChiTaRS3.1BF681377VPS54chr2

64148899

-ANKHD1chr5

139865905

+
* 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-intronENST00000409558ENST00000360839VPS54chr2

64148899

-ANKHD1chr5

139865905

+
intron-intronENST00000409558ENST00000297183VPS54chr2

64148899

-ANKHD1chr5

139865905

+
intron-intronENST00000409558ENST00000394723VPS54chr2

64148899

-ANKHD1chr5

139865905

+
intron-intronENST00000409558ENST00000394722VPS54chr2

64148899

-ANKHD1chr5

139865905

+
intron-intronENST00000409558ENST00000462121VPS54chr2

64148899

-ANKHD1chr5

139865905

+
intron-intronENST00000409558ENST00000544120VPS54chr2

64148899

-ANKHD1chr5

139865905

+
intron-intronENST00000272322ENST00000360839VPS54chr2

64148899

-ANKHD1chr5

139865905

+
intron-intronENST00000272322ENST00000297183VPS54chr2

64148899

-ANKHD1chr5

139865905

+
intron-intronENST00000272322ENST00000394723VPS54chr2

64148899

-ANKHD1chr5

139865905

+
intron-intronENST00000272322ENST00000394722VPS54chr2

64148899

-ANKHD1chr5

139865905

+
intron-intronENST00000272322ENST00000462121VPS54chr2

64148899

-ANKHD1chr5

139865905

+
intron-intronENST00000272322ENST00000544120VPS54chr2

64148899

-ANKHD1chr5

139865905

+
intron-intronENST00000354504ENST00000360839VPS54chr2

64148899

-ANKHD1chr5

139865905

+
intron-intronENST00000354504ENST00000297183VPS54chr2

64148899

-ANKHD1chr5

139865905

+
intron-intronENST00000354504ENST00000394723VPS54chr2

64148899

-ANKHD1chr5

139865905

+
intron-intronENST00000354504ENST00000394722VPS54chr2

64148899

-ANKHD1chr5

139865905

+
intron-intronENST00000354504ENST00000462121VPS54chr2

64148899

-ANKHD1chr5

139865905

+
intron-intronENST00000354504ENST00000544120VPS54chr2

64148899

-ANKHD1chr5

139865905

+

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FusionProtFeatures for VPS54_ANKHD1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
VPS54

Q9P1Q0

ANKHD1

Q8IWZ3

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 VPS54_ANKHD1


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 VPS54_ANKHD1


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 VPS54_ANKHD1


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 VPS54_ANKHD1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneVPS54C0027746Nerve Degeneration1CTD_human