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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: 2046

FusionGeneSummary for AP1S3_PDSS2

check button Fusion gene summary
Fusion gene informationFusion gene name: AP1S3_PDSS2
Fusion gene ID: 2046
HgeneTgene
Gene symbol

AP1S3

PDSS2

Gene ID

130340

57107

Gene nameadaptor related protein complex 1 subunit sigma 3decaprenyl diphosphate synthase subunit 2
SynonymsPSORS15C6orf210|COQ10D3|DLP1|bA59I9.3|hDLP1
Cytomap

2q36.1

6q21

Type of geneprotein-codingprotein-coding
DescriptionAP-1 complex subunit sigma-3adapter-related protein complex 1 subunit sigma-1Cadaptor protein complex AP-1 sigma-1C subunitadaptor related protein complex 1 sigma 3 subunitadaptor-related protein complex 1 subunit sigma-1Cclathrin assembly protein codecaprenyl-diphosphate synthase subunit 2all-trans-decaprenyl-diphosphate synthase subunit 2decaprenyl pyrophosphate synthase subunit 2decaprenyl pyrophosphate synthetase subunit 2prenyl (decaprenyl) diphosphate synthase, subunit 2subunit 2 of decapr
Modification date2018051920180527
UniProtAcc

Q96PC3

Q86YH6

Ensembl transtripts involved in fusion geneENST00000443700, ENST00000396654, 
ENST00000396653, ENST00000446015, 
ENST00000409375, ENST00000423110, 
ENST00000369037, ENST00000453874, 
ENST00000369031, 
Fusion gene scores* DoF score1 X 1 X 1=17 X 5 X 6=210
# samples 18
** MAII scorelog2(1/1*10)=3.32192809488736log2(8/210*10)=-1.39231742277876
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AP1S3 [Title/Abstract] AND PDSS2 [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
TgenePDSS2

GO:0006744

ubiquinone biosynthetic process

16262699

TgenePDSS2

GO:0008299

isoprenoid biosynthetic process

16262699


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
ChiTaRS3.1BU165869AP1S3chr2

224622425

-PDSS2chr6

107475040

-
* 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-3UTRENST00000443700ENST00000369037AP1S3chr2

224622425

-PDSS2chr6

107475040

-
intron-intronENST00000443700ENST00000453874AP1S3chr2

224622425

-PDSS2chr6

107475040

-
intron-intronENST00000443700ENST00000369031AP1S3chr2

224622425

-PDSS2chr6

107475040

-
intron-3UTRENST00000396654ENST00000369037AP1S3chr2

224622425

-PDSS2chr6

107475040

-
intron-intronENST00000396654ENST00000453874AP1S3chr2

224622425

-PDSS2chr6

107475040

-
intron-intronENST00000396654ENST00000369031AP1S3chr2

224622425

-PDSS2chr6

107475040

-
intron-3UTRENST00000396653ENST00000369037AP1S3chr2

224622425

-PDSS2chr6

107475040

-
intron-intronENST00000396653ENST00000453874AP1S3chr2

224622425

-PDSS2chr6

107475040

-
intron-intronENST00000396653ENST00000369031AP1S3chr2

224622425

-PDSS2chr6

107475040

-
intron-3UTRENST00000446015ENST00000369037AP1S3chr2

224622425

-PDSS2chr6

107475040

-
intron-intronENST00000446015ENST00000453874AP1S3chr2

224622425

-PDSS2chr6

107475040

-
intron-intronENST00000446015ENST00000369031AP1S3chr2

224622425

-PDSS2chr6

107475040

-
intron-3UTRENST00000409375ENST00000369037AP1S3chr2

224622425

-PDSS2chr6

107475040

-
intron-intronENST00000409375ENST00000453874AP1S3chr2

224622425

-PDSS2chr6

107475040

-
intron-intronENST00000409375ENST00000369031AP1S3chr2

224622425

-PDSS2chr6

107475040

-
intron-3UTRENST00000423110ENST00000369037AP1S3chr2

224622425

-PDSS2chr6

107475040

-
intron-intronENST00000423110ENST00000453874AP1S3chr2

224622425

-PDSS2chr6

107475040

-
intron-intronENST00000423110ENST00000369031AP1S3chr2

224622425

-PDSS2chr6

107475040

-

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FusionProtFeatures for AP1S3_PDSS2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
AP1S3

Q96PC3

PDSS2

Q86YH6

Subunit of clathrin-associated adaptor protein complex 1that plays a role in protein sorting in the late-Golgi/trans-Golginetwork (TGN) and/or endosomes. The AP complexes mediate both therecruitment of clathrin to membranes and the recognition ofsorting signals within the cytosolic tails of transmembrane cargomolecules. Involved in TLR3 trafficking (PubMed:24791904).{ECO:0000269|PubMed:24791904}. Supplies decaprenyl diphosphate, the precursor for theside chain of the isoprenoid quinones ubiquinone-10.{ECO:0000269|PubMed:16262699}.

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 AP1S3_PDSS2


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 AP1S3_PDSS2


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 AP1S3_PDSS2


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 AP1S3_PDSS2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAP1S3C4015235PSORIASIS 15, PUSTULAR, SUSCEPTIBILITY TO1UNIPROT
TgenePDSS2C3553358COENZYME Q10 DEFICIENCY, PRIMARY, 31UNIPROT