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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: 29116

FusionGeneSummary for PSMA6_SNX6

check button Fusion gene summary
Fusion gene informationFusion gene name: PSMA6_SNX6
Fusion gene ID: 29116
HgeneTgene
Gene symbol

PSMA6

SNX6

Gene ID

5687

58533

Gene nameproteasome subunit alpha 6sorting nexin 6
SynonymsIOTA|PROS27|p27KMSTP010|TFAF2
Cytomap

14q13.2

14q13.1

Type of geneprotein-codingprotein-coding
Descriptionproteasome subunit alpha type-627 kDa prosomal proteinPROS-27macropain iota chainmacropain subunit iotamulticatalytic endopeptidase complex iota chainprosomal P27K proteinproteasome (prosome, macropain) subunit, alpha type, 6proteasome iota chainsorting nexin-6TRAF4-associated factor 2tumor necrosis factor receptor-associated factor 4(TRAF4)-associated factor 2
Modification date2018052320180522
UniProtAcc

P60900

Q9UNH7

Ensembl transtripts involved in fusion geneENST00000540871, ENST00000261479, 
ENST00000553809, ENST00000555764, 
ENST00000556506, 
ENST00000396526, 
ENST00000396534, ENST00000362031, 
ENST00000355110, 
Fusion gene scores* DoF score3 X 2 X 3=184 X 4 X 4=64
# samples 34
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(4/64*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PSMA6 [Title/Abstract] AND SNX6 [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
TgeneSNX6

GO:0030512

negative regulation of transforming growth factor beta receptor signaling pathway

11279102

TgeneSNX6

GO:0045892

negative regulation of transcription, DNA-templated

11279102|20830743


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
TCGALDCESCTCGA-VS-A9UP-01APSMA6chr14

35761758

+SNX6chr14

35072677

-
* 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-3CDSENST00000540871ENST00000396526PSMA6chr14

35761758

+SNX6chr14

35072677

-
intron-3CDSENST00000540871ENST00000396534PSMA6chr14

35761758

+SNX6chr14

35072677

-
intron-3CDSENST00000540871ENST00000362031PSMA6chr14

35761758

+SNX6chr14

35072677

-
intron-3CDSENST00000540871ENST00000355110PSMA6chr14

35761758

+SNX6chr14

35072677

-
Frame-shiftENST00000261479ENST00000396526PSMA6chr14

35761758

+SNX6chr14

35072677

-
Frame-shiftENST00000261479ENST00000396534PSMA6chr14

35761758

+SNX6chr14

35072677

-
Frame-shiftENST00000261479ENST00000362031PSMA6chr14

35761758

+SNX6chr14

35072677

-
Frame-shiftENST00000261479ENST00000355110PSMA6chr14

35761758

+SNX6chr14

35072677

-
Frame-shiftENST00000553809ENST00000396526PSMA6chr14

35761758

+SNX6chr14

35072677

-
Frame-shiftENST00000553809ENST00000396534PSMA6chr14

35761758

+SNX6chr14

35072677

-
Frame-shiftENST00000553809ENST00000362031PSMA6chr14

35761758

+SNX6chr14

35072677

-
Frame-shiftENST00000553809ENST00000355110PSMA6chr14

35761758

+SNX6chr14

35072677

-
5UTR-3CDSENST00000555764ENST00000396526PSMA6chr14

35761758

+SNX6chr14

35072677

-
5UTR-3CDSENST00000555764ENST00000396534PSMA6chr14

35761758

+SNX6chr14

35072677

-
5UTR-3CDSENST00000555764ENST00000362031PSMA6chr14

35761758

+SNX6chr14

35072677

-
5UTR-3CDSENST00000555764ENST00000355110PSMA6chr14

35761758

+SNX6chr14

35072677

-
Frame-shiftENST00000556506ENST00000396526PSMA6chr14

35761758

+SNX6chr14

35072677

-
Frame-shiftENST00000556506ENST00000396534PSMA6chr14

35761758

+SNX6chr14

35072677

-
Frame-shiftENST00000556506ENST00000362031PSMA6chr14

35761758

+SNX6chr14

35072677

-
Frame-shiftENST00000556506ENST00000355110PSMA6chr14

35761758

+SNX6chr14

35072677

-

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FusionProtFeatures for PSMA6_SNX6


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PSMA6

P60900

SNX6

Q9UNH7

Component of the 20S core proteasome complex involved inthe proteolytic degradation of most intracellular proteins. Thiscomplex plays numerous essential roles within the cell byassociating with different regulatory particles. Associated withtwo 19S regulatory particles, forms the 26S proteasome and thusparticipates in the ATP-dependent degradation of ubiquitinatedproteins. The 26S proteasome plays a key role in the maintenanceof protein homeostasis by removing misfolded or damaged proteinsthat could impair cellular functions, and by removing proteinswhose functions are no longer required. Associated with the PA200or PA28, the 20S proteasome mediates ubiquitin-independent proteindegradation. This type of proteolysis is required in severalpathways including spermatogenesis (20S-PA200 complex) orgeneration of a subset of MHC class I-presented antigenic peptides(20S-PA28 complex). {ECO:0000269|PubMed:15244466,ECO:0000269|PubMed:27176742, ECO:0000269|PubMed:8610016}. Involved in several stages of intracellular trafficking.Interacts with membranes phosphatidylinositol 3,4-bisphosphateand/or phosphatidylinositol 4,5-bisphosphate (Probable). Acts inpart as component of the retromer membrane-deforming SNX-BARsubcomplex (PubMed:19935774). The SNX-BAR retromer mediatesretrograde transport of cargo proteins from endosomes to thetrans-Golgi network (TGN) and is involved in endosome-to-plasmamembrane transport for cargo protein recycling. The SNX-BARsubcomplex functions to deform the donor membrane into a tubularprofile called endosome-to-TGN transport carrier (ETC) (Probable).Does not have in vitro vesicle-to-membrane remodeling activity(PubMed:23085988). Involved in retrograde endosome-to-TGNtransport of lysosomal enzyme receptor IGF2R (PubMed:17148574).May function as link between transport vesicles and dynactin(Probable). Negatively regulates retrograde transport of BACE1from the cell surface to the trans-Golgi network(PubMed:20354142). Involved in E-cadherin sorting and degradation;inhibits PIP5K1C isoform 3-mediated E-cadherin degradation(PubMed:24610942). In association with GIT1 involved in EGFRdegradation. Promotes lysosomal degradation of CDKN1B (Bysimilarity). May contribute to transcription regulation(Probable). {ECO:0000250|UniProtKB:Q6P8X1,ECO:0000269|PubMed:17148574, ECO:0000269|PubMed:19935774,ECO:0000269|PubMed:20354142, ECO:0000269|PubMed:23085988,ECO:0000269|PubMed:24610942, ECO:0000303|PubMed:19935774,ECO:0000303|PubMed:20830743, ECO:0000305}.

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 PSMA6_SNX6


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 PSMA6_SNX6


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
PSMA6PSMD13, PSMA3, PLK1, UBQLN2, USP14, USP53, SLX1B, CUL1, RBX1, PSMA4, PSMA2, RNF185, UBC, XBP1, UBD, PSMD4, PSMD14, ADRM1, PSMD1, TXNL1, RAD23A, SHFM1, PSME1, PSMA7, PSMA1, PPP3CA, CCND1, CCNE1, CCNA2, CCNB1, CDK4, CDK1, CDK2, CCNF, GPS1, COPS5, PSMD6, PSMC1, FKBP8, NEDD8, DNAJB2, KIAA0368, COPS2, UCHL5, POMP, PSMB6, PSMB5, PSMB8, USP4, PSMA5, PSMB1, PSMB2, PSMB3, PSMB4, PSMB7, PSMC6, PSMC3, PSMC4, PSMC2, PSMD2, PSMD3, PSMD8, PSMC5, PSMD12, PSMD11, PSMD7, PSMD5, PSME2, PSME3, PSMA8, SF3A1, CCT5, SNRPA1, TPM4, CCT4, CCT3, EEF1A1, CCT8, TARDBP, BRCA1, ECT2, LIG4, PAXIP1, FN1, VCAM1, IQCB1, NOS2, ITGA4, PARK2, BAG3, CAST, HNRNPA2B1, PYCRL, RPP30, RPP38, PSMG1, PSMG3, PSMG2, AURKA, HUWE1, CADM1, ZBTB44, TRIM39, C19orf57, LIMD2, RNF170, KRTAP4-2, RTP5, RNF2, AMFR, SYVN1, BUB1B, VCP, UBQLN1, UBXN4, PSMB9, HSPB1, AMBRA1, ACTN4, CAND2, CAPZA1, ELP6, EXOSC4, EXOSC6, EXOSC9, ISY1-RAB43, ISY1, NELFE, PGK1, POLR2A, DNAJA2, EXOSC5, TPM3, WDR11, NTRK1, FBXO7, MID1, CEP85, PSMA6, DERL1, CYLD, SOD1, MAP1LC3B, SQSTM1SNX6PIM1, SNX4, SNX2, BMPR1B, ACVR2B, ACVRL1, SNX1, TGFBR2, TGFBR1, PDGFRA, INSR, EGFR, LEPR, CALM1, DISC1, NDEL1, TNIK, ELAVL1, GIT1, COIL, PHLPP1, BRCA1, CSNK2A2, GTF2A1, H3F3A, RTF1, ANP32E, APEH, ATG7, ATP6V1C1, FAM129B, PAWR, SHMT1, SHMT2, STAT1, TSNAX, VPS29, VPS35, TSN, BRMS1, ESR1, USP46, FAM221A, DNM3, TEAD4, TREML2, FAM43A, CAMKMT, CCNL2, GATS, VAPB, IMPDH2, PCID2, IFI16, HERC2, PTPRR, MTM1, SNX32, POTEB3, TSPYL1, HENMT1, TCTEX1D2, SNRNP27, CCDC102B, USP47, FGB, EPB42


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 PSMA6_SNX6


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 PSMA6_SNX6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePSMA6C0019693HIV Infections1CTD_human
HgenePSMA6C0027051Myocardial Infarction1CTD_human