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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: 13528

FusionGeneSummary for FKBP5_VPS54

check button Fusion gene summary
Fusion gene informationFusion gene name: FKBP5_VPS54
Fusion gene ID: 13528
HgeneTgene
Gene symbol

FKBP5

VPS54

Gene ID

2289

51542

Gene nameFK506 binding protein 5VPS54, GARP complex subunit
SynonymsAIG6|FKBP51|FKBP54|P54|PPIase|Ptg-10HCC8|PPP1R164|SLP-8p|VPS54L|WR|hVps54L
Cytomap

6p21.31

2p15-p14

Type of geneprotein-codingprotein-coding
Descriptionpeptidyl-prolyl cis-trans isomerase FKBP551 kDa FK506-binding protein51 kDa FKBP54 kDa progesterone receptor-associated immunophilinFF1 antigenFKBP-51HSP90-binding immunophilinPPIase FKBP5T-cell FK506-binding proteinandrogen-regulated protein 6pvacuolar protein sorting-associated protein 54hepatocellular carcinoma protein 8protein phosphatase 1, regulatory subunit 164tumor antigen HOM-HCC-8tumor antigen SLP-8pvacuolar protein sorting 54 homolog
Modification date2018052720180523
UniProtAcc

Q13451

Q9P1Q0

Ensembl transtripts involved in fusion geneENST00000539068, ENST00000536438, 
ENST00000357266, ENST00000540787, 
ENST00000542713, 
ENST00000409558, 
ENST00000272322, ENST00000354504, 
Fusion gene scores* DoF score9 X 10 X 6=5405 X 5 X 4=100
# samples 125
** MAII scorelog2(12/540*10)=-2.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FKBP5 [Title/Abstract] AND VPS54 [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
HgeneFKBP5

GO:0061077

chaperone-mediated protein folding

11350175


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
TCGALDPRADTCGA-EJ-5532-01AFKBP5chr6

35543526

-VPS54chr2

64124724

-
* 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-3CDSENST00000539068ENST00000409558FKBP5chr6

35543526

-VPS54chr2

64124724

-
intron-3CDSENST00000539068ENST00000272322FKBP5chr6

35543526

-VPS54chr2

64124724

-
intron-3CDSENST00000539068ENST00000354504FKBP5chr6

35543526

-VPS54chr2

64124724

-
intron-3CDSENST00000536438ENST00000409558FKBP5chr6

35543526

-VPS54chr2

64124724

-
intron-3CDSENST00000536438ENST00000272322FKBP5chr6

35543526

-VPS54chr2

64124724

-
intron-3CDSENST00000536438ENST00000354504FKBP5chr6

35543526

-VPS54chr2

64124724

-
intron-3CDSENST00000357266ENST00000409558FKBP5chr6

35543526

-VPS54chr2

64124724

-
intron-3CDSENST00000357266ENST00000272322FKBP5chr6

35543526

-VPS54chr2

64124724

-
intron-3CDSENST00000357266ENST00000354504FKBP5chr6

35543526

-VPS54chr2

64124724

-
intron-3CDSENST00000540787ENST00000409558FKBP5chr6

35543526

-VPS54chr2

64124724

-
intron-3CDSENST00000540787ENST00000272322FKBP5chr6

35543526

-VPS54chr2

64124724

-
intron-3CDSENST00000540787ENST00000354504FKBP5chr6

35543526

-VPS54chr2

64124724

-
intron-3CDSENST00000542713ENST00000409558FKBP5chr6

35543526

-VPS54chr2

64124724

-
intron-3CDSENST00000542713ENST00000272322FKBP5chr6

35543526

-VPS54chr2

64124724

-
intron-3CDSENST00000542713ENST00000354504FKBP5chr6

35543526

-VPS54chr2

64124724

-

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FusionProtFeatures for FKBP5_VPS54


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FKBP5

Q13451

VPS54

Q9P1Q0

Immunophilin protein with PPIase and co-chaperoneactivities. Component of unligated steroid receptorsheterocomplexes through interaction with heat-shock protein 90(HSP90). Plays a role in the intracellular trafficking ofheterooligomeric forms of steroid hormone receptors maintainingthe complex into the cytoplasm when unliganded. 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 FKBP5_VPS54


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 FKBP5_VPS54


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
FKBP5MAP3K1, IKBKE, ESR1, FES, HSF1, PGR, HSP90AA1, USP49, PHLPP1, CDK9, STK11, STIP1, IKBKB, RIPK3, AKT1, NR3C1, NR3C2, AR, HSPA4, PTGES3, LRRK1, MAGEA11, APP, CLK3, CDK15, MAGED2, MCM3, MCM5, MGEA5, OGFR, TPM3, TRAP1, USP7, PRKAA1, AGO1, AHSA1, CDC37, CDC37L1, SUGT1, NUDCD3, HSP90AB1, ILK, NUDC, AGO2, CACYBP, CHUK, AURKB, ARAF, GLMN, TTC4, CHORDC1, LRRC40, IKBKG, KIAA1279, ANKMY2, EGLN1, HGH1, MCMBP, PDCD2, CDK4, CDK11A, TUBA1A, PNPLA2, DNAJB6, C14orf80, CXorf57, PYGL, MCM4, HSF4, IRS4, LIMK2, SGK2, TSSK6, ULK3, AGO3, MOS, PSKH2, PIPOX, SGK1, CDKL1, CDKL4, AURKC, CDK18, CDK7, CDK13, CDK3, RPS6KB2, DUT, TLE3, NTRK1, XRCC3, TINF2, FBXW7, DUSP2, DUSP8, AMACR, MAP3K6, PRKACB, AKT3, PDIK1L, STK35, NEK11, ABHD15, WDR90, CDK6, ATG7, TRIM25VPS54VPS52, VPS53, VPS51, STX6, CCDC132, TSSC1, SYN1, C10orf76, PTAR1, RAB1A, RAB1B


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 FKBP5_VPS54


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 FKBP5_VPS54


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFKBP5C0005586Bipolar Disorder5PSYGENET
HgeneFKBP5C0011570Mental Depression5PSYGENET
HgeneFKBP5C0011581Depressive disorder5PSYGENET
HgeneFKBP5C0041696Unipolar Depression5PSYGENET
HgeneFKBP5C0525045Mood Disorders5PSYGENET
HgeneFKBP5C1269683Major Depressive Disorder5CTD_human;PSYGENET
HgeneFKBP5C0001973Alcoholic Intoxication, Chronic1PSYGENET
HgeneFKBP5C0003873Rheumatoid Arthritis1CTD_human
HgeneFKBP5C0014175Endometriosis1CTD_human
HgeneFKBP5C0021290Neonatal disorder1CTD_human
HgeneFKBP5C0033975Psychotic Disorders1PSYGENET
HgeneFKBP5C0349204Nonorganic psychosis1PSYGENET
HgeneFKBP5C0525041Neurobehavioral Manifestations1CTD_human
HgeneFKBP5C2362914clinical depression1PSYGENET
TgeneVPS54C0027746Nerve Degeneration1CTD_human