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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: 22901

FusionGeneSummary for MVB12B_FKBP8

check button Fusion gene summary
Fusion gene informationFusion gene name: MVB12B_FKBP8
Fusion gene ID: 22901
HgeneTgene
Gene symbol

MVB12B

FKBP8

Gene ID

89853

23770

Gene namemultivesicular body subunit 12BFK506 binding protein 8
SynonymsC9orf28|FAM125BFKBP38|FKBPr38
Cytomap

9q33.3

19p13.11

Type of geneprotein-codingprotein-coding
Descriptionmultivesicular body subunit 12BESCRT-I complex subunit MVB12Bfamily with sequence similarity 125, member Bpeptidyl-prolyl cis-trans isomerase FKBP838 kDa FK506-binding protein38 kDa FKBPFK506 binding protein 8, 38kDaFKBP-38FKBP-8PPIase FKBP8hFKBP38rotamase
Modification date2018052220180522
UniProtAcc

Q9H7P6

Q14318

Ensembl transtripts involved in fusion geneENST00000545391, ENST00000361171, 
ENST00000436593, ENST00000535766, 
ENST00000485886, 
ENST00000597960, 
ENST00000610101, ENST00000596558, 
ENST00000222308, ENST00000608443, 
ENST00000453489, 
Fusion gene scores* DoF score7 X 8 X 3=16811 X 11 X 5=605
# samples 1013
** MAII scorelog2(10/168*10)=-0.748461233004036
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(13/605*10)=-2.2184235191335
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MVB12B [Title/Abstract] AND FKBP8 [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
ChiTaRS3.1AK092072MVB12Bchr9

129249192

-FKBP8chr19

18642643

-
* 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-3UTRENST00000545391ENST00000597960MVB12Bchr9

129249192

-FKBP8chr19

18642643

-
intron-3UTRENST00000545391ENST00000610101MVB12Bchr9

129249192

-FKBP8chr19

18642643

-
intron-3UTRENST00000545391ENST00000596558MVB12Bchr9

129249192

-FKBP8chr19

18642643

-
intron-3UTRENST00000545391ENST00000222308MVB12Bchr9

129249192

-FKBP8chr19

18642643

-
intron-3UTRENST00000545391ENST00000608443MVB12Bchr9

129249192

-FKBP8chr19

18642643

-
intron-intronENST00000545391ENST00000453489MVB12Bchr9

129249192

-FKBP8chr19

18642643

-
intron-3UTRENST00000361171ENST00000597960MVB12Bchr9

129249192

-FKBP8chr19

18642643

-
intron-3UTRENST00000361171ENST00000610101MVB12Bchr9

129249192

-FKBP8chr19

18642643

-
intron-3UTRENST00000361171ENST00000596558MVB12Bchr9

129249192

-FKBP8chr19

18642643

-
intron-3UTRENST00000361171ENST00000222308MVB12Bchr9

129249192

-FKBP8chr19

18642643

-
intron-3UTRENST00000361171ENST00000608443MVB12Bchr9

129249192

-FKBP8chr19

18642643

-
intron-intronENST00000361171ENST00000453489MVB12Bchr9

129249192

-FKBP8chr19

18642643

-
intron-3UTRENST00000436593ENST00000597960MVB12Bchr9

129249192

-FKBP8chr19

18642643

-
intron-3UTRENST00000436593ENST00000610101MVB12Bchr9

129249192

-FKBP8chr19

18642643

-
intron-3UTRENST00000436593ENST00000596558MVB12Bchr9

129249192

-FKBP8chr19

18642643

-
intron-3UTRENST00000436593ENST00000222308MVB12Bchr9

129249192

-FKBP8chr19

18642643

-
intron-3UTRENST00000436593ENST00000608443MVB12Bchr9

129249192

-FKBP8chr19

18642643

-
intron-intronENST00000436593ENST00000453489MVB12Bchr9

129249192

-FKBP8chr19

18642643

-
intron-3UTRENST00000535766ENST00000597960MVB12Bchr9

129249192

-FKBP8chr19

18642643

-
intron-3UTRENST00000535766ENST00000610101MVB12Bchr9

129249192

-FKBP8chr19

18642643

-
intron-3UTRENST00000535766ENST00000596558MVB12Bchr9

129249192

-FKBP8chr19

18642643

-
intron-3UTRENST00000535766ENST00000222308MVB12Bchr9

129249192

-FKBP8chr19

18642643

-
intron-3UTRENST00000535766ENST00000608443MVB12Bchr9

129249192

-FKBP8chr19

18642643

-
intron-intronENST00000535766ENST00000453489MVB12Bchr9

129249192

-FKBP8chr19

18642643

-
intron-3UTRENST00000485886ENST00000597960MVB12Bchr9

129249192

-FKBP8chr19

18642643

-
intron-3UTRENST00000485886ENST00000610101MVB12Bchr9

129249192

-FKBP8chr19

18642643

-
intron-3UTRENST00000485886ENST00000596558MVB12Bchr9

129249192

-FKBP8chr19

18642643

-
intron-3UTRENST00000485886ENST00000222308MVB12Bchr9

129249192

-FKBP8chr19

18642643

-
intron-3UTRENST00000485886ENST00000608443MVB12Bchr9

129249192

-FKBP8chr19

18642643

-
intron-intronENST00000485886ENST00000453489MVB12Bchr9

129249192

-FKBP8chr19

18642643

-

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FusionProtFeatures for MVB12B_FKBP8


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MVB12B

Q9H7P6

FKBP8

Q14318

Component of the ESCRT-I complex, a regulator ofvesicular trafficking process. Required for the sorting ofendocytic ubiquitinated cargos into multivesicular bodies. Constitutively inactive PPiase, which becomes activewhen bound to calmodulin and calcium. Seems to act as a chaperonefor BCL2, targets it to the mitochondria and modulates itsphosphorylation state. The BCL2/FKBP8/calmodulin/calcium complexprobably interferes with the binding of BCL2 to its targets. Theactive form of FKBP8 may therefore play a role in the regulationof apoptosis. {ECO:0000269|PubMed:12510191,ECO:0000269|PubMed:15757646, ECO:0000269|PubMed:16176796}.

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 MVB12B_FKBP8


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 MVB12B_FKBP8


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 MVB12B_FKBP8


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 MVB12B_FKBP8


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