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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: 27550

FusionGeneSummary for PLD6_TNS1

check button Fusion gene summary
Fusion gene informationFusion gene name: PLD6_TNS1
Fusion gene ID: 27550
HgeneTgene
Gene symbol

PLD6

TNS1

Gene ID

201164

7145

Gene namephospholipase D family member 6tensin 1
SynonymsZUCMST091|MST122|MST127|MSTP091|MSTP122|MSTP127|MXRA6|PPP1R155|TNS
Cytomap

17p11.2

2q35

Type of geneprotein-codingprotein-coding
Descriptionmitochondrial cardiolipin hydrolasePLD 6choline phosphatase 6mitoPLDmitochondrial phospholipasephosphatidylcholine-hydrolyzing phospholipase D6phospholipase D6protein zucchini homologtensin-1Matrix-remodelling-associated protein 6matrix-remodelling associated 6protein phosphatase 1, regulatory subunit 155
Modification date2018052320180519
UniProtAcc

Q8N2A8

Q9HBL0

Ensembl transtripts involved in fusion geneENST00000321560, ENST00000171887, 
ENST00000419504, ENST00000430930, 
ENST00000310858, ENST00000480665, 
Fusion gene scores* DoF score3 X 3 X 2=186 X 6 X 2=72
# samples 36
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(6/72*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PLD6 [Title/Abstract] AND TNS1 [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
HgenePLD6

GO:0010636

positive regulation of mitochondrial fusion

24599962


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
ChiTaRS3.1BF732578PLD6chr17

17109632

+TNS1chr2

218682697

-
* 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-3CDSENST00000321560ENST00000171887PLD6chr17

17109632

+TNS1chr2

218682697

-
intron-3CDSENST00000321560ENST00000419504PLD6chr17

17109632

+TNS1chr2

218682697

-
intron-3CDSENST00000321560ENST00000430930PLD6chr17

17109632

+TNS1chr2

218682697

-
intron-intronENST00000321560ENST00000310858PLD6chr17

17109632

+TNS1chr2

218682697

-
intron-intronENST00000321560ENST00000480665PLD6chr17

17109632

+TNS1chr2

218682697

-

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FusionProtFeatures for PLD6_TNS1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PLD6

Q8N2A8

TNS1

Q9HBL0

Endonuclease that plays a critical role in PIWI-interacting RNA (piRNA) biogenesis during spermatogenesis. piRNAsprovide essential protection against the activity of mobilegenetic elements (By similarity). piRNA-mediated transposonsilencing is thus critical for maintaining genome stability, inparticular in germline cells when transposons are mobilized as aconsequence of wide-spread genomic demethylation (By similarity).Has been proposed to act as a cardiolipin hydrolase to generatephosphatidic acid at mitochondrial surface (By similarity).Although it cannot be excluded that it can act as a phospholipasein some circumstances, it should be noted that cardiolipinhydrolase activity is either undetectable in vitro, or very low(PubMed:21397848). In addition, cardiolipin is almost exclusivelyfound on the inner mitochondrial membrane, while PLD6 localizes tothe outer mitochondrial membrane, facing the cytosol(PubMed:21397848). Has been shown to be a backbone-non-specific,single strand-specific nuclease, cleaving either RNA or DNAsubstrates with similar affinity. Produces 5' phosphate and 3'hydroxyl termini, suggesting it could directly participate in theprocessing of primary piRNA transcripts (By similarity). Also actsas a regulator of mitochondrial shape through facilitatingmitochondrial fusion (PubMed:17028579, PubMed:26711011).{ECO:0000250|UniProtKB:Q5SWZ9, ECO:0000269|PubMed:17028579,ECO:0000269|PubMed:21397848, ECO:0000269|PubMed:26711011}. Involved in fibrillar adhesion formation. May beinvolved in cell migration, cartilage development and in linkingsignal transduction pathways to the cytoskeleton.{ECO:0000269|PubMed:21768292}.

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 PLD6_TNS1


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 PLD6_TNS1


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 PLD6_TNS1


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 PLD6_TNS1


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