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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: 29313

FusionGeneSummary for PTGDS_MYL7

check button Fusion gene summary
Fusion gene informationFusion gene name: PTGDS_MYL7
Fusion gene ID: 29313
HgeneTgene
Gene symbol

PTGDS

MYL7

Gene ID

5730

58498

Gene nameprostaglandin D2 synthasemyosin light chain 7
SynonymsL-PGDS|LPGDS|PDS|PGD2|PGDS|PGDS2MYL2A|MYLC2A
Cytomap

9q34.3

7p13

Type of geneprotein-codingprotein-coding
Descriptionprostaglandin-H2 D-isomerasePGD2 synthasebeta-trace proteincerebrin-28glutathione-independent PGD synthaseglutathione-independent PGD synthetaselipocalin-type prostaglandin D synthaseprostaglandin D synthaseprostaglandin D2 synthase 21kDa (brain)myosin regulatory light chain 2, atrial isoformMLC-2aMLC2amyosin light chain 2amyosin regulatory light chain 7myosin, light chain 7, regulatorymyosin, light polypeptide 7, regulatory
Modification date2018051920180519
UniProtAcc

P41222

Q01449

Ensembl transtripts involved in fusion geneENST00000224167, ENST00000371625, 
ENST00000460340, 
ENST00000223364, 
ENST00000458240, ENST00000434895, 
Fusion gene scores* DoF score11 X 8 X 3=2641 X 1 X 1=1
# samples 132
** MAII scorelog2(13/264*10)=-1.02202630633
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/1*10)=4.32192809488736
Context

PubMed: PTGDS [Title/Abstract] AND MYL7 [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
HgenePTGDS

GO:0001516

prostaglandin biosynthetic process

20667974


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
ChiTaRS3.1AJ711203PTGDSchr9

139872044

+MYL7chr7

44179968

-
ChiTaRS3.1AJ711202PTGDSchr9

139872044

+MYL7chr7

44179968

-
* 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
Frame-shiftENST00000224167ENST00000223364PTGDSchr9

139872044

+MYL7chr7

44179968

-
Frame-shiftENST00000224167ENST00000458240PTGDSchr9

139872044

+MYL7chr7

44179968

-
5CDS-5UTRENST00000224167ENST00000434895PTGDSchr9

139872044

+MYL7chr7

44179968

-
Frame-shiftENST00000371625ENST00000223364PTGDSchr9

139872044

+MYL7chr7

44179968

-
Frame-shiftENST00000371625ENST00000458240PTGDSchr9

139872044

+MYL7chr7

44179968

-
5CDS-5UTRENST00000371625ENST00000434895PTGDSchr9

139872044

+MYL7chr7

44179968

-
intron-3CDSENST00000460340ENST00000223364PTGDSchr9

139872044

+MYL7chr7

44179968

-
intron-3CDSENST00000460340ENST00000458240PTGDSchr9

139872044

+MYL7chr7

44179968

-
intron-5UTRENST00000460340ENST00000434895PTGDSchr9

139872044

+MYL7chr7

44179968

-

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FusionProtFeatures for PTGDS_MYL7


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

P41222

MYL7

Q01449

Catalyzes the conversion of PGH2 to PGD2, aprostaglandin involved in smooth muscle contraction/relaxation anda potent inhibitor of platelet aggregation. Involved in a varietyof CNS functions, such as sedation, NREM sleep and PGE2-inducedallodynia, and may have an anti-apoptotic role inoligodendrocytes. Binds small non-substrate lipophilic molecules,including biliverdin, bilirubin, retinal, retinoic acid andthyroid hormone, and may act as a scavenger for harmfulhydrophopic molecules and as a secretory retinoid and thyroidhormone transporter. Possibly involved in development andmaintenance of the blood-brain, blood-retina, blood-aqueous humorand blood-testis barrier. It is likely to play important roles inboth maturation and maintenance of the central nervous system andmale reproductive system. {ECO:0000269|PubMed:20667974,ECO:0000269|PubMed:9475419}.

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 PTGDS_MYL7


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 PTGDS_MYL7


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 PTGDS_MYL7


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 PTGDS_MYL7


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePTGDSC0005586Bipolar Disorder2PSYGENET
HgenePTGDSC0036341Schizophrenia1PSYGENET
TgeneMYL7C0007194Hypertrophic Cardiomyopathy1CTD_human