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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: 26778

FusionGeneSummary for PGAM5_IDS

check button Fusion gene summary
Fusion gene informationFusion gene name: PGAM5_IDS
Fusion gene ID: 26778
HgeneTgene
Gene symbol

PGAM5

IDS

Gene ID

192111

3423

Gene namePGAM family member 5, mitochondrial serine/threonine protein phosphataseiduronate 2-sulfatase
SynonymsBXLBV68MPS2|SIDS
Cytomap

12q24.33

Xq28

Type of geneprotein-codingprotein-coding
Descriptionserine/threonine-protein phosphatase PGAM5, mitochondrialBcl-XL-binding protein v68PGAM family member 5, serine/threonine protein phosphatase, mitochondrialphosphoglycerate mutase family member 5iduronate 2-sulfatasealpha-L-iduronate sulfate sulfataseiduronate 2-sulfatase 14 kDa chainiduronate 2-sulfatase 42 kDa chainidursulfase
Modification date2018052220180523
UniProtAcc

Q96HS1

P22304

Ensembl transtripts involved in fusion geneENST00000317555, ENST00000498926, 
ENST00000543955, ENST00000454808, 
ENST00000541034, 
ENST00000340855, 
ENST00000537071, ENST00000541269, 
ENST00000422081, ENST00000370441, 
ENST00000490775, ENST00000370443, 
ENST00000427113, ENST00000428056, 
Fusion gene scores* DoF score2 X 2 X 2=86 X 8 X 1=48
# samples 28
** MAII scorelog2(2/8*10)=1.32192809488736log2(8/48*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PGAM5 [Title/Abstract] AND IDS [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
ChiTaRS3.1BU735117PGAM5chr12

133299111

-IDSchrX

148560838

+
* 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-3UTRENST00000317555ENST00000340855PGAM5chr12

133299111

-IDSchrX

148560838

+
intron-intronENST00000317555ENST00000537071PGAM5chr12

133299111

-IDSchrX

148560838

+
intron-intronENST00000317555ENST00000541269PGAM5chr12

133299111

-IDSchrX

148560838

+
intron-intronENST00000317555ENST00000422081PGAM5chr12

133299111

-IDSchrX

148560838

+
intron-intronENST00000317555ENST00000370441PGAM5chr12

133299111

-IDSchrX

148560838

+
intron-intronENST00000317555ENST00000490775PGAM5chr12

133299111

-IDSchrX

148560838

+
intron-intronENST00000317555ENST00000370443PGAM5chr12

133299111

-IDSchrX

148560838

+
intron-intronENST00000317555ENST00000427113PGAM5chr12

133299111

-IDSchrX

148560838

+
intron-intronENST00000317555ENST00000428056PGAM5chr12

133299111

-IDSchrX

148560838

+
3UTR-3UTRENST00000498926ENST00000340855PGAM5chr12

133299111

-IDSchrX

148560838

+
3UTR-intronENST00000498926ENST00000537071PGAM5chr12

133299111

-IDSchrX

148560838

+
3UTR-intronENST00000498926ENST00000541269PGAM5chr12

133299111

-IDSchrX

148560838

+
3UTR-intronENST00000498926ENST00000422081PGAM5chr12

133299111

-IDSchrX

148560838

+
3UTR-intronENST00000498926ENST00000370441PGAM5chr12

133299111

-IDSchrX

148560838

+
3UTR-intronENST00000498926ENST00000490775PGAM5chr12

133299111

-IDSchrX

148560838

+
3UTR-intronENST00000498926ENST00000370443PGAM5chr12

133299111

-IDSchrX

148560838

+
3UTR-intronENST00000498926ENST00000427113PGAM5chr12

133299111

-IDSchrX

148560838

+
3UTR-intronENST00000498926ENST00000428056PGAM5chr12

133299111

-IDSchrX

148560838

+
intron-3UTRENST00000543955ENST00000340855PGAM5chr12

133299111

-IDSchrX

148560838

+
intron-intronENST00000543955ENST00000537071PGAM5chr12

133299111

-IDSchrX

148560838

+
intron-intronENST00000543955ENST00000541269PGAM5chr12

133299111

-IDSchrX

148560838

+
intron-intronENST00000543955ENST00000422081PGAM5chr12

133299111

-IDSchrX

148560838

+
intron-intronENST00000543955ENST00000370441PGAM5chr12

133299111

-IDSchrX

148560838

+
intron-intronENST00000543955ENST00000490775PGAM5chr12

133299111

-IDSchrX

148560838

+
intron-intronENST00000543955ENST00000370443PGAM5chr12

133299111

-IDSchrX

148560838

+
intron-intronENST00000543955ENST00000427113PGAM5chr12

133299111

-IDSchrX

148560838

+
intron-intronENST00000543955ENST00000428056PGAM5chr12

133299111

-IDSchrX

148560838

+
intron-3UTRENST00000454808ENST00000340855PGAM5chr12

133299111

-IDSchrX

148560838

+
intron-intronENST00000454808ENST00000537071PGAM5chr12

133299111

-IDSchrX

148560838

+
intron-intronENST00000454808ENST00000541269PGAM5chr12

133299111

-IDSchrX

148560838

+
intron-intronENST00000454808ENST00000422081PGAM5chr12

133299111

-IDSchrX

148560838

+
intron-intronENST00000454808ENST00000370441PGAM5chr12

133299111

-IDSchrX

148560838

+
intron-intronENST00000454808ENST00000490775PGAM5chr12

133299111

-IDSchrX

148560838

+
intron-intronENST00000454808ENST00000370443PGAM5chr12

133299111

-IDSchrX

148560838

+
intron-intronENST00000454808ENST00000427113PGAM5chr12

133299111

-IDSchrX

148560838

+
intron-intronENST00000454808ENST00000428056PGAM5chr12

133299111

-IDSchrX

148560838

+
intron-3UTRENST00000541034ENST00000340855PGAM5chr12

133299111

-IDSchrX

148560838

+
intron-intronENST00000541034ENST00000537071PGAM5chr12

133299111

-IDSchrX

148560838

+
intron-intronENST00000541034ENST00000541269PGAM5chr12

133299111

-IDSchrX

148560838

+
intron-intronENST00000541034ENST00000422081PGAM5chr12

133299111

-IDSchrX

148560838

+
intron-intronENST00000541034ENST00000370441PGAM5chr12

133299111

-IDSchrX

148560838

+
intron-intronENST00000541034ENST00000490775PGAM5chr12

133299111

-IDSchrX

148560838

+
intron-intronENST00000541034ENST00000370443PGAM5chr12

133299111

-IDSchrX

148560838

+
intron-intronENST00000541034ENST00000427113PGAM5chr12

133299111

-IDSchrX

148560838

+
intron-intronENST00000541034ENST00000428056PGAM5chr12

133299111

-IDSchrX

148560838

+

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FusionProtFeatures for PGAM5_IDS


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PGAM5

Q96HS1

IDS

P22304

Displays phosphatase activity for serine/threonineresidues, and, dephosphorylates and activates MAP3K5 kinase. Hasapparently no phosphoglycerate mutase activity. May be regulatorof mitochondrial dynamics. Substrate for a KEAP1-dependentubiquitin ligase complex. Contributes to the repression of NFE2L2-dependent gene expression. Acts as a central mediator forprogrammed necrosis induced by TNF, by reactive oxygen species andby calcium ionophore. {ECO:0000269|PubMed:18387606,ECO:0000269|PubMed:19590015, ECO:0000269|PubMed:22265414}. Required for the lysosomal degradation of heparansulfate and dermatan sulfate.

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 PGAM5_IDS


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 PGAM5_IDS


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 PGAM5_IDS


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 PGAM5_IDS


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneIDSC0026705Mucopolysaccharidosis II28CTD_human;UNIPROT