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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: 38483

FusionGeneSummary for TMEM175_IDUA

check button Fusion gene summary
Fusion gene informationFusion gene name: TMEM175_IDUA
Fusion gene ID: 38483
HgeneTgene
Gene symbol

TMEM175

IDUA

Gene ID

84286

3425

Gene nametransmembrane protein 175iduronidase, alpha-L-
SynonymshTMEM175IDA|MPS1
Cytomap

4p16.3

4p16.3

Type of geneprotein-codingprotein-coding
Descriptionendosomal/lysosomal potassium channel TMEM175endosomal/lysomomal potassium channel TMEM175alpha-L-iduronidase
Modification date2018051920180524
UniProtAcc

Q9BSA9

P35475

Ensembl transtripts involved in fusion geneENST00000264771, ENST00000515740, 
ENST00000508204, ENST00000504180, 
ENST00000247933, ENST00000453894, 
ENST00000509744, ENST00000514224, 
Fusion gene scores* DoF score3 X 3 X 3=273 X 3 X 2=18
# samples 33
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: TMEM175 [Title/Abstract] AND IDUA [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
HgeneTMEM175

GO:0071805

potassium ion transmembrane transport

26317472|28723891

TgeneIDUA

GO:0030209

dermatan sulfate catabolic process

24036510


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
TCGALDLUSCTCGA-85-8479-01ATMEM175chr4

926328

+IDUAchr4

994400

+
* 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
5UTR-3CDSENST00000264771ENST00000247933TMEM175chr4

926328

+IDUAchr4

994400

+
5UTR-3CDSENST00000264771ENST00000453894TMEM175chr4

926328

+IDUAchr4

994400

+
5UTR-intronENST00000264771ENST00000509744TMEM175chr4

926328

+IDUAchr4

994400

+
5UTR-5UTRENST00000264771ENST00000514224TMEM175chr4

926328

+IDUAchr4

994400

+
5UTR-3CDSENST00000515740ENST00000247933TMEM175chr4

926328

+IDUAchr4

994400

+
5UTR-3CDSENST00000515740ENST00000453894TMEM175chr4

926328

+IDUAchr4

994400

+
5UTR-intronENST00000515740ENST00000509744TMEM175chr4

926328

+IDUAchr4

994400

+
5UTR-5UTRENST00000515740ENST00000514224TMEM175chr4

926328

+IDUAchr4

994400

+
5UTR-3CDSENST00000508204ENST00000247933TMEM175chr4

926328

+IDUAchr4

994400

+
5UTR-3CDSENST00000508204ENST00000453894TMEM175chr4

926328

+IDUAchr4

994400

+
5UTR-intronENST00000508204ENST00000509744TMEM175chr4

926328

+IDUAchr4

994400

+
5UTR-5UTRENST00000508204ENST00000514224TMEM175chr4

926328

+IDUAchr4

994400

+
intron-3CDSENST00000504180ENST00000247933TMEM175chr4

926328

+IDUAchr4

994400

+
intron-3CDSENST00000504180ENST00000453894TMEM175chr4

926328

+IDUAchr4

994400

+
intron-intronENST00000504180ENST00000509744TMEM175chr4

926328

+IDUAchr4

994400

+
intron-5UTRENST00000504180ENST00000514224TMEM175chr4

926328

+IDUAchr4

994400

+

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FusionProtFeatures for TMEM175_IDUA


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TMEM175

Q9BSA9

IDUA

P35475

Organelle-specific potassium channel specificallyresponsible for potassium conductance in endosomes and lysosomes.Forms a potassium-permeable leak-like channel, which regulateslumenal pH stability and is required for autophagosome-lysosomefusion. Constitutes the major lysosomal potassium channel.{ECO:0000269|PubMed:26317472, ECO:0000269|PubMed:28723891}.

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 TMEM175_IDUA


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 TMEM175_IDUA


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
TMEM175APPIDUASCGB2A2


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 TMEM175_IDUA


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 TMEM175_IDUA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneIDUAC0086431Hurler-Scheie Syndrome11ORPHANET;UNIPROT
TgeneIDUAC0086795Pfaundler-Hurler Syndrome9HPO;ORPHANET;UNIPROT
TgeneIDUAC0026708Mucopolysaccharidosis V8ORPHANET;UNIPROT
TgeneIDUAC0023786Mucopolysaccharidosis I5CTD_human