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Fusion gene ID: 38483 |
FusionGeneSummary for TMEM175_IDUA |
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Fusion gene information | Fusion gene name: TMEM175_IDUA | Fusion gene ID: 38483 | Hgene | Tgene | Gene symbol | TMEM175 | IDUA | Gene ID | 84286 | 3425 |
Gene name | transmembrane protein 175 | iduronidase, alpha-L- | |
Synonyms | hTMEM175 | IDA|MPS1 | |
Cytomap | 4p16.3 | 4p16.3 | |
Type of gene | protein-coding | protein-coding | |
Description | endosomal/lysosomal potassium channel TMEM175endosomal/lysomomal potassium channel TMEM175 | alpha-L-iduronidase | |
Modification date | 20180519 | 20180524 | |
UniProtAcc | Q9BSA9 | P35475 | |
Ensembl transtripts involved in fusion gene | ENST00000264771, ENST00000515740, ENST00000508204, ENST00000504180, | ENST00000247933, ENST00000453894, ENST00000509744, ENST00000514224, | |
Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 3 X 3 X 2=18 |
# samples | 3 | 3 | |
** MAII score | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | TMEM175 | GO:0071805 | potassium ion transmembrane transport | 26317472|28723891 |
Tgene | IDUA | GO:0030209 | dermatan sulfate catabolic process | 24036510 |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | LD | LUSC | TCGA-85-8479-01A | TMEM175 | chr4 | 926328 | + | IDUA | chr4 | 994400 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
5UTR-3CDS | ENST00000264771 | ENST00000247933 | TMEM175 | chr4 | 926328 | + | IDUA | chr4 | 994400 | + |
5UTR-3CDS | ENST00000264771 | ENST00000453894 | TMEM175 | chr4 | 926328 | + | IDUA | chr4 | 994400 | + |
5UTR-intron | ENST00000264771 | ENST00000509744 | TMEM175 | chr4 | 926328 | + | IDUA | chr4 | 994400 | + |
5UTR-5UTR | ENST00000264771 | ENST00000514224 | TMEM175 | chr4 | 926328 | + | IDUA | chr4 | 994400 | + |
5UTR-3CDS | ENST00000515740 | ENST00000247933 | TMEM175 | chr4 | 926328 | + | IDUA | chr4 | 994400 | + |
5UTR-3CDS | ENST00000515740 | ENST00000453894 | TMEM175 | chr4 | 926328 | + | IDUA | chr4 | 994400 | + |
5UTR-intron | ENST00000515740 | ENST00000509744 | TMEM175 | chr4 | 926328 | + | IDUA | chr4 | 994400 | + |
5UTR-5UTR | ENST00000515740 | ENST00000514224 | TMEM175 | chr4 | 926328 | + | IDUA | chr4 | 994400 | + |
5UTR-3CDS | ENST00000508204 | ENST00000247933 | TMEM175 | chr4 | 926328 | + | IDUA | chr4 | 994400 | + |
5UTR-3CDS | ENST00000508204 | ENST00000453894 | TMEM175 | chr4 | 926328 | + | IDUA | chr4 | 994400 | + |
5UTR-intron | ENST00000508204 | ENST00000509744 | TMEM175 | chr4 | 926328 | + | IDUA | chr4 | 994400 | + |
5UTR-5UTR | ENST00000508204 | ENST00000514224 | TMEM175 | chr4 | 926328 | + | IDUA | chr4 | 994400 | + |
intron-3CDS | ENST00000504180 | ENST00000247933 | TMEM175 | chr4 | 926328 | + | IDUA | chr4 | 994400 | + |
intron-3CDS | ENST00000504180 | ENST00000453894 | TMEM175 | chr4 | 926328 | + | IDUA | chr4 | 994400 | + |
intron-intron | ENST00000504180 | ENST00000509744 | TMEM175 | chr4 | 926328 | + | IDUA | chr4 | 994400 | + |
intron-5UTR | ENST00000504180 | ENST00000514224 | TMEM175 | chr4 | 926328 | + | IDUA | chr4 | 994400 | + |
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FusionProtFeatures for TMEM175_IDUA |
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Hgene | Tgene |
TMEM175 | IDUA |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for TMEM175_IDUA |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
TMEM175 | APP | IDUA | SCGB2A2 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for TMEM175_IDUA |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for TMEM175_IDUA |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | IDUA | C0086431 | Hurler-Scheie Syndrome | 11 | ORPHANET;UNIPROT |
Tgene | IDUA | C0086795 | Pfaundler-Hurler Syndrome | 9 | HPO;ORPHANET;UNIPROT |
Tgene | IDUA | C0026708 | Mucopolysaccharidosis V | 8 | ORPHANET;UNIPROT |
Tgene | IDUA | C0023786 | Mucopolysaccharidosis I | 5 | CTD_human |