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Fusion gene ID: 17043 |
FusionGeneSummary for IDUA_ALS2CR12 |
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Fusion gene information | Fusion gene name: IDUA_ALS2CR12 | Fusion gene ID: 17043 | Hgene | Tgene | Gene symbol | IDUA | ALS2CR12 | Gene ID | 3425 | 130540 |
Gene name | iduronidase, alpha-L- | amyotrophic lateral sclerosis 2 chromosome region 12 | |
Synonyms | IDA|MPS1 | - | |
Cytomap | 4p16.3 | 2q33.1 | |
Type of gene | protein-coding | protein-coding | |
Description | alpha-L-iduronidase | amyotrophic lateral sclerosis 2 chromosomal region candidate gene 12 proteinamyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12amyotrophic lateral sclerosis 2 chromosome region candidate 12 | |
Modification date | 20180524 | 20180519 | |
UniProtAcc | P35475 | Q96Q35 | |
Ensembl transtripts involved in fusion gene | ENST00000247933, ENST00000453894, ENST00000509744, ENST00000514224, | ENST00000286190, ENST00000405148, ENST00000392257, ENST00000439709, ENST00000448967, | |
Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 6 X 4 X 4=96 |
# samples | 2 | 6 | |
** MAII score | log2(2/8*10)=1.32192809488736 | log2(6/96*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: IDUA [Title/Abstract] AND ALS2CR12 [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 | 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 | RV | LIHC | TCGA-DD-AAD5-01A | IDUA | chr4 | 981737 | + | ALS2CR12 | chr2 | 202154508 | - |
* 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 |
Frame-shift | ENST00000247933 | ENST00000286190 | IDUA | chr4 | 981737 | + | ALS2CR12 | chr2 | 202154508 | - |
Frame-shift | ENST00000247933 | ENST00000405148 | IDUA | chr4 | 981737 | + | ALS2CR12 | chr2 | 202154508 | - |
Frame-shift | ENST00000247933 | ENST00000392257 | IDUA | chr4 | 981737 | + | ALS2CR12 | chr2 | 202154508 | - |
Frame-shift | ENST00000247933 | ENST00000439709 | IDUA | chr4 | 981737 | + | ALS2CR12 | chr2 | 202154508 | - |
5CDS-intron | ENST00000247933 | ENST00000448967 | IDUA | chr4 | 981737 | + | ALS2CR12 | chr2 | 202154508 | - |
intron-3CDS | ENST00000453894 | ENST00000286190 | IDUA | chr4 | 981737 | + | ALS2CR12 | chr2 | 202154508 | - |
intron-3CDS | ENST00000453894 | ENST00000405148 | IDUA | chr4 | 981737 | + | ALS2CR12 | chr2 | 202154508 | - |
intron-3CDS | ENST00000453894 | ENST00000392257 | IDUA | chr4 | 981737 | + | ALS2CR12 | chr2 | 202154508 | - |
intron-3CDS | ENST00000453894 | ENST00000439709 | IDUA | chr4 | 981737 | + | ALS2CR12 | chr2 | 202154508 | - |
intron-intron | ENST00000453894 | ENST00000448967 | IDUA | chr4 | 981737 | + | ALS2CR12 | chr2 | 202154508 | - |
3UTR-3CDS | ENST00000509744 | ENST00000286190 | IDUA | chr4 | 981737 | + | ALS2CR12 | chr2 | 202154508 | - |
3UTR-3CDS | ENST00000509744 | ENST00000405148 | IDUA | chr4 | 981737 | + | ALS2CR12 | chr2 | 202154508 | - |
3UTR-3CDS | ENST00000509744 | ENST00000392257 | IDUA | chr4 | 981737 | + | ALS2CR12 | chr2 | 202154508 | - |
3UTR-3CDS | ENST00000509744 | ENST00000439709 | IDUA | chr4 | 981737 | + | ALS2CR12 | chr2 | 202154508 | - |
3UTR-intron | ENST00000509744 | ENST00000448967 | IDUA | chr4 | 981737 | + | ALS2CR12 | chr2 | 202154508 | - |
intron-3CDS | ENST00000514224 | ENST00000286190 | IDUA | chr4 | 981737 | + | ALS2CR12 | chr2 | 202154508 | - |
intron-3CDS | ENST00000514224 | ENST00000405148 | IDUA | chr4 | 981737 | + | ALS2CR12 | chr2 | 202154508 | - |
intron-3CDS | ENST00000514224 | ENST00000392257 | IDUA | chr4 | 981737 | + | ALS2CR12 | chr2 | 202154508 | - |
intron-3CDS | ENST00000514224 | ENST00000439709 | IDUA | chr4 | 981737 | + | ALS2CR12 | chr2 | 202154508 | - |
intron-intron | ENST00000514224 | ENST00000448967 | IDUA | chr4 | 981737 | + | ALS2CR12 | chr2 | 202154508 | - |
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FusionProtFeatures for IDUA_ALS2CR12 |
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Hgene | Tgene |
IDUA | ALS2CR12 |
![]() * 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 IDUA_ALS2CR12 |
![]() (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 IDUA_ALS2CR12 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
IDUA | SCGB2A2 | ALS2CR12 | SULT2B1, TCL1A, STK16, TXNDC5 |
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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 IDUA_ALS2CR12 |
![]() (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 IDUA_ALS2CR12 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | IDUA | C0086431 | Hurler-Scheie Syndrome | 11 | ORPHANET;UNIPROT |
Hgene | IDUA | C0086795 | Pfaundler-Hurler Syndrome | 9 | HPO;ORPHANET;UNIPROT |
Hgene | IDUA | C0026708 | Mucopolysaccharidosis V | 8 | ORPHANET;UNIPROT |
Hgene | IDUA | C0023786 | Mucopolysaccharidosis I | 5 | CTD_human |