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Fusion Protein:ASAH1-HGSNAT |
Fusion Protein Summary |
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Fusion partner gene information | Fusion gene name: ASAH1-HGSNAT | FusionPDB ID: 6936 | FusionGDB2.0 ID: 6936 | Hgene | Tgene | Gene symbol | ASAH1 | HGSNAT | Gene ID | 427 | 138050 |
Gene name | N-acylsphingosine amidohydrolase 1 | heparan-alpha-glucosaminide N-acetyltransferase | |
Synonyms | AC|ACDase|ASAH|PHP|PHP32|SMAPME | HGNAT|MPS3C|RP73|TMEM76 | |
Cytomap | 8p22 | 8p11.21-p11.1 | |
Type of gene | protein-coding | protein-coding | |
Description | acid ceramidaseN-acylethanolamine hydrolase ASAH1N-acylsphingosine amidohydrolase (acid ceramidase) 1acid CDaseacylsphingosine deacylaseputative 32 kDa heart protein | heparan-alpha-glucosaminide N-acetyltransferasetransmembrane protein 76 | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | Q13510 | Q68CP4 | |
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000417108, ENST00000520051, ENST00000262097, ENST00000314146, ENST00000381733, ENST00000520781, | ENST00000297798, ENST00000379644, ENST00000458501, ENST00000521576, |
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 15 X 16 X 7=1680 | 12 X 13 X 4=624 |
# samples | 16 | 13 | |
** MAII score | log2(16/1680*10)=-3.39231742277876 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(13/624*10)=-2.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context (manual curation of fusion genes in FusionPDB) | PubMed: ASAH1 [Title/Abstract] AND HGSNAT [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | ASAH1(17933049)-HGSNAT(43054530), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | ASAH1-HGSNAT seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. ASAH1-HGSNAT seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. ASAH1-HGSNAT seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. ASAH1-HGSNAT seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. ASAH1-HGSNAT seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF. ASAH1-HGSNAT seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. |
* 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 | ASAH1 | GO:0046512 | sphingosine biosynthetic process | 12815059 |
Hgene | ASAH1 | GO:0046513 | ceramide biosynthetic process | 12764132|12815059 |
Hgene | ASAH1 | GO:0046514 | ceramide catabolic process | 12815059 |
Tgene | HGSNAT | GO:0007041 | lysosomal transport | 20650889 |
Tgene | HGSNAT | GO:0051259 | protein complex oligomerization | 20650889 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Gene Sample Information |
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![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | STAD | TCGA-BR-A452 | ASAH1 | chr8 | 17933049 | - | HGSNAT | chr8 | 43054530 | + |
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Fusion ORF Analysis |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
ENST00000262097 | ASAH1 | chr8 | 17933049 | - | ENST00000379644 | HGSNAT | chr8 | 43054530 | + | 3905 | 437 | 1816 | 2460 | 214 |
ENST00000381733 | ASAH1 | chr8 | 17933049 | - | ENST00000379644 | HGSNAT | chr8 | 43054530 | + | 3808 | 340 | 1719 | 2363 | 214 |
ENST00000520781 | ASAH1 | chr8 | 17933049 | - | ENST00000379644 | HGSNAT | chr8 | 43054530 | + | 3905 | 437 | 1816 | 2460 | 214 |
ENST00000314146 | ASAH1 | chr8 | 17933049 | - | ENST00000379644 | HGSNAT | chr8 | 43054530 | + | 3825 | 357 | 1736 | 2380 | 214 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000262097 | ENST00000379644 | ASAH1 | chr8 | 17933049 | - | HGSNAT | chr8 | 43054530 | + | 0.7123546 | 0.28764543 |
ENST00000381733 | ENST00000379644 | ASAH1 | chr8 | 17933049 | - | HGSNAT | chr8 | 43054530 | + | 0.8276688 | 0.17233115 |
ENST00000520781 | ENST00000379644 | ASAH1 | chr8 | 17933049 | - | HGSNAT | chr8 | 43054530 | + | 0.7123546 | 0.28764543 |
ENST00000314146 | ENST00000379644 | ASAH1 | chr8 | 17933049 | - | HGSNAT | chr8 | 43054530 | + | 0.82275367 | 0.1772463 |
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Fusion Amino Acid Sequences |
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>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >6936_6936_1_ASAH1-HGSNAT_ASAH1_chr8_17933049_ENST00000262097_HGSNAT_chr8_43054530_ENST00000379644_length(amino acids)=214AA_BP= MYPPFPGEMALGLCRCFHPRHSMAAFGLFPALPSALNSHPACTCLLDPSTWRPAHVSGPALASSPQILSVFSLGFPGFVNGSCVSRYKPD IIFPPGLPPPDLPSSVSIFYLQLLCSHGHCCITESGPLLSFSNWPPSLVPHFLKSPVHCHQIKLSPARSPLSEKPPLTWKHHCLAHILTY -------------------------------------------------------------- >6936_6936_2_ASAH1-HGSNAT_ASAH1_chr8_17933049_ENST00000314146_HGSNAT_chr8_43054530_ENST00000379644_length(amino acids)=214AA_BP= MYPPFPGEMALGLCRCFHPRHSMAAFGLFPALPSALNSHPACTCLLDPSTWRPAHVSGPALASSPQILSVFSLGFPGFVNGSCVSRYKPD IIFPPGLPPPDLPSSVSIFYLQLLCSHGHCCITESGPLLSFSNWPPSLVPHFLKSPVHCHQIKLSPARSPLSEKPPLTWKHHCLAHILTY -------------------------------------------------------------- >6936_6936_3_ASAH1-HGSNAT_ASAH1_chr8_17933049_ENST00000381733_HGSNAT_chr8_43054530_ENST00000379644_length(amino acids)=214AA_BP= MYPPFPGEMALGLCRCFHPRHSMAAFGLFPALPSALNSHPACTCLLDPSTWRPAHVSGPALASSPQILSVFSLGFPGFVNGSCVSRYKPD IIFPPGLPPPDLPSSVSIFYLQLLCSHGHCCITESGPLLSFSNWPPSLVPHFLKSPVHCHQIKLSPARSPLSEKPPLTWKHHCLAHILTY -------------------------------------------------------------- >6936_6936_4_ASAH1-HGSNAT_ASAH1_chr8_17933049_ENST00000520781_HGSNAT_chr8_43054530_ENST00000379644_length(amino acids)=214AA_BP= MYPPFPGEMALGLCRCFHPRHSMAAFGLFPALPSALNSHPACTCLLDPSTWRPAHVSGPALASSPQILSVFSLGFPGFVNGSCVSRYKPD IIFPPGLPPPDLPSSVSIFYLQLLCSHGHCCITESGPLLSFSNWPPSLVPHFLKSPVHCHQIKLSPARSPLSEKPPLTWKHHCLAHILTY -------------------------------------------------------------- |
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Fusion Protein Functional Features |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr8:17933049/chr8:43054530) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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Hgene | Tgene |
ASAH1 | HGSNAT |
FUNCTION: Lysosomal ceramidase that hydrolyzes sphingolipid ceramides into sphingosine and free fatty acids at acidic pH (PubMed:10610716, PubMed:7744740, PubMed:15655246, PubMed:11451951). Ceramides, sphingosine, and its phosphorylated form sphingosine-1-phosphate are bioactive lipids that mediate cellular signaling pathways regulating several biological processes including cell proliferation, apoptosis and differentiation (PubMed:10610716). Has a higher catalytic efficiency towards C12-ceramides versus other ceramides (PubMed:7744740, PubMed:15655246). Also catalyzes the reverse reaction allowing the synthesis of ceramides from fatty acids and sphingosine (PubMed:12764132, PubMed:12815059). For the reverse synthetic reaction, the natural sphingosine D-erythro isomer is more efficiently utilized as a substrate compared to D-erythro-dihydrosphingosine and D-erythro-phytosphingosine, while the fatty acids with chain lengths of 12 or 14 carbons are the most efficiently used (PubMed:12764132). Has also an N-acylethanolamine hydrolase activity (PubMed:15655246). By regulating the levels of ceramides, sphingosine and sphingosine-1-phosphate in the epidermis, mediates the calcium-induced differentiation of epidermal keratinocytes (PubMed:17713573). Also indirectly regulates tumor necrosis factor/TNF-induced apoptosis (By similarity). By regulating the intracellular balance between ceramides and sphingosine, in adrenocortical cells, probably also acts as a regulator of steroidogenesis (PubMed:22261821). {ECO:0000250|UniProtKB:Q9WV54, ECO:0000269|PubMed:10610716, ECO:0000269|PubMed:11451951, ECO:0000269|PubMed:12764132, ECO:0000269|PubMed:12815059, ECO:0000269|PubMed:15655246, ECO:0000269|PubMed:17713573, ECO:0000269|PubMed:22261821, ECO:0000269|PubMed:7744740, ECO:0000303|PubMed:10610716}.; FUNCTION: [Isoform 2]: May directly regulate steroidogenesis by binding the nuclear receptor NR5A1 and negatively regulating its transcriptional activity. {ECO:0000305|PubMed:22927646}. | FUNCTION: Lysosomal acetyltransferase that acetylates the non-reducing terminal alpha-glucosamine residue of intralysosomal heparin or heparan sulfate, converting it into a substrate for luminal alpha-N-acetyl glucosaminidase. {ECO:0000269|PubMed:16960811, ECO:0000269|PubMed:17033958, ECO:0000269|PubMed:19823584, ECO:0000269|PubMed:20650889}. |
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- 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 |
Tgene | HGSNAT | chr8:17933049 | chr8:43054530 | ENST00000379644 | 16 | 18 | 624_635 | 575.3333333333334 | 636.0 | Region | Note=Lysosomal targeting region | |
Tgene | HGSNAT | chr8:17933049 | chr8:43054530 | ENST00000458501 | 16 | 18 | 624_635 | 603.3333333333334 | 664.0 | Region | Note=Lysosomal targeting region | |
Tgene | HGSNAT | chr8:17933049 | chr8:43054530 | ENST00000379644 | 16 | 18 | 586_592 | 575.3333333333334 | 636.0 | Topological domain | Cytoplasmic | |
Tgene | HGSNAT | chr8:17933049 | chr8:43054530 | ENST00000379644 | 16 | 18 | 614_634 | 575.3333333333334 | 636.0 | Topological domain | Lumenal%2C vesicle | |
Tgene | HGSNAT | chr8:17933049 | chr8:43054530 | ENST00000379644 | 16 | 18 | 656_663 | 575.3333333333334 | 636.0 | Topological domain | Cytoplasmic | |
Tgene | HGSNAT | chr8:17933049 | chr8:43054530 | ENST00000458501 | 16 | 18 | 614_634 | 603.3333333333334 | 664.0 | Topological domain | Lumenal%2C vesicle | |
Tgene | HGSNAT | chr8:17933049 | chr8:43054530 | ENST00000458501 | 16 | 18 | 656_663 | 603.3333333333334 | 664.0 | Topological domain | Cytoplasmic | |
Tgene | HGSNAT | chr8:17933049 | chr8:43054530 | ENST00000379644 | 16 | 18 | 593_613 | 575.3333333333334 | 636.0 | Transmembrane | Helical | |
Tgene | HGSNAT | chr8:17933049 | chr8:43054530 | ENST00000379644 | 16 | 18 | 635_655 | 575.3333333333334 | 636.0 | Transmembrane | Helical | |
Tgene | HGSNAT | chr8:17933049 | chr8:43054530 | ENST00000458501 | 16 | 18 | 635_655 | 603.3333333333334 | 664.0 | Transmembrane | Helical |
- 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 |
Tgene | HGSNAT | chr8:17933049 | chr8:43054530 | ENST00000379644 | 16 | 18 | 4_64 | 575.3333333333334 | 636.0 | Compositional bias | Note=Ala-rich | |
Tgene | HGSNAT | chr8:17933049 | chr8:43054530 | ENST00000458501 | 16 | 18 | 4_64 | 603.3333333333334 | 664.0 | Compositional bias | Note=Ala-rich | |
Tgene | HGSNAT | chr8:17933049 | chr8:43054530 | ENST00000379644 | 16 | 18 | 1_190 | 575.3333333333334 | 636.0 | Topological domain | Lumenal%2C vesicle | |
Tgene | HGSNAT | chr8:17933049 | chr8:43054530 | ENST00000379644 | 16 | 18 | 212_275 | 575.3333333333334 | 636.0 | Topological domain | Cytoplasmic | |
Tgene | HGSNAT | chr8:17933049 | chr8:43054530 | ENST00000379644 | 16 | 18 | 297_302 | 575.3333333333334 | 636.0 | Topological domain | Lumenal%2C vesicle | |
Tgene | HGSNAT | chr8:17933049 | chr8:43054530 | ENST00000379644 | 16 | 18 | 324_345 | 575.3333333333334 | 636.0 | Topological domain | Cytoplasmic | |
Tgene | HGSNAT | chr8:17933049 | chr8:43054530 | ENST00000379644 | 16 | 18 | 367_374 | 575.3333333333334 | 636.0 | Topological domain | Lumenal%2C vesicle | |
Tgene | HGSNAT | chr8:17933049 | chr8:43054530 | ENST00000379644 | 16 | 18 | 396_420 | 575.3333333333334 | 636.0 | Topological domain | Cytoplasmic | |
Tgene | HGSNAT | chr8:17933049 | chr8:43054530 | ENST00000379644 | 16 | 18 | 442_500 | 575.3333333333334 | 636.0 | Topological domain | Lumenal%2C vesicle | |
Tgene | HGSNAT | chr8:17933049 | chr8:43054530 | ENST00000379644 | 16 | 18 | 522_529 | 575.3333333333334 | 636.0 | Topological domain | Cytoplasmic | |
Tgene | HGSNAT | chr8:17933049 | chr8:43054530 | ENST00000379644 | 16 | 18 | 551_564 | 575.3333333333334 | 636.0 | Topological domain | Lumenal%2C vesicle | |
Tgene | HGSNAT | chr8:17933049 | chr8:43054530 | ENST00000458501 | 16 | 18 | 1_190 | 603.3333333333334 | 664.0 | Topological domain | Lumenal%2C vesicle | |
Tgene | HGSNAT | chr8:17933049 | chr8:43054530 | ENST00000458501 | 16 | 18 | 212_275 | 603.3333333333334 | 664.0 | Topological domain | Cytoplasmic | |
Tgene | HGSNAT | chr8:17933049 | chr8:43054530 | ENST00000458501 | 16 | 18 | 297_302 | 603.3333333333334 | 664.0 | Topological domain | Lumenal%2C vesicle | |
Tgene | HGSNAT | chr8:17933049 | chr8:43054530 | ENST00000458501 | 16 | 18 | 324_345 | 603.3333333333334 | 664.0 | Topological domain | Cytoplasmic | |
Tgene | HGSNAT | chr8:17933049 | chr8:43054530 | ENST00000458501 | 16 | 18 | 367_374 | 603.3333333333334 | 664.0 | Topological domain | Lumenal%2C vesicle | |
Tgene | HGSNAT | chr8:17933049 | chr8:43054530 | ENST00000458501 | 16 | 18 | 396_420 | 603.3333333333334 | 664.0 | Topological domain | Cytoplasmic | |
Tgene | HGSNAT | chr8:17933049 | chr8:43054530 | ENST00000458501 | 16 | 18 | 442_500 | 603.3333333333334 | 664.0 | Topological domain | Lumenal%2C vesicle | |
Tgene | HGSNAT | chr8:17933049 | chr8:43054530 | ENST00000458501 | 16 | 18 | 522_529 | 603.3333333333334 | 664.0 | Topological domain | Cytoplasmic | |
Tgene | HGSNAT | chr8:17933049 | chr8:43054530 | ENST00000458501 | 16 | 18 | 551_564 | 603.3333333333334 | 664.0 | Topological domain | Lumenal%2C vesicle | |
Tgene | HGSNAT | chr8:17933049 | chr8:43054530 | ENST00000458501 | 16 | 18 | 586_592 | 603.3333333333334 | 664.0 | Topological domain | Cytoplasmic | |
Tgene | HGSNAT | chr8:17933049 | chr8:43054530 | ENST00000379644 | 16 | 18 | 191_211 | 575.3333333333334 | 636.0 | Transmembrane | Helical | |
Tgene | HGSNAT | chr8:17933049 | chr8:43054530 | ENST00000379644 | 16 | 18 | 276_296 | 575.3333333333334 | 636.0 | Transmembrane | Helical | |
Tgene | HGSNAT | chr8:17933049 | chr8:43054530 | ENST00000379644 | 16 | 18 | 303_323 | 575.3333333333334 | 636.0 | Transmembrane | Helical | |
Tgene | HGSNAT | chr8:17933049 | chr8:43054530 | ENST00000379644 | 16 | 18 | 346_366 | 575.3333333333334 | 636.0 | Transmembrane | Helical | |
Tgene | HGSNAT | chr8:17933049 | chr8:43054530 | ENST00000379644 | 16 | 18 | 375_395 | 575.3333333333334 | 636.0 | Transmembrane | Helical | |
Tgene | HGSNAT | chr8:17933049 | chr8:43054530 | ENST00000379644 | 16 | 18 | 421_441 | 575.3333333333334 | 636.0 | Transmembrane | Helical | |
Tgene | HGSNAT | chr8:17933049 | chr8:43054530 | ENST00000379644 | 16 | 18 | 501_521 | 575.3333333333334 | 636.0 | Transmembrane | Helical | |
Tgene | HGSNAT | chr8:17933049 | chr8:43054530 | ENST00000379644 | 16 | 18 | 530_550 | 575.3333333333334 | 636.0 | Transmembrane | Helical | |
Tgene | HGSNAT | chr8:17933049 | chr8:43054530 | ENST00000379644 | 16 | 18 | 565_585 | 575.3333333333334 | 636.0 | Transmembrane | Helical | |
Tgene | HGSNAT | chr8:17933049 | chr8:43054530 | ENST00000458501 | 16 | 18 | 191_211 | 603.3333333333334 | 664.0 | Transmembrane | Helical | |
Tgene | HGSNAT | chr8:17933049 | chr8:43054530 | ENST00000458501 | 16 | 18 | 276_296 | 603.3333333333334 | 664.0 | Transmembrane | Helical | |
Tgene | HGSNAT | chr8:17933049 | chr8:43054530 | ENST00000458501 | 16 | 18 | 303_323 | 603.3333333333334 | 664.0 | Transmembrane | Helical | |
Tgene | HGSNAT | chr8:17933049 | chr8:43054530 | ENST00000458501 | 16 | 18 | 346_366 | 603.3333333333334 | 664.0 | Transmembrane | Helical | |
Tgene | HGSNAT | chr8:17933049 | chr8:43054530 | ENST00000458501 | 16 | 18 | 375_395 | 603.3333333333334 | 664.0 | Transmembrane | Helical | |
Tgene | HGSNAT | chr8:17933049 | chr8:43054530 | ENST00000458501 | 16 | 18 | 421_441 | 603.3333333333334 | 664.0 | Transmembrane | Helical | |
Tgene | HGSNAT | chr8:17933049 | chr8:43054530 | ENST00000458501 | 16 | 18 | 501_521 | 603.3333333333334 | 664.0 | Transmembrane | Helical | |
Tgene | HGSNAT | chr8:17933049 | chr8:43054530 | ENST00000458501 | 16 | 18 | 530_550 | 603.3333333333334 | 664.0 | Transmembrane | Helical | |
Tgene | HGSNAT | chr8:17933049 | chr8:43054530 | ENST00000458501 | 16 | 18 | 565_585 | 603.3333333333334 | 664.0 | Transmembrane | Helical | |
Tgene | HGSNAT | chr8:17933049 | chr8:43054530 | ENST00000458501 | 16 | 18 | 593_613 | 603.3333333333334 | 664.0 | Transmembrane | Helical |
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Fusion Protein-Protein Interaction |
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Gene | PPI interactors |
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Gene | STRING network |
ASAH1 | |
HGSNAT |
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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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Related Drugs to ASAH1-HGSNAT |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to ASAH1-HGSNAT |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Disease | Source | PMID |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |