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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:AGPAT5-FDFT1 (FusionGDB2 ID:HG55326TG2222) |
Fusion Gene Summary for AGPAT5-FDFT1 |
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Fusion gene information | Fusion gene name: AGPAT5-FDFT1 | Fusion gene ID: hg55326tg2222 | Hgene | Tgene | Gene symbol | AGPAT5 | FDFT1 | Gene ID | 55326 | 2222 |
Gene name | 1-acylglycerol-3-phosphate O-acyltransferase 5 | farnesyl-diphosphate farnesyltransferase 1 | |
Synonyms | 1AGPAT5|LPAATE | DGPT|ERG9|SQS|SQSD|SS | |
Cytomap | ('AGPAT5')('FDFT1') 8p23.1 | 8p23.1 | |
Type of gene | protein-coding | protein-coding | |
Description | 1-acyl-sn-glycerol-3-phosphate acyltransferase epsilon1-AGP acyltransferase 51-AGPAT 51-acylglycerol-3-phosphate O-acyltransferase 5 (lysophosphatidic acid acyltransferase, epsilon)lysophosphatidic acid acyltransferase epsilontesticular tissue protei | squalene synthaseFPP:FPP farnesyltransferasepresqualene-di-diphosphate synthasesqualene synthetase | |
Modification date | 20200313 | 20200320 | |
UniProtAcc | Q9NUQ2 | P37268 | |
Ensembl transtripts involved in fusion gene | ENST00000285518, ENST00000530716, | ||
Fusion gene scores | * DoF score | 9 X 7 X 6=378 | 12 X 9 X 5=540 |
# samples | 9 | 11 | |
** MAII score | log2(9/378*10)=-2.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(11/540*10)=-2.29545588352617 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: AGPAT5 [Title/Abstract] AND FDFT1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | AGPAT5(6590171)-FDFT1(11689027), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | AGPAT5-FDFT1 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. AGPAT5-FDFT1 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. |
* 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 |
![]() * 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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![]() * 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-8372-01A | AGPAT5 | chr8 | 6590171 | + | FDFT1 | chr8 | 11689027 | + |
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Fusion Gene ORF analysis for AGPAT5-FDFT1 |
![]() * 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 |
5CDS-3UTR | ENST00000285518 | ENST00000443614 | AGPAT5 | chr8 | 6590171 | + | FDFT1 | chr8 | 11689027 | + |
5CDS-3UTR | ENST00000285518 | ENST00000446331 | AGPAT5 | chr8 | 6590171 | + | FDFT1 | chr8 | 11689027 | + |
5CDS-3UTR | ENST00000285518 | ENST00000525777 | AGPAT5 | chr8 | 6590171 | + | FDFT1 | chr8 | 11689027 | + |
5CDS-3UTR | ENST00000285518 | ENST00000525900 | AGPAT5 | chr8 | 6590171 | + | FDFT1 | chr8 | 11689027 | + |
5CDS-3UTR | ENST00000285518 | ENST00000528643 | AGPAT5 | chr8 | 6590171 | + | FDFT1 | chr8 | 11689027 | + |
5CDS-3UTR | ENST00000285518 | ENST00000528812 | AGPAT5 | chr8 | 6590171 | + | FDFT1 | chr8 | 11689027 | + |
5CDS-3UTR | ENST00000285518 | ENST00000530664 | AGPAT5 | chr8 | 6590171 | + | FDFT1 | chr8 | 11689027 | + |
In-frame | ENST00000285518 | ENST00000220584 | AGPAT5 | chr8 | 6590171 | + | FDFT1 | chr8 | 11689027 | + |
In-frame | ENST00000285518 | ENST00000538689 | AGPAT5 | chr8 | 6590171 | + | FDFT1 | chr8 | 11689027 | + |
intron-3CDS | ENST00000530716 | ENST00000220584 | AGPAT5 | chr8 | 6590171 | + | FDFT1 | chr8 | 11689027 | + |
intron-3CDS | ENST00000530716 | ENST00000538689 | AGPAT5 | chr8 | 6590171 | + | FDFT1 | chr8 | 11689027 | + |
intron-3UTR | ENST00000530716 | ENST00000443614 | AGPAT5 | chr8 | 6590171 | + | FDFT1 | chr8 | 11689027 | + |
intron-3UTR | ENST00000530716 | ENST00000446331 | AGPAT5 | chr8 | 6590171 | + | FDFT1 | chr8 | 11689027 | + |
intron-3UTR | ENST00000530716 | ENST00000525777 | AGPAT5 | chr8 | 6590171 | + | FDFT1 | chr8 | 11689027 | + |
intron-3UTR | ENST00000530716 | ENST00000525900 | AGPAT5 | chr8 | 6590171 | + | FDFT1 | chr8 | 11689027 | + |
intron-3UTR | ENST00000530716 | ENST00000528643 | AGPAT5 | chr8 | 6590171 | + | FDFT1 | chr8 | 11689027 | + |
intron-3UTR | ENST00000530716 | ENST00000528812 | AGPAT5 | chr8 | 6590171 | + | FDFT1 | chr8 | 11689027 | + |
intron-3UTR | ENST00000530716 | ENST00000530664 | AGPAT5 | chr8 | 6590171 | + | FDFT1 | chr8 | 11689027 | + |
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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) |
ENST00000285518 | AGPAT5 | chr8 | 6590171 | + | ENST00000538689 | FDFT1 | chr8 | 11689027 | + | 1540 | 807 | 231 | 1181 | 316 |
ENST00000285518 | AGPAT5 | chr8 | 6590171 | + | ENST00000220584 | FDFT1 | chr8 | 11689027 | + | 1882 | 807 | 231 | 1181 | 316 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000285518 | ENST00000538689 | AGPAT5 | chr8 | 6590171 | + | FDFT1 | chr8 | 11689027 | + | 0.002313243 | 0.99768674 |
ENST00000285518 | ENST00000220584 | AGPAT5 | chr8 | 6590171 | + | FDFT1 | chr8 | 11689027 | + | 0.001298608 | 0.99870133 |
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Fusion Genomic Features for AGPAT5-FDFT1 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
AGPAT5 | chr8 | 6590171 | + | FDFT1 | chr8 | 11689026 | + | 2.58E-12 | 1 |
AGPAT5 | chr8 | 6590171 | + | FDFT1 | chr8 | 11689026 | + | 2.58E-12 | 1 |
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Fusion Protein Features for AGPAT5-FDFT1 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr8:6590171/chr8:11689027) - 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 |
AGPAT5 | FDFT1 |
FUNCTION: Converts 1-acyl-sn-glycerol-3-phosphate (lysophosphatidic acid or LPA) into 1,2-diacyl-sn-glycerol-3-phosphate (phosphatidic acid or PA) by incorporating an acyl moiety at the sn-2 position of the glycerol backbone (PubMed:21173190). Acts on LPA containing saturated or unsaturated fatty acids C15:0-C20:4 at the sn-1 position using C18:1-CoA as the acyl donor (PubMed:21173190). Also acts on lysophosphatidylethanolamine using oleoyl-CoA, but not arachidonoyl-CoA, and lysophosphatidylinositol using arachidonoyl-CoA, but not oleoyl-CoA (PubMed:21173190). Activity toward lysophosphatidylglycerol not detectable (PubMed:21173190). {ECO:0000269|PubMed:21173190}. | FUNCTION: Catalyzes the condensation of 2 farnesyl pyrophosphate (FPP) moieties to form squalene. Proceeds in two distinct steps. In the first half-reaction, two molecules of FPP react to form the stable presqualene diphosphate intermediate (PSQPP), with concomitant release of a proton and a molecule of inorganic diphosphate. In the second half-reaction, PSQPP undergoes heterolysis, isomerization, and reduction with NADPH or NADH to form squalene. It is the first committed enzyme of the sterol biosynthesis pathway. {ECO:0000269|PubMed:10896663, ECO:0000269|PubMed:24531458}. |
![]() * 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 |
Hgene | AGPAT5 | chr8:6590171 | chr8:11689027 | ENST00000285518 | + | 4 | 8 | 93_98 | 165 | 365.0 | Motif | HXXXXD motif |
Hgene | AGPAT5 | chr8:6590171 | chr8:11689027 | ENST00000285518 | + | 4 | 8 | 15_35 | 165 | 365.0 | Transmembrane | Helical |
Hgene | AGPAT5 | chr8:6590171 | chr8:11689027 | ENST00000285518 | + | 4 | 8 | 61_81 | 165 | 365.0 | Transmembrane | Helical |
Tgene | FDFT1 | chr8:6590171 | chr8:11689027 | ENST00000220584 | 5 | 8 | 384_404 | 293 | 418.0 | Transmembrane | Helical |
- 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 |
Hgene | AGPAT5 | chr8:6590171 | chr8:11689027 | ENST00000285518 | + | 4 | 8 | 344_364 | 165 | 365.0 | Transmembrane | Helical |
Tgene | FDFT1 | chr8:6590171 | chr8:11689027 | ENST00000220584 | 5 | 8 | 284_304 | 293 | 418.0 | Transmembrane | Helical |
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Fusion Gene Sequence for AGPAT5-FDFT1 |
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>2963_2963_1_AGPAT5-FDFT1_AGPAT5_chr8_6590171_ENST00000285518_FDFT1_chr8_11689027_ENST00000220584_length(transcript)=1882nt_BP=807nt CGGAGCCCCCTGCCCCGGCAGGGGGATGTGGCGATGGGTGAGGGTCATGGGGTGTGAGCATCCCTGAGCCATCGATCCGGGAGGGCCGCG GGTTCCCTTGCTTTGCCGCCGGGAGCGGCGCACGCAGCCCCGCACTCGCCTACCCGGCCCCGGGCGGCGGCGCGGCCCATGCGGCTGGGG GCGGAGGCTGGGAGCGGGTGGCGGGCGCGGCGGCCCGGGCCCGGGCGGTGATTGGCCGCCTGCTGGCCGCGACTGAGGCCCGGGAGGCGG GCGGGGAGCGCAGGCGGAGCTCGCTGCCGCCGAGCTGAGAAGATGCTGCTGTCCCTGGTGCTCCACACGTACTCCATGCGCTACCTGCTG CCCAGCGTCGTGCTCCTGGGCACGGCGCCCACCTACGTGTTGGCCTGGGGGGTCTGGCGGCTGCTCTCCGCCTTCCTGCCCGCCCGCTTC TACCAAGCGCTGGACGACCGGCTCTACTGCGTCTACCAGAGCATGGTGCTCTTCTTCTTCGAGAATTACACCGGGGTCCAGATATTGCTA TATGGAGATTTGCCAAAAAATAAAGAAAATATAATATATTTAGCAAATCATCAAAGCACAGTTGACTGGATTGTTGCTGACATCTTGGCC ATCAGGCAGAATGCGCTAGGACATGTGCGCTACGTGCTGAAAGAAGGGTTAAAATGGCTGCCATTGTATGGGTGTTACTTTGCTCAGCAT GGAGGAATCTATGTAAAGCGCAGTGCCAAATTTAACGAGAAAGAGATGCGAAACAAGTTGCAGAGCTACGTGGACGCAGGAACTCCAGTG ATGGCCATTGCCACTTTGGCTGCCTGTTATAATAACCAGCAGGTGTTCAAAGGGGCAGTGAAGATTCGGAAAGGGCAAGCAGTGACCCTG ATGATGGATGCCACCAATATGCCAGCTGTCAAAGCCATCATATATCAGTATATGGAAGAGATTTATCATAGAATCCCCGACTCAGACCCA TCTTCTAGCAAAACAAGGCAGATCATCTCCACCATCCGGACGCAGAATCTTCCCAACTGTCAGCTGATTTCCCGAAGCCACTACTCCCCC ATCTACCTGTCGTTTGTCATGCTTTTGGCTGCCCTGAGCTGGCAGTACCTGACCACTCTCTCCCAGGTAACAGAAGACTATGTTCAGACT GGAGAACACTGATCCCAAATTTGTCCATAGCTGAAGTCCACCATAAAGTGGATTTACTTTTTTTCTTTAAGGATGGATGTTGTGTTCTCT TTATTTTTTTCCTACTACTTTAATCCCTAAAAGAACGCTGTGTGGCTGGGACCTTTAGGAAAGTGAAATGCAGGTGAGAAGAACCTAAAC ATGAAAGGAAAGGGTGCCTCATCCCAGCAACCTGTCCTTGTGGGTGATGATCACTGTGCTGCTTGTGGCTCATGGCAGAGCATTCAGTGC CACGGTTTAGGTGAAGTCGCTGCATATGTGACTGTCATGAGATCCTACTTAGTATGATCCTGGCTAGAATGATAATTAAAAGTATTTAAT TTGAAGCACCATTTGAATGTTCGTAATAGTAGAAAATGATGTGAATTTTCTTTCTGTTCGGCTCCTATTTTTCTCATCATTTTGTTTTCT TTAATTGGGTTGAATGGAGTAGATAGAAATATTTATGGTTTAGGTAACAGTTAGATGTTTCCTAAGAATGCAAACTGCCTTTTCCACACA AAGGCTGGGAATAAAATTCTGGGTATTCTCGTATTCTCATTTAAAGGAGTTTAGCTTTCAGAGAGAAACAGCAGGATTGCTTTTGACCTT TTAGAAGATTGGTCTCCAGTAAAGGTGGACATTTTTGAGATTTTTATAATAAAGAATTTAATTGCTCTGCATTTGTCAAGTA >2963_2963_1_AGPAT5-FDFT1_AGPAT5_chr8_6590171_ENST00000285518_FDFT1_chr8_11689027_ENST00000220584_length(amino acids)=316AA_BP=192 MAACWPRLRPGRRAGSAGGARCRRAEKMLLSLVLHTYSMRYLLPSVVLLGTAPTYVLAWGVWRLLSAFLPARFYQALDDRLYCVYQSMVL FFFENYTGVQILLYGDLPKNKENIIYLANHQSTVDWIVADILAIRQNALGHVRYVLKEGLKWLPLYGCYFAQHGGIYVKRSAKFNEKEMR NKLQSYVDAGTPVMAIATLAACYNNQQVFKGAVKIRKGQAVTLMMDATNMPAVKAIIYQYMEEIYHRIPDSDPSSSKTRQIISTIRTQNL PNCQLISRSHYSPIYLSFVMLLAALSWQYLTTLSQVTEDYVQTGEH -------------------------------------------------------------- >2963_2963_2_AGPAT5-FDFT1_AGPAT5_chr8_6590171_ENST00000285518_FDFT1_chr8_11689027_ENST00000538689_length(transcript)=1540nt_BP=807nt CGGAGCCCCCTGCCCCGGCAGGGGGATGTGGCGATGGGTGAGGGTCATGGGGTGTGAGCATCCCTGAGCCATCGATCCGGGAGGGCCGCG GGTTCCCTTGCTTTGCCGCCGGGAGCGGCGCACGCAGCCCCGCACTCGCCTACCCGGCCCCGGGCGGCGGCGCGGCCCATGCGGCTGGGG GCGGAGGCTGGGAGCGGGTGGCGGGCGCGGCGGCCCGGGCCCGGGCGGTGATTGGCCGCCTGCTGGCCGCGACTGAGGCCCGGGAGGCGG GCGGGGAGCGCAGGCGGAGCTCGCTGCCGCCGAGCTGAGAAGATGCTGCTGTCCCTGGTGCTCCACACGTACTCCATGCGCTACCTGCTG CCCAGCGTCGTGCTCCTGGGCACGGCGCCCACCTACGTGTTGGCCTGGGGGGTCTGGCGGCTGCTCTCCGCCTTCCTGCCCGCCCGCTTC TACCAAGCGCTGGACGACCGGCTCTACTGCGTCTACCAGAGCATGGTGCTCTTCTTCTTCGAGAATTACACCGGGGTCCAGATATTGCTA TATGGAGATTTGCCAAAAAATAAAGAAAATATAATATATTTAGCAAATCATCAAAGCACAGTTGACTGGATTGTTGCTGACATCTTGGCC ATCAGGCAGAATGCGCTAGGACATGTGCGCTACGTGCTGAAAGAAGGGTTAAAATGGCTGCCATTGTATGGGTGTTACTTTGCTCAGCAT GGAGGAATCTATGTAAAGCGCAGTGCCAAATTTAACGAGAAAGAGATGCGAAACAAGTTGCAGAGCTACGTGGACGCAGGAACTCCAGTG ATGGCCATTGCCACTTTGGCTGCCTGTTATAATAACCAGCAGGTGTTCAAAGGGGCAGTGAAGATTCGGAAAGGGCAAGCAGTGACCCTG ATGATGGATGCCACCAATATGCCAGCTGTCAAAGCCATCATATATCAGTATATGGAAGAGATTTATCATAGAATCCCCGACTCAGACCCA TCTTCTAGCAAAACAAGGCAGATCATCTCCACCATCCGGACGCAGAATCTTCCCAACTGTCAGCTGATTTCCCGAAGCCACTACTCCCCC ATCTACCTGTCGTTTGTCATGCTTTTGGCTGCCCTGAGCTGGCAGTACCTGACCACTCTCTCCCAGGTAACAGAAGACTATGTTCAGACT GGAGAACACTGATCCCAAATTTGTCCATAGCTGAAGTCCACCATAAAGTGGATTTACTTTTTTTCTTTAAGGATGGATGTTGTGTTCTCT TTATTTTTTTCCTACTACTTTAATCCCTAAAAGAACGCTGTGTGGCTGGGACCTTTAGGAAAGTGAAATGCAGGTGAGAAGAACCTAAAC ATGAAAGGAAAGGGTGCCTCATCCCAGCAACCTGTCCTTGTGGGTGATGATCACTGTGCTGCTTGTGGCTCATGGCAGAGCATTCAGTGC CACGGTTTAGGTGAAGTCGCTGCATATGTGACTGTCATGAGATCCTACTTAGTATGATCCTGGCTAGAATGATAATTAAAAGTATTTAAT TTGAAGCACC >2963_2963_2_AGPAT5-FDFT1_AGPAT5_chr8_6590171_ENST00000285518_FDFT1_chr8_11689027_ENST00000538689_length(amino acids)=316AA_BP=192 MAACWPRLRPGRRAGSAGGARCRRAEKMLLSLVLHTYSMRYLLPSVVLLGTAPTYVLAWGVWRLLSAFLPARFYQALDDRLYCVYQSMVL FFFENYTGVQILLYGDLPKNKENIIYLANHQSTVDWIVADILAIRQNALGHVRYVLKEGLKWLPLYGCYFAQHGGIYVKRSAKFNEKEMR NKLQSYVDAGTPVMAIATLAACYNNQQVFKGAVKIRKGQAVTLMMDATNMPAVKAIIYQYMEEIYHRIPDSDPSSSKTRQIISTIRTQNL PNCQLISRSHYSPIYLSFVMLLAALSWQYLTTLSQVTEDYVQTGEH -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for AGPAT5-FDFT1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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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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Related Drugs for AGPAT5-FDFT1 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for AGPAT5-FDFT1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | C0006868 | Cannabis Abuse | 1 | CTD_human | |
Tgene | C0006870 | Cannabis Dependence | 1 | CTD_human | |
Tgene | C0009171 | Cocaine Abuse | 1 | CTD_human | |
Tgene | C0018614 | Hashish Abuse | 1 | CTD_human | |
Tgene | C0024809 | Marijuana Abuse | 1 | CTD_human | |
Tgene | C0031391 | Phencyclidine Abuse | 1 | CTD_human | |
Tgene | C0036572 | Seizures | 1 | GENOMICS_ENGLAND | |
Tgene | C0037268 | Skin Abnormalities | 1 | GENOMICS_ENGLAND | |
Tgene | C0234398 | Visual Cortex Disorder | 1 | GENOMICS_ENGLAND | |
Tgene | C0236735 | Cannabis-Related Disorder | 1 | CTD_human | |
Tgene | C0236736 | Cocaine-Related Disorders | 1 | CTD_human | |
Tgene | C0236742 | Phencyclidine-Related Disorders | 1 | CTD_human | |
Tgene | C0600427 | Cocaine Dependence | 1 | CTD_human | |
Tgene | C2239176 | Liver carcinoma | 1 | CTD_human | |
Tgene | C3553450 | Profound global developmental delay | 1 | GENOMICS_ENGLAND | |
Tgene | C3714756 | Intellectual Disability | 1 | GENOMICS_ENGLAND | |
Tgene | C4022810 | Abnormality of nervous system morphology | 1 | GENOMICS_ENGLAND | |
Tgene | C4025871 | Abnormality of the face | 1 | GENOMICS_ENGLAND | |
Tgene | C4048268 | Cortical visual impairment | 1 | GENOMICS_ENGLAND |