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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:SAMD8-ADK (FusionGDB2 ID:HG142891TG132) |
Fusion Gene Summary for SAMD8-ADK |
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Fusion gene information | Fusion gene name: SAMD8-ADK | Fusion gene ID: hg142891tg132 | Hgene | Tgene | Gene symbol | SAMD8 | ADK | Gene ID | 142891 | 132 |
Gene name | sterile alpha motif domain containing 8 | adenosine kinase | |
Synonyms | HEL-177|SMSr | AK | |
Cytomap | ('SAMD8')('ADK') 10q22.2 | 10q22.2|10q11-q24 | |
Type of gene | protein-coding | protein-coding | |
Description | sphingomyelin synthase-related protein 1CPE synthaseHEL-S-181mPSAM domain-containing protein 8ceramide phosphoethanolamine synthaseepididymis luminal protein 177epididymis secretory sperm binding protein Li 181mPsphingomyelin synthase relatedsteri | adenosine kinaseadenosine 5'-phosphotransferasetesticular tissue protein Li 14 | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | . | P55263 | |
Ensembl transtripts involved in fusion gene | ENST00000372690, ENST00000372687, ENST00000542569, | ||
Fusion gene scores | * DoF score | 6 X 6 X 5=180 | 30 X 17 X 14=7140 |
# samples | 8 | 64 | |
** MAII score | log2(8/180*10)=-1.16992500144231 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(64/7140*10)=-3.4797802640291 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: SAMD8 [Title/Abstract] AND ADK [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | SAMD8(76871480)-ADK(76468079), # samples:2 | ||
Anticipated loss of major functional domain due to fusion event. | SAMD8-ADK 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. SAMD8-ADK 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. SAMD8-ADK seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. SAMD8-ADK seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF. SAMD8-ADK seems lost the major protein functional domain in Tgene 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 | SAMD8 | GO:0046513 | ceramide biosynthetic process | 19506037 |
Hgene | SAMD8 | GO:2000303 | regulation of ceramide biosynthetic process | 19506037 |
![]() * 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 | BLCA | TCGA-4Z-AA7Q-01A | SAMD8 | chr10 | 76871480 | - | ADK | chr10 | 76468079 | + |
ChimerDB4 | BLCA | TCGA-4Z-AA7Q-01A | SAMD8 | chr10 | 76871480 | + | ADK | chr10 | 76468079 | + |
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Fusion Gene ORF analysis for SAMD8-ADK |
![]() * 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-intron | ENST00000372690 | ENST00000467840 | SAMD8 | chr10 | 76871480 | + | ADK | chr10 | 76468079 | + |
5UTR-3CDS | ENST00000372687 | ENST00000286621 | SAMD8 | chr10 | 76871480 | + | ADK | chr10 | 76468079 | + |
5UTR-3CDS | ENST00000372687 | ENST00000372734 | SAMD8 | chr10 | 76871480 | + | ADK | chr10 | 76468079 | + |
5UTR-3CDS | ENST00000372687 | ENST00000539909 | SAMD8 | chr10 | 76871480 | + | ADK | chr10 | 76468079 | + |
5UTR-3CDS | ENST00000372687 | ENST00000541550 | SAMD8 | chr10 | 76871480 | + | ADK | chr10 | 76468079 | + |
5UTR-3CDS | ENST00000542569 | ENST00000286621 | SAMD8 | chr10 | 76871480 | + | ADK | chr10 | 76468079 | + |
5UTR-3CDS | ENST00000542569 | ENST00000372734 | SAMD8 | chr10 | 76871480 | + | ADK | chr10 | 76468079 | + |
5UTR-3CDS | ENST00000542569 | ENST00000539909 | SAMD8 | chr10 | 76871480 | + | ADK | chr10 | 76468079 | + |
5UTR-3CDS | ENST00000542569 | ENST00000541550 | SAMD8 | chr10 | 76871480 | + | ADK | chr10 | 76468079 | + |
5UTR-intron | ENST00000372687 | ENST00000467840 | SAMD8 | chr10 | 76871480 | + | ADK | chr10 | 76468079 | + |
5UTR-intron | ENST00000542569 | ENST00000467840 | SAMD8 | chr10 | 76871480 | + | ADK | chr10 | 76468079 | + |
Frame-shift | ENST00000372690 | ENST00000539909 | SAMD8 | chr10 | 76871480 | + | ADK | chr10 | 76468079 | + |
In-frame | ENST00000372690 | ENST00000286621 | SAMD8 | chr10 | 76871480 | + | ADK | chr10 | 76468079 | + |
In-frame | ENST00000372690 | ENST00000372734 | SAMD8 | chr10 | 76871480 | + | ADK | chr10 | 76468079 | + |
In-frame | ENST00000372690 | ENST00000541550 | SAMD8 | chr10 | 76871480 | + | ADK | chr10 | 76468079 | + |
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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) |
ENST00000372690 | SAMD8 | chr10 | 76871480 | + | ENST00000286621 | ADK | chr10 | 76468079 | + | 407 | 252 | 78 | 287 | 69 |
ENST00000372690 | SAMD8 | chr10 | 76871480 | + | ENST00000372734 | ADK | chr10 | 76468079 | + | 1235 | 252 | 78 | 287 | 69 |
ENST00000372690 | SAMD8 | chr10 | 76871480 | + | ENST00000541550 | ADK | chr10 | 76468079 | + | 470 | 252 | 78 | 287 | 69 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000372690 | ENST00000286621 | SAMD8 | chr10 | 76871480 | + | ADK | chr10 | 76468079 | + | 0.060365953 | 0.939634 |
ENST00000372690 | ENST00000372734 | SAMD8 | chr10 | 76871480 | + | ADK | chr10 | 76468079 | + | 0.82555735 | 0.17444265 |
ENST00000372690 | ENST00000541550 | SAMD8 | chr10 | 76871480 | + | ADK | chr10 | 76468079 | + | 0.11926996 | 0.88073 |
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Fusion Genomic Features for SAMD8-ADK |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
SAMD8 | chr10 | 76871480 | + | ADK | chr10 | 76468078 | + | 9.71E-11 | 1 |
SAMD8 | chr10 | 76871480 | + | ADK | chr10 | 76468078 | + | 9.71E-11 | 1 |
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Fusion Protein Features for SAMD8-ADK |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr10:76871480/chr10:76468079) - 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 |
. | ADK |
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. | FUNCTION: ATP dependent phosphorylation of adenosine and other related nucleoside analogs to monophosphate derivatives. Serves as a potential regulator of concentrations of extracellular adenosine and intracellular adenine nucleotides. |
![]() * 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 |
Hgene | SAMD8 | chr10:76871480 | chr10:76468079 | ENST00000372687 | + | 1 | 5 | 12_78 | 0 | 327.0 | Domain | SAM |
Hgene | SAMD8 | chr10:76871480 | chr10:76468079 | ENST00000372690 | + | 1 | 6 | 12_78 | 58 | 479.0 | Domain | SAM |
Hgene | SAMD8 | chr10:76871480 | chr10:76468079 | ENST00000542569 | + | 1 | 6 | 12_78 | 0 | 416.0 | Domain | SAM |
Hgene | SAMD8 | chr10:76871480 | chr10:76468079 | ENST00000372687 | + | 1 | 5 | 368_415 | 0 | 327.0 | Topological domain | Cytoplasmic |
Hgene | SAMD8 | chr10:76871480 | chr10:76468079 | ENST00000372690 | + | 1 | 6 | 368_415 | 58 | 479.0 | Topological domain | Cytoplasmic |
Hgene | SAMD8 | chr10:76871480 | chr10:76468079 | ENST00000542569 | + | 1 | 6 | 368_415 | 0 | 416.0 | Topological domain | Cytoplasmic |
Hgene | SAMD8 | chr10:76871480 | chr10:76468079 | ENST00000372687 | + | 1 | 5 | 153_173 | 0 | 327.0 | Transmembrane | Helical |
Hgene | SAMD8 | chr10:76871480 | chr10:76468079 | ENST00000372687 | + | 1 | 5 | 201_221 | 0 | 327.0 | Transmembrane | Helical |
Hgene | SAMD8 | chr10:76871480 | chr10:76468079 | ENST00000372687 | + | 1 | 5 | 232_252 | 0 | 327.0 | Transmembrane | Helical |
Hgene | SAMD8 | chr10:76871480 | chr10:76468079 | ENST00000372687 | + | 1 | 5 | 277_297 | 0 | 327.0 | Transmembrane | Helical |
Hgene | SAMD8 | chr10:76871480 | chr10:76468079 | ENST00000372687 | + | 1 | 5 | 322_342 | 0 | 327.0 | Transmembrane | Helical |
Hgene | SAMD8 | chr10:76871480 | chr10:76468079 | ENST00000372687 | + | 1 | 5 | 347_367 | 0 | 327.0 | Transmembrane | Helical |
Hgene | SAMD8 | chr10:76871480 | chr10:76468079 | ENST00000372690 | + | 1 | 6 | 153_173 | 58 | 479.0 | Transmembrane | Helical |
Hgene | SAMD8 | chr10:76871480 | chr10:76468079 | ENST00000372690 | + | 1 | 6 | 201_221 | 58 | 479.0 | Transmembrane | Helical |
Hgene | SAMD8 | chr10:76871480 | chr10:76468079 | ENST00000372690 | + | 1 | 6 | 232_252 | 58 | 479.0 | Transmembrane | Helical |
Hgene | SAMD8 | chr10:76871480 | chr10:76468079 | ENST00000372690 | + | 1 | 6 | 277_297 | 58 | 479.0 | Transmembrane | Helical |
Hgene | SAMD8 | chr10:76871480 | chr10:76468079 | ENST00000372690 | + | 1 | 6 | 322_342 | 58 | 479.0 | Transmembrane | Helical |
Hgene | SAMD8 | chr10:76871480 | chr10:76468079 | ENST00000372690 | + | 1 | 6 | 347_367 | 58 | 479.0 | Transmembrane | Helical |
Hgene | SAMD8 | chr10:76871480 | chr10:76468079 | ENST00000542569 | + | 1 | 6 | 153_173 | 0 | 416.0 | Transmembrane | Helical |
Hgene | SAMD8 | chr10:76871480 | chr10:76468079 | ENST00000542569 | + | 1 | 6 | 201_221 | 0 | 416.0 | Transmembrane | Helical |
Hgene | SAMD8 | chr10:76871480 | chr10:76468079 | ENST00000542569 | + | 1 | 6 | 232_252 | 0 | 416.0 | Transmembrane | Helical |
Hgene | SAMD8 | chr10:76871480 | chr10:76468079 | ENST00000542569 | + | 1 | 6 | 277_297 | 0 | 416.0 | Transmembrane | Helical |
Hgene | SAMD8 | chr10:76871480 | chr10:76468079 | ENST00000542569 | + | 1 | 6 | 322_342 | 0 | 416.0 | Transmembrane | Helical |
Hgene | SAMD8 | chr10:76871480 | chr10:76468079 | ENST00000542569 | + | 1 | 6 | 347_367 | 0 | 416.0 | Transmembrane | Helical |
Tgene | ADK | chr10:76871480 | chr10:76468079 | ENST00000286621 | 9 | 11 | 8_16 | 321 | 363.0 | Motif | Nuclear localization signal | |
Tgene | ADK | chr10:76871480 | chr10:76468079 | ENST00000372734 | 9 | 11 | 8_16 | 304 | 346.0 | Motif | Nuclear localization signal | |
Tgene | ADK | chr10:76871480 | chr10:76468079 | ENST00000539909 | 8 | 10 | 8_16 | 264 | 306.0 | Motif | Nuclear localization signal | |
Tgene | ADK | chr10:76871480 | chr10:76468079 | ENST00000541550 | 8 | 10 | 8_16 | 286 | 328.0 | Motif | Nuclear localization signal |
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Fusion Gene Sequence for SAMD8-ADK |
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>79100_79100_1_SAMD8-ADK_SAMD8_chr10_76871480_ENST00000372690_ADK_chr10_76468079_ENST00000286621_length(transcript)=407nt_BP=252nt GGTAGGGCCCCGCCTCCCGAAGCAGTTCCGGTTCGGCTCCGAGCAGCTGCCGGCGCGGCGGTGACGGCGGCCGGGACGATGCCTGCGCGC AGTCGCCACCGCCCCCGCCTCCACTCCGGCTCCCCGCCCCGGGCTCCGCCCCCGCCGCTTGAGGCGCTTCACTCCGGCGAGGCGGGGAGG GCCCCGGACTCCGACGGCGGCTCGGACGCCGACTCGGAGGTGGGTCCGGGGAGCCCGACTCGGACCGCGGAGGTTTTCTGTCTCAACTGG TCTCTGACAAGCCTCTGACTGAATGTATCCGTGCTGGCCACTATGCAGCAAGCATCATAATTAGACGGACTGGCTGCACCTTTCCTGAGA AGCCAGACTTCCACTGATGGAAGAGCTGAAAACACAAGCCCAGGAGT >79100_79100_1_SAMD8-ADK_SAMD8_chr10_76871480_ENST00000372690_ADK_chr10_76468079_ENST00000286621_length(amino acids)=69AA_BP= MPARSRHRPRLHSGSPPRAPPPPLEALHSGEAGRAPDSDGGSDADSEVGPGSPTRTAEVFCLNWSLTSL -------------------------------------------------------------- >79100_79100_2_SAMD8-ADK_SAMD8_chr10_76871480_ENST00000372690_ADK_chr10_76468079_ENST00000372734_length(transcript)=1235nt_BP=252nt GGTAGGGCCCCGCCTCCCGAAGCAGTTCCGGTTCGGCTCCGAGCAGCTGCCGGCGCGGCGGTGACGGCGGCCGGGACGATGCCTGCGCGC AGTCGCCACCGCCCCCGCCTCCACTCCGGCTCCCCGCCCCGGGCTCCGCCCCCGCCGCTTGAGGCGCTTCACTCCGGCGAGGCGGGGAGG GCCCCGGACTCCGACGGCGGCTCGGACGCCGACTCGGAGGTGGGTCCGGGGAGCCCGACTCGGACCGCGGAGGTTTTCTGTCTCAACTGG TCTCTGACAAGCCTCTGACTGAATGTATCCGTGCTGGCCACTATGCAGCAAGCATCATAATTAGACGGACTGGCTGCACCTTTCCTGAGA AGCCAGACTTCCACTGATGGAAGAGCTGAAAACACAAGCCCAGGAGTGCAGACACTGCCCTAATTGCTTCCTGAGAATTCCCATATTAAT AAAGAAGAAAATTATCTGCCATTTTTTCCTACTATAATAATGCTGAATCTTAATTTAGAGGGTACAAGGGTATGGTAATGCTTGTAGAAT CTTTATTATCTCAACAATCTAAAAAATGATGTTTATTTCCATAGTTTGATAGTGCCACTTAAATGCCAATTAAACAAGAATATAACATTT CAATAGAAATTTTTATTTCATTTTCAATTACTTTGTAAATTCGTGTGTATTTAGTACACTGATTTGTTTTTTTACATTTCTGCTTTGAAT GCAGATGCAATTTAATATAATAGATTTTTTAATGAATTAATCTTAACATAGTAATCTTTAGCTTTTTATACAAATATATTTAATTTAGGA GTATATGTGTGTCTATACACACACATACATAAATATACCACATATACACCTGATAGTCAAATAAGGTACAGAAATTTTATCTTGTCAATT ATGCCAAATAATCTCTTTAATGTGCACTCAAACATGTAATAAACTTTGGATAATTAAATAATGTGCCAAATTTAAGTTGTACCACAATAT TCAAATCATAGTCTTATGGAACTCTGTAATTGGACACAAACAAAAACTTGTCATATAGGAATTTTTTTCTGTCTTTTCCCTGTGTACAGC AAACTGAGGAAGAAAGATCATTATTTAATACTGGGCCCTGAAATGACACCCAATTTGTTAATGGAATTATGAAGAACAGCAATATAATAC ACTGAAGAATAACTTAGTATCAGAGACCAATAAATCACTTTTTTAAGGATGACAAAATGGTATAA >79100_79100_2_SAMD8-ADK_SAMD8_chr10_76871480_ENST00000372690_ADK_chr10_76468079_ENST00000372734_length(amino acids)=69AA_BP= MPARSRHRPRLHSGSPPRAPPPPLEALHSGEAGRAPDSDGGSDADSEVGPGSPTRTAEVFCLNWSLTSL -------------------------------------------------------------- >79100_79100_3_SAMD8-ADK_SAMD8_chr10_76871480_ENST00000372690_ADK_chr10_76468079_ENST00000541550_length(transcript)=470nt_BP=252nt GGTAGGGCCCCGCCTCCCGAAGCAGTTCCGGTTCGGCTCCGAGCAGCTGCCGGCGCGGCGGTGACGGCGGCCGGGACGATGCCTGCGCGC AGTCGCCACCGCCCCCGCCTCCACTCCGGCTCCCCGCCCCGGGCTCCGCCCCCGCCGCTTGAGGCGCTTCACTCCGGCGAGGCGGGGAGG GCCCCGGACTCCGACGGCGGCTCGGACGCCGACTCGGAGGTGGGTCCGGGGAGCCCGACTCGGACCGCGGAGGTTTTCTGTCTCAACTGG TCTCTGACAAGCCTCTGACTGAATGTATCCGTGCTGGCCACTATGCAGCAAGCATCATAATTAGACGGACTGGCTGCACCTTTCCTGAGA AGCCAGACTTCCACTGATGGAAGAGCTGAAAACACAAGCCCAGGAGTGCAGACACTGCCCTAATTGCTTCCTGAGAATTCCCATATTAAT AAAGAAGAAAATTATCTGCC >79100_79100_3_SAMD8-ADK_SAMD8_chr10_76871480_ENST00000372690_ADK_chr10_76468079_ENST00000541550_length(amino acids)=69AA_BP= MPARSRHRPRLHSGSPPRAPPPPLEALHSGEAGRAPDSDGGSDADSEVGPGSPTRTAEVFCLNWSLTSL -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for SAMD8-ADK |
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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 SAMD8-ADK |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | ADK | P55263 | DB00131 | Adenosine phosphate | Product of | Small molecule | Approved|Investigational|Nutraceutical |
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Related Diseases for SAMD8-ADK |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | C3280381 | HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY | 2 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C0003129 | Anoxemia | 1 | CTD_human | |
Tgene | C0003130 | Anoxia | 1 | CTD_human | |
Tgene | C0020796 | Profound Mental Retardation | 1 | CTD_human | |
Tgene | C0025363 | Mental Retardation, Psychosocial | 1 | CTD_human | |
Tgene | C0036341 | Schizophrenia | 1 | PSYGENET | |
Tgene | C0242184 | Hypoxia | 1 | CTD_human | |
Tgene | C0700292 | Hypoxemia | 1 | CTD_human | |
Tgene | C0917816 | Mental deficiency | 1 | CTD_human | |
Tgene | C3714756 | Intellectual Disability | 1 | CTD_human |