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Fusion gene ID: 32596 |
FusionGeneSummary for SAMD8_ADK |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SAMD8_ADK | Fusion gene ID: 32596 | 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 | 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 | 20180523 | 20180523 | |
| UniProtAcc | Q96LT4 | P55263 | |
| Ensembl transtripts involved in fusion gene | ENST00000542569, ENST00000372687, ENST00000372690, | ENST00000539909, ENST00000286621, ENST00000372734, ENST00000541550, ENST00000467840, | |
| Fusion gene scores | * DoF score | 2 X 3 X 3=18 | 18 X 8 X 11=1584 |
| # samples | 3 | 21 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(21/1584*10)=-2.91511110241349 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] | ||
| 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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| 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 |
| Fusion gene information from three resources (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 | BLCA | TCGA-4Z-AA7Q-01A | SAMD8 | chr10 | 76871480 | + | ADK | chr10 | 76468079 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * 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 | ENST00000542569 | ENST00000539909 | 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 | ENST00000541550 | SAMD8 | chr10 | 76871480 | + | ADK | chr10 | 76468079 | + |
| 5UTR-intron | ENST00000542569 | ENST00000467840 | SAMD8 | chr10 | 76871480 | + | ADK | chr10 | 76468079 | + |
| 5UTR-3CDS | ENST00000372687 | ENST00000539909 | 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 | ENST00000541550 | SAMD8 | chr10 | 76871480 | + | ADK | chr10 | 76468079 | + |
| 5UTR-intron | ENST00000372687 | 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 | + |
| 5CDS-intron | ENST00000372690 | ENST00000467840 | SAMD8 | chr10 | 76871480 | + | ADK | chr10 | 76468079 | + |
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FusionProtFeatures for SAMD8_ADK |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SAMD8 | ADK |
| Sphingomyelin synthases synthesize sphingolipids throughtransfer of a phosphatidyl head group on to the primary hydroxylof ceramide. SAMD8 is an endoplasmic reticulum (ER) transferasethat has no sphingomyelin synthase activity but can convertphosphatidylethanolamine (PE) and ceramide to ceramidephosphoethanolamine (CPE) albeit with low product yield. Appearsto operate as a ceramide sensor to control ceramide homeostasis inthe endoplasmic reticulum rather than a converter of ceramides.Seems to be critical for the integrity of the early secretorypathway. {ECO:0000269|PubMed:19506037}. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * 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 SAMD8_ADK |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| >In-frame_SAMD8_ENST00000372690_chr10_76871480_+_ADK_ENST00000286621_chr10_76468079_+_99aa MPARSRHRPRLHSGSPPRAPPPPLEALHSGEAGRAPDSDGGSDADSEVGPGSPTRTAEVFCLNWSLTSLXLNVSVLATMQQASXLDGLAA >In-frame_SAMD8_ENST00000372690_chr10_76871480_+_ADK_ENST00000372734_chr10_76468079_+_99aa MPARSRHRPRLHSGSPPRAPPPPLEALHSGEAGRAPDSDGGSDADSEVGPGSPTRTAEVFCLNWSLTSLXLNVSVLATMQQASXLDGLAA >In-frame_SAMD8_ENST00000372690_chr10_76871480_+_ADK_ENST00000541550_chr10_76468079_+_99aa MPARSRHRPRLHSGSPPRAPPPPLEALHSGEAGRAPDSDGGSDADSEVGPGSPTRTAEVFCLNWSLTSLXLNVSVLATMQQASXLDGLAA |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_SAMD8_ENST00000372690_chr10_76871480_+_ADK_ENST00000286621_chr10_76468079_+_299nt ATGCCTGCGCGCAGTCGCCACCGCCCCCGCCTCCACTCCGGCTCCCCGCCCCGGGCTCCGCCCCCGCCGCTTGAGGCGCTTCACTCCGGC GAGGCGGGGAGGGCCCCGGACTCCGACGGCGGCTCGGACGCCGACTCGGAGGTGGGTCCGGGGAGCCCGACTCGGACCGCGGAGGTTTTC TGTCTCAACTGGTCTCTGACAAGCCTCTGACTGAATGTATCCGTGCTGGCCACTATGCAGCAAGCATCATAATTAGACGGACTGGCTGCA >In-frame_SAMD8_ENST00000372690_chr10_76871480_+_ADK_ENST00000372734_chr10_76468079_+_299nt ATGCCTGCGCGCAGTCGCCACCGCCCCCGCCTCCACTCCGGCTCCCCGCCCCGGGCTCCGCCCCCGCCGCTTGAGGCGCTTCACTCCGGC GAGGCGGGGAGGGCCCCGGACTCCGACGGCGGCTCGGACGCCGACTCGGAGGTGGGTCCGGGGAGCCCGACTCGGACCGCGGAGGTTTTC TGTCTCAACTGGTCTCTGACAAGCCTCTGACTGAATGTATCCGTGCTGGCCACTATGCAGCAAGCATCATAATTAGACGGACTGGCTGCA >In-frame_SAMD8_ENST00000372690_chr10_76871480_+_ADK_ENST00000541550_chr10_76468079_+_299nt ATGCCTGCGCGCAGTCGCCACCGCCCCCGCCTCCACTCCGGCTCCCCGCCCCGGGCTCCGCCCCCGCCGCTTGAGGCGCTTCACTCCGGC GAGGCGGGGAGGGCCCCGGACTCCGACGGCGGCTCGGACGCCGACTCGGAGGTGGGTCCGGGGAGCCCGACTCGGACCGCGGAGGTTTTC TGTCTCAACTGGTCTCTGACAAGCCTCTGACTGAATGTATCCGTGCTGGCCACTATGCAGCAAGCATCATAATTAGACGGACTGGCTGCA |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_SAMD8_ENST00000372690_chr10_76871480_+_ADK_ENST00000286621_chr10_76468079_+_407nt GGTAGGGCCCCGCCTCCCGAAGCAGTTCCGGTTCGGCTCCGAGCAGCTGCCGGCGCGGCGGTGACGGCGGCCGGGACGATGCCTGCGCGC AGTCGCCACCGCCCCCGCCTCCACTCCGGCTCCCCGCCCCGGGCTCCGCCCCCGCCGCTTGAGGCGCTTCACTCCGGCGAGGCGGGGAGG GCCCCGGACTCCGACGGCGGCTCGGACGCCGACTCGGAGGTGGGTCCGGGGAGCCCGACTCGGACCGCGGAGGTTTTCTGTCTCAACTGG TCTCTGACAAGCCTCTGACTGAATGTATCCGTGCTGGCCACTATGCAGCAAGCATCATAATTAGACGGACTGGCTGCACCTTTCCTGAGA >In-frame_SAMD8_ENST00000372690_chr10_76871480_+_ADK_ENST00000372734_chr10_76468079_+_1235nt GGTAGGGCCCCGCCTCCCGAAGCAGTTCCGGTTCGGCTCCGAGCAGCTGCCGGCGCGGCGGTGACGGCGGCCGGGACGATGCCTGCGCGC AGTCGCCACCGCCCCCGCCTCCACTCCGGCTCCCCGCCCCGGGCTCCGCCCCCGCCGCTTGAGGCGCTTCACTCCGGCGAGGCGGGGAGG GCCCCGGACTCCGACGGCGGCTCGGACGCCGACTCGGAGGTGGGTCCGGGGAGCCCGACTCGGACCGCGGAGGTTTTCTGTCTCAACTGG TCTCTGACAAGCCTCTGACTGAATGTATCCGTGCTGGCCACTATGCAGCAAGCATCATAATTAGACGGACTGGCTGCACCTTTCCTGAGA AGCCAGACTTCCACTGATGGAAGAGCTGAAAACACAAGCCCAGGAGTGCAGACACTGCCCTAATTGCTTCCTGAGAATTCCCATATTAAT AAAGAAGAAAATTATCTGCCATTTTTTCCTACTATAATAATGCTGAATCTTAATTTAGAGGGTACAAGGGTATGGTAATGCTTGTAGAAT CTTTATTATCTCAACAATCTAAAAAATGATGTTTATTTCCATAGTTTGATAGTGCCACTTAAATGCCAATTAAACAAGAATATAACATTT CAATAGAAATTTTTATTTCATTTTCAATTACTTTGTAAATTCGTGTGTATTTAGTACACTGATTTGTTTTTTTACATTTCTGCTTTGAAT GCAGATGCAATTTAATATAATAGATTTTTTAATGAATTAATCTTAACATAGTAATCTTTAGCTTTTTATACAAATATATTTAATTTAGGA GTATATGTGTGTCTATACACACACATACATAAATATACCACATATACACCTGATAGTCAAATAAGGTACAGAAATTTTATCTTGTCAATT ATGCCAAATAATCTCTTTAATGTGCACTCAAACATGTAATAAACTTTGGATAATTAAATAATGTGCCAAATTTAAGTTGTACCACAATAT TCAAATCATAGTCTTATGGAACTCTGTAATTGGACACAAACAAAAACTTGTCATATAGGAATTTTTTTCTGTCTTTTCCCTGTGTACAGC AAACTGAGGAAGAAAGATCATTATTTAATACTGGGCCCTGAAATGACACCCAATTTGTTAATGGAATTATGAAGAACAGCAATATAATAC >In-frame_SAMD8_ENST00000372690_chr10_76871480_+_ADK_ENST00000541550_chr10_76468079_+_470nt GGTAGGGCCCCGCCTCCCGAAGCAGTTCCGGTTCGGCTCCGAGCAGCTGCCGGCGCGGCGGTGACGGCGGCCGGGACGATGCCTGCGCGC AGTCGCCACCGCCCCCGCCTCCACTCCGGCTCCCCGCCCCGGGCTCCGCCCCCGCCGCTTGAGGCGCTTCACTCCGGCGAGGCGGGGAGG GCCCCGGACTCCGACGGCGGCTCGGACGCCGACTCGGAGGTGGGTCCGGGGAGCCCGACTCGGACCGCGGAGGTTTTCTGTCTCAACTGG TCTCTGACAAGCCTCTGACTGAATGTATCCGTGCTGGCCACTATGCAGCAAGCATCATAATTAGACGGACTGGCTGCACCTTTCCTGAGA AGCCAGACTTCCACTGATGGAAGAGCTGAAAACACAAGCCCAGGAGTGCAGACACTGCCCTAATTGCTTCCTGAGAATTCCCATATTAAT |
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FusionGenePPI for SAMD8_ADK |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| SAMD8 | TCTN3 | ADK | FICD, SRD5A3, ASS1, CAPG, DAZAP1, KYNU, LDHA, PIR, PTGR1, SOD1, NNMT, NQO1, PCBP1, PITPNB, RBM12, NPLOC4, FGB |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for SAMD8_ADK |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Tgene | ADK | P55263 | DB00811 | Ribavirin | Adenosine kinase | small molecule | approved |
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RelatedDiseases for SAMD8_ADK |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | ADK | C0036341 | Schizophrenia | 1 | PSYGENET |
| Tgene | ADK | C0242184 | Hypoxia | 1 | CTD_human |
| Tgene | ADK | C3280381 | HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY | 1 | CTD_human;ORPHANET;UNIPROT |
| Tgene | ADK | C3714756 | Intellectual Disability | 1 | CTD_human |
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