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Fusion gene ID: 14548 |
FusionGeneSummary for GDPD1_SMG8 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: GDPD1_SMG8 | Fusion gene ID: 14548 | Hgene | Tgene | Gene symbol | GDPD1 | SMG8 | Gene ID | 284161 | 55181 |
| Gene name | glycerophosphodiester phosphodiesterase domain containing 1 | SMG8, nonsense mediated mRNA decay factor | |
| Synonyms | GDE4 | C17orf71 | |
| Cytomap | 17q22 | 17q22 | |
| Type of gene | protein-coding | protein-coding | |
| Description | lysophospholipase D GDPD1glycerophosphodiester phosphodiesterase 4glycerophosphodiester phosphodiesterase domain-containing protein 1 | protein SMG8amplified in breast cancer gene 2 proteinprotein smg-8 homologsmg-8 homolog, nonsense mediated mRNA decay factor | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | Q8N9F7 | Q8ND04 | |
| Ensembl transtripts involved in fusion gene | ENST00000284116, ENST00000581140, ENST00000581276, | ENST00000543872, ENST00000578922, ENST00000300917, ENST00000580498, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 3 X 3 X 3=27 |
| # samples | 3 | 4 | |
| ** MAII score | log2(3/8*10)=1.90689059560852 | log2(4/27*10)=0.567040592723894 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: GDPD1 [Title/Abstract] AND SMG8 [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 |
| 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 | LD | BLCA | TCGA-GC-A3RD-01A | GDPD1 | chr17 | 57298112 | + | SMG8 | chr17 | 57292166 | + |
| TCGA | LD | BRCA | TCGA-A7-A56D-01A | GDPD1 | chr17 | 57298112 | + | SMG8 | chr17 | 57292166 | + |
| * 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 |
| Frame-shift | ENST00000284116 | ENST00000543872 | GDPD1 | chr17 | 57298112 | + | SMG8 | chr17 | 57292166 | + |
| 5CDS-intron | ENST00000284116 | ENST00000578922 | GDPD1 | chr17 | 57298112 | + | SMG8 | chr17 | 57292166 | + |
| 5CDS-intron | ENST00000284116 | ENST00000300917 | GDPD1 | chr17 | 57298112 | + | SMG8 | chr17 | 57292166 | + |
| 5CDS-intron | ENST00000284116 | ENST00000580498 | GDPD1 | chr17 | 57298112 | + | SMG8 | chr17 | 57292166 | + |
| Frame-shift | ENST00000581140 | ENST00000543872 | GDPD1 | chr17 | 57298112 | + | SMG8 | chr17 | 57292166 | + |
| 5CDS-intron | ENST00000581140 | ENST00000578922 | GDPD1 | chr17 | 57298112 | + | SMG8 | chr17 | 57292166 | + |
| 5CDS-intron | ENST00000581140 | ENST00000300917 | GDPD1 | chr17 | 57298112 | + | SMG8 | chr17 | 57292166 | + |
| 5CDS-intron | ENST00000581140 | ENST00000580498 | GDPD1 | chr17 | 57298112 | + | SMG8 | chr17 | 57292166 | + |
| Frame-shift | ENST00000581276 | ENST00000543872 | GDPD1 | chr17 | 57298112 | + | SMG8 | chr17 | 57292166 | + |
| 5CDS-intron | ENST00000581276 | ENST00000578922 | GDPD1 | chr17 | 57298112 | + | SMG8 | chr17 | 57292166 | + |
| 5CDS-intron | ENST00000581276 | ENST00000300917 | GDPD1 | chr17 | 57298112 | + | SMG8 | chr17 | 57292166 | + |
| 5CDS-intron | ENST00000581276 | ENST00000580498 | GDPD1 | chr17 | 57298112 | + | SMG8 | chr17 | 57292166 | + |
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FusionProtFeatures for GDPD1_SMG8 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| GDPD1 | SMG8 |
| Hydrolyzes lysoglycerophospholipids to producelysophosphatidic acid (LPA) and the corresponding amines. Shows apreference for 1-O-alkyl-sn-glycero-3-phosphocholine (lyso-PAF),lysophosphatidylethanolamine (lyso-PE) and lysophosphatidylcholine(lyso-PC). May be involved in bioactive N-acylethanolaminebiosynthesis. Does not display glycerophosphodiesterphosphodiesterase activity, since it cannot hydrolyze eitherglycerophosphoinositol or glycerophosphocholine.{ECO:0000250|UniProtKB:Q9CRY7}. | Involved in nonsense-mediated decay (NMD) of mRNAscontaining premature stop codons. Is recruited by release factorsto stalled ribosomes together with SMG1 and SMG9 (forming theSMG1C protein kinase complex) and, in the SMG1C complex, isrequired to mediate the recruitment of SMG1 to the ribosome:SURFcomplex and to suppress SMG1 kinase activity until theribosome:SURF complex locates the exon junction complex (EJC).Acts as a regulator of kinase activity.{ECO:0000269|PubMed:19417104}. |
| 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 GDPD1_SMG8 |
| 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. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for GDPD1_SMG8 |
| 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 |
| GDPD1 | TSPAN5, TF, C3, ALB, SERPINA3, ITIH2, APOA1, A2M, IGHG2, IGHG1, APOA4, CP, HP, SERPINA1, CFB, HBD, HBB, APOA2, HBA2, AHSG, HPX, A1BG, C4A, ORM2, ORM1, IGHA1, KNG1 | SMG8 | SMG1, SMG9, UPF1, RBM8A, RUVBL1, SDF4, DLK1, TSSC1, TSC22D4, FAM160B2, NAAA, THBS3, NTRK1, LRRC49, NICN1, TKT, HSP90AA4P, CDC16, EPHA1, IL17RA, NCAPH2, BBS7, DNAJC7, P4HA2, CRYL1, PDDC1, IARS2, F9, LYPD4, AZIN2, DOCK5, TPGS1 |
| - 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 GDPD1_SMG8 |
| 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 |
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RelatedDiseases for GDPD1_SMG8 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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