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Fusion gene ID: 34891 |
FusionGeneSummary for SMG1_EMC8 |
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Fusion gene information | Fusion gene name: SMG1_EMC8 | Fusion gene ID: 34891 | Hgene | Tgene | Gene symbol | SMG1 | EMC8 | Gene ID | 23049 | 10328 |
Gene name | SMG1, nonsense mediated mRNA decay associated PI3K related kinase | ER membrane protein complex subunit 8 | |
Synonyms | 61E3.4|ATX|LIP | C16orf2|C16orf4|COX4NB|FAM158B|NOC4 | |
Cytomap | 16p12.3 | 16q24.1 | |
Type of gene | protein-coding | protein-coding | |
Description | serine/threonine-protein kinase SMG1PI-3-kinase-related kinase SMG-1SMG1 phosphatidylinositol 3-kinase-related kinaselambda-interacting proteinlambda/iota protein kinase C-interacting proteinsmg-1 homolog, phosphatidylinositol 3-kinase-related kinase | ER membrane protein complex subunit 8COX4 neighborfamily with sequence similarity 158, member Bneighbor of COX4 | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q96Q15 | O43402 | |
Ensembl transtripts involved in fusion gene | ENST00000389467, ENST00000446231, ENST00000565224, ENST00000567737, | ENST00000253457, ENST00000435200, | |
Fusion gene scores | * DoF score | 14 X 10 X 7=980 | 6 X 6 X 5=180 |
# samples | 16 | 7 | |
** MAII score | log2(16/980*10)=-2.61470984411521 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/180*10)=-1.36257007938471 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: SMG1 [Title/Abstract] AND EMC8 [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | SMG1 | GO:0000184 | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 11544179 |
Hgene | SMG1 | GO:0018105 | peptidyl-serine phosphorylation | 11544179|15175154 |
Hgene | SMG1 | GO:0046777 | protein autophosphorylation | 11331269|11544179 |
Hgene | SMG1 | GO:0046854 | phosphatidylinositol phosphorylation | 11331269 |
Hgene | SMG1 | GO:2001020 | regulation of response to DNA damage stimulus | 15175154 |
![]() (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 | UCEC | TCGA-D1-A3JP-01A | SMG1 | chr16 | 18856751 | - | EMC8 | chr16 | 85805497 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 | ENST00000389467 | ENST00000253457 | SMG1 | chr16 | 18856751 | - | EMC8 | chr16 | 85805497 | - |
5CDS-intron | ENST00000389467 | ENST00000435200 | SMG1 | chr16 | 18856751 | - | EMC8 | chr16 | 85805497 | - |
5CDS-intron | ENST00000446231 | ENST00000253457 | SMG1 | chr16 | 18856751 | - | EMC8 | chr16 | 85805497 | - |
5CDS-intron | ENST00000446231 | ENST00000435200 | SMG1 | chr16 | 18856751 | - | EMC8 | chr16 | 85805497 | - |
intron-intron | ENST00000565224 | ENST00000253457 | SMG1 | chr16 | 18856751 | - | EMC8 | chr16 | 85805497 | - |
intron-intron | ENST00000565224 | ENST00000435200 | SMG1 | chr16 | 18856751 | - | EMC8 | chr16 | 85805497 | - |
intron-intron | ENST00000567737 | ENST00000253457 | SMG1 | chr16 | 18856751 | - | EMC8 | chr16 | 85805497 | - |
intron-intron | ENST00000567737 | ENST00000435200 | SMG1 | chr16 | 18856751 | - | EMC8 | chr16 | 85805497 | - |
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FusionProtFeatures for SMG1_EMC8 |
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Hgene | Tgene |
SMG1 | EMC8 |
Serine/threonine protein kinase involved in both mRNAsurveillance and genotoxic stress response pathways. Recognizesthe substrate consensus sequence [ST]-Q. Plays a central role innonsense-mediated decay (NMD) of mRNAs containing premature stopcodons by phosphorylating UPF1/RENT1. Recruited by release factorsto stalled ribosomes together with SMG8 and SMG9 (forming theSMG1C protein kinase complex), and UPF1 to form the transient SURF(SMG1-UPF1-eRF1-eRF3) complex. In EJC-dependent NMD, the SURFcomplex associates with the exon junction complex (EJC) throughUPF2 and allows the formation of an UPF1-UPF2-UPF3 surveillancecomplex which is believed to activate NMD. Also acts as agenotoxic stress-activated protein kinase that displays somefunctional overlap with ATM. Can phosphorylate p53/TP53 and isrequired for optimal p53/TP53 activation after cellular exposureto genotoxic stress. Its depletion leads to spontaneous DNA damageand increased sensitivity to ionizing radiation (IR). May activatePRKCI but not PRKCZ. {ECO:0000269|PubMed:11331269,ECO:0000269|PubMed:11544179, ECO:0000269|PubMed:15175154,ECO:0000269|PubMed:16452507}. |
![]() * 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 SMG1_EMC8 |
![]() (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 SMG1_EMC8 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
SMG1 | PRKCI, SMG1, UPF1, UPF2, UPF3A, TTI1, TELO2, ELAVL1, SMG8, SMG9, RBM8A, UPF3B, NCBP2, PABPC1, SMG7, EIF4A3, MAGOH, GSPT2, GSPT1, EEF2, HSP90AA1, HSPA4, RUVBL1, RUVBL2, POLR2E, TUBA1A, TUBG1, HAUS2, HTR6, HSP90B1, EGFR, EPHA1 | EMC8 | EMC2, APP, MOV10, NXF1, EMC7, UBQLN2, EMC3, EMC6, MMGT1, EMC1, EMC10, EMC4, KRT6A, FAM186B, KCNK16, SLC18A1, ENPP6, HTR3C, CLEC5A, TCTN2, TCTN3, TMEM237, TCTN1, TMEM17, TMEM216, NDUFA9, TRDN, BCL7A, GNRH1, LPAR1, TRIM25 |
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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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RelatedDrugs for SMG1_EMC8 |
![]() (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 SMG1_EMC8 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |