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Fusion gene ID: 34887 |
FusionGeneSummary for SMG1_COMMD1 |
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Fusion gene information | Fusion gene name: SMG1_COMMD1 | Fusion gene ID: 34887 | Hgene | Tgene | Gene symbol | SMG1 | COMMD1 | Gene ID | 23049 | 150684 |
Gene name | SMG1, nonsense mediated mRNA decay associated PI3K related kinase | copper metabolism domain containing 1 | |
Synonyms | 61E3.4|ATX|LIP | C2orf5|MURR1 | |
Cytomap | 16p12.3 | 2p15 | |
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 | COMM domain-containing protein 1copper metabolism (Murr1) domain containing 1copper metabolism gene MURR1protein Murr1 | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q96Q15 | Q8N668 | |
Ensembl transtripts involved in fusion gene | ENST00000389467, ENST00000446231, ENST00000565224, ENST00000567737, | ENST00000472729, ENST00000311832, ENST00000538736, | |
Fusion gene scores | * DoF score | 14 X 10 X 7=980 | 8 X 5 X 8=320 |
# samples | 16 | 13 | |
** MAII score | log2(16/980*10)=-2.61470984411521 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(13/320*10)=-1.29956028185891 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: SMG1 [Title/Abstract] AND COMMD1 [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 |
Tgene | COMMD1 | GO:0031398 | positive regulation of protein ubiquitination | 17183367|21741370 |
Tgene | COMMD1 | GO:0032088 | negative regulation of NF-kappaB transcription factor activity | 15799966|16573520 |
Tgene | COMMD1 | GO:0048227 | plasma membrane to endosome transport | 21741370 |
Tgene | COMMD1 | GO:0055070 | copper ion homeostasis | 14685266 |
Tgene | COMMD1 | GO:1902306 | negative regulation of sodium ion transmembrane transport | 14645214 |
Tgene | COMMD1 | GO:2000009 | negative regulation of protein localization to cell surface | 21741370 |
![]() (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 |
ChiTaRS3.1 | BG769973 | SMG1 | chr16 | 18819376 | - | COMMD1 | chr2 | 62357063 | - |
* 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 |
intron-intron | ENST00000389467 | ENST00000472729 | SMG1 | chr16 | 18819376 | - | COMMD1 | chr2 | 62357063 | - |
intron-intron | ENST00000389467 | ENST00000311832 | SMG1 | chr16 | 18819376 | - | COMMD1 | chr2 | 62357063 | - |
intron-intron | ENST00000389467 | ENST00000538736 | SMG1 | chr16 | 18819376 | - | COMMD1 | chr2 | 62357063 | - |
intron-intron | ENST00000446231 | ENST00000472729 | SMG1 | chr16 | 18819376 | - | COMMD1 | chr2 | 62357063 | - |
intron-intron | ENST00000446231 | ENST00000311832 | SMG1 | chr16 | 18819376 | - | COMMD1 | chr2 | 62357063 | - |
intron-intron | ENST00000446231 | ENST00000538736 | SMG1 | chr16 | 18819376 | - | COMMD1 | chr2 | 62357063 | - |
intron-intron | ENST00000565224 | ENST00000472729 | SMG1 | chr16 | 18819376 | - | COMMD1 | chr2 | 62357063 | - |
intron-intron | ENST00000565224 | ENST00000311832 | SMG1 | chr16 | 18819376 | - | COMMD1 | chr2 | 62357063 | - |
intron-intron | ENST00000565224 | ENST00000538736 | SMG1 | chr16 | 18819376 | - | COMMD1 | chr2 | 62357063 | - |
intron-intron | ENST00000567737 | ENST00000472729 | SMG1 | chr16 | 18819376 | - | COMMD1 | chr2 | 62357063 | - |
intron-intron | ENST00000567737 | ENST00000311832 | SMG1 | chr16 | 18819376 | - | COMMD1 | chr2 | 62357063 | - |
intron-intron | ENST00000567737 | ENST00000538736 | SMG1 | chr16 | 18819376 | - | COMMD1 | chr2 | 62357063 | - |
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FusionProtFeatures for SMG1_COMMD1 |
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Hgene | Tgene |
SMG1 | COMMD1 |
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}. | Proposed scaffold protein that is implicated in diversephysiological processes and whose function may be in part linkedto its ability to regulate ubiquitination of specific cellularproteins. Can modulate activity of cullin-RING E3 ubiquitin ligase(CRL) complexes by displacing CAND1; in vitro promotes CRL E3activity and dissociates CAND1 from CUL1 and CUL2(PubMed:21778237). Promotes ubiquitination of NF-kappa-B subunitRELA and its subsequent proteasomal degradation. Down-regulatesNF-kappa-B activity (PubMed:15799966, PubMed:17183367,PubMed:20048074). Involved in the regulation of membraneexpression and ubiquitination of SLC12A2 (PubMed:23515529).Modulates Na(+) transport in epithelial cells by regulation ofapical cell surface expression of amiloride-sensitive sodiumchannel (ENaC) subunits and by promoting their ubiquitinationpresumably involving NEDD4L. Promotes the localization of SCNN1Dto recycling endosomes (PubMed:14645214, PubMed:20237237,PubMed:21741370). Promotes CFTR cell surface expression throughregulation of its ubiquitination (PubMed:21483833). Down-regulatesSOD1 activity by interfering with its homodimerization(PubMed:20595380). Plays a role in copper ion homeostasis.Involved in copper-dependent ATP7A trafficking between the trans-Golgi network and vesicles in the cell periphery; the function isproposed to depend on its association within the CCC complex andcooperation with the WASH complex on early endosomes(PubMed:25355947). Can bind one copper ion per monomer(PubMed:17309234). May function to facilitate biliary copperexcretion within hepatocytes. Binds to phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) (PubMed:18940794). Involved in theregulation of HIF1A-mediated transcription; competes withARNT/Hif-1-beta for binding to HIF1A resulting in decreased DNAbinding and impaired transcriptional activation by HIF-1(PubMed:20458141). {ECO:0000269|PubMed:14645214,ECO:0000269|PubMed:14685266, ECO:0000269|PubMed:15799966,ECO:0000269|PubMed:16573520, ECO:0000269|PubMed:17183367,ECO:0000269|PubMed:17309234, ECO:0000269|PubMed:20048074,ECO:0000269|PubMed:20237237, ECO:0000269|PubMed:20458141,ECO:0000269|PubMed:20595380, ECO:0000269|PubMed:21483833,ECO:0000269|PubMed:21741370, ECO:0000269|PubMed:21778237,ECO:0000269|PubMed:23515529, ECO:0000269|PubMed:25355947}. |
![]() * 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_COMMD1 |
![]() (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_COMMD1 |
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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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RelatedDrugs for SMG1_COMMD1 |
![]() (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_COMMD1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | COMMD1 | C0019189 | Hepatitis, Chronic | 2 | CTD_human |
Tgene | COMMD1 | C0020517 | Hypersensitivity | 1 | CTD_human |
Tgene | COMMD1 | C0023890 | Liver Cirrhosis | 1 | CTD_human |
Tgene | COMMD1 | C0041755 | Adverse reaction to drug | 1 | CTD_human |
Tgene | COMMD1 | C1876165 | Copper-Overload Cirrhosis | 1 | CTD_human |