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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 34889

FusionGeneSummary for SMG1_DOC2A

check button Fusion gene summary
Fusion gene informationFusion gene name: SMG1_DOC2A
Fusion gene ID: 34889
HgeneTgene
Gene symbol

SMG1

DOC2A

Gene ID

23049

8448

Gene nameSMG1, nonsense mediated mRNA decay associated PI3K related kinasedouble C2 domain alpha
Synonyms61E3.4|ATX|LIPDoc2
Cytomap

16p12.3

16p11.2

Type of geneprotein-codingprotein-coding
Descriptionserine/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 kinasedouble C2-like domain-containing protein alphadoc2-alphadouble C2-like domains, alpha
Modification date2018052320180519
UniProtAcc

Q96Q15

Q14183

Ensembl transtripts involved in fusion geneENST00000389467, ENST00000446231, 
ENST00000565224, ENST00000567737, 
ENST00000350119, ENST00000564944, 
ENST00000564979, ENST00000567824, 
Fusion gene scores* DoF score14 X 10 X 7=9801 X 1 X 1=1
# samples 161
** MAII scorelog2(16/980*10)=-2.61470984411521
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: SMG1 [Title/Abstract] AND DOC2A [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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneSMG1

GO:0000184

nuclear-transcribed mRNA catabolic process, nonsense-mediated decay

11544179

HgeneSMG1

GO:0018105

peptidyl-serine phosphorylation

11544179|15175154

HgeneSMG1

GO:0046777

protein autophosphorylation

11331269|11544179

HgeneSMG1

GO:0046854

phosphatidylinositol phosphorylation

11331269

HgeneSMG1

GO:2001020

regulation of response to DNA damage stimulus

15175154


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDBLCATCGA-UY-A78M-01ASMG1chr16

18907374

-DOC2Achr16

30026583

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-intronENST00000389467ENST00000350119SMG1chr16

18907374

-DOC2Achr16

30026583

-
5CDS-intronENST00000389467ENST00000564944SMG1chr16

18907374

-DOC2Achr16

30026583

-
5CDS-intronENST00000389467ENST00000564979SMG1chr16

18907374

-DOC2Achr16

30026583

-
5CDS-intronENST00000389467ENST00000567824SMG1chr16

18907374

-DOC2Achr16

30026583

-
5CDS-intronENST00000446231ENST00000350119SMG1chr16

18907374

-DOC2Achr16

30026583

-
5CDS-intronENST00000446231ENST00000564944SMG1chr16

18907374

-DOC2Achr16

30026583

-
5CDS-intronENST00000446231ENST00000564979SMG1chr16

18907374

-DOC2Achr16

30026583

-
5CDS-intronENST00000446231ENST00000567824SMG1chr16

18907374

-DOC2Achr16

30026583

-
5CDS-intronENST00000565224ENST00000350119SMG1chr16

18907374

-DOC2Achr16

30026583

-
5CDS-intronENST00000565224ENST00000564944SMG1chr16

18907374

-DOC2Achr16

30026583

-
5CDS-intronENST00000565224ENST00000564979SMG1chr16

18907374

-DOC2Achr16

30026583

-
5CDS-intronENST00000565224ENST00000567824SMG1chr16

18907374

-DOC2Achr16

30026583

-
intron-intronENST00000567737ENST00000350119SMG1chr16

18907374

-DOC2Achr16

30026583

-
intron-intronENST00000567737ENST00000564944SMG1chr16

18907374

-DOC2Achr16

30026583

-
intron-intronENST00000567737ENST00000564979SMG1chr16

18907374

-DOC2Achr16

30026583

-
intron-intronENST00000567737ENST00000567824SMG1chr16

18907374

-DOC2Achr16

30026583

-

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FusionProtFeatures for SMG1_DOC2A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SMG1

Q96Q15

DOC2A

Q14183

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}. Calcium sensor which most probably regulates fusion ofvesicles with membranes. Binds calcium and phospholipids. May beinvolved in calcium dependent neurotransmitter release through theinteraction with UNC13A. May be involved in calcium-dependentspontaneous release of neurotransmitter in absence of actionpotentials in neuronal cells. Regulates Ca(2+)-dependent secretorylysosome exocytosis in mast cells. {ECO:0000269|PubMed:18354201,ECO:0000269|PubMed:9736751, ECO:0000269|PubMed:9804756}.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for SMG1_DOC2A


check button 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 SMG1_DOC2A


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
SMG1PRKCI, 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, EPHA1DOC2AUNC13B, RAP1GDS1, UBASH3B, SCGN, GPR137B, TTC21B, DOC2B, KCTD21, SETMAR


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for SMG1_DOC2A


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for SMG1_DOC2A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource