FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 34895

FusionGeneSummary for SMG1_MYH11

check button Fusion gene summary
Fusion gene informationFusion gene name: SMG1_MYH11
Fusion gene ID: 34895
HgeneTgene
Gene symbol

SMG1

MYH11

Gene ID

23049

4629

Gene nameSMG1, nonsense mediated mRNA decay associated PI3K related kinasemyosin heavy chain 11
Synonyms61E3.4|ATX|LIPAAT4|FAA4|SMHC|SMMHC
Cytomap

16p12.3

16p13.11

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 kinasemyosin-11myosin heavy chain, smooth muscle isoformmyosin, heavy chain 11, smooth musclemyosin, heavy polypeptide 11, smooth muscle
Modification date2018052320180519
UniProtAcc

Q96Q15

P35749

Ensembl transtripts involved in fusion geneENST00000389467, ENST00000446231, 
ENST00000565224, ENST00000567737, 
ENST00000396324, ENST00000452625, 
ENST00000576790, ENST00000300036, 
ENST00000573908, 
Fusion gene scores* DoF score14 X 10 X 7=98011 X 15 X 6=990
# samples 1621
** MAII scorelog2(16/980*10)=-2.61470984411521
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(21/990*10)=-2.23703919730085
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SMG1 [Title/Abstract] AND MYH11 [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
TCGALDBRCATCGA-A2-A04Q-01ASMG1chr16

18844265

-MYH11chr16

15797983

-
TCGALDSTADTCGA-CD-8529-01ASMG1chr16

18888453

-MYH11chr16

15932126

-
* 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
Frame-shitENST00000389467ENST00000396324SMG1chr16

18844265

-MYH11chr16

15797983

-
5CDS-3UTRENST00000389467ENST00000452625SMG1chr16

18844265

-MYH11chr16

15797983

-
5CDS-3UTRENST00000389467ENST00000576790SMG1chr16

18844265

-MYH11chr16

15797983

-
5CDS-3UTRENST00000389467ENST00000300036SMG1chr16

18844265

-MYH11chr16

15797983

-
5CDS-5UTRENST00000389467ENST00000573908SMG1chr16

18844265

-MYH11chr16

15797983

-
Frame-shitENST00000446231ENST00000396324SMG1chr16

18844265

-MYH11chr16

15797983

-
5CDS-3UTRENST00000446231ENST00000452625SMG1chr16

18844265

-MYH11chr16

15797983

-
5CDS-3UTRENST00000446231ENST00000576790SMG1chr16

18844265

-MYH11chr16

15797983

-
5CDS-3UTRENST00000446231ENST00000300036SMG1chr16

18844265

-MYH11chr16

15797983

-
5CDS-5UTRENST00000446231ENST00000573908SMG1chr16

18844265

-MYH11chr16

15797983

-
intron-3CDSENST00000565224ENST00000396324SMG1chr16

18844265

-MYH11chr16

15797983

-
intron-3UTRENST00000565224ENST00000452625SMG1chr16

18844265

-MYH11chr16

15797983

-
intron-3UTRENST00000565224ENST00000576790SMG1chr16

18844265

-MYH11chr16

15797983

-
intron-3UTRENST00000565224ENST00000300036SMG1chr16

18844265

-MYH11chr16

15797983

-
intron-5UTRENST00000565224ENST00000573908SMG1chr16

18844265

-MYH11chr16

15797983

-
intron-3CDSENST00000567737ENST00000396324SMG1chr16

18844265

-MYH11chr16

15797983

-
intron-3UTRENST00000567737ENST00000452625SMG1chr16

18844265

-MYH11chr16

15797983

-
intron-3UTRENST00000567737ENST00000576790SMG1chr16

18844265

-MYH11chr16

15797983

-
intron-3UTRENST00000567737ENST00000300036SMG1chr16

18844265

-MYH11chr16

15797983

-
intron-5UTRENST00000567737ENST00000573908SMG1chr16

18844265

-MYH11chr16

15797983

-
5CDS-5UTRENST00000389467ENST00000396324SMG1chr16

18888453

-MYH11chr16

15932126

-
5CDS-5UTRENST00000389467ENST00000452625SMG1chr16

18888453

-MYH11chr16

15932126

-
5CDS-5UTRENST00000389467ENST00000576790SMG1chr16

18888453

-MYH11chr16

15932126

-
5CDS-5UTRENST00000389467ENST00000300036SMG1chr16

18888453

-MYH11chr16

15932126

-
5CDS-intronENST00000389467ENST00000573908SMG1chr16

18888453

-MYH11chr16

15932126

-
5CDS-5UTRENST00000446231ENST00000396324SMG1chr16

18888453

-MYH11chr16

15932126

-
5CDS-5UTRENST00000446231ENST00000452625SMG1chr16

18888453

-MYH11chr16

15932126

-
5CDS-5UTRENST00000446231ENST00000576790SMG1chr16

18888453

-MYH11chr16

15932126

-
5CDS-5UTRENST00000446231ENST00000300036SMG1chr16

18888453

-MYH11chr16

15932126

-
5CDS-intronENST00000446231ENST00000573908SMG1chr16

18888453

-MYH11chr16

15932126

-
5CDS-5UTRENST00000565224ENST00000396324SMG1chr16

18888453

-MYH11chr16

15932126

-
5CDS-5UTRENST00000565224ENST00000452625SMG1chr16

18888453

-MYH11chr16

15932126

-
5CDS-5UTRENST00000565224ENST00000576790SMG1chr16

18888453

-MYH11chr16

15932126

-
5CDS-5UTRENST00000565224ENST00000300036SMG1chr16

18888453

-MYH11chr16

15932126

-
5CDS-intronENST00000565224ENST00000573908SMG1chr16

18888453

-MYH11chr16

15932126

-
intron-5UTRENST00000567737ENST00000396324SMG1chr16

18888453

-MYH11chr16

15932126

-
intron-5UTRENST00000567737ENST00000452625SMG1chr16

18888453

-MYH11chr16

15932126

-
intron-5UTRENST00000567737ENST00000576790SMG1chr16

18888453

-MYH11chr16

15932126

-
intron-5UTRENST00000567737ENST00000300036SMG1chr16

18888453

-MYH11chr16

15932126

-
intron-intronENST00000567737ENST00000573908SMG1chr16

18888453

-MYH11chr16

15932126

-

Top

FusionProtFeatures for SMG1_MYH11


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

Q96Q15

MYH11

P35749

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}. Muscle contraction.

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


Top

FusionGeneSequence for SMG1_MYH11


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).

Top

FusionGenePPI for SMG1_MYH11


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, EPHA1MYH11SLX1B, GRB2, DAXX, APC, YWHAQ, SP1, FBXO25, MYOC, SHC1, ACTA2, ACTB, DSTN, MYO1E, EIF3A, RPA1, RPA2, RPA3, LGR4, FAM96A, OVCA2, RWDD2B, MYO5A, SFN, C4BPA, CAPZB, FLNA, MYL6, RAD51, SVIL, YWHAE, ARPC5, ACTR3, RALBP1, POC1A, ASTE1, MED4, LRRC59, CGN, INF2, ARPC5L, TBC1D31, UBXN2A, PLBD2, TMEM189, ZNF746, MPP1, GDF9, COQ2, COX15, DLST, DNM1L, PARK7, PDHA1, SOAT1, SOD1, VDAC1


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


Top

RelatedDrugs for SMG1_MYH11


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

Top

RelatedDiseases for SMG1_MYH11


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneMYH11C0023467Leukemia, Myelocytic, Acute2CTD_human
TgeneMYH11C0023479Acute myelomonocytic leukemia1CTD_human;ORPHANET
TgeneMYH11C1851504Aortic aneurysm, familial thoracic 41CTD_human;UNIPROT