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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: 22980

FusionGeneSummary for MYH11_YME1L1

check button Fusion gene summary
Fusion gene informationFusion gene name: MYH11_YME1L1
Fusion gene ID: 22980
HgeneTgene
Gene symbol

MYH11

YME1L1

Gene ID

4629

10730

Gene namemyosin heavy chain 11YME1 like 1 ATPase
SynonymsAAT4|FAA4|SMHC|SMMHCFTSH|MEG4|OPA11|PAMP|YME1L
Cytomap

16p13.11

10p12.1

Type of geneprotein-codingprotein-coding
Descriptionmyosin-11myosin heavy chain, smooth muscle isoformmyosin, heavy chain 11, smooth musclemyosin, heavy polypeptide 11, smooth muscleATP-dependent zinc metalloprotease YME1L1ATP-dependent metalloprotease FtsH1 homologYME1-like protein 1meg-4presenilin-associated metalloprotease
Modification date2018051920180523
UniProtAcc

P35749

Q96TA2

Ensembl transtripts involved in fusion geneENST00000396324, ENST00000452625, 
ENST00000576790, ENST00000300036, 
ENST00000573908, 
ENST00000326799, 
ENST00000376016, ENST00000375972, 
ENST00000463270, ENST00000477432, 
Fusion gene scores* DoF score7 X 6 X 4=1686 X 6 X 3=108
# samples 77
** MAII scorelog2(7/168*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/108*10)=-0.625604485218502
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MYH11 [Title/Abstract] AND YME1L1 [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
TgeneYME1L1

GO:0034214

protein hexamerization

27786171


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
TCGALDCESCTCGA-EK-A2PM-01AMYH11chr16

15820705

-YME1L1chr10

27437969

-
* 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-shitENST00000396324ENST00000326799MYH11chr16

15820705

-YME1L1chr10

27437969

-
Frame-shitENST00000396324ENST00000376016MYH11chr16

15820705

-YME1L1chr10

27437969

-
Frame-shitENST00000396324ENST00000375972MYH11chr16

15820705

-YME1L1chr10

27437969

-
5CDS-intronENST00000396324ENST00000463270MYH11chr16

15820705

-YME1L1chr10

27437969

-
5CDS-intronENST00000396324ENST00000477432MYH11chr16

15820705

-YME1L1chr10

27437969

-
Frame-shitENST00000452625ENST00000326799MYH11chr16

15820705

-YME1L1chr10

27437969

-
Frame-shitENST00000452625ENST00000376016MYH11chr16

15820705

-YME1L1chr10

27437969

-
Frame-shitENST00000452625ENST00000375972MYH11chr16

15820705

-YME1L1chr10

27437969

-
5CDS-intronENST00000452625ENST00000463270MYH11chr16

15820705

-YME1L1chr10

27437969

-
5CDS-intronENST00000452625ENST00000477432MYH11chr16

15820705

-YME1L1chr10

27437969

-
Frame-shitENST00000576790ENST00000326799MYH11chr16

15820705

-YME1L1chr10

27437969

-
Frame-shitENST00000576790ENST00000376016MYH11chr16

15820705

-YME1L1chr10

27437969

-
Frame-shitENST00000576790ENST00000375972MYH11chr16

15820705

-YME1L1chr10

27437969

-
5CDS-intronENST00000576790ENST00000463270MYH11chr16

15820705

-YME1L1chr10

27437969

-
5CDS-intronENST00000576790ENST00000477432MYH11chr16

15820705

-YME1L1chr10

27437969

-
Frame-shitENST00000300036ENST00000326799MYH11chr16

15820705

-YME1L1chr10

27437969

-
Frame-shitENST00000300036ENST00000376016MYH11chr16

15820705

-YME1L1chr10

27437969

-
Frame-shitENST00000300036ENST00000375972MYH11chr16

15820705

-YME1L1chr10

27437969

-
5CDS-intronENST00000300036ENST00000463270MYH11chr16

15820705

-YME1L1chr10

27437969

-
5CDS-intronENST00000300036ENST00000477432MYH11chr16

15820705

-YME1L1chr10

27437969

-
intron-3CDSENST00000573908ENST00000326799MYH11chr16

15820705

-YME1L1chr10

27437969

-
intron-3CDSENST00000573908ENST00000376016MYH11chr16

15820705

-YME1L1chr10

27437969

-
intron-3CDSENST00000573908ENST00000375972MYH11chr16

15820705

-YME1L1chr10

27437969

-
intron-intronENST00000573908ENST00000463270MYH11chr16

15820705

-YME1L1chr10

27437969

-
intron-intronENST00000573908ENST00000477432MYH11chr16

15820705

-YME1L1chr10

27437969

-

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FusionProtFeatures for MYH11_YME1L1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MYH11

P35749

YME1L1

Q96TA2

Muscle contraction. ATP-dependent metalloprotease that catalyzes thedegradation of folded and unfolded proteins with a suitable degronsequence in the mitochondrial intermembrane region(PubMed:26923599, PubMed:27786171). Plays an important role inregulating mitochondrial morphology and function by cleaving OPA1at position S2, giving rise to a form of OPA1 that promotesmaintenance of normal mitochondrial structure and mitochondrialprotein metabolism (PubMed:18076378, PubMed:26923599,PubMed:27495975). Ensures cell proliferation, maintains normalcristae morphology and complex I respiration activity, promotesantiapoptotic activity and protects mitochondria from theaccumulation of oxidatively damaged membrane proteins(PubMed:22262461). Required for normal, constitutive degradationof PRELID1 (PubMed:27495975). Catalyzes the degradation of OMA1 inresponse to membrane depolarization (PubMed:26923599). Required tocontrol the accumulation of nonassembled respiratory chainsubunits (NDUFB6, OX4 and ND1) (PubMed:22262461).{ECO:0000269|PubMed:18076378, ECO:0000269|PubMed:22262461,ECO:0000269|PubMed:26923599, ECO:0000269|PubMed:27495975,ECO:0000269|PubMed:27786171}.

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 MYH11_YME1L1


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 MYH11_YME1L1


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
MYH11SLX1B, 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, VDAC1YME1L1PSEN1, ICT1, FKBP8, DAP3, VDAC3, SSBP1, COX2, NDUFB6, ND5, ND2, ND6, MYOG, BCL11A, DYRK4, HIPK4, PHKG2, UNK, ATP5A1, ATP5F1, CAD, NTRK1, PTEN, NDUFA11, NDUFA13, TIMMDC1, TBC1D9, AP4E1, TMEM63B, GEMIN7, ENTHD2, CHCHD10, APOOL, OPA3, OCIAD1, PDP2, TTC25, INTU


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 MYH11_YME1L1


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 MYH11_YME1L1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMYH11C0023467Leukemia, Myelocytic, Acute2CTD_human
HgeneMYH11C0023479Acute myelomonocytic leukemia1CTD_human;ORPHANET
HgeneMYH11C1851504Aortic aneurysm, familial thoracic 41CTD_human;UNIPROT