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Fusion gene ID: 22980 |
FusionGeneSummary for MYH11_YME1L1 |
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Fusion gene information | Fusion gene name: MYH11_YME1L1 | Fusion gene ID: 22980 | Hgene | Tgene | Gene symbol | MYH11 | YME1L1 | Gene ID | 4629 | 10730 |
Gene name | myosin heavy chain 11 | YME1 like 1 ATPase | |
Synonyms | AAT4|FAA4|SMHC|SMMHC | FTSH|MEG4|OPA11|PAMP|YME1L | |
Cytomap | 16p13.11 | 10p12.1 | |
Type of gene | protein-coding | protein-coding | |
Description | myosin-11myosin heavy chain, smooth muscle isoformmyosin, heavy chain 11, smooth musclemyosin, heavy polypeptide 11, smooth muscle | ATP-dependent zinc metalloprotease YME1L1ATP-dependent metalloprotease FtsH1 homologYME1-like protein 1meg-4presenilin-associated metalloprotease | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | P35749 | Q96TA2 | |
Ensembl transtripts involved in fusion gene | ENST00000396324, ENST00000452625, ENST00000576790, ENST00000300036, ENST00000573908, | ENST00000326799, ENST00000376016, ENST00000375972, ENST00000463270, ENST00000477432, | |
Fusion gene scores | * DoF score | 7 X 6 X 4=168 | 6 X 6 X 3=108 |
# samples | 7 | 7 | |
** MAII score | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | YME1L1 | GO:0034214 | protein hexamerization | 27786171 |
![]() (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 | CESC | TCGA-EK-A2PM-01A | MYH11 | chr16 | 15820705 | - | YME1L1 | chr10 | 27437969 | - |
* 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 |
Frame-shift | ENST00000396324 | ENST00000326799 | MYH11 | chr16 | 15820705 | - | YME1L1 | chr10 | 27437969 | - |
Frame-shift | ENST00000396324 | ENST00000376016 | MYH11 | chr16 | 15820705 | - | YME1L1 | chr10 | 27437969 | - |
Frame-shift | ENST00000396324 | ENST00000375972 | MYH11 | chr16 | 15820705 | - | YME1L1 | chr10 | 27437969 | - |
5CDS-intron | ENST00000396324 | ENST00000463270 | MYH11 | chr16 | 15820705 | - | YME1L1 | chr10 | 27437969 | - |
5CDS-intron | ENST00000396324 | ENST00000477432 | MYH11 | chr16 | 15820705 | - | YME1L1 | chr10 | 27437969 | - |
Frame-shift | ENST00000452625 | ENST00000326799 | MYH11 | chr16 | 15820705 | - | YME1L1 | chr10 | 27437969 | - |
Frame-shift | ENST00000452625 | ENST00000376016 | MYH11 | chr16 | 15820705 | - | YME1L1 | chr10 | 27437969 | - |
Frame-shift | ENST00000452625 | ENST00000375972 | MYH11 | chr16 | 15820705 | - | YME1L1 | chr10 | 27437969 | - |
5CDS-intron | ENST00000452625 | ENST00000463270 | MYH11 | chr16 | 15820705 | - | YME1L1 | chr10 | 27437969 | - |
5CDS-intron | ENST00000452625 | ENST00000477432 | MYH11 | chr16 | 15820705 | - | YME1L1 | chr10 | 27437969 | - |
Frame-shift | ENST00000576790 | ENST00000326799 | MYH11 | chr16 | 15820705 | - | YME1L1 | chr10 | 27437969 | - |
Frame-shift | ENST00000576790 | ENST00000376016 | MYH11 | chr16 | 15820705 | - | YME1L1 | chr10 | 27437969 | - |
Frame-shift | ENST00000576790 | ENST00000375972 | MYH11 | chr16 | 15820705 | - | YME1L1 | chr10 | 27437969 | - |
5CDS-intron | ENST00000576790 | ENST00000463270 | MYH11 | chr16 | 15820705 | - | YME1L1 | chr10 | 27437969 | - |
5CDS-intron | ENST00000576790 | ENST00000477432 | MYH11 | chr16 | 15820705 | - | YME1L1 | chr10 | 27437969 | - |
Frame-shift | ENST00000300036 | ENST00000326799 | MYH11 | chr16 | 15820705 | - | YME1L1 | chr10 | 27437969 | - |
Frame-shift | ENST00000300036 | ENST00000376016 | MYH11 | chr16 | 15820705 | - | YME1L1 | chr10 | 27437969 | - |
Frame-shift | ENST00000300036 | ENST00000375972 | MYH11 | chr16 | 15820705 | - | YME1L1 | chr10 | 27437969 | - |
5CDS-intron | ENST00000300036 | ENST00000463270 | MYH11 | chr16 | 15820705 | - | YME1L1 | chr10 | 27437969 | - |
5CDS-intron | ENST00000300036 | ENST00000477432 | MYH11 | chr16 | 15820705 | - | YME1L1 | chr10 | 27437969 | - |
intron-3CDS | ENST00000573908 | ENST00000326799 | MYH11 | chr16 | 15820705 | - | YME1L1 | chr10 | 27437969 | - |
intron-3CDS | ENST00000573908 | ENST00000376016 | MYH11 | chr16 | 15820705 | - | YME1L1 | chr10 | 27437969 | - |
intron-3CDS | ENST00000573908 | ENST00000375972 | MYH11 | chr16 | 15820705 | - | YME1L1 | chr10 | 27437969 | - |
intron-intron | ENST00000573908 | ENST00000463270 | MYH11 | chr16 | 15820705 | - | YME1L1 | chr10 | 27437969 | - |
intron-intron | ENST00000573908 | ENST00000477432 | MYH11 | chr16 | 15820705 | - | YME1L1 | chr10 | 27437969 | - |
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FusionProtFeatures for MYH11_YME1L1 |
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Hgene | Tgene |
MYH11 | YME1L1 |
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}. |
![]() * 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 MYH11_YME1L1 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
MYH11 | SLX1B, 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 | YME1L1 | PSEN1, 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 |
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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 MYH11_YME1L1 |
![]() (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 MYH11_YME1L1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | MYH11 | C0023467 | Leukemia, Myelocytic, Acute | 2 | CTD_human |
Hgene | MYH11 | C0023479 | Acute myelomonocytic leukemia | 1 | CTD_human;ORPHANET |
Hgene | MYH11 | C1851504 | Aortic aneurysm, familial thoracic 4 | 1 | CTD_human;UNIPROT |