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Fusion gene ID: 22151 |
FusionGeneSummary for MLLT10_SGMS1 |
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Fusion gene information | Fusion gene name: MLLT10_SGMS1 | Fusion gene ID: 22151 | Hgene | Tgene | Gene symbol | MLLT10 | SGMS1 | Gene ID | 8028 | 259230 |
Gene name | MLLT10, histone lysine methyltransferase DOT1L cofactor | sphingomyelin synthase 1 | |
Synonyms | AF10 | MOB|MOB1|SMS1|TMEM23|hmob33 | |
Cytomap | 10p12.31 | 10q11.23 | |
Type of gene | protein-coding | protein-coding | |
Description | protein AF-10ALL1-fused gene from chromosome 10 proteinmyeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10myeloid/lymphoid or mixed-lineage leukemia; translocated to, 10type I AF10 proteintype III AF10 prot | phosphatidylcholine:ceramide cholinephosphotransferase 1medulla oblongata-derived proteinprotein Mobtransmembrane protein 23 | |
Modification date | 20180522 | 20180523 | |
UniProtAcc | P55197 | Q86VZ5 | |
Ensembl transtripts involved in fusion gene | ENST00000446906, ENST00000377072, ENST00000307729, ENST00000377059, ENST00000495130, ENST00000377100, ENST00000377091, | ENST00000361781, ENST00000429490, ENST00000492601, ENST00000361543, | |
Fusion gene scores | * DoF score | 13 X 10 X 8=1040 | 6 X 4 X 5=120 |
# samples | 20 | 6 | |
** MAII score | log2(20/1040*10)=-2.37851162325373 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/120*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: MLLT10 [Title/Abstract] AND SGMS1 [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 | MLLT10 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 17868029 |
Tgene | SGMS1 | GO:0006686 | sphingomyelin biosynthetic process | 14685263|14976195 |
Tgene | SGMS1 | GO:0046513 | ceramide biosynthetic process | 25605874 |
![]() (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 | BF845226 | MLLT10 | chr10 | 22023141 | - | SGMS1 | chr10 | 52066624 | + |
* 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-3UTR | ENST00000446906 | ENST00000361781 | MLLT10 | chr10 | 22023141 | - | SGMS1 | chr10 | 52066624 | + |
intron-intron | ENST00000446906 | ENST00000429490 | MLLT10 | chr10 | 22023141 | - | SGMS1 | chr10 | 52066624 | + |
intron-intron | ENST00000446906 | ENST00000492601 | MLLT10 | chr10 | 22023141 | - | SGMS1 | chr10 | 52066624 | + |
intron-intron | ENST00000446906 | ENST00000361543 | MLLT10 | chr10 | 22023141 | - | SGMS1 | chr10 | 52066624 | + |
intron-3UTR | ENST00000377072 | ENST00000361781 | MLLT10 | chr10 | 22023141 | - | SGMS1 | chr10 | 52066624 | + |
intron-intron | ENST00000377072 | ENST00000429490 | MLLT10 | chr10 | 22023141 | - | SGMS1 | chr10 | 52066624 | + |
intron-intron | ENST00000377072 | ENST00000492601 | MLLT10 | chr10 | 22023141 | - | SGMS1 | chr10 | 52066624 | + |
intron-intron | ENST00000377072 | ENST00000361543 | MLLT10 | chr10 | 22023141 | - | SGMS1 | chr10 | 52066624 | + |
intron-3UTR | ENST00000307729 | ENST00000361781 | MLLT10 | chr10 | 22023141 | - | SGMS1 | chr10 | 52066624 | + |
intron-intron | ENST00000307729 | ENST00000429490 | MLLT10 | chr10 | 22023141 | - | SGMS1 | chr10 | 52066624 | + |
intron-intron | ENST00000307729 | ENST00000492601 | MLLT10 | chr10 | 22023141 | - | SGMS1 | chr10 | 52066624 | + |
intron-intron | ENST00000307729 | ENST00000361543 | MLLT10 | chr10 | 22023141 | - | SGMS1 | chr10 | 52066624 | + |
intron-3UTR | ENST00000377059 | ENST00000361781 | MLLT10 | chr10 | 22023141 | - | SGMS1 | chr10 | 52066624 | + |
intron-intron | ENST00000377059 | ENST00000429490 | MLLT10 | chr10 | 22023141 | - | SGMS1 | chr10 | 52066624 | + |
intron-intron | ENST00000377059 | ENST00000492601 | MLLT10 | chr10 | 22023141 | - | SGMS1 | chr10 | 52066624 | + |
intron-intron | ENST00000377059 | ENST00000361543 | MLLT10 | chr10 | 22023141 | - | SGMS1 | chr10 | 52066624 | + |
intron-3UTR | ENST00000495130 | ENST00000361781 | MLLT10 | chr10 | 22023141 | - | SGMS1 | chr10 | 52066624 | + |
intron-intron | ENST00000495130 | ENST00000429490 | MLLT10 | chr10 | 22023141 | - | SGMS1 | chr10 | 52066624 | + |
intron-intron | ENST00000495130 | ENST00000492601 | MLLT10 | chr10 | 22023141 | - | SGMS1 | chr10 | 52066624 | + |
intron-intron | ENST00000495130 | ENST00000361543 | MLLT10 | chr10 | 22023141 | - | SGMS1 | chr10 | 52066624 | + |
intron-3UTR | ENST00000377100 | ENST00000361781 | MLLT10 | chr10 | 22023141 | - | SGMS1 | chr10 | 52066624 | + |
intron-intron | ENST00000377100 | ENST00000429490 | MLLT10 | chr10 | 22023141 | - | SGMS1 | chr10 | 52066624 | + |
intron-intron | ENST00000377100 | ENST00000492601 | MLLT10 | chr10 | 22023141 | - | SGMS1 | chr10 | 52066624 | + |
intron-intron | ENST00000377100 | ENST00000361543 | MLLT10 | chr10 | 22023141 | - | SGMS1 | chr10 | 52066624 | + |
intron-3UTR | ENST00000377091 | ENST00000361781 | MLLT10 | chr10 | 22023141 | - | SGMS1 | chr10 | 52066624 | + |
intron-intron | ENST00000377091 | ENST00000429490 | MLLT10 | chr10 | 22023141 | - | SGMS1 | chr10 | 52066624 | + |
intron-intron | ENST00000377091 | ENST00000492601 | MLLT10 | chr10 | 22023141 | - | SGMS1 | chr10 | 52066624 | + |
intron-intron | ENST00000377091 | ENST00000361543 | MLLT10 | chr10 | 22023141 | - | SGMS1 | chr10 | 52066624 | + |
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FusionProtFeatures for MLLT10_SGMS1 |
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Hgene | Tgene |
MLLT10 | SGMS1 |
Probably involved in transcriptional regulation. Invitro or as fusion protein with KMT2A/MLL1 has transactivationactivity. Binds to cruciform DNA. In cells, binding to unmodifiedhistone H3 regulates DOT1L functions including histone H3 'Lys-79'dimethylation (H3K79me2) and gene activation (PubMed:26439302).{ECO:0000269|PubMed:17868029, ECO:0000269|PubMed:26439302}. | Sphingomyelin synthases synthesize the sphingolipid,sphingomyelin, through transfer of the phosphatidyl head group,phosphatidylcholine, on to the primary hydroxyl of ceramide. Thereaction is bidirectional depending on the respective levels ofthe sphingolipid and ceramide. Golgi apparatus SMS1 directly andspecifically recognizes the choline head group on the substrate,requiring two fatty chains on the choline-P donor molecule inorder to be recognized efficiently as a substrate. Major form inmacrophages. Required for cell growth in certain cell types suchas HeLa cells. Suppresses BAX-mediated apoptosis and also preventscell death in response to stimuli such as hydrogen peroxide,osmotic stress, elevated temperature and exogenously suppliedsphingolipids. May protect against cell death by reversing thestress-inducible increase in levels of proapoptotic ceramide.{ECO:0000269|PubMed:14685263, ECO:0000269|PubMed:17449912}. |
![]() * 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 MLLT10_SGMS1 |
![]() (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 MLLT10_SGMS1 |
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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 MLLT10_SGMS1 |
![]() (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 MLLT10_SGMS1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | MLLT10 | C0007134 | Renal Cell Carcinoma | 1 | CTD_human |
Hgene | MLLT10 | C0025202 | melanoma | 1 | CTD_human |
Hgene | MLLT10 | C0025286 | Meningioma | 1 | CTD_human |