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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: 22151

FusionGeneSummary for MLLT10_SGMS1

check button Fusion gene summary
Fusion gene informationFusion gene name: MLLT10_SGMS1
Fusion gene ID: 22151
HgeneTgene
Gene symbol

MLLT10

SGMS1

Gene ID

8028

259230

Gene nameMLLT10, histone lysine methyltransferase DOT1L cofactorsphingomyelin synthase 1
SynonymsAF10MOB|MOB1|SMS1|TMEM23|hmob33
Cytomap

10p12.31

10q11.23

Type of geneprotein-codingprotein-coding
Descriptionprotein 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 protphosphatidylcholine:ceramide cholinephosphotransferase 1medulla oblongata-derived proteinprotein Mobtransmembrane protein 23
Modification date2018052220180523
UniProtAcc

P55197

Q86VZ5

Ensembl transtripts involved in fusion geneENST00000446906, ENST00000377072, 
ENST00000307729, ENST00000377059, 
ENST00000495130, ENST00000377100, 
ENST00000377091, 		ENST00000361781, 
ENST00000429490, ENST00000492601, 
ENST00000361543, 
Fusion gene scores* DoF score13 X 10 X 8=10406 X 4 X 5=120
# samples 206
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneMLLT10

GO:0045944

positive regulation of transcription by RNA polymerase II

17868029

TgeneSGMS1

GO:0006686

sphingomyelin biosynthetic process

14685263|14976195

TgeneSGMS1

GO:0046513

ceramide biosynthetic process

25605874


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
ChiTaRS3.1BF845226MLLT10chr10

22023141

-SGMS1chr10

52066624

+
* 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
intron-3UTRENST00000446906ENST00000361781MLLT10chr10

22023141

-SGMS1chr10

52066624

+
intron-intronENST00000446906ENST00000429490MLLT10chr10

22023141

-SGMS1chr10

52066624

+
intron-intronENST00000446906ENST00000492601MLLT10chr10

22023141

-SGMS1chr10

52066624

+
intron-intronENST00000446906ENST00000361543MLLT10chr10

22023141

-SGMS1chr10

52066624

+
intron-3UTRENST00000377072ENST00000361781MLLT10chr10

22023141

-SGMS1chr10

52066624

+
intron-intronENST00000377072ENST00000429490MLLT10chr10

22023141

-SGMS1chr10

52066624

+
intron-intronENST00000377072ENST00000492601MLLT10chr10

22023141

-SGMS1chr10

52066624

+
intron-intronENST00000377072ENST00000361543MLLT10chr10

22023141

-SGMS1chr10

52066624

+
intron-3UTRENST00000307729ENST00000361781MLLT10chr10

22023141

-SGMS1chr10

52066624

+
intron-intronENST00000307729ENST00000429490MLLT10chr10

22023141

-SGMS1chr10

52066624

+
intron-intronENST00000307729ENST00000492601MLLT10chr10

22023141

-SGMS1chr10

52066624

+
intron-intronENST00000307729ENST00000361543MLLT10chr10

22023141

-SGMS1chr10

52066624

+
intron-3UTRENST00000377059ENST00000361781MLLT10chr10

22023141

-SGMS1chr10

52066624

+
intron-intronENST00000377059ENST00000429490MLLT10chr10

22023141

-SGMS1chr10

52066624

+
intron-intronENST00000377059ENST00000492601MLLT10chr10

22023141

-SGMS1chr10

52066624

+
intron-intronENST00000377059ENST00000361543MLLT10chr10

22023141

-SGMS1chr10

52066624

+
intron-3UTRENST00000495130ENST00000361781MLLT10chr10

22023141

-SGMS1chr10

52066624

+
intron-intronENST00000495130ENST00000429490MLLT10chr10

22023141

-SGMS1chr10

52066624

+
intron-intronENST00000495130ENST00000492601MLLT10chr10

22023141

-SGMS1chr10

52066624

+
intron-intronENST00000495130ENST00000361543MLLT10chr10

22023141

-SGMS1chr10

52066624

+
intron-3UTRENST00000377100ENST00000361781MLLT10chr10

22023141

-SGMS1chr10

52066624

+
intron-intronENST00000377100ENST00000429490MLLT10chr10

22023141

-SGMS1chr10

52066624

+
intron-intronENST00000377100ENST00000492601MLLT10chr10

22023141

-SGMS1chr10

52066624

+
intron-intronENST00000377100ENST00000361543MLLT10chr10

22023141

-SGMS1chr10

52066624

+
intron-3UTRENST00000377091ENST00000361781MLLT10chr10

22023141

-SGMS1chr10

52066624

+
intron-intronENST00000377091ENST00000429490MLLT10chr10

22023141

-SGMS1chr10

52066624

+
intron-intronENST00000377091ENST00000492601MLLT10chr10

22023141

-SGMS1chr10

52066624

+
intron-intronENST00000377091ENST00000361543MLLT10chr10

22023141

-SGMS1chr10

52066624

+

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FusionProtFeatures for MLLT10_SGMS1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MLLT10

P55197

SGMS1

Q86VZ5

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}.

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 MLLT10_SGMS1


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 MLLT10_SGMS1


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


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 MLLT10_SGMS1


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 MLLT10_SGMS1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMLLT10C0007134Renal Cell Carcinoma1CTD_human
HgeneMLLT10C0025202melanoma1CTD_human
HgeneMLLT10C0025286Meningioma1CTD_human