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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: 19139

FusionGeneSummary for KMT2D_MLLT10

check button Fusion gene summary
Fusion gene informationFusion gene name: KMT2D_MLLT10
Fusion gene ID: 19139
HgeneTgene
Gene symbol

KMT2D

MLLT10

Gene ID

8085

8028

Gene namelysine methyltransferase 2DMLLT10, histone lysine methyltransferase DOT1L cofactor
SynonymsAAD10|ALR|CAGL114|KABUK1|KMS|MLL2|MLL4|TNRC21AF10
Cytomap

12q13.12

10p12.31

Type of geneprotein-codingprotein-coding
Descriptionhistone-lysine N-methyltransferase 2DALL1-related proteinKabuki make-up syndromeKabuki mental retardation syndromehistone-lysine N-methyltransferase MLL2lysine (K)-specific methyltransferase 2Dlysine N-methyltransferase 2Dmyeloid/lymphoid or mixed-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
Modification date2018052320180522
UniProtAcc

O14686

P55197

Ensembl transtripts involved in fusion geneENST00000301067, ENST00000549743, 
ENST00000446906, ENST00000377072, 
ENST00000307729, ENST00000377059, 
ENST00000495130, ENST00000377100, 
ENST00000377091, 
Fusion gene scores* DoF score9 X 9 X 5=4055 X 15 X 3=225
# samples 1120
** MAII scorelog2(11/405*10)=-1.88041838424733
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(20/225*10)=-0.169925001442312
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KMT2D [Title/Abstract] AND MLLT10 [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
HgeneKMT2D

GO:0043627

response to estrogen

16603732

TgeneMLLT10

GO:0045944

positive regulation of transcription by RNA polymerase II

17868029


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
ChiTaRS3.1AW379456KMT2Dchr12

49443557

+MLLT10chr10

21940694

+
* 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-intronENST00000301067ENST00000446906KMT2Dchr12

49443557

+MLLT10chr10

21940694

+
intron-intronENST00000301067ENST00000377072KMT2Dchr12

49443557

+MLLT10chr10

21940694

+
intron-intronENST00000301067ENST00000307729KMT2Dchr12

49443557

+MLLT10chr10

21940694

+
intron-intronENST00000301067ENST00000377059KMT2Dchr12

49443557

+MLLT10chr10

21940694

+
intron-intronENST00000301067ENST00000495130KMT2Dchr12

49443557

+MLLT10chr10

21940694

+
intron-intronENST00000301067ENST00000377100KMT2Dchr12

49443557

+MLLT10chr10

21940694

+
intron-intronENST00000301067ENST00000377091KMT2Dchr12

49443557

+MLLT10chr10

21940694

+
intron-intronENST00000549743ENST00000446906KMT2Dchr12

49443557

+MLLT10chr10

21940694

+
intron-intronENST00000549743ENST00000377072KMT2Dchr12

49443557

+MLLT10chr10

21940694

+
intron-intronENST00000549743ENST00000307729KMT2Dchr12

49443557

+MLLT10chr10

21940694

+
intron-intronENST00000549743ENST00000377059KMT2Dchr12

49443557

+MLLT10chr10

21940694

+
intron-intronENST00000549743ENST00000495130KMT2Dchr12

49443557

+MLLT10chr10

21940694

+
intron-intronENST00000549743ENST00000377100KMT2Dchr12

49443557

+MLLT10chr10

21940694

+
intron-intronENST00000549743ENST00000377091KMT2Dchr12

49443557

+MLLT10chr10

21940694

+

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FusionProtFeatures for KMT2D_MLLT10


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KMT2D

O14686

MLLT10

P55197

Histone methyltransferase. Methylates 'Lys-4' of histoneH3 (H3K4me). H3K4me represents a specific tag for epigenetictranscriptional activation. Acts as a coactivator for estrogenreceptor by being recruited by ESR1, thereby activatingtranscription. {ECO:0000269|PubMed:16603732,ECO:0000269|PubMed:17500065, ECO:0000269|PubMed:17851529}. 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}.

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 KMT2D_MLLT10


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 KMT2D_MLLT10


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 KMT2D_MLLT10


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 KMT2D_MLLT10


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneKMT2DC0796004Kabuki make-up syndrome5CTD_human;ORPHANET;UNIPROT
HgeneKMT2DC0005695Bladder Neoplasm1CTD_human
HgeneKMT2DC0010701Phyllodes Tumor1CTD_human
HgeneKMT2DC0021364Male infertility1CTD_human
HgeneKMT2DC0024301Lymphoma, Follicular1CTD_human
HgeneKMT2DC0036920Sezary Syndrome1CTD_human
HgeneKMT2DC0079744Diffuse Large B-Cell Lymphoma1CTD_human
HgeneKMT2DC0079772T-Cell Lymphoma1CTD_human
HgeneKMT2DC0279626Squamous cell carcinoma of esophagus1CTD_human
HgeneKMT2DC1458155Mammary Neoplasms1CTD_human
TgeneMLLT10C0007134Renal Cell Carcinoma1CTD_human
TgeneMLLT10C0025202melanoma1CTD_human
TgeneMLLT10C0025286Meningioma1CTD_human