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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:KMT2D-RHEBL1 (FusionGDB2 ID:43040)

Fusion Gene Summary for KMT2D-RHEBL1

check button Fusion gene summary
Fusion gene informationFusion gene name: KMT2D-RHEBL1
Fusion gene ID: 43040
HgeneTgene
Gene symbol

KMT2D

RHEBL1

Gene ID

8085

121268

Gene namelysine methyltransferase 2DRHEB like 1
SynonymsAAD10|ALR|CAGL114|KABUK1|KMS|MLL2|MLL4|TNRC21RHEBL1c
Cytomap

12q13.12

12q13.12

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-GTPase RhebL1Ras homolog enriched in brain like 1 cras homolog enriched in brain like-1 cras homolog enriched in brain-like protein 1rheb-like protein 1rheb2
Modification date2020031620200313
UniProtAcc

O14686

.
Ensembl transtripts involved in fusion geneENST00000301067, ENST00000549743, 
ENST00000301068, 
Fusion gene scores* DoF score12 X 12 X 7=10083 X 3 X 3=27
# samples 133
** MAII scorelog2(13/1008*10)=-2.95491211047146
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: KMT2D [Title/Abstract] AND RHEBL1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointKMT2D(49439703)-RHEBL1(49460818), # samples:2
Anticipated loss of major functional domain due to fusion event.
* 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

HgeneKMT2D

GO:0044648

histone H3-K4 dimethylation

26320581

HgeneKMT2D

GO:0080182

histone H3-K4 trimethylation

26320581

HgeneKMT2D

GO:0097692

histone H3-K4 monomethylation

26320581

TgeneRHEBL1

GO:0051092

positive regulation of NF-kappaB transcription factor activity

16328882


check buttonFusion gene breakpoints across KMT2D (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across RHEBL1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4OVTCGA-09-1662-01AKMT2Dchr12

49439703

-RHEBL1chr12

49460818

-
ChimerDB4OVTCGA-09-1662-01AKMT2Dchr12

49439703

-RHEBL1chr12

49460818

-
ChimerDB4OVTCGA-09-1662-01AKMT2Dchr12

49439848

-RHEBL1chr12

49460818

-


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Fusion Gene ORF analysis for KMT2D-RHEBL1

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
In-frameENST00000301067ENST00000301068KMT2Dchr12

49439703

-RHEBL1chr12

49460818

-
intron-3CDSENST00000549743ENST00000301068KMT2Dchr12

49439703

-RHEBL1chr12

49460818

-
In-frameENST00000301067ENST00000301068KMT2Dchr12

49439848

-RHEBL1chr12

49460818

-
intron-3CDSENST00000549743ENST00000301068KMT2Dchr12

49439848

-RHEBL1chr12

49460818

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for KMT2D-RHEBL1


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for KMT2D-RHEBL1


check button Go to

FGviewer for the breakpoints of chr12:49439703-chr12:49460818

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

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

O14686

.
FUNCTION: Histone methyltransferase. Methylates 'Lys-4' of histone H3 (H3K4me). H3K4me represents a specific tag for epigenetic transcriptional activation. Acts as a coactivator for estrogen receptor by being recruited by ESR1, thereby activating transcription. {ECO:0000269|PubMed:16603732, ECO:0000269|PubMed:17500065, ECO:0000269|PubMed:17851529}.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-18541290_13281580.33333333333335538.0Compositional biasNote=Arg-rich
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-18541351_13551580.33333333333335538.0Compositional biasNote=Poly-Glu
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-18541397_15101580.33333333333335538.0Compositional biasNote=Cys-rich
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-1854229_3261580.33333333333335538.0Compositional biasNote=Cys-rich
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-1854374_11971580.33333333333335538.0Compositional biasNote=Pro-rich
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-17541290_13281564.33333333333335538.0Compositional biasNote=Arg-rich
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-17541351_13551564.33333333333335538.0Compositional biasNote=Poly-Glu
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-17541397_15101564.33333333333335538.0Compositional biasNote=Cys-rich
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-1754229_3261564.33333333333335538.0Compositional biasNote=Cys-rich
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-1754374_11971564.33333333333335538.0Compositional biasNote=Pro-rich
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-1854439_6681580.33333333333335538.0RegionNote=15 X 5 AA repeats of S/P-P-P-E/P-E/A
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-1754439_6681564.33333333333335538.0RegionNote=15 X 5 AA repeats of S/P-P-P-E/P-E/A
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-1854442_4461580.33333333333335538.0RepeatNote=1
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-1854460_4641580.33333333333335538.0RepeatNote=2
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-1854469_4731580.33333333333335538.0RepeatNote=3
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-1854496_5001580.33333333333335538.0RepeatNote=4
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-1854504_5081580.33333333333335538.0RepeatNote=5
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-1854521_5251580.33333333333335538.0RepeatNote=6
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-1854555_5591580.33333333333335538.0RepeatNote=7
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-1854564_5681580.33333333333335538.0RepeatNote=8
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-1854573_5771580.33333333333335538.0RepeatNote=9
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-1854582_5861580.33333333333335538.0RepeatNote=10
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-1854609_6131580.33333333333335538.0RepeatNote=11
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-1854618_6221580.33333333333335538.0RepeatNote=12
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-1854627_6311580.33333333333335538.0RepeatNote=13
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-1854645_6491580.33333333333335538.0RepeatNote=14
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-1854663_6671580.33333333333335538.0RepeatNote=15
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-1754442_4461564.33333333333335538.0RepeatNote=1
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-1754460_4641564.33333333333335538.0RepeatNote=2
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-1754469_4731564.33333333333335538.0RepeatNote=3
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-1754496_5001564.33333333333335538.0RepeatNote=4
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-1754504_5081564.33333333333335538.0RepeatNote=5
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-1754521_5251564.33333333333335538.0RepeatNote=6
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-1754555_5591564.33333333333335538.0RepeatNote=7
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-1754564_5681564.33333333333335538.0RepeatNote=8
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-1754573_5771564.33333333333335538.0RepeatNote=9
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-1754582_5861564.33333333333335538.0RepeatNote=10
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-1754609_6131564.33333333333335538.0RepeatNote=11
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-1754618_6221564.33333333333335538.0RepeatNote=12
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-1754627_6311564.33333333333335538.0RepeatNote=13
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-1754645_6491564.33333333333335538.0RepeatNote=14
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-1754663_6671564.33333333333335538.0RepeatNote=15
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-1854104_1491580.33333333333335538.0Zinc fingerC2HC pre-PHD-type 1%3B degenerate
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-18541377_14301580.33333333333335538.0Zinc fingerPHD-type 4
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-18541427_14771580.33333333333335538.0Zinc fingerPHD-type 5
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-18541504_15591580.33333333333335538.0Zinc fingerPHD-type 6
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-18541507_15571580.33333333333335538.0Zinc fingerRING-type 3%3B atypical
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-1854170_2181580.33333333333335538.0Zinc fingerPHD-type 1
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-1854226_2761580.33333333333335538.0Zinc fingerPHD-type 2
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-1854229_2741580.33333333333335538.0Zinc fingerRING-type 1%3B atypical
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-1854273_3231580.33333333333335538.0Zinc fingerPHD-type 3
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-1854276_3211580.33333333333335538.0Zinc fingerRING-type 2%3B degenerate
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-1754104_1491564.33333333333335538.0Zinc fingerC2HC pre-PHD-type 1%3B degenerate
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-17541377_14301564.33333333333335538.0Zinc fingerPHD-type 4
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-17541427_14771564.33333333333335538.0Zinc fingerPHD-type 5
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-17541504_15591564.33333333333335538.0Zinc fingerPHD-type 6
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-17541507_15571564.33333333333335538.0Zinc fingerRING-type 3%3B atypical
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-1754170_2181564.33333333333335538.0Zinc fingerPHD-type 1
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-1754226_2761564.33333333333335538.0Zinc fingerPHD-type 2
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-1754229_2741564.33333333333335538.0Zinc fingerRING-type 1%3B atypical
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-1754273_3231564.33333333333335538.0Zinc fingerPHD-type 3
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-1754276_3211564.33333333333335538.0Zinc fingerRING-type 2%3B degenerate
TgeneRHEBL1chr12:49439703chr12:49460818ENST0000030106818119_12241.333333333333336184.0Nucleotide bindingGTP
TgeneRHEBL1chr12:49439703chr12:49460818ENST0000030106818149_15041.333333333333336184.0Nucleotide bindingGTP
TgeneRHEBL1chr12:49439848chr12:49460818ENST0000030106818119_12241.333333333333336184.0Nucleotide bindingGTP
TgeneRHEBL1chr12:49439848chr12:49460818ENST0000030106818149_15041.333333333333336184.0Nucleotide bindingGTP

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-18542669_27071580.33333333333335538.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-18543249_32821580.33333333333335538.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-18543562_36141580.33333333333335538.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-18543714_37501580.33333333333335538.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-18543897_39751580.33333333333335538.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-17542669_27071564.33333333333335538.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-17543249_32821564.33333333333335538.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-17543562_36141564.33333333333335538.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-17543714_37501564.33333333333335538.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-17543897_39751564.33333333333335538.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-18542107_26261580.33333333333335538.0Compositional biasNote=Pro-rich
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-18542385_23921580.33333333333335538.0Compositional biasNote=Poly-Pro
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-18542707_27131580.33333333333335538.0Compositional biasNote=Poly-Ala
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-18542811_28221580.33333333333335538.0Compositional biasNote=Gln-rich
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-18542862_29781580.33333333333335538.0Compositional biasNote=Pro-rich
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-18543261_42751580.33333333333335538.0Compositional biasNote=Gln-rich
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-18544241_43601580.33333333333335538.0Compositional biasNote=Pro-rich
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-18544909_49771580.33333333333335538.0Compositional biasNote=Pro-rich
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-18545494_54971580.33333333333335538.0Compositional biasNote=Poly-Ile
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-17542107_26261564.33333333333335538.0Compositional biasNote=Pro-rich
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-17542385_23921564.33333333333335538.0Compositional biasNote=Poly-Pro
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-17542707_27131564.33333333333335538.0Compositional biasNote=Poly-Ala
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-17542811_28221564.33333333333335538.0Compositional biasNote=Gln-rich
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-17542862_29781564.33333333333335538.0Compositional biasNote=Pro-rich
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-17543261_42751564.33333333333335538.0Compositional biasNote=Gln-rich
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-17544241_43601564.33333333333335538.0Compositional biasNote=Pro-rich
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-17544909_49771564.33333333333335538.0Compositional biasNote=Pro-rich
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-17545494_54971564.33333333333335538.0Compositional biasNote=Poly-Ile
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-18545175_52351580.33333333333335538.0DomainFYR N-terminal
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-18545236_53211580.33333333333335538.0DomainFYR C-terminal
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-18545397_55131580.33333333333335538.0DomainSET
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-18545521_55371580.33333333333335538.0DomainPost-SET
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-17545175_52351564.33333333333335538.0DomainFYR N-terminal
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-17545236_53211564.33333333333335538.0DomainFYR C-terminal
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-17545397_55131564.33333333333335538.0DomainSET
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-17545521_55371564.33333333333335538.0DomainPost-SET
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-18542686_26901580.33333333333335538.0MotifNote=LXXLL motif 1
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-18543038_30421580.33333333333335538.0MotifNote=LXXLL motif 2
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-18544222_42361580.33333333333335538.0MotifNote=LXXLL motif 3
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-18544253_42571580.33333333333335538.0MotifNote=LXXLL motif 4
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-18544463_44671580.33333333333335538.0MotifNote=LXXLL motif 5
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-18544990_49941580.33333333333335538.0MotifNote=LXXLL motif 6
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-17542686_26901564.33333333333335538.0MotifNote=LXXLL motif 1
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-17543038_30421564.33333333333335538.0MotifNote=LXXLL motif 2
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-17544222_42361564.33333333333335538.0MotifNote=LXXLL motif 3
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-17544253_42571564.33333333333335538.0MotifNote=LXXLL motif 4
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-17544463_44671564.33333333333335538.0MotifNote=LXXLL motif 5
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-17544990_49941564.33333333333335538.0MotifNote=LXXLL motif 6
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-18545474_54751580.33333333333335538.0RegionS-adenosyl-L-methionine binding
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-17545474_54751564.33333333333335538.0RegionS-adenosyl-L-methionine binding
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-18545029_50691580.33333333333335538.0Zinc fingerC2HC pre-PHD-type 2
HgeneKMT2Dchr12:49439703chr12:49460818ENST00000301067-18545090_51371580.33333333333335538.0Zinc fingerPHD-type 7
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-17545029_50691564.33333333333335538.0Zinc fingerC2HC pre-PHD-type 2
HgeneKMT2Dchr12:49439848chr12:49460818ENST00000301067-17545090_51371564.33333333333335538.0Zinc fingerPHD-type 7
TgeneRHEBL1chr12:49439703chr12:49460818ENST000003010681835_4341.333333333333336184.0MotifNote=Effector region
TgeneRHEBL1chr12:49439848chr12:49460818ENST000003010681835_4341.333333333333336184.0MotifNote=Effector region
TgeneRHEBL1chr12:49439703chr12:49460818ENST000003010681816_2141.333333333333336184.0Nucleotide bindingGTP
TgeneRHEBL1chr12:49439703chr12:49460818ENST000003010681832_3841.333333333333336184.0Nucleotide bindingGTP
TgeneRHEBL1chr12:49439848chr12:49460818ENST000003010681816_2141.333333333333336184.0Nucleotide bindingGTP
TgeneRHEBL1chr12:49439848chr12:49460818ENST000003010681832_3841.333333333333336184.0Nucleotide bindingGTP


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Fusion Gene Sequence for KMT2D-RHEBL1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for KMT2D-RHEBL1


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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Related Drugs for KMT2D-RHEBL1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for KMT2D-RHEBL1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneKMT2DC0796004Kabuki make-up syndrome18CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneKMT2DC0005684Malignant neoplasm of urinary bladder1CTD_human
HgeneKMT2DC0005695Bladder Neoplasm1CTD_human
HgeneKMT2DC0006142Malignant neoplasm of breast1CTD_human
HgeneKMT2DC0010701Phyllodes Tumor1CTD_human
HgeneKMT2DC0021364Male infertility1CTD_human
HgeneKMT2DC0024301Lymphoma, Follicular1CTD_human
HgeneKMT2DC0026010Microphthalmos1GENOMICS_ENGLAND
HgeneKMT2DC0033578Prostatic Neoplasms1CTD_human
HgeneKMT2DC0036920Sezary Syndrome1CTD_human
HgeneKMT2DC0079744Diffuse Large B-Cell Lymphoma1CTD_human
HgeneKMT2DC0079745Lymphoma, Large-Cell, Follicular1CTD_human
HgeneKMT2DC0079758Lymphoma, Mixed-Cell, Follicular1CTD_human
HgeneKMT2DC0079765Lymphoma, Small Cleaved-Cell, Follicular1CTD_human
HgeneKMT2DC0079772T-Cell Lymphoma1CTD_human
HgeneKMT2DC0152423Congenital small ears1GENOMICS_ENGLAND
HgeneKMT2DC0279626Squamous cell carcinoma of esophagus1CTD_human
HgeneKMT2DC0376358Malignant neoplasm of prostate1CTD_human
HgeneKMT2DC0600066Malignant Cystosarcoma Phyllodes1CTD_human
HgeneKMT2DC0678222Breast Carcinoma1CTD_human
HgeneKMT2DC0848676Subfertility, Male1CTD_human
HgeneKMT2DC0917731Male sterility1CTD_human
HgeneKMT2DC1257931Mammary Neoplasms, Human1CTD_human
HgeneKMT2DC1458155Mammary Neoplasms1CTD_human
HgeneKMT2DC1708353Hereditary Paraganglioma-Pheochromocytoma Syndrome1CLINGEN
HgeneKMT2DC1956130Lymphoma, Follicular, Grade 11CTD_human
HgeneKMT2DC1956131Lymphoma, Follicular, Grade 31CTD_human
HgeneKMT2DC1956132Lymphoma, Follicular, Grade 21CTD_human
HgeneKMT2DC4704874Mammary Carcinoma, Human1CTD_human