UTHEALTH HOME    ABOUT SBMI    A-Z    WEBMAIL    INSIDE THE UNIVERSITY
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Terms of Use
Center for Computational Systems Medicine level1
leaf

Fusion Gene Summary

leaf

Fusion Gene Sample Information

leaf

Fusion ORF Analysis

leaf

Fusion Amino Acid Sequences

leaf

Fusion Protein Functional Features

leaf

Fusion Protein-Protein Interaction

leaf

Related drugs with this fusion protein

leaf

Related disease with this fusion protein

Fusion Protein:KMT2C-DPP6

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: KMT2C-DPP6
FusionPDB ID: 43243
FusionGDB2.0 ID: 43243
HgeneTgene
Gene symbol

KMT2C

DPP6

Gene ID

58508

1804

Gene namelysine methyltransferase 2Cdipeptidyl peptidase like 6
SynonymsHALR|KLEFS2|MLL3DPL1|DPPX|MRD33|VF2
Cytomap

7q36.1

7q36.2

Type of geneprotein-codingprotein-coding
Descriptionhistone-lysine N-methyltransferase 2CALR-like proteinhistone-lysine N-methyltransferase MLL3histone-lysine N-methyltransferase, H3 lysine-4 specifichomologous to ALR proteinlysine (K)-specific methyltransferase 2Cmyeloid/lymphoid or mixed-lineage ledipeptidyl aminopeptidase-like protein 6DPP VIdipeptidyl aminopeptidase IV-related proteindipeptidyl peptidase IV-related proteindipeptidyl peptidase VIdipeptidyl-peptidase 6
Modification date2020032020200313
UniProtAcc

Q8NEZ4

P42658

Ensembl transtripts involved in fusion geneENST idsENST00000262189, ENST00000355193, 
ENST00000485241, ENST00000485655, 
ENST00000332007, ENST00000377770, 
ENST00000406326, ENST00000427557, 
ENST00000496611, ENST00000404039, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score26 X 23 X 12=717617 X 17 X 7=2023
# samples 3219
** MAII scorelog2(32/7176*10)=-4.4870360800319
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(19/2023*10)=-3.41242499622733
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: KMT2C [Title/Abstract] AND DPP6 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)KMT2C(151962123)-DPP6(154667616), # samples:1
Anticipated loss of major functional domain due to fusion event.KMT2C-DPP6 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
KMT2C-DPP6 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
KMT2C-DPP6 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
KMT2C-DPP6 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* 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
HgeneKMT2C

GO:0097692

histone H3-K4 monomethylation

26324722

TgeneDPP6

GO:1901379

regulation of potassium ion transmembrane transport

18364354


check buttonFusion gene breakpoints across KMT2C (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across DPP6 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


Top

Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerDB4SKCMTCGA-FW-A3I3-06AKMT2Cchr7

151962123

-DPP6chr7

154667616

+


Top

Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000262189KMT2Cchr7151962123-ENST00000404039DPP6chr7154667616+392314032072117636
ENST00000355193KMT2Cchr7151962123-ENST00000404039DPP6chr7154667616+392314032072117636

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
ENST00000262189ENST00000404039KMT2Cchr7151962123-DPP6chr7154667616+0.0011555220.9988445
ENST00000355193ENST00000404039KMT2Cchr7151962123-DPP6chr7154667616+0.0011555220.9988445

Top

Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>43243_43243_1_KMT2C-DPP6_KMT2C_chr7_151962123_ENST00000262189_DPP6_chr7_154667616_ENST00000404039_length(amino acids)=636AA_BP=399
MVTRMSSEEDKSVEQPQPPPPPPEEPGAPAPSPAAADKRPRGRPRKDGASPFQRARKKPRSRGKTAVEDEDSMDGLETTETETIVETEIK
EQSAEEDAEAEVDNSKQLIPTLQRSVSEESANSLVSVGVEAKISEQLCAFCYCGEKSSLGQGDLKQFRITPGFILPWRNQPSNKKDIDDN
SNGTYEKMQNSAPRKQRGQRKERSPQQNIVSCVSVSTQTASDDQAGKLWDELSLVGLPDAIDIQALFDSTGTCWAHHRCVEWSLGVCQME
EPLLVNVDKAVVSGSTERCAFCKHLGATIKCCEEKCTQMYHYPCAAGAGTFQDFSHIFLLCPEHIDQAPERSKEDANCAVCDSPGDLLDQ
FFCTTCGQHYHGMCLDIAVTPLKRAGWQCPECKVCQNCKDGTPGSQSVAEKFEVSWETVMVSSHGAVVVKCDGRGSGFQGTKLLHEVRRR
LGLLEEKDQMEAVRTMLKEQYIDRTRVAVFGKDYGGYLSTYILPAKGENQGQTFTCGSALSPITDFKLYASAFSERYLGLHGLDNRAYEM
TKVAHRVSALEEQQFLIIHPTADEKIHFQHTAELITQLIRGKANYSLQIYPDESHYFTSSSLKQHLYRSIINFFVECFRIQDKLLTVTAK

--------------------------------------------------------------

>43243_43243_2_KMT2C-DPP6_KMT2C_chr7_151962123_ENST00000355193_DPP6_chr7_154667616_ENST00000404039_length(amino acids)=636AA_BP=399
MVTRMSSEEDKSVEQPQPPPPPPEEPGAPAPSPAAADKRPRGRPRKDGASPFQRARKKPRSRGKTAVEDEDSMDGLETTETETIVETEIK
EQSAEEDAEAEVDNSKQLIPTLQRSVSEESANSLVSVGVEAKISEQLCAFCYCGEKSSLGQGDLKQFRITPGFILPWRNQPSNKKDIDDN
SNGTYEKMQNSAPRKQRGQRKERSPQQNIVSCVSVSTQTASDDQAGKLWDELSLVGLPDAIDIQALFDSTGTCWAHHRCVEWSLGVCQME
EPLLVNVDKAVVSGSTERCAFCKHLGATIKCCEEKCTQMYHYPCAAGAGTFQDFSHIFLLCPEHIDQAPERSKEDANCAVCDSPGDLLDQ
FFCTTCGQHYHGMCLDIAVTPLKRAGWQCPECKVCQNCKDGTPGSQSVAEKFEVSWETVMVSSHGAVVVKCDGRGSGFQGTKLLHEVRRR
LGLLEEKDQMEAVRTMLKEQYIDRTRVAVFGKDYGGYLSTYILPAKGENQGQTFTCGSALSPITDFKLYASAFSERYLGLHGLDNRAYEM
TKVAHRVSALEEQQFLIIHPTADEKIHFQHTAELITQLIRGKANYSLQIYPDESHYFTSSSLKQHLYRSIINFFVECFRIQDKLLTVTAK

--------------------------------------------------------------

Top

Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr7:151962123/chr7:154667616)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KMT2C

Q8NEZ4

DPP6

P42658

FUNCTION: Histone methyltransferase that methylates 'Lys-4' of histone H3 (PubMed:22266653). H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. Central component of the MLL2/3 complex, a coactivator complex of nuclear receptors, involved in transcriptional coactivation. KMT2C/MLL3 may be a catalytic subunit of this complex. May be involved in leukemogenesis and developmental disorder. {ECO:0000269|PubMed:17500065, ECO:0000269|PubMed:22266653}.FUNCTION: Promotes cell surface expression of the potassium channel KCND2 (PubMed:15454437, PubMed:19441798). Modulates the activity and gating characteristics of the potassium channel KCND2 (PubMed:18364354). Has no dipeptidyl aminopeptidase activity (PubMed:8103397, PubMed:15476821). {ECO:0000269|PubMed:15454437, ECO:0000269|PubMed:18364354, ECO:0000269|PubMed:8103397, ECO:0000305|PubMed:15476821}.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000262189-85992_112394.66666666666674912.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000355193-86092_112394.66666666666674969.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000262189-85934_46394.66666666666674912.0DNA bindingNote=A.T hook
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000355193-86034_46394.66666666666674969.0DNA bindingNote=A.T hook
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000262189-859227_262394.66666666666674912.0Zinc fingerC2HC pre-PHD-type 1%3B degenerate
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000262189-859283_331394.66666666666674912.0Zinc fingerPHD-type 1
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000262189-859341_391394.66666666666674912.0Zinc fingerPHD-type 2
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000262189-859344_389394.66666666666674912.0Zinc fingerRING-type
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000355193-860227_262394.66666666666674969.0Zinc fingerC2HC pre-PHD-type 1%3B degenerate
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000355193-860283_331394.66666666666674969.0Zinc fingerPHD-type 1
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000355193-860341_391394.66666666666674969.0Zinc fingerPHD-type 2
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000355193-860344_389394.66666666666674969.0Zinc fingerRING-type

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000262189-8591338_1366394.66666666666674912.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000262189-8591754_1787394.66666666666674912.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000262189-8593054_3081394.66666666666674912.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000262189-8593173_3272394.66666666666674912.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000262189-8593391_3433394.66666666666674912.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000262189-859644_672394.66666666666674912.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000355193-8601338_1366394.66666666666674969.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000355193-8601754_1787394.66666666666674969.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000355193-8603054_3081394.66666666666674969.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000355193-8603173_3272394.66666666666674969.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000355193-8603391_3433394.66666666666674969.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000355193-860644_672394.66666666666674969.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000262189-8591719_1796394.66666666666674912.0Compositional biasNote=Gln-rich
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000262189-8591834_2281394.66666666666674912.0Compositional biasNote=Pro-rich
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000262189-8592412_2630394.66666666666674912.0Compositional biasNote=Pro-rich
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000262189-8592690_2786394.66666666666674912.0Compositional biasNote=Asp-rich
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000262189-8593012_3509394.66666666666674912.0Compositional biasNote=Gln-rich
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000262189-8593277_3381394.66666666666674912.0Compositional biasNote=Pro-rich
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000355193-8601719_1796394.66666666666674969.0Compositional biasNote=Gln-rich
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000355193-8601834_2281394.66666666666674969.0Compositional biasNote=Pro-rich
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000355193-8602412_2630394.66666666666674969.0Compositional biasNote=Pro-rich
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000355193-8602690_2786394.66666666666674969.0Compositional biasNote=Asp-rich
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000355193-8603012_3509394.66666666666674969.0Compositional biasNote=Gln-rich
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000355193-8603277_3381394.66666666666674969.0Compositional biasNote=Pro-rich
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000262189-859436_489394.66666666666674912.0DomainDHHC
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000262189-8594545_4605394.66666666666674912.0DomainFYR N-terminal
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000262189-8594606_4691394.66666666666674912.0DomainFYR C-terminal
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000262189-8594771_4887394.66666666666674912.0DomainSET
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000262189-8594895_4911394.66666666666674912.0DomainPost-SET
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000355193-860436_489394.66666666666674969.0DomainDHHC
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000355193-8604545_4605394.66666666666674969.0DomainFYR N-terminal
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000355193-8604606_4691394.66666666666674969.0DomainFYR C-terminal
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000355193-8604771_4887394.66666666666674969.0DomainSET
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000355193-8604895_4911394.66666666666674969.0DomainPost-SET
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000262189-8594848_4849394.66666666666674912.0RegionS-adenosyl-L-methionine binding
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000355193-8604848_4849394.66666666666674969.0RegionS-adenosyl-L-methionine binding
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000262189-8591007_1057394.66666666666674912.0Zinc fingerPHD-type 6
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000262189-8591084_1139394.66666666666674912.0Zinc fingerPHD-type 7
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000262189-859388_438394.66666666666674912.0Zinc fingerPHD-type 3
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000262189-8594399_4439394.66666666666674912.0Zinc fingerC2HC pre-PHD-type 2
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000262189-8594460_4507394.66666666666674912.0Zinc fingerPHD-type 8
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000262189-859464_520394.66666666666674912.0Zinc fingerPHD-type 4
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000262189-859957_1010394.66666666666674912.0Zinc fingerPHD-type 5
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000355193-8601007_1057394.66666666666674969.0Zinc fingerPHD-type 6
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000355193-8601084_1139394.66666666666674969.0Zinc fingerPHD-type 7
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000355193-860388_438394.66666666666674969.0Zinc fingerPHD-type 3
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000355193-8604399_4439394.66666666666674969.0Zinc fingerC2HC pre-PHD-type 2
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000355193-8604460_4507394.66666666666674969.0Zinc fingerPHD-type 8
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000355193-860464_520394.66666666666674969.0Zinc fingerPHD-type 4
HgeneKMT2Cchr7:151962123chr7:154667616ENST00000355193-860957_1010394.66666666666674969.0Zinc fingerPHD-type 5
TgeneDPP6chr7:151962123chr7:154667616ENST000003320071826117_865565.6666666666666804.0Topological domainExtracellular
TgeneDPP6chr7:151962123chr7:154667616ENST0000033200718261_95565.6666666666666804.0Topological domainCytoplasmic
TgeneDPP6chr7:151962123chr7:154667616ENST000003777701826117_865627.6666666666666866.0Topological domainExtracellular
TgeneDPP6chr7:151962123chr7:154667616ENST0000037777018261_95627.6666666666666866.0Topological domainCytoplasmic
TgeneDPP6chr7:151962123chr7:154667616ENST00000332007182696_116565.6666666666666804.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
TgeneDPP6chr7:151962123chr7:154667616ENST00000377770182696_116627.6666666666666866.0TransmembraneHelical%3B Signal-anchor for type II membrane protein


Top

Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
KMT2C
DPP6


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


Top

Related Drugs to KMT2C-DPP6


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

Top

Related Diseases to KMT2C-DPP6


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource