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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:KMT2C-GALNTL5

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: KMT2C-GALNTL5
FusionPDB ID: 43247
FusionGDB2.0 ID: 54206
HgeneTgene
Gene symbol

KMT2C

GALNTL5

Gene ID

58508

168391

Gene namelysine methyltransferase 2Cpolypeptide N-acetylgalactosaminyltransferase like 5
SynonymsHALR|KLEFS2|MLL3GALNACT19|GALNT15|GalNAc-T5L
Cytomap

7q36.1

7q36.1

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 leinactive polypeptide N-acetylgalactosaminyltransferase-like protein 5UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 15UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5galNAc-T15polypeptide GalNAc transfe
Modification date2020032020200313
UniProtAcc

Q8NEZ4

Q7Z4T8

Ensembl transtripts involved in fusion geneENST idsENST00000262189, ENST00000355193, 
ENST00000485241, ENST00000485655, 
ENST00000483959, ENST00000392800, 
ENST00000431418, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score26 X 23 X 12=71762 X 4 X 2=16
# samples 324
** MAII scorelog2(32/7176*10)=-4.4870360800319
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/16*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context (manual curation of fusion genes in FusionPDB)

PubMed: KMT2C [Title/Abstract] AND GALNTL5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)KMT2C(152132711)-GALNTL5(151699799), # samples:2
Anticipated loss of major functional domain due to fusion event.KMT2C-GALNTL5 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-GALNTL5 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-GALNTL5 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-GALNTL5 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-GALNTL5 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
KMT2C-GALNTL5 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
KMT2C-GALNTL5 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
KMT2C-GALNTL5 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
KMT2C-GALNTL5 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
KMT2C-GALNTL5 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted 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

TgeneGALNTL5

GO:0006486

protein glycosylation

24398516


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 GALNTL5 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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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
ChimerDB4OVTCGA-61-1917-01AKMT2Cchr7

152132711

-GALNTL5chr7

151668030

+
ChimerDB4OVTCGA-61-1917-01AKMT2Cchr7

152132711

-GALNTL5chr7

151699799

+
ChimerDB4STADTCGA-BR-4363-01AKMT2Cchr7

152055672

-GALNTL5chr7

151716731

+


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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)
ENST00000262189KMT2Cchr7152055672-ENST00000431418GALNTL5chr7151716731+7504694242141
ENST00000355193KMT2Cchr7152055672-ENST00000431418GALNTL5chr7151716731+7504694242141

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
ENST00000262189ENST00000431418KMT2Cchr7152055672-GALNTL5chr7151716731+0.095712380.90428764
ENST00000355193ENST00000431418KMT2Cchr7152055672-GALNTL5chr7151716731+0.095712380.90428764

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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

>43247_43247_1_KMT2C-GALNTL5_KMT2C_chr7_152055672_ENST00000262189_GALNTL5_chr7_151716731_ENST00000431418_length(amino acids)=141AA_BP=
MLSSSSTAVFPLLRGFFLALWKGEAPSLRGRPRGLLSAAAGLGAGAPGSSGGGGGGCGCSTLLSSSDDILVTRKDTWIPVLLLGGSRRRG

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

>43247_43247_2_KMT2C-GALNTL5_KMT2C_chr7_152055672_ENST00000355193_GALNTL5_chr7_151716731_ENST00000431418_length(amino acids)=141AA_BP=
MLSSSSTAVFPLLRGFFLALWKGEAPSLRGRPRGLLSAAAGLGAGAPGSSGGGGGGCGCSTLLSSSDDILVTRKDTWIPVLLLGGSRRRG

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

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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/chr7:152132711/chr7:151699799)
- 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

GALNTL5

Q7Z4T8

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: Probable inactive glycosyltransferase required during spermatid development. May participate in protein loading into the acrosomes and accumulation of ubiquitin-proteasome systems around the head-tail coupling apparatus region.

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
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000262189-25934_4683.333333333333334912.0DNA bindingNote=A.T hook
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000355193-26034_4683.333333333333334969.0DNA bindingNote=A.T hook

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000262189-2591338_136683.333333333333334912.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000262189-2591754_178783.333333333333334912.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000262189-2593054_308183.333333333333334912.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000262189-2593173_327283.333333333333334912.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000262189-2593391_343383.333333333333334912.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000262189-259644_67283.333333333333334912.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000262189-25992_11283.333333333333334912.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000355193-2601338_136683.333333333333334969.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000355193-2601754_178783.333333333333334969.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000355193-2603054_308183.333333333333334969.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000355193-2603173_327283.333333333333334969.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000355193-2603391_343383.333333333333334969.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000355193-260644_67283.333333333333334969.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000355193-26092_11283.333333333333334969.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000262189-2591719_179683.333333333333334912.0Compositional biasNote=Gln-rich
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000262189-2591834_228183.333333333333334912.0Compositional biasNote=Pro-rich
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000262189-2592412_263083.333333333333334912.0Compositional biasNote=Pro-rich
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000262189-2592690_278683.333333333333334912.0Compositional biasNote=Asp-rich
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000262189-2593012_350983.333333333333334912.0Compositional biasNote=Gln-rich
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000262189-2593277_338183.333333333333334912.0Compositional biasNote=Pro-rich
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000355193-2601719_179683.333333333333334969.0Compositional biasNote=Gln-rich
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000355193-2601834_228183.333333333333334969.0Compositional biasNote=Pro-rich
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000355193-2602412_263083.333333333333334969.0Compositional biasNote=Pro-rich
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000355193-2602690_278683.333333333333334969.0Compositional biasNote=Asp-rich
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000355193-2603012_350983.333333333333334969.0Compositional biasNote=Gln-rich
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000355193-2603277_338183.333333333333334969.0Compositional biasNote=Pro-rich
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000262189-259436_48983.333333333333334912.0DomainDHHC
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000262189-2594545_460583.333333333333334912.0DomainFYR N-terminal
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000262189-2594606_469183.333333333333334912.0DomainFYR C-terminal
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000262189-2594771_488783.333333333333334912.0DomainSET
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000262189-2594895_491183.333333333333334912.0DomainPost-SET
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000355193-260436_48983.333333333333334969.0DomainDHHC
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000355193-2604545_460583.333333333333334969.0DomainFYR N-terminal
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000355193-2604606_469183.333333333333334969.0DomainFYR C-terminal
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000355193-2604771_488783.333333333333334969.0DomainSET
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000355193-2604895_491183.333333333333334969.0DomainPost-SET
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000262189-2594848_484983.333333333333334912.0RegionS-adenosyl-L-methionine binding
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000355193-2604848_484983.333333333333334969.0RegionS-adenosyl-L-methionine binding
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000262189-2591007_105783.333333333333334912.0Zinc fingerPHD-type 6
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000262189-2591084_113983.333333333333334912.0Zinc fingerPHD-type 7
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000262189-259227_26283.333333333333334912.0Zinc fingerC2HC pre-PHD-type 1%3B degenerate
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000262189-259283_33183.333333333333334912.0Zinc fingerPHD-type 1
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000262189-259341_39183.333333333333334912.0Zinc fingerPHD-type 2
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000262189-259344_38983.333333333333334912.0Zinc fingerRING-type
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000262189-259388_43883.333333333333334912.0Zinc fingerPHD-type 3
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000262189-2594399_443983.333333333333334912.0Zinc fingerC2HC pre-PHD-type 2
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000262189-2594460_450783.333333333333334912.0Zinc fingerPHD-type 8
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000262189-259464_52083.333333333333334912.0Zinc fingerPHD-type 4
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000262189-259957_101083.333333333333334912.0Zinc fingerPHD-type 5
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000355193-2601007_105783.333333333333334969.0Zinc fingerPHD-type 6
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000355193-2601084_113983.333333333333334969.0Zinc fingerPHD-type 7
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000355193-260227_26283.333333333333334969.0Zinc fingerC2HC pre-PHD-type 1%3B degenerate
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000355193-260283_33183.333333333333334969.0Zinc fingerPHD-type 1
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000355193-260341_39183.333333333333334969.0Zinc fingerPHD-type 2
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000355193-260344_38983.333333333333334969.0Zinc fingerRING-type
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000355193-260388_43883.333333333333334969.0Zinc fingerPHD-type 3
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000355193-2604399_443983.333333333333334969.0Zinc fingerC2HC pre-PHD-type 2
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000355193-2604460_450783.333333333333334969.0Zinc fingerPHD-type 8
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000355193-260464_52083.333333333333334969.0Zinc fingerPHD-type 4
HgeneKMT2Cchr7:152055672chr7:151716731ENST00000355193-260957_101083.333333333333334969.0Zinc fingerPHD-type 5
TgeneGALNTL5chr7:152055672chr7:151716731ENST0000039280079133_243392.0444.0RegionNote=Catalytic subdomain A
TgeneGALNTL5chr7:152055672chr7:151716731ENST0000039280079301_363392.0444.0RegionNote=Catalytic subdomain B
TgeneGALNTL5chr7:152055672chr7:151716731ENST00000431418810133_243392.0444.0RegionNote=Catalytic subdomain A
TgeneGALNTL5chr7:152055672chr7:151716731ENST00000431418810301_363392.0444.0RegionNote=Catalytic subdomain B
TgeneGALNTL5chr7:152055672chr7:151716731ENST00000392800791_4392.0444.0Topological domainCytoplasmic
TgeneGALNTL5chr7:152055672chr7:151716731ENST000003928007928_443392.0444.0Topological domainLumenal
TgeneGALNTL5chr7:152055672chr7:151716731ENST000004314188101_4392.0444.0Topological domainCytoplasmic
TgeneGALNTL5chr7:152055672chr7:151716731ENST0000043141881028_443392.0444.0Topological domainLumenal
TgeneGALNTL5chr7:152055672chr7:151716731ENST00000392800795_27392.0444.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
TgeneGALNTL5chr7:152055672chr7:151716731ENST000004314188105_27392.0444.0TransmembraneHelical%3B Signal-anchor for type II membrane protein


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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
GALNTL5


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


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Related Drugs to KMT2C-GALNTL5


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

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Related Diseases to KMT2C-GALNTL5


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