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-IRF5

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: KMT2C-IRF5
FusionPDB ID: 43250
FusionGDB2.0 ID: 54208
HgeneTgene
Gene symbol

KMT2C

IRF5

Gene ID

58508

3663

Gene namelysine methyltransferase 2Cinterferon regulatory factor 5
SynonymsHALR|KLEFS2|MLL3SLEB10
Cytomap

7q36.1

7q32.1

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 leinterferon regulatory factor 5
Modification date2020032020200315
UniProtAcc

Q8NEZ4

Q13568

Ensembl transtripts involved in fusion geneENST idsENST00000262189, ENST00000355193, 
ENST00000485241, ENST00000485655, 
ENST00000249375, ENST00000357234, 
ENST00000402030, ENST00000473745, 
ENST00000477535, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score26 X 23 X 12=71761 X 2 X 1=2
# samples 321
** MAII scorelog2(32/7176*10)=-4.4870360800319
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(1/2*10)=2.32192809488736
Context (manual curation of fusion genes in FusionPDB)

PubMed: KMT2C [Title/Abstract] AND IRF5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)KMT2C(151980068)-IRF5(128582125), # samples:2
Anticipated loss of major functional domain due to fusion event.KMT2C-IRF5 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-IRF5 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-IRF5 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-IRF5 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

TgeneIRF5

GO:0032494

response to peptidoglycan

22412986

TgeneIRF5

GO:0032495

response to muramyl dipeptide

22412986

TgeneIRF5

GO:0045944

positive regulation of transcription by RNA polymerase II

12600985|22412986


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 IRF5 (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-D3-A3C3-06AKMT2Cchr7

151980068

-IRF5chr7

128582125

+
ChimerDB4SKCMTCGA-D3-A3C3-06AKMT2Cchr7

152007051

-IRF5chr7

128582125

+
ChimerDB4SKCMTCGA-D3-A3C3-06AKMT2Cchr7

152007051

-IRF5chr7

128585899

+


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)
ENST00000262189KMT2Cchr7152007051-ENST00000477535IRF5chr7128585899+212610682072111634
ENST00000262189KMT2Cchr7152007051-ENST00000357234IRF5chr7128585899+243210682072417736
ENST00000262189KMT2Cchr7152007051-ENST00000402030IRF5chr7128585899+358710682072369720
ENST00000262189KMT2Cchr7152007051-ENST00000249375IRF5chr7128585899+358210682072369720
ENST00000262189KMT2Cchr7152007051-ENST00000473745IRF5chr7128585899+294010682072369720
ENST00000355193KMT2Cchr7152007051-ENST00000477535IRF5chr7128585899+212610682072111634
ENST00000355193KMT2Cchr7152007051-ENST00000357234IRF5chr7128585899+243210682072417736
ENST00000355193KMT2Cchr7152007051-ENST00000402030IRF5chr7128585899+358710682072369720
ENST00000355193KMT2Cchr7152007051-ENST00000249375IRF5chr7128585899+358210682072369720
ENST00000355193KMT2Cchr7152007051-ENST00000473745IRF5chr7128585899+294010682072369720

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
ENST00000262189ENST00000477535KMT2Cchr7152007051-IRF5chr7128585899+0.0084010120.99159896
ENST00000262189ENST00000357234KMT2Cchr7152007051-IRF5chr7128585899+0.0117020620.988298
ENST00000262189ENST00000402030KMT2Cchr7152007051-IRF5chr7128585899+0.0042377850.9957623
ENST00000262189ENST00000249375KMT2Cchr7152007051-IRF5chr7128585899+0.0043107310.9956892
ENST00000262189ENST00000473745KMT2Cchr7152007051-IRF5chr7128585899+0.0073686260.99263144
ENST00000355193ENST00000477535KMT2Cchr7152007051-IRF5chr7128585899+0.0084010120.99159896
ENST00000355193ENST00000357234KMT2Cchr7152007051-IRF5chr7128585899+0.0117020620.988298
ENST00000355193ENST00000402030KMT2Cchr7152007051-IRF5chr7128585899+0.0042377850.9957623
ENST00000355193ENST00000249375KMT2Cchr7152007051-IRF5chr7128585899+0.0043107310.9956892
ENST00000355193ENST00000473745KMT2Cchr7152007051-IRF5chr7128585899+0.0073686260.99263144

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

>43250_43250_1_KMT2C-IRF5_KMT2C_chr7_152007051_ENST00000262189_IRF5_chr7_128585899_ENST00000249375_length(amino acids)=720AA_BP=287
MVTRMSSEEDKSVEQPQPPPPPPEEPGAPAPSPAAADKRPRGRPRKDGASPFQRARKKPRSRGKTAVEDEDSMDGLETTETETIVETEIK
EQSAEEDAEAEVDNSKQLIPTLQRSVSEESANSLVSVGVEAKISEQLCAFCYCGEKSSLGQGDLKQFRITPGFILPWRNQPSNKKDIDDN
SNGTYEKMQNSAPRKQRGQRKERSPQQNIVSCVSVSTQTASDDQAGKLWDELSLVGLPDAIDIQALFDSTGTCWAHHRCVEWSLGVCQME
EPLLVNVDKAVVSGSTEAWAKETGKYTEGVDEADPAKWKANLRCALNKSRDFRLIYDGPRDMPPQPYKIYEVCSNGPAPTDSQPPEDYSF
GAGEEEEEEEELQRMLPSLSLTEDVKWPPTLQPPTLRPPTLQPPTLQPPVVLGPPAPDPSPLAPPPGNPAGFRELLSEVLEPGPLPASLP
PAGEQLLPDLLISPHMLPLTDLEIKFQYRGRPPRALTISNPHGCRLFYSQLEATQEQVELFGPISLEQVRFPSPEDIPSDKQRFYTNQLL
DVLDRGLILQLQGQDLYAIRLCQCKVFWSGPCASAHDSCPNPIQREVKTKLFSLEHFLNELILFQKGQTNTPPPFEIFFCFGEEWPDRKP
REKKLITVQVVPVAARLLLEMFSGELSWSADSIRLQISNPDLKDRMVEQFKELHHIWQSQQRLQPVAQAPPGAGLGVGQGPWPMHPAGMQ

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

>43250_43250_2_KMT2C-IRF5_KMT2C_chr7_152007051_ENST00000262189_IRF5_chr7_128585899_ENST00000357234_length(amino acids)=736AA_BP=287
MVTRMSSEEDKSVEQPQPPPPPPEEPGAPAPSPAAADKRPRGRPRKDGASPFQRARKKPRSRGKTAVEDEDSMDGLETTETETIVETEIK
EQSAEEDAEAEVDNSKQLIPTLQRSVSEESANSLVSVGVEAKISEQLCAFCYCGEKSSLGQGDLKQFRITPGFILPWRNQPSNKKDIDDN
SNGTYEKMQNSAPRKQRGQRKERSPQQNIVSCVSVSTQTASDDQAGKLWDELSLVGLPDAIDIQALFDSTGTCWAHHRCVEWSLGVCQME
EPLLVNVDKAVVSGSTEAWAKETGKYTEGVDEADPAKWKANLRCALNKSRDFRLIYDGPRDMPPQPYKIYEVCSNGPAPTDSQPPEDYSF
GAGEEEEEEEELQRMLPSLSLTDAVQSGPHMTPYSLLKEDVKWPPTLQPPTLRPPTLQPPTLQPPVVLGPPAPDPSPLAPPPGNPAGFRE
LLSEVLEPGPLPASLPPAGEQLLPDLLISPHMLPLTDLEIKFQYRGRPPRALTISNPHGCRLFYSQLEATQEQVELFGPISLEQVRFPSP
EDIPSDKQRFYTNQLLDVLDRGLILQLQGQDLYAIRLCQCKVFWSGPCASAHDSCPNPIQREVKTKLFSLEHFLNELILFQKGQTNTPPP
FEIFFCFGEEWPDRKPREKKLITVQVVPVAARLLLEMFSGELSWSADSIRLQISNPDLKDRMVEQFKELHHIWQSQQRLQPVAQAPPGAG

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

>43250_43250_3_KMT2C-IRF5_KMT2C_chr7_152007051_ENST00000262189_IRF5_chr7_128585899_ENST00000402030_length(amino acids)=720AA_BP=287
MVTRMSSEEDKSVEQPQPPPPPPEEPGAPAPSPAAADKRPRGRPRKDGASPFQRARKKPRSRGKTAVEDEDSMDGLETTETETIVETEIK
EQSAEEDAEAEVDNSKQLIPTLQRSVSEESANSLVSVGVEAKISEQLCAFCYCGEKSSLGQGDLKQFRITPGFILPWRNQPSNKKDIDDN
SNGTYEKMQNSAPRKQRGQRKERSPQQNIVSCVSVSTQTASDDQAGKLWDELSLVGLPDAIDIQALFDSTGTCWAHHRCVEWSLGVCQME
EPLLVNVDKAVVSGSTEAWAKETGKYTEGVDEADPAKWKANLRCALNKSRDFRLIYDGPRDMPPQPYKIYEVCSNGPAPTDSQPPEDYSF
GAGEEEEEEEELQRMLPSLSLTEDVKWPPTLQPPTLRPPTLQPPTLQPPVVLGPPAPDPSPLAPPPGNPAGFRELLSEVLEPGPLPASLP
PAGEQLLPDLLISPHMLPLTDLEIKFQYRGRPPRALTISNPHGCRLFYSQLEATQEQVELFGPISLEQVRFPSPEDIPSDKQRFYTNQLL
DVLDRGLILQLQGQDLYAIRLCQCKVFWSGPCASAHDSCPNPIQREVKTKLFSLEHFLNELILFQKGQTNTPPPFEIFFCFGEEWPDRKP
REKKLITVQVVPVAARLLLEMFSGELSWSADSIRLQISNPDLKDRMVEQFKELHHIWQSQQRLQPVAQAPPGAGLGVGQGPWPMHPAGMQ

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

>43250_43250_4_KMT2C-IRF5_KMT2C_chr7_152007051_ENST00000262189_IRF5_chr7_128585899_ENST00000473745_length(amino acids)=720AA_BP=287
MVTRMSSEEDKSVEQPQPPPPPPEEPGAPAPSPAAADKRPRGRPRKDGASPFQRARKKPRSRGKTAVEDEDSMDGLETTETETIVETEIK
EQSAEEDAEAEVDNSKQLIPTLQRSVSEESANSLVSVGVEAKISEQLCAFCYCGEKSSLGQGDLKQFRITPGFILPWRNQPSNKKDIDDN
SNGTYEKMQNSAPRKQRGQRKERSPQQNIVSCVSVSTQTASDDQAGKLWDELSLVGLPDAIDIQALFDSTGTCWAHHRCVEWSLGVCQME
EPLLVNVDKAVVSGSTEAWAKETGKYTEGVDEADPAKWKANLRCALNKSRDFRLIYDGPRDMPPQPYKIYEVCSNGPAPTDSQPPEDYSF
GAGEEEEEEEELQRMLPSLSLTEDVKWPPTLQPPTLRPPTLQPPTLQPPVVLGPPAPDPSPLAPPPGNPAGFRELLSEVLEPGPLPASLP
PAGEQLLPDLLISPHMLPLTDLEIKFQYRGRPPRALTISNPHGCRLFYSQLEATQEQVELFGPISLEQVRFPSPEDIPSDKQRFYTNQLL
DVLDRGLILQLQGQDLYAIRLCQCKVFWSGPCASAHDSCPNPIQREVKTKLFSLEHFLNELILFQKGQTNTPPPFEIFFCFGEEWPDRKP
REKKLITVQVVPVAARLLLEMFSGELSWSADSIRLQISNPDLKDRMVEQFKELHHIWQSQQRLQPVAQAPPGAGLGVGQGPWPMHPAGMQ

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

>43250_43250_5_KMT2C-IRF5_KMT2C_chr7_152007051_ENST00000262189_IRF5_chr7_128585899_ENST00000477535_length(amino acids)=634AA_BP=287
MVTRMSSEEDKSVEQPQPPPPPPEEPGAPAPSPAAADKRPRGRPRKDGASPFQRARKKPRSRGKTAVEDEDSMDGLETTETETIVETEIK
EQSAEEDAEAEVDNSKQLIPTLQRSVSEESANSLVSVGVEAKISEQLCAFCYCGEKSSLGQGDLKQFRITPGFILPWRNQPSNKKDIDDN
SNGTYEKMQNSAPRKQRGQRKERSPQQNIVSCVSVSTQTASDDQAGKLWDELSLVGLPDAIDIQALFDSTGTCWAHHRCVEWSLGVCQME
EPLLVNVDKAVVSGSTEAWAKETGKYTEGVDEADPAKWKANLRCALNKSRDFRLIYDGPRDMPPQPYKIYEVCSNGPAPTDSQPPEDYSF
GAGEEEEEEEELQRMLPSLSLTVTDLEIKFQYRGRPPRALTISNPHGCRLFYSQLEATQEQVELFGPISLEQVRFPSPEDIPSDKQRFYT
NQLLDVLDRGLILQLQGQDLYAIRLCQCKVFWSGPCASAHDSCPNPIQREVKTKLFSLEHFLNELILFQKGQTNTPPPFEIFFCFGEEWP
DRKPREKKLITVQVVPVAARLLLEMFSGELSWSADSIRLQISNPDLKDRMVEQFKELHHIWQSQQRLQPVAQAPPGAGLGVGQGPWPMHP

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

>43250_43250_6_KMT2C-IRF5_KMT2C_chr7_152007051_ENST00000355193_IRF5_chr7_128585899_ENST00000249375_length(amino acids)=720AA_BP=287
MVTRMSSEEDKSVEQPQPPPPPPEEPGAPAPSPAAADKRPRGRPRKDGASPFQRARKKPRSRGKTAVEDEDSMDGLETTETETIVETEIK
EQSAEEDAEAEVDNSKQLIPTLQRSVSEESANSLVSVGVEAKISEQLCAFCYCGEKSSLGQGDLKQFRITPGFILPWRNQPSNKKDIDDN
SNGTYEKMQNSAPRKQRGQRKERSPQQNIVSCVSVSTQTASDDQAGKLWDELSLVGLPDAIDIQALFDSTGTCWAHHRCVEWSLGVCQME
EPLLVNVDKAVVSGSTEAWAKETGKYTEGVDEADPAKWKANLRCALNKSRDFRLIYDGPRDMPPQPYKIYEVCSNGPAPTDSQPPEDYSF
GAGEEEEEEEELQRMLPSLSLTEDVKWPPTLQPPTLRPPTLQPPTLQPPVVLGPPAPDPSPLAPPPGNPAGFRELLSEVLEPGPLPASLP
PAGEQLLPDLLISPHMLPLTDLEIKFQYRGRPPRALTISNPHGCRLFYSQLEATQEQVELFGPISLEQVRFPSPEDIPSDKQRFYTNQLL
DVLDRGLILQLQGQDLYAIRLCQCKVFWSGPCASAHDSCPNPIQREVKTKLFSLEHFLNELILFQKGQTNTPPPFEIFFCFGEEWPDRKP
REKKLITVQVVPVAARLLLEMFSGELSWSADSIRLQISNPDLKDRMVEQFKELHHIWQSQQRLQPVAQAPPGAGLGVGQGPWPMHPAGMQ

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

>43250_43250_7_KMT2C-IRF5_KMT2C_chr7_152007051_ENST00000355193_IRF5_chr7_128585899_ENST00000357234_length(amino acids)=736AA_BP=287
MVTRMSSEEDKSVEQPQPPPPPPEEPGAPAPSPAAADKRPRGRPRKDGASPFQRARKKPRSRGKTAVEDEDSMDGLETTETETIVETEIK
EQSAEEDAEAEVDNSKQLIPTLQRSVSEESANSLVSVGVEAKISEQLCAFCYCGEKSSLGQGDLKQFRITPGFILPWRNQPSNKKDIDDN
SNGTYEKMQNSAPRKQRGQRKERSPQQNIVSCVSVSTQTASDDQAGKLWDELSLVGLPDAIDIQALFDSTGTCWAHHRCVEWSLGVCQME
EPLLVNVDKAVVSGSTEAWAKETGKYTEGVDEADPAKWKANLRCALNKSRDFRLIYDGPRDMPPQPYKIYEVCSNGPAPTDSQPPEDYSF
GAGEEEEEEEELQRMLPSLSLTDAVQSGPHMTPYSLLKEDVKWPPTLQPPTLRPPTLQPPTLQPPVVLGPPAPDPSPLAPPPGNPAGFRE
LLSEVLEPGPLPASLPPAGEQLLPDLLISPHMLPLTDLEIKFQYRGRPPRALTISNPHGCRLFYSQLEATQEQVELFGPISLEQVRFPSP
EDIPSDKQRFYTNQLLDVLDRGLILQLQGQDLYAIRLCQCKVFWSGPCASAHDSCPNPIQREVKTKLFSLEHFLNELILFQKGQTNTPPP
FEIFFCFGEEWPDRKPREKKLITVQVVPVAARLLLEMFSGELSWSADSIRLQISNPDLKDRMVEQFKELHHIWQSQQRLQPVAQAPPGAG

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

>43250_43250_8_KMT2C-IRF5_KMT2C_chr7_152007051_ENST00000355193_IRF5_chr7_128585899_ENST00000402030_length(amino acids)=720AA_BP=287
MVTRMSSEEDKSVEQPQPPPPPPEEPGAPAPSPAAADKRPRGRPRKDGASPFQRARKKPRSRGKTAVEDEDSMDGLETTETETIVETEIK
EQSAEEDAEAEVDNSKQLIPTLQRSVSEESANSLVSVGVEAKISEQLCAFCYCGEKSSLGQGDLKQFRITPGFILPWRNQPSNKKDIDDN
SNGTYEKMQNSAPRKQRGQRKERSPQQNIVSCVSVSTQTASDDQAGKLWDELSLVGLPDAIDIQALFDSTGTCWAHHRCVEWSLGVCQME
EPLLVNVDKAVVSGSTEAWAKETGKYTEGVDEADPAKWKANLRCALNKSRDFRLIYDGPRDMPPQPYKIYEVCSNGPAPTDSQPPEDYSF
GAGEEEEEEEELQRMLPSLSLTEDVKWPPTLQPPTLRPPTLQPPTLQPPVVLGPPAPDPSPLAPPPGNPAGFRELLSEVLEPGPLPASLP
PAGEQLLPDLLISPHMLPLTDLEIKFQYRGRPPRALTISNPHGCRLFYSQLEATQEQVELFGPISLEQVRFPSPEDIPSDKQRFYTNQLL
DVLDRGLILQLQGQDLYAIRLCQCKVFWSGPCASAHDSCPNPIQREVKTKLFSLEHFLNELILFQKGQTNTPPPFEIFFCFGEEWPDRKP
REKKLITVQVVPVAARLLLEMFSGELSWSADSIRLQISNPDLKDRMVEQFKELHHIWQSQQRLQPVAQAPPGAGLGVGQGPWPMHPAGMQ

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

>43250_43250_9_KMT2C-IRF5_KMT2C_chr7_152007051_ENST00000355193_IRF5_chr7_128585899_ENST00000473745_length(amino acids)=720AA_BP=287
MVTRMSSEEDKSVEQPQPPPPPPEEPGAPAPSPAAADKRPRGRPRKDGASPFQRARKKPRSRGKTAVEDEDSMDGLETTETETIVETEIK
EQSAEEDAEAEVDNSKQLIPTLQRSVSEESANSLVSVGVEAKISEQLCAFCYCGEKSSLGQGDLKQFRITPGFILPWRNQPSNKKDIDDN
SNGTYEKMQNSAPRKQRGQRKERSPQQNIVSCVSVSTQTASDDQAGKLWDELSLVGLPDAIDIQALFDSTGTCWAHHRCVEWSLGVCQME
EPLLVNVDKAVVSGSTEAWAKETGKYTEGVDEADPAKWKANLRCALNKSRDFRLIYDGPRDMPPQPYKIYEVCSNGPAPTDSQPPEDYSF
GAGEEEEEEEELQRMLPSLSLTEDVKWPPTLQPPTLRPPTLQPPTLQPPVVLGPPAPDPSPLAPPPGNPAGFRELLSEVLEPGPLPASLP
PAGEQLLPDLLISPHMLPLTDLEIKFQYRGRPPRALTISNPHGCRLFYSQLEATQEQVELFGPISLEQVRFPSPEDIPSDKQRFYTNQLL
DVLDRGLILQLQGQDLYAIRLCQCKVFWSGPCASAHDSCPNPIQREVKTKLFSLEHFLNELILFQKGQTNTPPPFEIFFCFGEEWPDRKP
REKKLITVQVVPVAARLLLEMFSGELSWSADSIRLQISNPDLKDRMVEQFKELHHIWQSQQRLQPVAQAPPGAGLGVGQGPWPMHPAGMQ

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

>43250_43250_10_KMT2C-IRF5_KMT2C_chr7_152007051_ENST00000355193_IRF5_chr7_128585899_ENST00000477535_length(amino acids)=634AA_BP=287
MVTRMSSEEDKSVEQPQPPPPPPEEPGAPAPSPAAADKRPRGRPRKDGASPFQRARKKPRSRGKTAVEDEDSMDGLETTETETIVETEIK
EQSAEEDAEAEVDNSKQLIPTLQRSVSEESANSLVSVGVEAKISEQLCAFCYCGEKSSLGQGDLKQFRITPGFILPWRNQPSNKKDIDDN
SNGTYEKMQNSAPRKQRGQRKERSPQQNIVSCVSVSTQTASDDQAGKLWDELSLVGLPDAIDIQALFDSTGTCWAHHRCVEWSLGVCQME
EPLLVNVDKAVVSGSTEAWAKETGKYTEGVDEADPAKWKANLRCALNKSRDFRLIYDGPRDMPPQPYKIYEVCSNGPAPTDSQPPEDYSF
GAGEEEEEEEELQRMLPSLSLTVTDLEIKFQYRGRPPRALTISNPHGCRLFYSQLEATQEQVELFGPISLEQVRFPSPEDIPSDKQRFYT
NQLLDVLDRGLILQLQGQDLYAIRLCQCKVFWSGPCASAHDSCPNPIQREVKTKLFSLEHFLNELILFQKGQTNTPPPFEIFFCFGEEWP
DRKPREKKLITVQVVPVAARLLLEMFSGELSWSADSIRLQISNPDLKDRMVEQFKELHHIWQSQQRLQPVAQAPPGAGLGVGQGPWPMHP

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

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/chr7:151980068/chr7:128582125)
- 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

IRF5

Q13568

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: Transcription factor that plays a critical role in innate immunity by activating expression of type I interferon (IFN) IFNA and INFB and inflammatory cytokines downstream of endolysosomal toll-like receptors TLR7, TLR8 and TLR9 (PubMed:11303025, PubMed:15695821, PubMed:22412986, PubMed:25326418, PubMed:32433612). Regulates the transcription of type I IFN genes (IFN-alpha and IFN-beta) and IFN-stimulated genes (ISG) by binding to an interferon-stimulated response element (ISRE) in their promoters (By similarity). Can efficiently activate both the IFN-beta (IFNB) and the IFN-alpha (IFNA) genes and mediate their induction downstream of the TLR-activated, MyD88-dependent pathway (By similarity). Key transcription factor regulating the IFN response during SARS-CoV-2 infection (PubMed:33440148). {ECO:0000250|UniProtKB:P56477, ECO:0000269|PubMed:11303025, ECO:0000269|PubMed:15695821, ECO:0000269|PubMed:22412986, ECO:0000269|PubMed:25326418, ECO:0000269|PubMed:32433612, ECO:0000269|PubMed:33440148}.

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
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000262189-65992_112283.04912.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000355193-66092_112283.04969.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000262189-65934_46283.04912.0DNA bindingNote=A.T hook
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000355193-66034_46283.04969.0DNA bindingNote=A.T hook
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000262189-659227_262283.04912.0Zinc fingerC2HC pre-PHD-type 1%3B degenerate
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000355193-660227_262283.04969.0Zinc fingerC2HC pre-PHD-type 1%3B degenerate
TgeneIRF5chr7:152007051chr7:128585899ENST0000024937519142_14965.0499.0Compositional biasNote=Poly-Glu
TgeneIRF5chr7:152007051chr7:128585899ENST0000035723419142_14965.0515.0Compositional biasNote=Poly-Glu
TgeneIRF5chr7:152007051chr7:128585899ENST0000040203019142_14965.0499.0Compositional biasNote=Poly-Glu
TgeneIRF5chr7:152007051chr7:128585899ENST0000047374519142_14965.0499.0Compositional biasNote=Poly-Glu
TgeneIRF5chr7:152007051chr7:128585899ENST0000047753518142_14965.0413.0Compositional biasNote=Poly-Glu
TgeneIRF5chr7:152007051chr7:128585899ENST0000024937519150_16065.0499.0MotifNuclear export signal
TgeneIRF5chr7:152007051chr7:128585899ENST0000035723419150_16065.0515.0MotifNuclear export signal
TgeneIRF5chr7:152007051chr7:128585899ENST0000040203019150_16065.0499.0MotifNuclear export signal
TgeneIRF5chr7:152007051chr7:128585899ENST0000047374519150_16065.0499.0MotifNuclear export signal
TgeneIRF5chr7:152007051chr7:128585899ENST0000047753518150_16065.0413.0MotifNuclear export signal

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000262189-6591338_1366283.04912.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000262189-6591754_1787283.04912.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000262189-6593054_3081283.04912.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000262189-6593173_3272283.04912.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000262189-6593391_3433283.04912.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000262189-659644_672283.04912.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000355193-6601338_1366283.04969.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000355193-6601754_1787283.04969.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000355193-6603054_3081283.04969.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000355193-6603173_3272283.04969.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000355193-6603391_3433283.04969.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000355193-660644_672283.04969.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000262189-6591719_1796283.04912.0Compositional biasNote=Gln-rich
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000262189-6591834_2281283.04912.0Compositional biasNote=Pro-rich
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000262189-6592412_2630283.04912.0Compositional biasNote=Pro-rich
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000262189-6592690_2786283.04912.0Compositional biasNote=Asp-rich
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000262189-6593012_3509283.04912.0Compositional biasNote=Gln-rich
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000262189-6593277_3381283.04912.0Compositional biasNote=Pro-rich
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000355193-6601719_1796283.04969.0Compositional biasNote=Gln-rich
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000355193-6601834_2281283.04969.0Compositional biasNote=Pro-rich
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000355193-6602412_2630283.04969.0Compositional biasNote=Pro-rich
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000355193-6602690_2786283.04969.0Compositional biasNote=Asp-rich
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000355193-6603012_3509283.04969.0Compositional biasNote=Gln-rich
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000355193-6603277_3381283.04969.0Compositional biasNote=Pro-rich
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000262189-659436_489283.04912.0DomainDHHC
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000262189-6594545_4605283.04912.0DomainFYR N-terminal
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000262189-6594606_4691283.04912.0DomainFYR C-terminal
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000262189-6594771_4887283.04912.0DomainSET
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000262189-6594895_4911283.04912.0DomainPost-SET
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000355193-660436_489283.04969.0DomainDHHC
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000355193-6604545_4605283.04969.0DomainFYR N-terminal
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000355193-6604606_4691283.04969.0DomainFYR C-terminal
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000355193-6604771_4887283.04969.0DomainSET
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000355193-6604895_4911283.04969.0DomainPost-SET
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000262189-6594848_4849283.04912.0RegionS-adenosyl-L-methionine binding
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000355193-6604848_4849283.04969.0RegionS-adenosyl-L-methionine binding
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000262189-6591007_1057283.04912.0Zinc fingerPHD-type 6
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000262189-6591084_1139283.04912.0Zinc fingerPHD-type 7
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000262189-659283_331283.04912.0Zinc fingerPHD-type 1
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000262189-659341_391283.04912.0Zinc fingerPHD-type 2
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000262189-659344_389283.04912.0Zinc fingerRING-type
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000262189-659388_438283.04912.0Zinc fingerPHD-type 3
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000262189-6594399_4439283.04912.0Zinc fingerC2HC pre-PHD-type 2
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000262189-6594460_4507283.04912.0Zinc fingerPHD-type 8
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000262189-659464_520283.04912.0Zinc fingerPHD-type 4
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000262189-659957_1010283.04912.0Zinc fingerPHD-type 5
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000355193-6601007_1057283.04969.0Zinc fingerPHD-type 6
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000355193-6601084_1139283.04969.0Zinc fingerPHD-type 7
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000355193-660283_331283.04969.0Zinc fingerPHD-type 1
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000355193-660341_391283.04969.0Zinc fingerPHD-type 2
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000355193-660344_389283.04969.0Zinc fingerRING-type
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000355193-660388_438283.04969.0Zinc fingerPHD-type 3
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000355193-6604399_4439283.04969.0Zinc fingerC2HC pre-PHD-type 2
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000355193-6604460_4507283.04969.0Zinc fingerPHD-type 8
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000355193-660464_520283.04969.0Zinc fingerPHD-type 4
HgeneKMT2Cchr7:152007051chr7:128585899ENST00000355193-660957_1010283.04969.0Zinc fingerPHD-type 5
TgeneIRF5chr7:152007051chr7:128585899ENST000002493751914_12265.0499.0DNA bindingIRF tryptophan pentad repeat
TgeneIRF5chr7:152007051chr7:128585899ENST000003572341914_12265.0515.0DNA bindingIRF tryptophan pentad repeat
TgeneIRF5chr7:152007051chr7:128585899ENST000004020301914_12265.0499.0DNA bindingIRF tryptophan pentad repeat
TgeneIRF5chr7:152007051chr7:128585899ENST000004737451914_12265.0499.0DNA bindingIRF tryptophan pentad repeat
TgeneIRF5chr7:152007051chr7:128585899ENST000004775351814_12265.0413.0DNA bindingIRF tryptophan pentad repeat
TgeneIRF5chr7:152007051chr7:128585899ENST000002493751912_1865.0499.0MotifNuclear localization signal
TgeneIRF5chr7:152007051chr7:128585899ENST000003572341912_1865.0515.0MotifNuclear localization signal
TgeneIRF5chr7:152007051chr7:128585899ENST000004020301912_1865.0499.0MotifNuclear localization signal
TgeneIRF5chr7:152007051chr7:128585899ENST000004737451912_1865.0499.0MotifNuclear localization signal
TgeneIRF5chr7:152007051chr7:128585899ENST000004775351812_1865.0413.0MotifNuclear localization signal


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
IRF5


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-IRF5


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

Top

Related Diseases to KMT2C-IRF5


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