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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:ELL-KMT2A

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ELL-KMT2A
FusionPDB ID: 26225
FusionGDB2.0 ID: 26225
HgeneTgene
Gene symbol

ELL

KMT2A

Gene ID

8178

4297

Gene nameelongation factor for RNA polymerase IIlysine methyltransferase 2A
SynonymsC19orf17|ELL1|MEN|PPP1R68ALL-1|CXXC7|HRX|HTRX1|MLL|MLL1|MLL1A|TRX1|WDSTS
Cytomap

19p13.11

11q23.3

Type of geneprotein-codingprotein-coding
DescriptionRNA polymerase II elongation factor ELLELL gene (11-19 lysine-rich leukemia gene)ELL/KMT2A fusionELL/KMT2A fusion proteinKMT2A/ELL fusionKMT2A/ELL fusion proteineleven-nineteen lysine-rich leukemia proteinelongation factor RNA polymerase IIproteinhistone-lysine N-methyltransferase 2ACXXC-type zinc finger protein 7lysine (K)-specific methyltransferase 2Alysine N-methyltransferase 2Amixed lineage leukemia 1myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)trithorax-like
Modification date2020031920200319
UniProtAcc

O00472

Q03164

Ensembl transtripts involved in fusion geneENST idsENST00000262809, ENST00000596124, 
ENST00000420751, ENST00000354520, 
ENST00000389506, ENST00000534358, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score15 X 12 X 11=198031 X 72 X 3=6696
# samples 2179
** MAII scorelog2(21/1980*10)=-3.23703919730085
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(79/6696*10)=-3.08337496948588
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: ELL [Title/Abstract] AND KMT2A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)KMT2A(118355030)-ELL(18583699), # samples:4
ELL(18617518)-KMT2A(118358209), # samples:1
ELL(18632731)-KMT2A(118359327), # samples:1
Anticipated loss of major functional domain due to fusion event.ELL-KMT2A 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.
ELL-KMT2A 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.
ELL-KMT2A 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.
ELL-KMT2A 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.
KMT2A-ELL 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.
KMT2A-ELL 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
HgeneELL

GO:0010923

negative regulation of phosphatase activity

19389623

TgeneKMT2A

GO:0044648

histone H3-K4 dimethylation

25561738

TgeneKMT2A

GO:0045944

positive regulation of transcription by RNA polymerase II

20861184

TgeneKMT2A

GO:0051568

histone H3-K4 methylation

19556245

TgeneKMT2A

GO:0065003

protein-containing complex assembly

15199122

TgeneKMT2A

GO:0080182

histone H3-K4 trimethylation

20861184

TgeneKMT2A

GO:0097692

histone H3-K4 monomethylation

25561738|26324722


check buttonFusion gene breakpoints across ELL (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 KMT2A (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
ChiTaRS5.0N/ADQ437653ELLchr19

18617518

-KMT2Achr11

118358209

+
ChiTaRS5.0N/ADQ437655ELLchr19

18632731

-KMT2Achr11

118359327

+


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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)
ENST00000262809ELLchr1918632731-ENST00000534358KMT2Achr11118359327+124462077277932573
ENST00000262809ELLchr1918632731-ENST00000389506KMT2Achr11118359327+95302077277842570
ENST00000262809ELLchr1918632731-ENST00000354520KMT2Achr11118359327+103092077277842570

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
ENST00000262809ENST00000534358ELLchr1918632731-KMT2Achr11118359327+0.0002443740.9997557
ENST00000262809ENST00000389506ELLchr1918632731-KMT2Achr11118359327+0.0004206760.99957937
ENST00000262809ENST00000354520ELLchr1918632731-KMT2Achr11118359327+0.0004625710.99953747

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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

>26225_26225_1_ELL-KMT2A_ELL_chr19_18632731_ENST00000262809_KMT2A_chr11_118359327_ENST00000354520_length(amino acids)=2570AA_BP=45
MAALKEDRSYGLSCGRVSDGSKVSVFHVKLTDSALRAFESYRARQFVYCQVCCEPFHKFCLEENERPLEDQLENWCCRRCKFCHVCGRQH
QATKQLLECNKCRNSYHPECLGPNYPTKPTKKKKVWICTKCVRCKSCGSTTPGKGWDAQWSHDFSLCHDCAKLFAKGNFCPLCDKCYDDD
DYESKMMQCGKCDRWVHSKCENLSDEMYEILSNLPESVAYTCVNCTERHPAEWRLALEKELQISLKQVLTALLNSRTTSHLLRYRQAAKP
PDLNPETEESIPSRSSPEGPDPPVLTEVSKQDDQQPLDLEGVKRKMDQGNYTSVLEFSDDIVKIIQAAINSDGGQPEIKKANSMVKSFFI
RQMERVFPWFSVKKSRFWEPNKVSSNSGMLPNAVLPPSLDHNYAQWQEREENSHTEQPPLMKKIIPAPKPKGPGEPDSPTPLHPPTPPIL
STDRSREDSPELNPPPGIEDNRQCALCLTYGDDSANDAGRLLYIGQNEWTHVNCALWSAEVFEDDDGSLKNVHMAVIRGKQLRCEFCQKP
GATVGCCLTSCTSNYHFMCSRAKNCVFLDDKKVYCQRHRDLIKGEVVPENGFEVFRRVFVDFEGISLRRKFLNGLEPENIHMMIGSMTID
CLGILNDLSDCEDKLFPIGYQCSRVYWSTTDARKRCVYTCKIVECRPPVVEPDINSTVEHDENRTIAHSPTSFTESSSKESQNTAEIISP
PSPDRPPHSQTSGSCYYHVISKVPRIRTPSYSPTQRSPGCRPLPSAGSPTPTTHEIVTVGDPLLSSGLRSIGSRRHSTSSLSPQRSKLRI
MSPMRTGNTYSRNNVSSVSTTGTATDLESSAKVVDHVLGPLNSSTSLGQNTSTSSNLQRTVVTVGNKNSHLDGSSSSEMKQSSASDLVSK
SSSLKGEKTKVLSSKSSEGSAHNVAYPGIPKLAPQVHNTTSRELNVSKIGSFAEPSSVSFSSKEALSFPHLHLRGQRNDRDQHTDSTQSA
NSSPDEDTEVKTLKLSGMSNRSSIINEHMGSSSRDRRQKGKKSCKETFKEKHSSKSFLEPGQVTTGEEGNLKPEFMDEVLTPEYMGQRPC
NNVSSDKIGDKGLSMPGVPKAPPMQVEGSAKELQAPRKRTVKVTLTPLKMENESQSKNALKESSPASPLQIESTSPTEPISASENPGDGP
VAQPSPNNTSCQDSQSNNYQNLPVQDRNLMLPDGPKPQEDGSFKRRYPRRSARARSNMFFGLTPLYGVRSYGEEDIPFYSSSTGKKRGKR
SAEGQVDGADDLSTSDEDDLYYYNFTRTVISSGGEERLASHNLFREEEQCDLPKISQLDGVDDGTESDTSVTATTRKSSQIPKRNGKENG
TENLKIDRPEDAGEKEHVTKSSVGHKNEPKMDNCHSVSRVKTQGQDSLEAQLSSLESSRRVHTSTPSDKNLLDTYNTELLKSDSDNNNSD
DCGNILPSDIMDFVLKNTPSMQALGESPESSSSELLNLGEGLGLDSNREKDMGLFEVFSQQLPTTEPVDSSVSSSISAEEQFELPLELPS
DLSVLTTRSPTVPSQNPSRLAVISDSGEKRVTITEKSVASSESDPALLSPGVDPTPEGHMTPDHFIQGHMDADHISSPPCGSVEQGHGNN
QDLTRNSSTPGLQVPVSPTVPIQNQKYVPNSTDSPGPSQISNAAVQTTPPHLKPATEKLIVVNQNMQPLYVLQTLPNGVTQKIQLTSSVS
STPSVMETNTSVLGPMGGGLTLTTGLNPSLPTSQSLFPSASKGLLPMSHHQHLHSFPAATQSSFPPNISNPPSGLLIGVQPPPDPQLLVS
ESSQRTDLSTTVATPSSGLKKRPISRLQTRKNKKLAPSSTPSNIAPSDVVSNMTLINFTPSQLPNHPSLLDLGSLNTSSHRTVPNIIKRS
KSSIMYFEPAPLLPQSVGGTAATAAGTSTISQDTSHLTSGSVSGLASSSSVLNVVSMQTTTTPTSSASVPGHVTLTNPRLLGTPDIGSIS
NLLIKASQQSLGIQDQPVALPPSSGMFPQLGTSQTPSTAAITAASSICVLPSTQTTGITAASPSGEADEHYQLQHVNQLLASKTGIHSSQ
RDLDSASGPQVSNFTQTVDAPNSMGLEQNKALSSAVQASPTSPGGSPSSPSSGQRSASPSVPGPTKPKPKTKRFQLPLDKGNGKKHKVSH
LRTSSSEAHIPDQETTSLTSGTGTPGAEAEQQDTASVEQSSQKECGQPAGQVAVLPEVQVTQNPANEQESAEPKTVEEEESNFSSPLMLW
LQQEQKRKESITEKKPKKGLVFEISSDDGFQICAESIEDAWKSLTDKVQEARSNARLKQLSFAGVNGLRMLGILHDAVVFLIEQLSGAKH
CRNYKFRFHKPEEANEPPLNPHGSARAEVHLRKSAFDMFNFLASKHRQPPEYNPNDEEEEEVQLKSARRATSMDLPMPMRFRHLKKTSKE
AVGVYRSPIHGRGLFCKRNIDAGEMVIEYAGNVIRSIQTDKREKYYDSKGIGCYMFRIDDSEVVDATMHGNAARFINHSCEPNCYSRVIN

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

>26225_26225_2_ELL-KMT2A_ELL_chr19_18632731_ENST00000262809_KMT2A_chr11_118359327_ENST00000389506_length(amino acids)=2570AA_BP=45
MAALKEDRSYGLSCGRVSDGSKVSVFHVKLTDSALRAFESYRARQFVYCQVCCEPFHKFCLEENERPLEDQLENWCCRRCKFCHVCGRQH
QATKQLLECNKCRNSYHPECLGPNYPTKPTKKKKVWICTKCVRCKSCGSTTPGKGWDAQWSHDFSLCHDCAKLFAKGNFCPLCDKCYDDD
DYESKMMQCGKCDRWVHSKCENLSDEMYEILSNLPESVAYTCVNCTERHPAEWRLALEKELQISLKQVLTALLNSRTTSHLLRYRQAAKP
PDLNPETEESIPSRSSPEGPDPPVLTEVSKQDDQQPLDLEGVKRKMDQGNYTSVLEFSDDIVKIIQAAINSDGGQPEIKKANSMVKSFFI
RQMERVFPWFSVKKSRFWEPNKVSSNSGMLPNAVLPPSLDHNYAQWQEREENSHTEQPPLMKKIIPAPKPKGPGEPDSPTPLHPPTPPIL
STDRSREDSPELNPPPGIEDNRQCALCLTYGDDSANDAGRLLYIGQNEWTHVNCALWSAEVFEDDDGSLKNVHMAVIRGKQLRCEFCQKP
GATVGCCLTSCTSNYHFMCSRAKNCVFLDDKKVYCQRHRDLIKGEVVPENGFEVFRRVFVDFEGISLRRKFLNGLEPENIHMMIGSMTID
CLGILNDLSDCEDKLFPIGYQCSRVYWSTTDARKRCVYTCKIVECRPPVVEPDINSTVEHDENRTIAHSPTSFTESSSKESQNTAEIISP
PSPDRPPHSQTSGSCYYHVISKVPRIRTPSYSPTQRSPGCRPLPSAGSPTPTTHEIVTVGDPLLSSGLRSIGSRRHSTSSLSPQRSKLRI
MSPMRTGNTYSRNNVSSVSTTGTATDLESSAKVVDHVLGPLNSSTSLGQNTSTSSNLQRTVVTVGNKNSHLDGSSSSEMKQSSASDLVSK
SSSLKGEKTKVLSSKSSEGSAHNVAYPGIPKLAPQVHNTTSRELNVSKIGSFAEPSSVSFSSKEALSFPHLHLRGQRNDRDQHTDSTQSA
NSSPDEDTEVKTLKLSGMSNRSSIINEHMGSSSRDRRQKGKKSCKETFKEKHSSKSFLEPGQVTTGEEGNLKPEFMDEVLTPEYMGQRPC
NNVSSDKIGDKGLSMPGVPKAPPMQVEGSAKELQAPRKRTVKVTLTPLKMENESQSKNALKESSPASPLQIESTSPTEPISASENPGDGP
VAQPSPNNTSCQDSQSNNYQNLPVQDRNLMLPDGPKPQEDGSFKRRYPRRSARARSNMFFGLTPLYGVRSYGEEDIPFYSSSTGKKRGKR
SAEGQVDGADDLSTSDEDDLYYYNFTRTVISSGGEERLASHNLFREEEQCDLPKISQLDGVDDGTESDTSVTATTRKSSQIPKRNGKENG
TENLKIDRPEDAGEKEHVTKSSVGHKNEPKMDNCHSVSRVKTQGQDSLEAQLSSLESSRRVHTSTPSDKNLLDTYNTELLKSDSDNNNSD
DCGNILPSDIMDFVLKNTPSMQALGESPESSSSELLNLGEGLGLDSNREKDMGLFEVFSQQLPTTEPVDSSVSSSISAEEQFELPLELPS
DLSVLTTRSPTVPSQNPSRLAVISDSGEKRVTITEKSVASSESDPALLSPGVDPTPEGHMTPDHFIQGHMDADHISSPPCGSVEQGHGNN
QDLTRNSSTPGLQVPVSPTVPIQNQKYVPNSTDSPGPSQISNAAVQTTPPHLKPATEKLIVVNQNMQPLYVLQTLPNGVTQKIQLTSSVS
STPSVMETNTSVLGPMGGGLTLTTGLNPSLPTSQSLFPSASKGLLPMSHHQHLHSFPAATQSSFPPNISNPPSGLLIGVQPPPDPQLLVS
ESSQRTDLSTTVATPSSGLKKRPISRLQTRKNKKLAPSSTPSNIAPSDVVSNMTLINFTPSQLPNHPSLLDLGSLNTSSHRTVPNIIKRS
KSSIMYFEPAPLLPQSVGGTAATAAGTSTISQDTSHLTSGSVSGLASSSSVLNVVSMQTTTTPTSSASVPGHVTLTNPRLLGTPDIGSIS
NLLIKASQQSLGIQDQPVALPPSSGMFPQLGTSQTPSTAAITAASSICVLPSTQTTGITAASPSGEADEHYQLQHVNQLLASKTGIHSSQ
RDLDSASGPQVSNFTQTVDAPNSMGLEQNKALSSAVQASPTSPGGSPSSPSSGQRSASPSVPGPTKPKPKTKRFQLPLDKGNGKKHKVSH
LRTSSSEAHIPDQETTSLTSGTGTPGAEAEQQDTASVEQSSQKECGQPAGQVAVLPEVQVTQNPANEQESAEPKTVEEEESNFSSPLMLW
LQQEQKRKESITEKKPKKGLVFEISSDDGFQICAESIEDAWKSLTDKVQEARSNARLKQLSFAGVNGLRMLGILHDAVVFLIEQLSGAKH
CRNYKFRFHKPEEANEPPLNPHGSARAEVHLRKSAFDMFNFLASKHRQPPEYNPNDEEEEEVQLKSARRATSMDLPMPMRFRHLKKTSKE
AVGVYRSPIHGRGLFCKRNIDAGEMVIEYAGNVIRSIQTDKREKYYDSKGIGCYMFRIDDSEVVDATMHGNAARFINHSCEPNCYSRVIN

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

>26225_26225_3_ELL-KMT2A_ELL_chr19_18632731_ENST00000262809_KMT2A_chr11_118359327_ENST00000534358_length(amino acids)=2573AA_BP=45
MAALKEDRSYGLSCGRVSDGSKVSVFHVKLTDSALRAFESYRARQFVYCQVCCEPFHKFCLEENERPLEDQLENWCCRRCKFCHVCGRQH
QATKQLLECNKCRNSYHPECLGPNYPTKPTKKKKVWICTKCVRCKSCGSTTPGKGWDAQWSHDFSLCHDCAKLFAKGNFCPLCDKCYDDD
DYESKMMQCGKCDRWVHSKCENLSGTEDEMYEILSNLPESVAYTCVNCTERHPAEWRLALEKELQISLKQVLTALLNSRTTSHLLRYRQA
AKPPDLNPETEESIPSRSSPEGPDPPVLTEVSKQDDQQPLDLEGVKRKMDQGNYTSVLEFSDDIVKIIQAAINSDGGQPEIKKANSMVKS
FFIRQMERVFPWFSVKKSRFWEPNKVSSNSGMLPNAVLPPSLDHNYAQWQEREENSHTEQPPLMKKIIPAPKPKGPGEPDSPTPLHPPTP
PILSTDRSREDSPELNPPPGIEDNRQCALCLTYGDDSANDAGRLLYIGQNEWTHVNCALWSAEVFEDDDGSLKNVHMAVIRGKQLRCEFC
QKPGATVGCCLTSCTSNYHFMCSRAKNCVFLDDKKVYCQRHRDLIKGEVVPENGFEVFRRVFVDFEGISLRRKFLNGLEPENIHMMIGSM
TIDCLGILNDLSDCEDKLFPIGYQCSRVYWSTTDARKRCVYTCKIVECRPPVVEPDINSTVEHDENRTIAHSPTSFTESSSKESQNTAEI
ISPPSPDRPPHSQTSGSCYYHVISKVPRIRTPSYSPTQRSPGCRPLPSAGSPTPTTHEIVTVGDPLLSSGLRSIGSRRHSTSSLSPQRSK
LRIMSPMRTGNTYSRNNVSSVSTTGTATDLESSAKVVDHVLGPLNSSTSLGQNTSTSSNLQRTVVTVGNKNSHLDGSSSSEMKQSSASDL
VSKSSSLKGEKTKVLSSKSSEGSAHNVAYPGIPKLAPQVHNTTSRELNVSKIGSFAEPSSVSFSSKEALSFPHLHLRGQRNDRDQHTDST
QSANSSPDEDTEVKTLKLSGMSNRSSIINEHMGSSSRDRRQKGKKSCKETFKEKHSSKSFLEPGQVTTGEEGNLKPEFMDEVLTPEYMGQ
RPCNNVSSDKIGDKGLSMPGVPKAPPMQVEGSAKELQAPRKRTVKVTLTPLKMENESQSKNALKESSPASPLQIESTSPTEPISASENPG
DGPVAQPSPNNTSCQDSQSNNYQNLPVQDRNLMLPDGPKPQEDGSFKRRYPRRSARARSNMFFGLTPLYGVRSYGEEDIPFYSSSTGKKR
GKRSAEGQVDGADDLSTSDEDDLYYYNFTRTVISSGGEERLASHNLFREEEQCDLPKISQLDGVDDGTESDTSVTATTRKSSQIPKRNGK
ENGTENLKIDRPEDAGEKEHVTKSSVGHKNEPKMDNCHSVSRVKTQGQDSLEAQLSSLESSRRVHTSTPSDKNLLDTYNTELLKSDSDNN
NSDDCGNILPSDIMDFVLKNTPSMQALGESPESSSSELLNLGEGLGLDSNREKDMGLFEVFSQQLPTTEPVDSSVSSSISAEEQFELPLE
LPSDLSVLTTRSPTVPSQNPSRLAVISDSGEKRVTITEKSVASSESDPALLSPGVDPTPEGHMTPDHFIQGHMDADHISSPPCGSVEQGH
GNNQDLTRNSSTPGLQVPVSPTVPIQNQKYVPNSTDSPGPSQISNAAVQTTPPHLKPATEKLIVVNQNMQPLYVLQTLPNGVTQKIQLTS
SVSSTPSVMETNTSVLGPMGGGLTLTTGLNPSLPTSQSLFPSASKGLLPMSHHQHLHSFPAATQSSFPPNISNPPSGLLIGVQPPPDPQL
LVSESSQRTDLSTTVATPSSGLKKRPISRLQTRKNKKLAPSSTPSNIAPSDVVSNMTLINFTPSQLPNHPSLLDLGSLNTSSHRTVPNII
KRSKSSIMYFEPAPLLPQSVGGTAATAAGTSTISQDTSHLTSGSVSGLASSSSVLNVVSMQTTTTPTSSASVPGHVTLTNPRLLGTPDIG
SISNLLIKASQQSLGIQDQPVALPPSSGMFPQLGTSQTPSTAAITAASSICVLPSTQTTGITAASPSGEADEHYQLQHVNQLLASKTGIH
SSQRDLDSASGPQVSNFTQTVDAPNSMGLEQNKALSSAVQASPTSPGGSPSSPSSGQRSASPSVPGPTKPKPKTKRFQLPLDKGNGKKHK
VSHLRTSSSEAHIPDQETTSLTSGTGTPGAEAEQQDTASVEQSSQKECGQPAGQVAVLPEVQVTQNPANEQESAEPKTVEEEESNFSSPL
MLWLQQEQKRKESITEKKPKKGLVFEISSDDGFQICAESIEDAWKSLTDKVQEARSNARLKQLSFAGVNGLRMLGILHDAVVFLIEQLSG
AKHCRNYKFRFHKPEEANEPPLNPHGSARAEVHLRKSAFDMFNFLASKHRQPPEYNPNDEEEEEVQLKSARRATSMDLPMPMRFRHLKKT
SKEAVGVYRSPIHGRGLFCKRNIDAGEMVIEYAGNVIRSIQTDKREKYYDSKGIGCYMFRIDDSEVVDATMHGNAARFINHSCEPNCYSR

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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/chr19:118355030/chr11:18583699)
- 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
ELL

O00472

KMT2A

Q03164

FUNCTION: Elongation factor component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. Component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III (PubMed:22195968). Plays a role in immunoglobulin secretion in plasma cells: directs efficient alternative mRNA processing, influencing both proximal poly(A) site choice and exon skipping, as well as immunoglobulin heavy chain (IgH) alternative processing. Probably acts by regulating histone modifications accompanying transition from membrane-specific to secretory IgH mRNA expression. {ECO:0000269|PubMed:20159561, ECO:0000269|PubMed:20471948, ECO:0000269|PubMed:22195968, ECO:0000269|PubMed:23251033}.FUNCTION: Histone methyltransferase that plays an essential role in early development and hematopoiesis (PubMed:15960975, PubMed:12453419, PubMed:15960975, PubMed:19556245, PubMed:19187761, PubMed:20677832, PubMed:21220120, PubMed:26886794). Catalytic subunit of the MLL1/MLL complex, a multiprotein complex that mediates both methylation of 'Lys-4' of histone H3 (H3K4me) complex and acetylation of 'Lys-16' of histone H4 (H4K16ac) (PubMed:15960975, PubMed:12453419, PubMed:15960975, PubMed:19556245, PubMed:24235145, PubMed:19187761, PubMed:20677832, PubMed:21220120, PubMed:26886794). Catalyzes methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4) via a non-processive mechanism. Part of chromatin remodeling machinery predominantly forms H3K4me1 and H3K4me2 methylation marks at active chromatin sites where transcription and DNA repair take place (PubMed:25561738, PubMed:15960975, PubMed:12453419, PubMed:15960975, PubMed:19556245, PubMed:19187761, PubMed:20677832, PubMed:21220120, PubMed:26886794). Has weak methyltransferase activity by itself, and requires other component of the MLL1/MLL complex to obtain full methyltransferase activity (PubMed:19187761, PubMed:26886794). Has no activity toward histone H3 phosphorylated on 'Thr-3', less activity toward H3 dimethylated on 'Arg-8' or 'Lys-9', while it has higher activity toward H3 acetylated on 'Lys-9' (PubMed:19187761). Binds to unmethylated CpG elements in the promoter of target genes and helps maintain them in the nonmethylated state (PubMed:20010842). Required for transcriptional activation of HOXA9 (PubMed:12453419, PubMed:20677832, PubMed:20010842). Promotes PPP1R15A-induced apoptosis (PubMed:10490642). Plays a critical role in the control of circadian gene expression and is essential for the transcriptional activation mediated by the CLOCK-ARNTL/BMAL1 heterodimer (By similarity). Establishes a permissive chromatin state for circadian transcription by mediating a rhythmic methylation of 'Lys-4' of histone H3 (H3K4me) and this histone modification directs the circadian acetylation at H3K9 and H3K14 allowing the recruitment of CLOCK-ARNTL/BMAL1 to chromatin (By similarity). Also has auto-methylation activity on Cys-3882 in absence of histone H3 substrate (PubMed:24235145). {ECO:0000250|UniProtKB:P55200, ECO:0000269|PubMed:10490642, ECO:0000269|PubMed:12453419, ECO:0000269|PubMed:15960975, ECO:0000269|PubMed:19187761, ECO:0000269|PubMed:19556245, ECO:0000269|PubMed:20010842, ECO:0000269|PubMed:21220120, ECO:0000269|PubMed:24235145, ECO:0000269|PubMed:26886794, ECO:0000305|PubMed:20677832}.

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
TgeneKMT2Achr19:18632731chr11:118359327ENST000003545208351703_17481406.03932.0DomainBromo%3B divergent
TgeneKMT2Achr19:18632731chr11:118359327ENST000003545208352018_20741406.03932.0DomainFYR N-terminal
TgeneKMT2Achr19:18632731chr11:118359327ENST000003545208353666_37471406.03932.0DomainFYR C-terminal
TgeneKMT2Achr19:18632731chr11:118359327ENST000003545208353829_39451406.03932.0DomainSET
TgeneKMT2Achr19:18632731chr11:118359327ENST000003545208353953_39691406.03932.0DomainPost-SET
TgeneKMT2Achr19:18632731chr11:118359327ENST000003895069361703_17481444.03970.0DomainBromo%3B divergent
TgeneKMT2Achr19:18632731chr11:118359327ENST000003895069362018_20741444.03970.0DomainFYR N-terminal
TgeneKMT2Achr19:18632731chr11:118359327ENST000003895069363666_37471444.03970.0DomainFYR C-terminal
TgeneKMT2Achr19:18632731chr11:118359327ENST000003895069363829_39451444.03970.0DomainSET
TgeneKMT2Achr19:18632731chr11:118359327ENST000003895069363953_39691444.03970.0DomainPost-SET
TgeneKMT2Achr19:18632731chr11:118359327ENST000005343589361703_17481444.03973.0DomainBromo%3B divergent
TgeneKMT2Achr19:18632731chr11:118359327ENST000005343589362018_20741444.03973.0DomainFYR N-terminal
TgeneKMT2Achr19:18632731chr11:118359327ENST000005343589363666_37471444.03973.0DomainFYR C-terminal
TgeneKMT2Achr19:18632731chr11:118359327ENST000005343589363829_39451444.03973.0DomainSET
TgeneKMT2Achr19:18632731chr11:118359327ENST000005343589363953_39691444.03973.0DomainPost-SET
TgeneKMT2Achr19:18632731chr11:118359327ENST000003545208353906_39071406.03932.0RegionS-adenosyl-L-methionine binding
TgeneKMT2Achr19:18632731chr11:118359327ENST000003895069363906_39071444.03970.0RegionS-adenosyl-L-methionine binding
TgeneKMT2Achr19:18632731chr11:118359327ENST000005343589363906_39071444.03973.0RegionS-adenosyl-L-methionine binding
TgeneKMT2Achr19:18632731chr11:118359327ENST000003545208351431_14821406.03932.0Zinc fingerPHD-type 1
TgeneKMT2Achr19:18632731chr11:118359327ENST000003545208351479_15331406.03932.0Zinc fingerPHD-type 2
TgeneKMT2Achr19:18632731chr11:118359327ENST000003545208351566_16271406.03932.0Zinc fingerPHD-type 3
TgeneKMT2Achr19:18632731chr11:118359327ENST000003545208351870_19101406.03932.0Zinc fingerC2HC pre-PHD-type
TgeneKMT2Achr19:18632731chr11:118359327ENST000003545208351931_19781406.03932.0Zinc fingerPHD-type 4
TgeneKMT2Achr19:18632731chr11:118359327ENST000003895069361479_15331444.03970.0Zinc fingerPHD-type 2
TgeneKMT2Achr19:18632731chr11:118359327ENST000003895069361566_16271444.03970.0Zinc fingerPHD-type 3
TgeneKMT2Achr19:18632731chr11:118359327ENST000003895069361870_19101444.03970.0Zinc fingerC2HC pre-PHD-type
TgeneKMT2Achr19:18632731chr11:118359327ENST000003895069361931_19781444.03970.0Zinc fingerPHD-type 4
TgeneKMT2Achr19:18632731chr11:118359327ENST000005343589361479_15331444.03973.0Zinc fingerPHD-type 2
TgeneKMT2Achr19:18632731chr11:118359327ENST000005343589361566_16271444.03973.0Zinc fingerPHD-type 3
TgeneKMT2Achr19:18632731chr11:118359327ENST000005343589361870_19101444.03973.0Zinc fingerC2HC pre-PHD-type
TgeneKMT2Achr19:18632731chr11:118359327ENST000005343589361931_19781444.03973.0Zinc fingerPHD-type 4

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneELLchr19:18632731chr11:118359327ENST00000262809-112445_45945.0622.0MotifNuclear localization signal
TgeneKMT2Achr19:18632731chr11:118359327ENST00000354520835137_1431406.03932.0Compositional biasNote=Poly-Gly
TgeneKMT2Achr19:18632731chr11:118359327ENST0000035452083517_1021406.03932.0Compositional biasNote=Ala/Gly/Ser-rich
TgeneKMT2Achr19:18632731chr11:118359327ENST00000354520835561_5641406.03932.0Compositional biasNote=Poly-Pro
TgeneKMT2Achr19:18632731chr11:118359327ENST00000354520835568_5711406.03932.0Compositional biasNote=Poly-Pro
TgeneKMT2Achr19:18632731chr11:118359327ENST00000389506936137_1431444.03970.0Compositional biasNote=Poly-Gly
TgeneKMT2Achr19:18632731chr11:118359327ENST0000038950693617_1021444.03970.0Compositional biasNote=Ala/Gly/Ser-rich
TgeneKMT2Achr19:18632731chr11:118359327ENST00000389506936561_5641444.03970.0Compositional biasNote=Poly-Pro
TgeneKMT2Achr19:18632731chr11:118359327ENST00000389506936568_5711444.03970.0Compositional biasNote=Poly-Pro
TgeneKMT2Achr19:18632731chr11:118359327ENST00000534358936137_1431444.03973.0Compositional biasNote=Poly-Gly
TgeneKMT2Achr19:18632731chr11:118359327ENST0000053435893617_1021444.03973.0Compositional biasNote=Ala/Gly/Ser-rich
TgeneKMT2Achr19:18632731chr11:118359327ENST00000534358936561_5641444.03973.0Compositional biasNote=Poly-Pro
TgeneKMT2Achr19:18632731chr11:118359327ENST00000534358936568_5711444.03973.0Compositional biasNote=Poly-Pro
TgeneKMT2Achr19:18632731chr11:118359327ENST00000354520835169_1801406.03932.0DNA bindingNote=A.T hook 1
TgeneKMT2Achr19:18632731chr11:118359327ENST00000354520835217_2271406.03932.0DNA bindingNote=A.T hook 2
TgeneKMT2Achr19:18632731chr11:118359327ENST00000354520835301_3091406.03932.0DNA bindingNote=A.T hook 3
TgeneKMT2Achr19:18632731chr11:118359327ENST00000389506936169_1801444.03970.0DNA bindingNote=A.T hook 1
TgeneKMT2Achr19:18632731chr11:118359327ENST00000389506936217_2271444.03970.0DNA bindingNote=A.T hook 2
TgeneKMT2Achr19:18632731chr11:118359327ENST00000389506936301_3091444.03970.0DNA bindingNote=A.T hook 3
TgeneKMT2Achr19:18632731chr11:118359327ENST00000534358936169_1801444.03973.0DNA bindingNote=A.T hook 1
TgeneKMT2Achr19:18632731chr11:118359327ENST00000534358936217_2271444.03973.0DNA bindingNote=A.T hook 2
TgeneKMT2Achr19:18632731chr11:118359327ENST00000534358936301_3091444.03973.0DNA bindingNote=A.T hook 3
TgeneKMT2Achr19:18632731chr11:118359327ENST00000354520835123_1341406.03932.0MotifIntegrase domain-binding motif 1 (IBM1)
TgeneKMT2Achr19:18632731chr11:118359327ENST00000354520835147_1521406.03932.0MotifIntegrase domain-binding motif 2 (IBM2)
TgeneKMT2Achr19:18632731chr11:118359327ENST000003545208356_251406.03932.0MotifMenin-binding motif (MBM)
TgeneKMT2Achr19:18632731chr11:118359327ENST00000389506936123_1341444.03970.0MotifIntegrase domain-binding motif 1 (IBM1)
TgeneKMT2Achr19:18632731chr11:118359327ENST00000389506936147_1521444.03970.0MotifIntegrase domain-binding motif 2 (IBM2)
TgeneKMT2Achr19:18632731chr11:118359327ENST000003895069366_251444.03970.0MotifMenin-binding motif (MBM)
TgeneKMT2Achr19:18632731chr11:118359327ENST00000534358936123_1341444.03973.0MotifIntegrase domain-binding motif 1 (IBM1)
TgeneKMT2Achr19:18632731chr11:118359327ENST00000534358936147_1521444.03973.0MotifIntegrase domain-binding motif 2 (IBM2)
TgeneKMT2Achr19:18632731chr11:118359327ENST000005343589366_251444.03973.0MotifMenin-binding motif (MBM)
TgeneKMT2Achr19:18632731chr11:118359327ENST000003545208351147_11951406.03932.0Zinc fingerCXXC-type
TgeneKMT2Achr19:18632731chr11:118359327ENST000003895069361147_11951444.03970.0Zinc fingerCXXC-type
TgeneKMT2Achr19:18632731chr11:118359327ENST000003895069361431_14821444.03970.0Zinc fingerPHD-type 1
TgeneKMT2Achr19:18632731chr11:118359327ENST000005343589361147_11951444.03973.0Zinc fingerCXXC-type
TgeneKMT2Achr19:18632731chr11:118359327ENST000005343589361431_14821444.03973.0Zinc fingerPHD-type 1


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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
KMT2APPIE, PPP1R15A, KMT2A, ASH2L, HCFC1, HCFC2, MEN1, RBBP5, WDR5, AVP, INS, OXT, MAP3K5, HDAC1, CTBP1, CBX4, BMI1, CREBBP, SMARCB1, CXXC1, MYB, CTNNB1, SNW1, E2F2, E2F4, E2F6, PSIP1, MLLT4, POLR2A, KAT8, RNF2, TP53, tat, SBF1, MTM1, SET, HIST1H3A, HIST1H4A, KAT6A, ELL, AFF1, AFF4, CDK9, CCNT1, CTR9, LEO1, PAF1, CDC73, WDR61, MLLT3, DOT1L, SKP2, HIST3H3, SVIL, HIST2H3C, SIN3A, MLLT1, RUNX1, CBFB, H3F3A, SIRT7, ASB2, TCEB1, TCEB2, CBX8, TOP1, TAF6, NCL, HECW2, LGR4, CSNK2A2, SENP3, SYMPK, PKN1, PIH1D1, KRAS, TAF1, CHD3, SMARCA2, SMARCC2, SMARCC1, HDAC2, RBBP4, RBBP7, TBP, MBD3, SAP30, RAN, TAF9, TASP1, HIST1H2BG, EWSR1, DYNLT1, KIF11, ING4, Cbx1, Set, ZNF131, ASB7, AR, CSNK2A1, OGT, BRD4, KDM5B, KDM5D, KDM6B, CKS1B, CKS2, CHD4, ESR2, AGR2, EZH2, FBXW7, SOX2, MED17, WDR82, ACTR8, GEMIN5, RUVBL1, MCM2, RTF1, MED15, MED8, MRGBP, MED14, HIST1H2BB, HIST1H2AB, KIAA1429, SP1, MYC, NR2C2, IRF2, PLEKHA4, DPY30, PTEN, NPM1, RPL13, CCT6A, TMCO1, ITGB1, ESR1, MYCN, SUPT5H, CIT, Pik3r2, FASN, LDLR, CDC27, KMT2B, SETD1A, KDM6A, KANSL2, BUB3, SETD1B, KANSL1, RERE, MCRS1, KMT2C, ZZZ3, MBIP, YEATS2, PAXIP1, KANSL3, KMT2D, BOD1L1, CSRP2BP, ZNF608, ATN1, PHF20L1, PHF20, NCOA6, TADA3, APEX1, ASF1A, CBX3, CD3EAP, CENPA, NUP50, POLR1E, TERF2IP, ZNF330, NAA40, PRKRA, SRSF4, KRR1, RPL13A, ABT1, CSNK2B, OASL, SRSF5, SRSF6, RPS9, FGFBP1, RPLP0, RPL36, KAL1, RPL3, PML, ELF1, ELF2, FEV, NHLH1, EN1, KLF12, KLF3, NFIX, NFYC, YY1, BRD3,


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
ELLall structure
KMT2Aall structure


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 ELL-KMT2A


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 ELL-KMT2A


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
TgeneKMT2AC2826025Mixed phenotype acute leukemia3ORPHANET
TgeneKMT2AC0023418leukemia2CTD_human
TgeneKMT2AC0023452Childhood Acute Lymphoblastic Leukemia2CTD_human
TgeneKMT2AC0023453L2 Acute Lymphoblastic Leukemia2CTD_human
TgeneKMT2AC0023466Leukemia, Monocytic, Chronic2CTD_human
TgeneKMT2AC0023467Leukemia, Myelocytic, Acute2CTD_human
TgeneKMT2AC0023470Myeloid Leukemia2CTD_human
TgeneKMT2AC0026998Acute Myeloid Leukemia, M12CTD_human
TgeneKMT2AC1854630Growth Deficiency and Mental Retardation with Facial Dysmorphism2CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneKMT2AC1879321Acute Myeloid Leukemia (AML-M2)2CTD_human
TgeneKMT2AC1961102Precursor Cell Lymphoblastic Leukemia Lymphoma2CTD_human
TgeneKMT2AC0001418Adenocarcinoma1CTD_human
TgeneKMT2AC0004403Autosome Abnormalities1CTD_human
TgeneKMT2AC0005684Malignant neoplasm of urinary bladder1CTD_human
TgeneKMT2AC0005695Bladder Neoplasm1CTD_human
TgeneKMT2AC0007138Carcinoma, Transitional Cell1CTD_human
TgeneKMT2AC0008625Chromosome Aberrations1CTD_human
TgeneKMT2AC0023448Lymphoid leukemia1CTD_human
TgeneKMT2AC0023465Acute monocytic leukemia1CTD_human
TgeneKMT2AC0023479Acute myelomonocytic leukemia1CTD_human
TgeneKMT2AC0024623Malignant neoplasm of stomach1CTD_human
TgeneKMT2AC0033578Prostatic Neoplasms1CTD_human
TgeneKMT2AC0036341Schizophrenia1PSYGENET
TgeneKMT2AC0038356Stomach Neoplasms1CTD_human
TgeneKMT2AC0149925Small cell carcinoma of lung1CTD_human
TgeneKMT2AC0205641Adenocarcinoma, Basal Cell1CTD_human
TgeneKMT2AC0205642Adenocarcinoma, Oxyphilic1CTD_human
TgeneKMT2AC0205643Carcinoma, Cribriform1CTD_human
TgeneKMT2AC0205644Carcinoma, Granular Cell1CTD_human
TgeneKMT2AC0205645Adenocarcinoma, Tubular1CTD_human
TgeneKMT2AC0270972Cornelia De Lange Syndrome1ORPHANET
TgeneKMT2AC0280141Acute Undifferentiated Leukemia1ORPHANET
TgeneKMT2AC0376358Malignant neoplasm of prostate1CTD_human
TgeneKMT2AC0856823Undifferentiated type acute leukemia1ORPHANET
TgeneKMT2AC1535926Neurodevelopmental Disorders1CTD_human
TgeneKMT2AC1708349Hereditary Diffuse Gastric Cancer1CTD_human
TgeneKMT2AC2239176Liver carcinoma1CTD_human
TgeneKMT2AC2930974Acute erythroleukemia1CTD_human
TgeneKMT2AC2930975Acute erythroleukemia - M6a subtype1CTD_human
TgeneKMT2AC2930976Acute myeloid leukemia FAB-M61CTD_human
TgeneKMT2AC2930977Acute erythroleukemia - M6b subtype1CTD_human