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Center for Computational Systems Medicine level3
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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 Structure

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pLDDT scores

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Ramachandran Plot of Fusion Protein Structure

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Potential Active Site Information

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Potentially Interacting Small Molecules through Virtual Screening

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Biochemical Features of Small Molecules with ADME

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Drug Toxicity Information

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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:KMT2A-CBL

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: KMT2A-CBL
FusionPDB ID: 43149
FusionGDB2.0 ID: 54230
HgeneTgene
Gene symbol

KMT2A

CBL

Gene ID

4297

867

Gene namelysine methyltransferase 2ACbl proto-oncogene
SynonymsALL-1|CXXC7|HRX|HTRX1|MLL|MLL1|MLL1A|TRX1|WDSTSC-CBL|CBL2|FRA11B|NSLL|RNF55
Cytomap

11q23.3

11q23.3

Type of geneprotein-codingprotein-coding
Descriptionhistone-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-likeE3 ubiquitin-protein ligase CBLCas-Br-M (murine) ecotropic retroviral transforming sequenceCbl proto-oncogene, E3 ubiquitin protein ligaseRING finger protein 55RING-type E3 ubiquitin transferase CBLcasitas B-lineage lymphoma proto-oncogenefragile si
Modification date2020031920200327
UniProtAcc

Q03164

Q8IUK8

Ensembl transtripts involved in fusion geneENST idsENST00000354520, ENST00000389506, 
ENST00000534358, ENST00000420751, 
ENST00000264033, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score79 X 196 X 13=20129211 X 14 X 7=1078
# samples 24112
** MAII scorelog2(241/201292*10)=-6.38411287931608
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(12/1078*10)=-3.16725086714399
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

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

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)KMT2A(118353213)-CBL(119155677), # samples:1
Anticipated loss of major functional domain due to fusion event.KMT2A-CBL 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-CBL 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-CBL 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-CBL 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-CBL seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
KMT2A-CBL seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
KMT2A-CBL seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
KMT2A-CBL seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
KMT2A-CBL seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF.
KMT2A-CBL seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
KMT2A-CBL seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor 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
HgeneKMT2A

GO:0044648

histone H3-K4 dimethylation

25561738

HgeneKMT2A

GO:0045944

positive regulation of transcription by RNA polymerase II

20861184

HgeneKMT2A

GO:0051568

histone H3-K4 methylation

19556245

HgeneKMT2A

GO:0065003

protein-containing complex assembly

15199122

HgeneKMT2A

GO:0080182

histone H3-K4 trimethylation

20861184

HgeneKMT2A

GO:0097692

histone H3-K4 monomethylation

25561738|26324722


check buttonFusion gene breakpoints across KMT2A (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 CBL (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
ChimerKB3..KMT2Achr11

118350953

+CBLchr11

119148875

+
ChimerKB3..KMT2Achr11

118353210

+CBLchr11

119155678

+
ChimerKB3..KMT2Achr11

118353210

CBLchr11

119155678

+
ChiTaRS5.0N/AAY125965KMT2Achr11

118353213

+CBLchr11

119155677

+


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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)
ENST00000534358KMT2Achr11118353210+ENST00000264033CBLchr11119155678+1376741092353981791
ENST00000389506KMT2Achr11118353210+ENST00000264033CBLchr11119155678+137444086053751791
ENST00000354520KMT2Achr11118353210+ENST00000264033CBLchr11119155678+137444086053751791
ENST00000534358KMT2Achr11118353213+ENST00000264033CBLchr11119155677+1376741092353981791
ENST00000389506KMT2Achr11118353213+ENST00000264033CBLchr11119155677+137444086053751791
ENST00000354520KMT2Achr11118353213+ENST00000264033CBLchr11119155677+137444086053751791

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
ENST00000534358ENST00000264033KMT2Achr11118353213+CBLchr11119155677+0.0002936240.9997063
ENST00000389506ENST00000264033KMT2Achr11118353213+CBLchr11119155677+0.000285490.99971443
ENST00000354520ENST00000264033KMT2Achr11118353213+CBLchr11119155677+0.000285490.99971443

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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

>43149_43149_1_KMT2A-CBL_KMT2A_chr11_118353210_ENST00000354520_CBL_chr11_119155678_ENST00000264033_length(amino acids)=1791AA_BP=7
MAHSCRWRFPARPGTTGGGGGGGRRGLGGAPRQRVPALLLPPGPPVGGGGPGAPPSPPAVAAAAAAAGSSGAGVPGGAAAASAASSSSAS
SSSSSSSSASSGPALLRVGPGFDAALQVSAAIGTNLRRFRAVFGESGGGGGSGEDEQFLGFGSDEEVRVRSPTRSPSVKTSPRKPRGRPR
SGSDRNSAILSDPSVFSPLNKSETKSGDKIKKKDSKSIEKKRGRPPTFPGVKIKITHGKDISELPKGNKEDSLKKIKRTPSATFQQATKI
KKLRAGKLSPLKSKFKTGKLQIGRKGVQIVRRRGRPPSTERIKTPSGLLINSELEKPQKVRKDKEGTPPLTKEDKTVVRQSPRRIKPVRI
IPSSKRTDATIAKQLLQRAKKGAQKKIEKEAAQLQGRKVKTQVKNIRQFIMPVVSAISSRIIKTPRRFIEDEDYDPPIKIARLESTPNSR
FSAPSCGSSEKSSAASQHSSQMSSDSSRSSSPSVDTSTDSQASEEIQVLPEERSDTPEVHPPLPISQSPENESNDRRSRRYSVSERSFGS
RTTKKLSTLQSAPQQQTSSSPPPPLLTPPPPLQPASSISDHTPWLMPPTIPLASPFLPASTAPMQGKRKSILREPTFRWTSLKHSRSEPQ
YFSSAKYAKEGLIRKPIFDNFRPPPLTPEDVGFASGFSASGTAASARLFSPLHSGTRFDMHKRSPLLRAPRFTPSEAHSRIFESVTLPSN
RTSAGTSSSGVSNRKRKRKVFSPIRSEPRSPSHSMRTRSGRLSSSELSPLTPPSSVSSSLSISVSPLATSALNPTFTFPSHSLTQSGESA
EKNQRPRKQTSAPAEPFSSSSPTPLFPWFTPGSQTERGRNKDKAPEELSKDRDADKSVEKDKSRERDREREKENKRESRKEKRKKGSEIQ
SSSALYPVGRVSKEKVVGEDVATSSSAKKATGRKKSSSHDSGTDITSVTLGDTTAVKTKILIKKGRGNLEKTNLDLGPTAPSLEKEKTLC
LSTPSSSTVKHSTSSIGSMLAQADKLPMTDKRVASLLKKAKAQLCKIEKSKSLKQTDQPKAQGQESDSSETSVRGPRIKHVCRRAAVALG
RKRAVFPDDMPTLSALPWEEREKILSSMGNDDKSSIAGSEDAEPLAPPIKPIKPVTRNKAPQEPPVKKGRRSRRCGQCPGCQVPEDCGVC
TNCLDKPKFGGRNIKKQCCKMRKCQNLQWMPSKAYLQKQAKAVKKKEKKSKTSEKKDSKESSVVKNVVDSSQKPTPSAREDPAPKKSSSE
PPPRKPVEEKSEEGNVSAPGPESKQATTPASRKSSKQVSQPALVIPPQPPTTGPPRKEVPKTTPSEPKKKQPPPPESGPEQSKQKKVAPR
PSIPVKQKPKEKVERPPSPFSMAPQASLPPVPPRLDLLPQRVCVPSSASALGTASKAASGSLHKDKPLPVPPTLRDLPPPPPPDRPYSVG
AESRPQRRPLPCTPGDCPSRDKLPPVPSSRLGDSWLPRPIPKVPVSAPSSSDPWTGRELTNRHSLPFSLPSQMEPRPDVPRLGSTFSLDT
SMSMNSSPLVGPECDHPKIKPSSSANAIYSLAARPLPVPKLPPGEQCEGEEDTEYMTPSSRPLRPLDTSQSSRACDCDQQIDSCTYEAMY
NIQSQAPSITESSTFGEGNLAAAHANTGPEESENEDDGYDVPKPPVPAVLARRTLSDISNASSSFGWLSLDGDPTTNVTEGSQVPERPPK

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

>43149_43149_2_KMT2A-CBL_KMT2A_chr11_118353210_ENST00000389506_CBL_chr11_119155678_ENST00000264033_length(amino acids)=1791AA_BP=7
MAHSCRWRFPARPGTTGGGGGGGRRGLGGAPRQRVPALLLPPGPPVGGGGPGAPPSPPAVAAAAAAAGSSGAGVPGGAAAASAASSSSAS
SSSSSSSSASSGPALLRVGPGFDAALQVSAAIGTNLRRFRAVFGESGGGGGSGEDEQFLGFGSDEEVRVRSPTRSPSVKTSPRKPRGRPR
SGSDRNSAILSDPSVFSPLNKSETKSGDKIKKKDSKSIEKKRGRPPTFPGVKIKITHGKDISELPKGNKEDSLKKIKRTPSATFQQATKI
KKLRAGKLSPLKSKFKTGKLQIGRKGVQIVRRRGRPPSTERIKTPSGLLINSELEKPQKVRKDKEGTPPLTKEDKTVVRQSPRRIKPVRI
IPSSKRTDATIAKQLLQRAKKGAQKKIEKEAAQLQGRKVKTQVKNIRQFIMPVVSAISSRIIKTPRRFIEDEDYDPPIKIARLESTPNSR
FSAPSCGSSEKSSAASQHSSQMSSDSSRSSSPSVDTSTDSQASEEIQVLPEERSDTPEVHPPLPISQSPENESNDRRSRRYSVSERSFGS
RTTKKLSTLQSAPQQQTSSSPPPPLLTPPPPLQPASSISDHTPWLMPPTIPLASPFLPASTAPMQGKRKSILREPTFRWTSLKHSRSEPQ
YFSSAKYAKEGLIRKPIFDNFRPPPLTPEDVGFASGFSASGTAASARLFSPLHSGTRFDMHKRSPLLRAPRFTPSEAHSRIFESVTLPSN
RTSAGTSSSGVSNRKRKRKVFSPIRSEPRSPSHSMRTRSGRLSSSELSPLTPPSSVSSSLSISVSPLATSALNPTFTFPSHSLTQSGESA
EKNQRPRKQTSAPAEPFSSSSPTPLFPWFTPGSQTERGRNKDKAPEELSKDRDADKSVEKDKSRERDREREKENKRESRKEKRKKGSEIQ
SSSALYPVGRVSKEKVVGEDVATSSSAKKATGRKKSSSHDSGTDITSVTLGDTTAVKTKILIKKGRGNLEKTNLDLGPTAPSLEKEKTLC
LSTPSSSTVKHSTSSIGSMLAQADKLPMTDKRVASLLKKAKAQLCKIEKSKSLKQTDQPKAQGQESDSSETSVRGPRIKHVCRRAAVALG
RKRAVFPDDMPTLSALPWEEREKILSSMGNDDKSSIAGSEDAEPLAPPIKPIKPVTRNKAPQEPPVKKGRRSRRCGQCPGCQVPEDCGVC
TNCLDKPKFGGRNIKKQCCKMRKCQNLQWMPSKAYLQKQAKAVKKKEKKSKTSEKKDSKESSVVKNVVDSSQKPTPSAREDPAPKKSSSE
PPPRKPVEEKSEEGNVSAPGPESKQATTPASRKSSKQVSQPALVIPPQPPTTGPPRKEVPKTTPSEPKKKQPPPPESGPEQSKQKKVAPR
PSIPVKQKPKEKVERPPSPFSMAPQASLPPVPPRLDLLPQRVCVPSSASALGTASKAASGSLHKDKPLPVPPTLRDLPPPPPPDRPYSVG
AESRPQRRPLPCTPGDCPSRDKLPPVPSSRLGDSWLPRPIPKVPVSAPSSSDPWTGRELTNRHSLPFSLPSQMEPRPDVPRLGSTFSLDT
SMSMNSSPLVGPECDHPKIKPSSSANAIYSLAARPLPVPKLPPGEQCEGEEDTEYMTPSSRPLRPLDTSQSSRACDCDQQIDSCTYEAMY
NIQSQAPSITESSTFGEGNLAAAHANTGPEESENEDDGYDVPKPPVPAVLARRTLSDISNASSSFGWLSLDGDPTTNVTEGSQVPERPPK

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

>43149_43149_3_KMT2A-CBL_KMT2A_chr11_118353210_ENST00000534358_CBL_chr11_119155678_ENST00000264033_length(amino acids)=1791AA_BP=7
MAHSCRWRFPARPGTTGGGGGGGRRGLGGAPRQRVPALLLPPGPPVGGGGPGAPPSPPAVAAAAAAAGSSGAGVPGGAAAASAASSSSAS
SSSSSSSSASSGPALLRVGPGFDAALQVSAAIGTNLRRFRAVFGESGGGGGSGEDEQFLGFGSDEEVRVRSPTRSPSVKTSPRKPRGRPR
SGSDRNSAILSDPSVFSPLNKSETKSGDKIKKKDSKSIEKKRGRPPTFPGVKIKITHGKDISELPKGNKEDSLKKIKRTPSATFQQATKI
KKLRAGKLSPLKSKFKTGKLQIGRKGVQIVRRRGRPPSTERIKTPSGLLINSELEKPQKVRKDKEGTPPLTKEDKTVVRQSPRRIKPVRI
IPSSKRTDATIAKQLLQRAKKGAQKKIEKEAAQLQGRKVKTQVKNIRQFIMPVVSAISSRIIKTPRRFIEDEDYDPPIKIARLESTPNSR
FSAPSCGSSEKSSAASQHSSQMSSDSSRSSSPSVDTSTDSQASEEIQVLPEERSDTPEVHPPLPISQSPENESNDRRSRRYSVSERSFGS
RTTKKLSTLQSAPQQQTSSSPPPPLLTPPPPLQPASSISDHTPWLMPPTIPLASPFLPASTAPMQGKRKSILREPTFRWTSLKHSRSEPQ
YFSSAKYAKEGLIRKPIFDNFRPPPLTPEDVGFASGFSASGTAASARLFSPLHSGTRFDMHKRSPLLRAPRFTPSEAHSRIFESVTLPSN
RTSAGTSSSGVSNRKRKRKVFSPIRSEPRSPSHSMRTRSGRLSSSELSPLTPPSSVSSSLSISVSPLATSALNPTFTFPSHSLTQSGESA
EKNQRPRKQTSAPAEPFSSSSPTPLFPWFTPGSQTERGRNKDKAPEELSKDRDADKSVEKDKSRERDREREKENKRESRKEKRKKGSEIQ
SSSALYPVGRVSKEKVVGEDVATSSSAKKATGRKKSSSHDSGTDITSVTLGDTTAVKTKILIKKGRGNLEKTNLDLGPTAPSLEKEKTLC
LSTPSSSTVKHSTSSIGSMLAQADKLPMTDKRVASLLKKAKAQLCKIEKSKSLKQTDQPKAQGQESDSSETSVRGPRIKHVCRRAAVALG
RKRAVFPDDMPTLSALPWEEREKILSSMGNDDKSSIAGSEDAEPLAPPIKPIKPVTRNKAPQEPPVKKGRRSRRCGQCPGCQVPEDCGVC
TNCLDKPKFGGRNIKKQCCKMRKCQNLQWMPSKAYLQKQAKAVKKKEKKSKTSEKKDSKESSVVKNVVDSSQKPTPSAREDPAPKKSSSE
PPPRKPVEEKSEEGNVSAPGPESKQATTPASRKSSKQVSQPALVIPPQPPTTGPPRKEVPKTTPSEPKKKQPPPPESGPEQSKQKKVAPR
PSIPVKQKPKEKVERPPSPFSMAPQASLPPVPPRLDLLPQRVCVPSSASALGTASKAASGSLHKDKPLPVPPTLRDLPPPPPPDRPYSVG
AESRPQRRPLPCTPGDCPSRDKLPPVPSSRLGDSWLPRPIPKVPVSAPSSSDPWTGRELTNRHSLPFSLPSQMEPRPDVPRLGSTFSLDT
SMSMNSSPLVGPECDHPKIKPSSSANAIYSLAARPLPVPKLPPGEQCEGEEDTEYMTPSSRPLRPLDTSQSSRACDCDQQIDSCTYEAMY
NIQSQAPSITESSTFGEGNLAAAHANTGPEESENEDDGYDVPKPPVPAVLARRTLSDISNASSSFGWLSLDGDPTTNVTEGSQVPERPPK

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

>43149_43149_4_KMT2A-CBL_KMT2A_chr11_118353213_ENST00000354520_CBL_chr11_119155677_ENST00000264033_length(amino acids)=1791AA_BP=7
MAHSCRWRFPARPGTTGGGGGGGRRGLGGAPRQRVPALLLPPGPPVGGGGPGAPPSPPAVAAAAAAAGSSGAGVPGGAAAASAASSSSAS
SSSSSSSSASSGPALLRVGPGFDAALQVSAAIGTNLRRFRAVFGESGGGGGSGEDEQFLGFGSDEEVRVRSPTRSPSVKTSPRKPRGRPR
SGSDRNSAILSDPSVFSPLNKSETKSGDKIKKKDSKSIEKKRGRPPTFPGVKIKITHGKDISELPKGNKEDSLKKIKRTPSATFQQATKI
KKLRAGKLSPLKSKFKTGKLQIGRKGVQIVRRRGRPPSTERIKTPSGLLINSELEKPQKVRKDKEGTPPLTKEDKTVVRQSPRRIKPVRI
IPSSKRTDATIAKQLLQRAKKGAQKKIEKEAAQLQGRKVKTQVKNIRQFIMPVVSAISSRIIKTPRRFIEDEDYDPPIKIARLESTPNSR
FSAPSCGSSEKSSAASQHSSQMSSDSSRSSSPSVDTSTDSQASEEIQVLPEERSDTPEVHPPLPISQSPENESNDRRSRRYSVSERSFGS
RTTKKLSTLQSAPQQQTSSSPPPPLLTPPPPLQPASSISDHTPWLMPPTIPLASPFLPASTAPMQGKRKSILREPTFRWTSLKHSRSEPQ
YFSSAKYAKEGLIRKPIFDNFRPPPLTPEDVGFASGFSASGTAASARLFSPLHSGTRFDMHKRSPLLRAPRFTPSEAHSRIFESVTLPSN
RTSAGTSSSGVSNRKRKRKVFSPIRSEPRSPSHSMRTRSGRLSSSELSPLTPPSSVSSSLSISVSPLATSALNPTFTFPSHSLTQSGESA
EKNQRPRKQTSAPAEPFSSSSPTPLFPWFTPGSQTERGRNKDKAPEELSKDRDADKSVEKDKSRERDREREKENKRESRKEKRKKGSEIQ
SSSALYPVGRVSKEKVVGEDVATSSSAKKATGRKKSSSHDSGTDITSVTLGDTTAVKTKILIKKGRGNLEKTNLDLGPTAPSLEKEKTLC
LSTPSSSTVKHSTSSIGSMLAQADKLPMTDKRVASLLKKAKAQLCKIEKSKSLKQTDQPKAQGQESDSSETSVRGPRIKHVCRRAAVALG
RKRAVFPDDMPTLSALPWEEREKILSSMGNDDKSSIAGSEDAEPLAPPIKPIKPVTRNKAPQEPPVKKGRRSRRCGQCPGCQVPEDCGVC
TNCLDKPKFGGRNIKKQCCKMRKCQNLQWMPSKAYLQKQAKAVKKKEKKSKTSEKKDSKESSVVKNVVDSSQKPTPSAREDPAPKKSSSE
PPPRKPVEEKSEEGNVSAPGPESKQATTPASRKSSKQVSQPALVIPPQPPTTGPPRKEVPKTTPSEPKKKQPPPPESGPEQSKQKKVAPR
PSIPVKQKPKEKVERPPSPFSMAPQASLPPVPPRLDLLPQRVCVPSSASALGTASKAASGSLHKDKPLPVPPTLRDLPPPPPPDRPYSVG
AESRPQRRPLPCTPGDCPSRDKLPPVPSSRLGDSWLPRPIPKVPVSAPSSSDPWTGRELTNRHSLPFSLPSQMEPRPDVPRLGSTFSLDT
SMSMNSSPLVGPECDHPKIKPSSSANAIYSLAARPLPVPKLPPGEQCEGEEDTEYMTPSSRPLRPLDTSQSSRACDCDQQIDSCTYEAMY
NIQSQAPSITESSTFGEGNLAAAHANTGPEESENEDDGYDVPKPPVPAVLARRTLSDISNASSSFGWLSLDGDPTTNVTEGSQVPERPPK

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

>43149_43149_5_KMT2A-CBL_KMT2A_chr11_118353213_ENST00000389506_CBL_chr11_119155677_ENST00000264033_length(amino acids)=1791AA_BP=7
MAHSCRWRFPARPGTTGGGGGGGRRGLGGAPRQRVPALLLPPGPPVGGGGPGAPPSPPAVAAAAAAAGSSGAGVPGGAAAASAASSSSAS
SSSSSSSSASSGPALLRVGPGFDAALQVSAAIGTNLRRFRAVFGESGGGGGSGEDEQFLGFGSDEEVRVRSPTRSPSVKTSPRKPRGRPR
SGSDRNSAILSDPSVFSPLNKSETKSGDKIKKKDSKSIEKKRGRPPTFPGVKIKITHGKDISELPKGNKEDSLKKIKRTPSATFQQATKI
KKLRAGKLSPLKSKFKTGKLQIGRKGVQIVRRRGRPPSTERIKTPSGLLINSELEKPQKVRKDKEGTPPLTKEDKTVVRQSPRRIKPVRI
IPSSKRTDATIAKQLLQRAKKGAQKKIEKEAAQLQGRKVKTQVKNIRQFIMPVVSAISSRIIKTPRRFIEDEDYDPPIKIARLESTPNSR
FSAPSCGSSEKSSAASQHSSQMSSDSSRSSSPSVDTSTDSQASEEIQVLPEERSDTPEVHPPLPISQSPENESNDRRSRRYSVSERSFGS
RTTKKLSTLQSAPQQQTSSSPPPPLLTPPPPLQPASSISDHTPWLMPPTIPLASPFLPASTAPMQGKRKSILREPTFRWTSLKHSRSEPQ
YFSSAKYAKEGLIRKPIFDNFRPPPLTPEDVGFASGFSASGTAASARLFSPLHSGTRFDMHKRSPLLRAPRFTPSEAHSRIFESVTLPSN
RTSAGTSSSGVSNRKRKRKVFSPIRSEPRSPSHSMRTRSGRLSSSELSPLTPPSSVSSSLSISVSPLATSALNPTFTFPSHSLTQSGESA
EKNQRPRKQTSAPAEPFSSSSPTPLFPWFTPGSQTERGRNKDKAPEELSKDRDADKSVEKDKSRERDREREKENKRESRKEKRKKGSEIQ
SSSALYPVGRVSKEKVVGEDVATSSSAKKATGRKKSSSHDSGTDITSVTLGDTTAVKTKILIKKGRGNLEKTNLDLGPTAPSLEKEKTLC
LSTPSSSTVKHSTSSIGSMLAQADKLPMTDKRVASLLKKAKAQLCKIEKSKSLKQTDQPKAQGQESDSSETSVRGPRIKHVCRRAAVALG
RKRAVFPDDMPTLSALPWEEREKILSSMGNDDKSSIAGSEDAEPLAPPIKPIKPVTRNKAPQEPPVKKGRRSRRCGQCPGCQVPEDCGVC
TNCLDKPKFGGRNIKKQCCKMRKCQNLQWMPSKAYLQKQAKAVKKKEKKSKTSEKKDSKESSVVKNVVDSSQKPTPSAREDPAPKKSSSE
PPPRKPVEEKSEEGNVSAPGPESKQATTPASRKSSKQVSQPALVIPPQPPTTGPPRKEVPKTTPSEPKKKQPPPPESGPEQSKQKKVAPR
PSIPVKQKPKEKVERPPSPFSMAPQASLPPVPPRLDLLPQRVCVPSSASALGTASKAASGSLHKDKPLPVPPTLRDLPPPPPPDRPYSVG
AESRPQRRPLPCTPGDCPSRDKLPPVPSSRLGDSWLPRPIPKVPVSAPSSSDPWTGRELTNRHSLPFSLPSQMEPRPDVPRLGSTFSLDT
SMSMNSSPLVGPECDHPKIKPSSSANAIYSLAARPLPVPKLPPGEQCEGEEDTEYMTPSSRPLRPLDTSQSSRACDCDQQIDSCTYEAMY
NIQSQAPSITESSTFGEGNLAAAHANTGPEESENEDDGYDVPKPPVPAVLARRTLSDISNASSSFGWLSLDGDPTTNVTEGSQVPERPPK

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

>43149_43149_6_KMT2A-CBL_KMT2A_chr11_118353213_ENST00000534358_CBL_chr11_119155677_ENST00000264033_length(amino acids)=1791AA_BP=7
MAHSCRWRFPARPGTTGGGGGGGRRGLGGAPRQRVPALLLPPGPPVGGGGPGAPPSPPAVAAAAAAAGSSGAGVPGGAAAASAASSSSAS
SSSSSSSSASSGPALLRVGPGFDAALQVSAAIGTNLRRFRAVFGESGGGGGSGEDEQFLGFGSDEEVRVRSPTRSPSVKTSPRKPRGRPR
SGSDRNSAILSDPSVFSPLNKSETKSGDKIKKKDSKSIEKKRGRPPTFPGVKIKITHGKDISELPKGNKEDSLKKIKRTPSATFQQATKI
KKLRAGKLSPLKSKFKTGKLQIGRKGVQIVRRRGRPPSTERIKTPSGLLINSELEKPQKVRKDKEGTPPLTKEDKTVVRQSPRRIKPVRI
IPSSKRTDATIAKQLLQRAKKGAQKKIEKEAAQLQGRKVKTQVKNIRQFIMPVVSAISSRIIKTPRRFIEDEDYDPPIKIARLESTPNSR
FSAPSCGSSEKSSAASQHSSQMSSDSSRSSSPSVDTSTDSQASEEIQVLPEERSDTPEVHPPLPISQSPENESNDRRSRRYSVSERSFGS
RTTKKLSTLQSAPQQQTSSSPPPPLLTPPPPLQPASSISDHTPWLMPPTIPLASPFLPASTAPMQGKRKSILREPTFRWTSLKHSRSEPQ
YFSSAKYAKEGLIRKPIFDNFRPPPLTPEDVGFASGFSASGTAASARLFSPLHSGTRFDMHKRSPLLRAPRFTPSEAHSRIFESVTLPSN
RTSAGTSSSGVSNRKRKRKVFSPIRSEPRSPSHSMRTRSGRLSSSELSPLTPPSSVSSSLSISVSPLATSALNPTFTFPSHSLTQSGESA
EKNQRPRKQTSAPAEPFSSSSPTPLFPWFTPGSQTERGRNKDKAPEELSKDRDADKSVEKDKSRERDREREKENKRESRKEKRKKGSEIQ
SSSALYPVGRVSKEKVVGEDVATSSSAKKATGRKKSSSHDSGTDITSVTLGDTTAVKTKILIKKGRGNLEKTNLDLGPTAPSLEKEKTLC
LSTPSSSTVKHSTSSIGSMLAQADKLPMTDKRVASLLKKAKAQLCKIEKSKSLKQTDQPKAQGQESDSSETSVRGPRIKHVCRRAAVALG
RKRAVFPDDMPTLSALPWEEREKILSSMGNDDKSSIAGSEDAEPLAPPIKPIKPVTRNKAPQEPPVKKGRRSRRCGQCPGCQVPEDCGVC
TNCLDKPKFGGRNIKKQCCKMRKCQNLQWMPSKAYLQKQAKAVKKKEKKSKTSEKKDSKESSVVKNVVDSSQKPTPSAREDPAPKKSSSE
PPPRKPVEEKSEEGNVSAPGPESKQATTPASRKSSKQVSQPALVIPPQPPTTGPPRKEVPKTTPSEPKKKQPPPPESGPEQSKQKKVAPR
PSIPVKQKPKEKVERPPSPFSMAPQASLPPVPPRLDLLPQRVCVPSSASALGTASKAASGSLHKDKPLPVPPTLRDLPPPPPPDRPYSVG
AESRPQRRPLPCTPGDCPSRDKLPPVPSSRLGDSWLPRPIPKVPVSAPSSSDPWTGRELTNRHSLPFSLPSQMEPRPDVPRLGSTFSLDT
SMSMNSSPLVGPECDHPKIKPSSSANAIYSLAARPLPVPKLPPGEQCEGEEDTEYMTPSSRPLRPLDTSQSSRACDCDQQIDSCTYEAMY
NIQSQAPSITESSTFGEGNLAAAHANTGPEESENEDDGYDVPKPPVPAVLARRTLSDISNASSSFGWLSLDGDPTTNVTEGSQVPERPPK

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

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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/chr11:118353213/chr11:119155677)
- 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
KMT2A

Q03164

CBL

Q8IUK8

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}.FUNCTION: Acts as a synaptic organizer in specific subsets of neurons in the brain (By similarity). Essential for long-term maintenance but not establishment of excitatory synapses (By similarity). {ECO:0000250|UniProtKB:Q8BGU2}.

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
HgeneKMT2Achr11:118353213chr11:119155677ENST00000354520+835137_1431362.03932.0Compositional biasNote=Poly-Gly
HgeneKMT2Achr11:118353213chr11:119155677ENST00000354520+83517_1021362.03932.0Compositional biasNote=Ala/Gly/Ser-rich
HgeneKMT2Achr11:118353213chr11:119155677ENST00000354520+835561_5641362.03932.0Compositional biasNote=Poly-Pro
HgeneKMT2Achr11:118353213chr11:119155677ENST00000354520+835568_5711362.03932.0Compositional biasNote=Poly-Pro
HgeneKMT2Achr11:118353213chr11:119155677ENST00000389506+836137_1431362.03970.0Compositional biasNote=Poly-Gly
HgeneKMT2Achr11:118353213chr11:119155677ENST00000389506+83617_1021362.03970.0Compositional biasNote=Ala/Gly/Ser-rich
HgeneKMT2Achr11:118353213chr11:119155677ENST00000389506+836561_5641362.03970.0Compositional biasNote=Poly-Pro
HgeneKMT2Achr11:118353213chr11:119155677ENST00000389506+836568_5711362.03970.0Compositional biasNote=Poly-Pro
HgeneKMT2Achr11:118353213chr11:119155677ENST00000534358+836137_1431362.03973.0Compositional biasNote=Poly-Gly
HgeneKMT2Achr11:118353213chr11:119155677ENST00000534358+83617_1021362.03973.0Compositional biasNote=Ala/Gly/Ser-rich
HgeneKMT2Achr11:118353213chr11:119155677ENST00000534358+836561_5641362.03973.0Compositional biasNote=Poly-Pro
HgeneKMT2Achr11:118353213chr11:119155677ENST00000534358+836568_5711362.03973.0Compositional biasNote=Poly-Pro
HgeneKMT2Achr11:118353213chr11:119155677ENST00000354520+835169_1801362.03932.0DNA bindingNote=A.T hook 1
HgeneKMT2Achr11:118353213chr11:119155677ENST00000354520+835217_2271362.03932.0DNA bindingNote=A.T hook 2
HgeneKMT2Achr11:118353213chr11:119155677ENST00000354520+835301_3091362.03932.0DNA bindingNote=A.T hook 3
HgeneKMT2Achr11:118353213chr11:119155677ENST00000389506+836169_1801362.03970.0DNA bindingNote=A.T hook 1
HgeneKMT2Achr11:118353213chr11:119155677ENST00000389506+836217_2271362.03970.0DNA bindingNote=A.T hook 2
HgeneKMT2Achr11:118353213chr11:119155677ENST00000389506+836301_3091362.03970.0DNA bindingNote=A.T hook 3
HgeneKMT2Achr11:118353213chr11:119155677ENST00000534358+836169_1801362.03973.0DNA bindingNote=A.T hook 1
HgeneKMT2Achr11:118353213chr11:119155677ENST00000534358+836217_2271362.03973.0DNA bindingNote=A.T hook 2
HgeneKMT2Achr11:118353213chr11:119155677ENST00000534358+836301_3091362.03973.0DNA bindingNote=A.T hook 3
HgeneKMT2Achr11:118353213chr11:119155677ENST00000354520+835123_1341362.03932.0MotifIntegrase domain-binding motif 1 (IBM1)
HgeneKMT2Achr11:118353213chr11:119155677ENST00000354520+835147_1521362.03932.0MotifIntegrase domain-binding motif 2 (IBM2)
HgeneKMT2Achr11:118353213chr11:119155677ENST00000354520+8356_251362.03932.0MotifMenin-binding motif (MBM)
HgeneKMT2Achr11:118353213chr11:119155677ENST00000389506+836123_1341362.03970.0MotifIntegrase domain-binding motif 1 (IBM1)
HgeneKMT2Achr11:118353213chr11:119155677ENST00000389506+836147_1521362.03970.0MotifIntegrase domain-binding motif 2 (IBM2)
HgeneKMT2Achr11:118353213chr11:119155677ENST00000389506+8366_251362.03970.0MotifMenin-binding motif (MBM)
HgeneKMT2Achr11:118353213chr11:119155677ENST00000534358+836123_1341362.03973.0MotifIntegrase domain-binding motif 1 (IBM1)
HgeneKMT2Achr11:118353213chr11:119155677ENST00000534358+836147_1521362.03973.0MotifIntegrase domain-binding motif 2 (IBM2)
HgeneKMT2Achr11:118353213chr11:119155677ENST00000534358+8366_251362.03973.0MotifMenin-binding motif (MBM)
HgeneKMT2Achr11:118353213chr11:119155677ENST00000354520+8351147_11951362.03932.0Zinc fingerCXXC-type
HgeneKMT2Achr11:118353213chr11:119155677ENST00000389506+8361147_11951362.03970.0Zinc fingerCXXC-type
HgeneKMT2Achr11:118353213chr11:119155677ENST00000534358+8361147_11951362.03973.0Zinc fingerCXXC-type
TgeneCBLchr11:118353213chr11:119155677ENST00000264033816477_688477.0907.0Compositional biasNote=Pro-rich
TgeneCBLchr11:118353213chr11:119155677ENST00000264033816689_834477.0907.0Compositional biasNote=Asp/Glu-rich (acidic)
TgeneCBLchr11:118353213chr11:119155677ENST00000264033816856_895477.0907.0DomainUBA

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneKMT2Achr11:118353213chr11:119155677ENST00000354520+8351703_17481362.03932.0DomainBromo%3B divergent
HgeneKMT2Achr11:118353213chr11:119155677ENST00000354520+8352018_20741362.03932.0DomainFYR N-terminal
HgeneKMT2Achr11:118353213chr11:119155677ENST00000354520+8353666_37471362.03932.0DomainFYR C-terminal
HgeneKMT2Achr11:118353213chr11:119155677ENST00000354520+8353829_39451362.03932.0DomainSET
HgeneKMT2Achr11:118353213chr11:119155677ENST00000354520+8353953_39691362.03932.0DomainPost-SET
HgeneKMT2Achr11:118353213chr11:119155677ENST00000389506+8361703_17481362.03970.0DomainBromo%3B divergent
HgeneKMT2Achr11:118353213chr11:119155677ENST00000389506+8362018_20741362.03970.0DomainFYR N-terminal
HgeneKMT2Achr11:118353213chr11:119155677ENST00000389506+8363666_37471362.03970.0DomainFYR C-terminal
HgeneKMT2Achr11:118353213chr11:119155677ENST00000389506+8363829_39451362.03970.0DomainSET
HgeneKMT2Achr11:118353213chr11:119155677ENST00000389506+8363953_39691362.03970.0DomainPost-SET
HgeneKMT2Achr11:118353213chr11:119155677ENST00000534358+8361703_17481362.03973.0DomainBromo%3B divergent
HgeneKMT2Achr11:118353213chr11:119155677ENST00000534358+8362018_20741362.03973.0DomainFYR N-terminal
HgeneKMT2Achr11:118353213chr11:119155677ENST00000534358+8363666_37471362.03973.0DomainFYR C-terminal
HgeneKMT2Achr11:118353213chr11:119155677ENST00000534358+8363829_39451362.03973.0DomainSET
HgeneKMT2Achr11:118353213chr11:119155677ENST00000534358+8363953_39691362.03973.0DomainPost-SET
HgeneKMT2Achr11:118353213chr11:119155677ENST00000354520+8353906_39071362.03932.0RegionS-adenosyl-L-methionine binding
HgeneKMT2Achr11:118353213chr11:119155677ENST00000389506+8363906_39071362.03970.0RegionS-adenosyl-L-methionine binding
HgeneKMT2Achr11:118353213chr11:119155677ENST00000534358+8363906_39071362.03973.0RegionS-adenosyl-L-methionine binding
HgeneKMT2Achr11:118353213chr11:119155677ENST00000354520+8351431_14821362.03932.0Zinc fingerPHD-type 1
HgeneKMT2Achr11:118353213chr11:119155677ENST00000354520+8351479_15331362.03932.0Zinc fingerPHD-type 2
HgeneKMT2Achr11:118353213chr11:119155677ENST00000354520+8351566_16271362.03932.0Zinc fingerPHD-type 3
HgeneKMT2Achr11:118353213chr11:119155677ENST00000354520+8351870_19101362.03932.0Zinc fingerC2HC pre-PHD-type
HgeneKMT2Achr11:118353213chr11:119155677ENST00000354520+8351931_19781362.03932.0Zinc fingerPHD-type 4
HgeneKMT2Achr11:118353213chr11:119155677ENST00000389506+8361431_14821362.03970.0Zinc fingerPHD-type 1
HgeneKMT2Achr11:118353213chr11:119155677ENST00000389506+8361479_15331362.03970.0Zinc fingerPHD-type 2
HgeneKMT2Achr11:118353213chr11:119155677ENST00000389506+8361566_16271362.03970.0Zinc fingerPHD-type 3
HgeneKMT2Achr11:118353213chr11:119155677ENST00000389506+8361870_19101362.03970.0Zinc fingerC2HC pre-PHD-type
HgeneKMT2Achr11:118353213chr11:119155677ENST00000389506+8361931_19781362.03970.0Zinc fingerPHD-type 4
HgeneKMT2Achr11:118353213chr11:119155677ENST00000534358+8361431_14821362.03973.0Zinc fingerPHD-type 1
HgeneKMT2Achr11:118353213chr11:119155677ENST00000534358+8361479_15331362.03973.0Zinc fingerPHD-type 2
HgeneKMT2Achr11:118353213chr11:119155677ENST00000534358+8361566_16271362.03973.0Zinc fingerPHD-type 3
HgeneKMT2Achr11:118353213chr11:119155677ENST00000534358+8361870_19101362.03973.0Zinc fingerC2HC pre-PHD-type
HgeneKMT2Achr11:118353213chr11:119155677ENST00000534358+8361931_19781362.03973.0Zinc fingerPHD-type 4
TgeneCBLchr11:118353213chr11:119155677ENST00000264033816227_240477.0907.0Calcium binding.
TgeneCBLchr11:118353213chr11:119155677ENST00000264033816357_476477.0907.0Compositional biasNote=Asp/Glu-rich (acidic)
TgeneCBLchr11:118353213chr11:119155677ENST0000026403381647_351477.0907.0DomainCbl-PTB
TgeneCBLchr11:118353213chr11:119155677ENST00000264033816176_248477.0907.0RegionNote=EF-hand-like
TgeneCBLchr11:118353213chr11:119155677ENST00000264033816249_351477.0907.0RegionNote=SH2-like
TgeneCBLchr11:118353213chr11:119155677ENST00000264033816352_380477.0907.0RegionNote=Linker
TgeneCBLchr11:118353213chr11:119155677ENST00000264033816358_906477.0907.0RegionRequired for ubiquitination of SPRED2
TgeneCBLchr11:118353213chr11:119155677ENST0000026403381647_175477.0907.0RegionNote=4H
TgeneCBLchr11:118353213chr11:119155677ENST00000264033816381_420477.0907.0Zinc fingerRING-type


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Fusion Protein Structures

check button PDB and CIF files of the predicted fusion proteins
* Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.
Fusion protein PDB link (fusion AA seq ID in FusionPDB)HgeneHchrHbpHstrandTgeneTchrTbpTstrandAA seqLen(AA seq)
PDB file (1030)CIF file (1030) >>>1030.cifKMT2Achr11118353210+CBLchr11119155678+
MAHSCRWRFPARPGTTGGGGGGGRRGLGGAPRQRVPALLLPPGPPVGGGG
PGAPPSPPAVAAAAAAAGSSGAGVPGGAAAASAASSSSASSSSSSSSSAS
SGPALLRVGPGFDAALQVSAAIGTNLRRFRAVFGESGGGGGSGEDEQFLG
FGSDEEVRVRSPTRSPSVKTSPRKPRGRPRSGSDRNSAILSDPSVFSPLN
KSETKSGDKIKKKDSKSIEKKRGRPPTFPGVKIKITHGKDISELPKGNKE
DSLKKIKRTPSATFQQATKIKKLRAGKLSPLKSKFKTGKLQIGRKGVQIV
RRRGRPPSTERIKTPSGLLINSELEKPQKVRKDKEGTPPLTKEDKTVVRQ
SPRRIKPVRIIPSSKRTDATIAKQLLQRAKKGAQKKIEKEAAQLQGRKVK
TQVKNIRQFIMPVVSAISSRIIKTPRRFIEDEDYDPPIKIARLESTPNSR
FSAPSCGSSEKSSAASQHSSQMSSDSSRSSSPSVDTSTDSQASEEIQVLP
EERSDTPEVHPPLPISQSPENESNDRRSRRYSVSERSFGSRTTKKLSTLQ
SAPQQQTSSSPPPPLLTPPPPLQPASSISDHTPWLMPPTIPLASPFLPAS
TAPMQGKRKSILREPTFRWTSLKHSRSEPQYFSSAKYAKEGLIRKPIFDN
FRPPPLTPEDVGFASGFSASGTAASARLFSPLHSGTRFDMHKRSPLLRAP
RFTPSEAHSRIFESVTLPSNRTSAGTSSSGVSNRKRKRKVFSPIRSEPRS
PSHSMRTRSGRLSSSELSPLTPPSSVSSSLSISVSPLATSALNPTFTFPS
HSLTQSGESAEKNQRPRKQTSAPAEPFSSSSPTPLFPWFTPGSQTERGRN
KDKAPEELSKDRDADKSVEKDKSRERDREREKENKRESRKEKRKKGSEIQ
SSSALYPVGRVSKEKVVGEDVATSSSAKKATGRKKSSSHDSGTDITSVTL
GDTTAVKTKILIKKGRGNLEKTNLDLGPTAPSLEKEKTLCLSTPSSSTVK
HSTSSIGSMLAQADKLPMTDKRVASLLKKAKAQLCKIEKSKSLKQTDQPK
AQGQESDSSETSVRGPRIKHVCRRAAVALGRKRAVFPDDMPTLSALPWEE
REKILSSMGNDDKSSIAGSEDAEPLAPPIKPIKPVTRNKAPQEPPVKKGR
RSRRCGQCPGCQVPEDCGVCTNCLDKPKFGGRNIKKQCCKMRKCQNLQWM
PSKAYLQKQAKAVKKKEKKSKTSEKKDSKESSVVKNVVDSSQKPTPSARE
DPAPKKSSSEPPPRKPVEEKSEEGNVSAPGPESKQATTPASRKSSKQVSQ
PALVIPPQPPTTGPPRKEVPKTTPSEPKKKQPPPPESGPEQSKQKKVAPR
PSIPVKQKPKEKVERPPSPFSMAPQASLPPVPPRLDLLPQRVCVPSSASA
LGTASKAASGSLHKDKPLPVPPTLRDLPPPPPPDRPYSVGAESRPQRRPL
PCTPGDCPSRDKLPPVPSSRLGDSWLPRPIPKVPVSAPSSSDPWTGRELT
NRHSLPFSLPSQMEPRPDVPRLGSTFSLDTSMSMNSSPLVGPECDHPKIK
PSSSANAIYSLAARPLPVPKLPPGEQCEGEEDTEYMTPSSRPLRPLDTSQ
SSRACDCDQQIDSCTYEAMYNIQSQAPSITESSTFGEGNLAAAHANTGPE
ESENEDDGYDVPKPPVPAVLARRTLSDISNASSSFGWLSLDGDPTTNVTE
GSQVPERPPKPFPRRINSERKAGSCQQGSGPAASAATASPQLSSEIENLM
1791
3D view using mol* of 1030 (AA BP:)


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pLDDT score distribution

check button pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
KMT2A_pLDDT.png
all structure
all structure
CBL_pLDDT.png
all structure
all structure

check button pLDDT score distribution of the predicted fusion protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
KMT2A_CBL_1030_pLDDT_and_active_sites.png (AA BP:)
all structure
KMT2A_CBL_1030_violinplot.png (AA BP:)
all structure


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Ramachandran Plot of Fusion Protein Structure


check button Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide.
Fusion AA seq ID in FusionPDB and their Ramachandran plots

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Potential Active Site Information


check button The potential binding sites of these fusion proteins were identified using SiteMap, a module of the Schrodinger suite.
Fusion AA seq ID in FusionPDBSite scoreSizeD scoreVolumeExposureEnclosureContactPhobicPhilicBalanceDon/AccResidues
10300.755530.75969.2860.5620.5610.8270.5480.8030.6820.613Chain A: 31,32,33,34,35,1441,1442,1443,1444,1445,1
446

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Potentially Interacting Small Molecules through Virtual Screening


check button The FDA-approved small molecule library molecules were subjected to virtual screening using the Glide.
Fusion AA seq ID in FusionPDBZINC IDDrugBank IDDrug nameDocking scoreGlide gscore

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check button Drug information from DrugBank of the top 20 interacting small molecules.
ZINC IDDrugBank IDDrug nameDrug typeSMILESDrug group

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Biochemical Features of Small Molecules


check button ADME (Absorption, Distribution, Metabolism, and Excretion) of drugs using QikProp(v3.9)
ZINC IDmol_MWdipoleSASAFOSAFISAPISAWPSAvolumedonorHBaccptHBIPHuman Oral AbsorptionPercent Human Oral AbsorptionRule Of FiveRule Of Three


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Drug Toxicity Information


check button Toxicity information of individual drugs using eToxPred
ZINC IDSmileSurface AccessibilityToxicity


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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
KMT2Aall structure
CBLall 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
HgeneKMT2Achr11:118353213chr11:119155677ENST00000354520+8351584_16001362.03932.0histone H3K4me3
HgeneKMT2Achr11:118353213chr11:119155677ENST00000389506+8361584_16001362.03970.0histone H3K4me3
HgeneKMT2Achr11:118353213chr11:119155677ENST00000534358+8361584_16001362.03973.0histone H3K4me3


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Related Drugs to KMT2A-CBL


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 KMT2A-CBL


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
HgeneKMT2AC2826025Mixed phenotype acute leukemia3ORPHANET
HgeneKMT2AC0023418leukemia2CTD_human
HgeneKMT2AC0023452Childhood Acute Lymphoblastic Leukemia2CTD_human
HgeneKMT2AC0023453L2 Acute Lymphoblastic Leukemia2CTD_human
HgeneKMT2AC0023466Leukemia, Monocytic, Chronic2CTD_human
HgeneKMT2AC0023467Leukemia, Myelocytic, Acute2CTD_human
HgeneKMT2AC0023470Myeloid Leukemia2CTD_human
HgeneKMT2AC0026998Acute Myeloid Leukemia, M12CTD_human
HgeneKMT2AC1854630Growth Deficiency and Mental Retardation with Facial Dysmorphism2CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneKMT2AC1879321Acute Myeloid Leukemia (AML-M2)2CTD_human
HgeneKMT2AC1961102Precursor Cell Lymphoblastic Leukemia Lymphoma2CTD_human
HgeneKMT2AC0001418Adenocarcinoma1CTD_human
HgeneKMT2AC0004403Autosome Abnormalities1CTD_human
HgeneKMT2AC0005684Malignant neoplasm of urinary bladder1CTD_human
HgeneKMT2AC0005695Bladder Neoplasm1CTD_human
HgeneKMT2AC0007138Carcinoma, Transitional Cell1CTD_human
HgeneKMT2AC0008625Chromosome Aberrations1CTD_human
HgeneKMT2AC0023448Lymphoid leukemia1CTD_human
HgeneKMT2AC0023465Acute monocytic leukemia1CTD_human
HgeneKMT2AC0023479Acute myelomonocytic leukemia1CTD_human
HgeneKMT2AC0024623Malignant neoplasm of stomach1CTD_human
HgeneKMT2AC0033578Prostatic Neoplasms1CTD_human
HgeneKMT2AC0036341Schizophrenia1PSYGENET
HgeneKMT2AC0038356Stomach Neoplasms1CTD_human
HgeneKMT2AC0149925Small cell carcinoma of lung1CTD_human
HgeneKMT2AC0205641Adenocarcinoma, Basal Cell1CTD_human
HgeneKMT2AC0205642Adenocarcinoma, Oxyphilic1CTD_human
HgeneKMT2AC0205643Carcinoma, Cribriform1CTD_human
HgeneKMT2AC0205644Carcinoma, Granular Cell1CTD_human
HgeneKMT2AC0205645Adenocarcinoma, Tubular1CTD_human
HgeneKMT2AC0270972Cornelia De Lange Syndrome1ORPHANET
HgeneKMT2AC0280141Acute Undifferentiated Leukemia1ORPHANET
HgeneKMT2AC0376358Malignant neoplasm of prostate1CTD_human
HgeneKMT2AC0856823Undifferentiated type acute leukemia1ORPHANET
HgeneKMT2AC1535926Neurodevelopmental Disorders1CTD_human
HgeneKMT2AC1708349Hereditary Diffuse Gastric Cancer1CTD_human
HgeneKMT2AC2239176Liver carcinoma1CTD_human
HgeneKMT2AC2930974Acute erythroleukemia1CTD_human
HgeneKMT2AC2930975Acute erythroleukemia - M6a subtype1CTD_human
HgeneKMT2AC2930976Acute myeloid leukemia FAB-M61CTD_human
HgeneKMT2AC2930977Acute erythroleukemia - M6b subtype1CTD_human
TgeneCBLC3150803NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA8CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneCBLC0349639Juvenile Myelomonocytic Leukemia5CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneCBLC0008073Developmental Disabilities1CTD_human
TgeneCBLC0010417Cryptorchidism1CTD_human
TgeneCBLC0018273Growth Disorders1CTD_human
TgeneCBLC0021364Male infertility1CTD_human
TgeneCBLC0028326Noonan Syndrome1GENOMICS_ENGLAND
TgeneCBLC0042384Vasculitis1CTD_human
TgeneCBLC0085996Child Development Deviations1CTD_human
TgeneCBLC0085997Child Development Disorders, Specific1CTD_human
TgeneCBLC0431663Bilateral Cryptorchidism1CTD_human
TgeneCBLC0431664Unilateral Cryptorchidism1CTD_human
TgeneCBLC0848676Subfertility, Male1CTD_human
TgeneCBLC0917731Male sterility1CTD_human
TgeneCBLC1563730Abdominal Cryptorchidism1CTD_human
TgeneCBLC1563731Inguinal Cryptorchidism1CTD_human
TgeneCBLC4230920Fetal hydrops (in some patients)1GENOMICS_ENGLAND