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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 7730

FusionGeneSummary for CNOT3_KMT2B

check button Fusion gene summary
Fusion gene informationFusion gene name: CNOT3_KMT2B
Fusion gene ID: 7730
HgeneTgene
Gene symbol

CNOT3

KMT2B

Gene ID

4849

9757

Gene nameCCR4-NOT transcription complex subunit 3lysine methyltransferase 2B
SynonymsLENG2|NOT3|NOT3HCXXC10|DYT28|HRX2|MLL1B|MLL2|MLL4|TRX2|WBP-7|WBP7
Cytomap

19q13.42

19q13.12

Type of geneprotein-codingprotein-coding
DescriptionCCR4-NOT transcription complex subunit 3CCR4-associated factor 3NOT3 (negative regulator of transcription 3, yeast) homologleukocyte receptor cluster member 2histone-lysine N-methyltransferase 2BWW domain binding protein 7histone-lysine N-methyltransferase MLL4lysine (K)-specific methyltransferase 2Bmixed lineage leukemia gene homolog 2myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosoph
Modification date2018052320180523
UniProtAcc

O75175

Q9UMN6

Ensembl transtripts involved in fusion geneENST00000221232, ENST00000358389, 
ENST00000406403, ENST00000496327, 
ENST00000341701, ENST00000607650, 
ENST00000222270, ENST00000420124, 
Fusion gene scores* DoF score1 X 1 X 1=12 X 2 X 2=8
# samples 12
** MAII scorelog2(1/1*10)=3.32192809488736log2(2/8*10)=1.32192809488736
Context

PubMed: CNOT3 [Title/Abstract] AND KMT2B [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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

check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDOVTCGA-24-2019-01ACNOT3chr19

54645195

+KMT2Bchr19

36214043

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-intronENST00000221232ENST00000341701CNOT3chr19

54645195

+KMT2Bchr19

36214043

+
intron-3UTRENST00000221232ENST00000607650CNOT3chr19

54645195

+KMT2Bchr19

36214043

+
intron-3UTRENST00000221232ENST00000222270CNOT3chr19

54645195

+KMT2Bchr19

36214043

+
intron-3UTRENST00000221232ENST00000420124CNOT3chr19

54645195

+KMT2Bchr19

36214043

+
intron-intronENST00000358389ENST00000341701CNOT3chr19

54645195

+KMT2Bchr19

36214043

+
intron-3UTRENST00000358389ENST00000607650CNOT3chr19

54645195

+KMT2Bchr19

36214043

+
intron-3UTRENST00000358389ENST00000222270CNOT3chr19

54645195

+KMT2Bchr19

36214043

+
intron-3UTRENST00000358389ENST00000420124CNOT3chr19

54645195

+KMT2Bchr19

36214043

+
5UTR-intronENST00000406403ENST00000341701CNOT3chr19

54645195

+KMT2Bchr19

36214043

+
5UTR-3UTRENST00000406403ENST00000607650CNOT3chr19

54645195

+KMT2Bchr19

36214043

+
5UTR-3UTRENST00000406403ENST00000222270CNOT3chr19

54645195

+KMT2Bchr19

36214043

+
5UTR-3UTRENST00000406403ENST00000420124CNOT3chr19

54645195

+KMT2Bchr19

36214043

+
intron-intronENST00000496327ENST00000341701CNOT3chr19

54645195

+KMT2Bchr19

36214043

+
intron-3UTRENST00000496327ENST00000607650CNOT3chr19

54645195

+KMT2Bchr19

36214043

+
intron-3UTRENST00000496327ENST00000222270CNOT3chr19

54645195

+KMT2Bchr19

36214043

+
intron-3UTRENST00000496327ENST00000420124CNOT3chr19

54645195

+KMT2Bchr19

36214043

+

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FusionProtFeatures for CNOT3_KMT2B


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CNOT3

O75175

KMT2B

Q9UMN6

Component of the CCR4-NOT complex which is one of themajor cellular mRNA deadenylases and is linked to various cellularprocesses including bulk mRNA degradation, miRNA-mediatedrepression, translational repression during translationalinitiation and general transcription regulation. Additionalcomplex functions may be a consequence of its influence on mRNAexpression. May be involved in metabolic regulation; may beinvolved in recruitment of the CCR4-NOT complex to deadenylationtarget mRNAs involved in energy metabolism. Involved in mitoticprogression and regulation of the spindle assembly checkpoint byregulating the stability of MAD1L1 mRNA. Can repress transcriptionand may link the CCR4-NOT complex to transcriptional regulation;the repressive function may involve histone deacetylases. Involvedin the maintenance of emryonic stem (ES) cell identity.{ECO:0000269|PubMed:14707134, ECO:0000269|PubMed:22342980,ECO:0000269|PubMed:22367759}. Histone methyltransferase. Methylates 'Lys-4' of histoneH3. H3 'Lys-4' methylation represents a specific tag forepigenetic transcriptional activation. Plays a central role inbeta-globin locus transcription regulation by being recruited byNFE2. Plays an important role in controlling bulk H3K4me duringoocyte growth and preimplantation development. Required during thetranscriptionally active period of oocyte growth for theestablishment and/or maintenance of bulk H3K4 trimethylation(H3K4me3), global transcriptional silencing that preceedsresumption of meiosis, oocyte survival and normal zygotic genomeactivation. {ECO:0000269|PubMed:17707229}.

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.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for CNOT3_KMT2B


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for CNOT3_KMT2B


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 (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
CNOT3CNOT2, CAND2, CNOT8, SRRM1, CNOT1, RQCD1, CIRBP, HNRNPLL, ID3, CNOT6L, CNOT6, SOX2, NLK, TNRC6A, TNRC6C, NANOS1, NANOS2, NANOS3, MMP7, CAPZA2, CNOT7, TNRC6B, NTRK1, CEP152, CNTROB, NINL, STIL, XPO1, MEX3C, RC3H1, TOB1, CNOT11, RIBC1, GADD45B, TEX13A, NCS1KMT2BSMARCB1, NCOA6, PAXIP1, RBBP5, ASH2L, PAGR1, WDR82, BCL6, RAP1B, SEPT8, GRB7, ATP1B1, RPP14, TK1, ANXA1, NREP, CDKN1A, SMN1, RCC1, PIN1, ANXA7, TSC22D1, WDR5, HIST2H3C, ATXN1, SMAD3, ZNF512B, HIST1H3A, PIK3R3, THOC2, ZNF131, HCFC2, P4HA3


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for CNOT3_KMT2B


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for CNOT3_KMT2B


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCNOT3C1961099Precursor T-Cell Lymphoblastic Leukemia-Lymphoma1CTD_human
TgeneKMT2BC2239176Liver carcinoma1CTD_human