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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: 19144

FusionGeneSummary for KMT2E_KANSL1

check button Fusion gene summary
Fusion gene informationFusion gene name: KMT2E_KANSL1
Fusion gene ID: 19144
HgeneTgene
Gene symbol

KMT2E

KANSL1

Gene ID

55904

284058

Gene namelysine methyltransferase 2EKAT8 regulatory NSL complex subunit 1
SynonymsHDCMC04P|MLL5|NKp44LCENP-36|KDVS|KIAA1267|MSL1v1|NSL1|hMSL1v1
Cytomap

7q22.3

17q21.31

Type of geneprotein-codingprotein-coding
Descriptioninactive histone-lysine N-methyltransferase 2Ehistone-lysine N-methyltransferase 2Ehistone-lysine N-methyltransferase MLL5inactive lysine N-methyltransferase 2Elysine (K)-specific methyltransferase 2Emyeloid/lymphoid or mixed-lineage leukemia 5 (tritKAT8 regulatory NSL complex subunit 1MLL1/MLL complex subunit KANSL1MSL1 homolog 1NSL complex protein NSL1centromere protein 36male-specific lethal 1 homolognon-specific lethal 1 homolog
Modification date2018051920180523
UniProtAcc

Q8IZD2

Q7Z3B3

Ensembl transtripts involved in fusion geneENST00000311117, ENST00000334914, 
ENST00000257745, ENST00000334877, 
ENST00000476671, ENST00000480368, 
ENST00000574590, ENST00000575318, 
ENST00000572904, ENST00000262419, 
ENST00000432791, ENST00000393476, 
ENST00000576248, 
Fusion gene scores* DoF score8 X 10 X 3=2407 X 6 X 5=210
# samples 108
** MAII scorelog2(10/240*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/210*10)=-1.39231742277876
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KMT2E [Title/Abstract] AND KANSL1 [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
TgeneKANSL1

GO:0043981

histone H4-K5 acetylation

20018852

TgeneKANSL1

GO:0043982

histone H4-K8 acetylation

20018852

TgeneKANSL1

GO:0043984

histone H4-K16 acetylation

20018852


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
TCGALDSTADTCGA-CD-8535-01AKMT2Echr7

104681470

+KANSL1chr17

44249598

-
* 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
5CDS-5UTRENST00000311117ENST00000574590KMT2Echr7

104681470

+KANSL1chr17

44249598

-
5CDS-intronENST00000311117ENST00000575318KMT2Echr7

104681470

+KANSL1chr17

44249598

-
5CDS-5UTRENST00000311117ENST00000572904KMT2Echr7

104681470

+KANSL1chr17

44249598

-
5CDS-5UTRENST00000311117ENST00000262419KMT2Echr7

104681470

+KANSL1chr17

44249598

-
5CDS-5UTRENST00000311117ENST00000432791KMT2Echr7

104681470

+KANSL1chr17

44249598

-
5CDS-5UTRENST00000311117ENST00000393476KMT2Echr7

104681470

+KANSL1chr17

44249598

-
5CDS-intronENST00000311117ENST00000576248KMT2Echr7

104681470

+KANSL1chr17

44249598

-
5UTR-5UTRENST00000334914ENST00000574590KMT2Echr7

104681470

+KANSL1chr17

44249598

-
5UTR-intronENST00000334914ENST00000575318KMT2Echr7

104681470

+KANSL1chr17

44249598

-
5UTR-5UTRENST00000334914ENST00000572904KMT2Echr7

104681470

+KANSL1chr17

44249598

-
5UTR-5UTRENST00000334914ENST00000262419KMT2Echr7

104681470

+KANSL1chr17

44249598

-
5UTR-5UTRENST00000334914ENST00000432791KMT2Echr7

104681470

+KANSL1chr17

44249598

-
5UTR-5UTRENST00000334914ENST00000393476KMT2Echr7

104681470

+KANSL1chr17

44249598

-
5UTR-intronENST00000334914ENST00000576248KMT2Echr7

104681470

+KANSL1chr17

44249598

-
5CDS-5UTRENST00000257745ENST00000574590KMT2Echr7

104681470

+KANSL1chr17

44249598

-
5CDS-intronENST00000257745ENST00000575318KMT2Echr7

104681470

+KANSL1chr17

44249598

-
5CDS-5UTRENST00000257745ENST00000572904KMT2Echr7

104681470

+KANSL1chr17

44249598

-
5CDS-5UTRENST00000257745ENST00000262419KMT2Echr7

104681470

+KANSL1chr17

44249598

-
5CDS-5UTRENST00000257745ENST00000432791KMT2Echr7

104681470

+KANSL1chr17

44249598

-
5CDS-5UTRENST00000257745ENST00000393476KMT2Echr7

104681470

+KANSL1chr17

44249598

-
5CDS-intronENST00000257745ENST00000576248KMT2Echr7

104681470

+KANSL1chr17

44249598

-
5CDS-5UTRENST00000334877ENST00000574590KMT2Echr7

104681470

+KANSL1chr17

44249598

-
5CDS-intronENST00000334877ENST00000575318KMT2Echr7

104681470

+KANSL1chr17

44249598

-
5CDS-5UTRENST00000334877ENST00000572904KMT2Echr7

104681470

+KANSL1chr17

44249598

-
5CDS-5UTRENST00000334877ENST00000262419KMT2Echr7

104681470

+KANSL1chr17

44249598

-
5CDS-5UTRENST00000334877ENST00000432791KMT2Echr7

104681470

+KANSL1chr17

44249598

-
5CDS-5UTRENST00000334877ENST00000393476KMT2Echr7

104681470

+KANSL1chr17

44249598

-
5CDS-intronENST00000334877ENST00000576248KMT2Echr7

104681470

+KANSL1chr17

44249598

-
5CDS-5UTRENST00000476671ENST00000574590KMT2Echr7

104681470

+KANSL1chr17

44249598

-
5CDS-intronENST00000476671ENST00000575318KMT2Echr7

104681470

+KANSL1chr17

44249598

-
5CDS-5UTRENST00000476671ENST00000572904KMT2Echr7

104681470

+KANSL1chr17

44249598

-
5CDS-5UTRENST00000476671ENST00000262419KMT2Echr7

104681470

+KANSL1chr17

44249598

-
5CDS-5UTRENST00000476671ENST00000432791KMT2Echr7

104681470

+KANSL1chr17

44249598

-
5CDS-5UTRENST00000476671ENST00000393476KMT2Echr7

104681470

+KANSL1chr17

44249598

-
5CDS-intronENST00000476671ENST00000576248KMT2Echr7

104681470

+KANSL1chr17

44249598

-
intron-5UTRENST00000480368ENST00000574590KMT2Echr7

104681470

+KANSL1chr17

44249598

-
intron-intronENST00000480368ENST00000575318KMT2Echr7

104681470

+KANSL1chr17

44249598

-
intron-5UTRENST00000480368ENST00000572904KMT2Echr7

104681470

+KANSL1chr17

44249598

-
intron-5UTRENST00000480368ENST00000262419KMT2Echr7

104681470

+KANSL1chr17

44249598

-
intron-5UTRENST00000480368ENST00000432791KMT2Echr7

104681470

+KANSL1chr17

44249598

-
intron-5UTRENST00000480368ENST00000393476KMT2Echr7

104681470

+KANSL1chr17

44249598

-
intron-intronENST00000480368ENST00000576248KMT2Echr7

104681470

+KANSL1chr17

44249598

-

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FusionProtFeatures for KMT2E_KANSL1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KMT2E

Q8IZD2

KANSL1

Q7Z3B3


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 KMT2E_KANSL1


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 KMT2E_KANSL1


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
KMT2ETP53, CDK1, ELAVL1, CUL1, KRAS, OGT, USP7, HCFC1, ILF2, RBM39, DHX30, DDX18, TRIM25, TOP2A, DDX50, ZNF768, YY1, RBBP4, MCM3, HDAC1, VPS4A, GRWD1, WDR6, DDX24, CDK11B, CDC7, SIN3A, CDK2, USP10, KPNA3, WDR12, SMYD3, SART1, RBBP6, TRAF6, ASH2LKANSL1CCDC85B, KRT15, NINL, PSME3, TRAF2, NECAB2, CEP70, USHBP1, CALCOCO2, PLEKHA5, KAT8, WDR5, CDC5L, DISC1, EXOC1, RBBP5, DHX8, CTCF, SMAD3, KDM1A, CDR2, GOLGA2, KIFC3, MAGEA12, TRIM27, PNMA1, TRAF4, SPAG5, NUP62, TFIP11, HOOK2, CCDC136, DTNBP1, FSD2, NUTM1, HSPB1, MDFI, FOXK2, PHF20, PHF20L1, KANSL2, TRAF1, DUS2, MCRS1, ECI2, TPM2, TRIM25


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 KMT2E_KANSL1


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 KMT2E_KANSL1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneKMT2EC0023418leukemia1CTD_human
HgeneKMT2EC0023470Myeloid Leukemia1CTD_human
TgeneKANSL1C0026827Muscle hypotonia2CTD_human
TgeneKANSL1C0376634Craniofacial Abnormalities2CTD_human
TgeneKANSL1C2931713Chromosome 17 deletion2CTD_human
TgeneKANSL1C3714756Intellectual Disability2CTD_human
TgeneKANSL1C0010606Adenoid Cystic Carcinoma1CTD_human
TgeneKANSL1C1860789Leukemia, Megakaryoblastic, of Down Syndrome1CTD_human