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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: 19146

FusionGeneSummary for KMT2E_MAPT

check button Fusion gene summary
Fusion gene informationFusion gene name: KMT2E_MAPT
Fusion gene ID: 19146
HgeneTgene
Gene symbol

KMT2E

MAPT

Gene ID

55904

4137

Gene namelysine methyltransferase 2Emicrotubule associated protein tau
SynonymsHDCMC04P|MLL5|NKp44LDDPAC|FTDP-17|MAPTL|MSTD|MTBT1|MTBT2|PPND|PPP1R103|TAU
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 (tritmicrotubule-associated protein tauG protein beta1/gamma2 subunit-interacting factor 1PHF-tauneurofibrillary tangle proteinpaired helical filament-tauprotein phosphatase 1, regulatory subunit 103
Modification date2018051920180523
UniProtAcc

Q8IZD2

P10636

Ensembl transtripts involved in fusion geneENST00000311117, ENST00000334914, 
ENST00000257745, ENST00000334877, 
ENST00000476671, ENST00000480368, 
ENST00000535772, ENST00000344290, 
ENST00000351559, ENST00000347967, 
ENST00000262410, ENST00000340799, 
ENST00000570299, ENST00000334239, 
ENST00000446361, ENST00000574436, 
ENST00000431008, ENST00000571987, 
ENST00000420682, ENST00000415613, 
ENST00000576518, 
Fusion gene scores* DoF score8 X 10 X 3=2405 X 5 X 4=100
# samples 104
** MAII scorelog2(10/240*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/100*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KMT2E [Title/Abstract] AND MAPT [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
TgeneMAPT

GO:0000226

microtubule cytoskeleton organization

1057175

TgeneMAPT

GO:0031116

positive regulation of microtubule polymerization

1421571|7706316

TgeneMAPT

GO:0045773

positive regulation of axon extension

1389180

TgeneMAPT

GO:0050848

regulation of calcium-mediated signaling

18272392


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

104707254

+MAPTchr17

44039687

+
* 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-5UTRENST00000311117ENST00000535772KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000311117ENST00000344290KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000311117ENST00000351559KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000311117ENST00000347967KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000311117ENST00000262410KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000311117ENST00000340799KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-3UTRENST00000311117ENST00000570299KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000311117ENST00000334239KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000311117ENST00000446361KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-intronENST00000311117ENST00000574436KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-intronENST00000311117ENST00000431008KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-intronENST00000311117ENST00000571987KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-intronENST00000311117ENST00000420682KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-intronENST00000311117ENST00000415613KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-intronENST00000311117ENST00000576518KMT2Echr7

104707254

+MAPTchr17

44039687

+
5UTR-5UTRENST00000334914ENST00000535772KMT2Echr7

104707254

+MAPTchr17

44039687

+
5UTR-5UTRENST00000334914ENST00000344290KMT2Echr7

104707254

+MAPTchr17

44039687

+
5UTR-5UTRENST00000334914ENST00000351559KMT2Echr7

104707254

+MAPTchr17

44039687

+
5UTR-5UTRENST00000334914ENST00000347967KMT2Echr7

104707254

+MAPTchr17

44039687

+
5UTR-5UTRENST00000334914ENST00000262410KMT2Echr7

104707254

+MAPTchr17

44039687

+
5UTR-5UTRENST00000334914ENST00000340799KMT2Echr7

104707254

+MAPTchr17

44039687

+
5UTR-3UTRENST00000334914ENST00000570299KMT2Echr7

104707254

+MAPTchr17

44039687

+
5UTR-5UTRENST00000334914ENST00000334239KMT2Echr7

104707254

+MAPTchr17

44039687

+
5UTR-5UTRENST00000334914ENST00000446361KMT2Echr7

104707254

+MAPTchr17

44039687

+
5UTR-intronENST00000334914ENST00000574436KMT2Echr7

104707254

+MAPTchr17

44039687

+
5UTR-intronENST00000334914ENST00000431008KMT2Echr7

104707254

+MAPTchr17

44039687

+
5UTR-intronENST00000334914ENST00000571987KMT2Echr7

104707254

+MAPTchr17

44039687

+
5UTR-intronENST00000334914ENST00000420682KMT2Echr7

104707254

+MAPTchr17

44039687

+
5UTR-intronENST00000334914ENST00000415613KMT2Echr7

104707254

+MAPTchr17

44039687

+
5UTR-intronENST00000334914ENST00000576518KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000257745ENST00000535772KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000257745ENST00000344290KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000257745ENST00000351559KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000257745ENST00000347967KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000257745ENST00000262410KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000257745ENST00000340799KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-3UTRENST00000257745ENST00000570299KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000257745ENST00000334239KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000257745ENST00000446361KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-intronENST00000257745ENST00000574436KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-intronENST00000257745ENST00000431008KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-intronENST00000257745ENST00000571987KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-intronENST00000257745ENST00000420682KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-intronENST00000257745ENST00000415613KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-intronENST00000257745ENST00000576518KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000334877ENST00000535772KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000334877ENST00000344290KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000334877ENST00000351559KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000334877ENST00000347967KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000334877ENST00000262410KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000334877ENST00000340799KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-3UTRENST00000334877ENST00000570299KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000334877ENST00000334239KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000334877ENST00000446361KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-intronENST00000334877ENST00000574436KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-intronENST00000334877ENST00000431008KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-intronENST00000334877ENST00000571987KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-intronENST00000334877ENST00000420682KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-intronENST00000334877ENST00000415613KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-intronENST00000334877ENST00000576518KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000476671ENST00000535772KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000476671ENST00000344290KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000476671ENST00000351559KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000476671ENST00000347967KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000476671ENST00000262410KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000476671ENST00000340799KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-3UTRENST00000476671ENST00000570299KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000476671ENST00000334239KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000476671ENST00000446361KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-intronENST00000476671ENST00000574436KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-intronENST00000476671ENST00000431008KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-intronENST00000476671ENST00000571987KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-intronENST00000476671ENST00000420682KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-intronENST00000476671ENST00000415613KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-intronENST00000476671ENST00000576518KMT2Echr7

104707254

+MAPTchr17

44039687

+
intron-5UTRENST00000480368ENST00000535772KMT2Echr7

104707254

+MAPTchr17

44039687

+
intron-5UTRENST00000480368ENST00000344290KMT2Echr7

104707254

+MAPTchr17

44039687

+
intron-5UTRENST00000480368ENST00000351559KMT2Echr7

104707254

+MAPTchr17

44039687

+
intron-5UTRENST00000480368ENST00000347967KMT2Echr7

104707254

+MAPTchr17

44039687

+
intron-5UTRENST00000480368ENST00000262410KMT2Echr7

104707254

+MAPTchr17

44039687

+
intron-5UTRENST00000480368ENST00000340799KMT2Echr7

104707254

+MAPTchr17

44039687

+
intron-3UTRENST00000480368ENST00000570299KMT2Echr7

104707254

+MAPTchr17

44039687

+
intron-5UTRENST00000480368ENST00000334239KMT2Echr7

104707254

+MAPTchr17

44039687

+
intron-5UTRENST00000480368ENST00000446361KMT2Echr7

104707254

+MAPTchr17

44039687

+
intron-intronENST00000480368ENST00000574436KMT2Echr7

104707254

+MAPTchr17

44039687

+
intron-intronENST00000480368ENST00000431008KMT2Echr7

104707254

+MAPTchr17

44039687

+
intron-intronENST00000480368ENST00000571987KMT2Echr7

104707254

+MAPTchr17

44039687

+
intron-intronENST00000480368ENST00000420682KMT2Echr7

104707254

+MAPTchr17

44039687

+
intron-intronENST00000480368ENST00000415613KMT2Echr7

104707254

+MAPTchr17

44039687

+
intron-intronENST00000480368ENST00000576518KMT2Echr7

104707254

+MAPTchr17

44039687

+

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FusionProtFeatures for KMT2E_MAPT


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

Q8IZD2

MAPT

P10636


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_MAPT


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_MAPT


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, ASH2LMAPTAATF, MARK4, STXBP1, PIN1, SNCA, FYN, S100B, CALM1, PSEN1, APOE, YWHAZ, YWHAB, STUB1, PARK2, HSPA8, BAG1, HDAC6, OGT, HSPA4, EP300, SIRT1, UBE2D2, GSK3B, SQSTM1, PSMC2, TUBA1A, MARK1, CSNK1A1, PRKACA, GSK3A, CDK5, LRRK2, NUB1, ABL1, SYK, CSNK2A1, CSNK1D, SGK1, RPS6KB1, RPS6KA1, RPS6KA3, PTK2B, RPS6KA5, CAMK2A, HSPA1A, PKN1, PPP2R4, PPP5C, CAPN2, LIMS1, MAPK13, MAPK11, MAPK8, UBC, PEG10, MARK3, MARCH7, TUBA1B, TUBB3, MARK2, TUBA4A, YWHAQ, PRKAR1A, AKT1, CDK2, DCTN1, SRC, TRAF6, MAPT, UBASH3B, SLC1A2, CDK5R1, APP, FKBP4, EGFR, HAX1, NUFIP1, DGUOK, DNAAF2, UBE2W, EWSR1, SPICE1, SCLT1, AK2, TFEB, CKAP5, SYNCRIP, KATNA1, GAR1, TIGD6, USP43, BAG6, PIK3R1, NME2, GNPNAT1, ARMC1, RRP7A, CDCA8, DENR, SMAD2, BIN1


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


Top

RelatedDrugs for KMT2E_MAPT


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneMAPTP10636DB00448LansoprazoleMicrotubule-associated protein tausmall moleculeapproved|investigational
TgeneMAPTP10636DB01248DocetaxelMicrotubule-associated protein tausmall moleculeapproved|investigational
TgeneMAPTP10636DB01229PaclitaxelMicrotubule-associated protein tausmall moleculeapproved|vet_approved
TgeneMAPTP10636DB00637AstemizoleMicrotubule-associated protein tausmall moleculeapproved|withdrawn

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RelatedDiseases for KMT2E_MAPT


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneKMT2EC0023418leukemia1CTD_human
HgeneKMT2EC0023470Myeloid Leukemia1CTD_human
TgeneMAPTC0338451Frontotemporal dementia24CTD_human;HPO;UNIPROT
TgeneMAPTC0002395Alzheimer's Disease7CTD_human
TgeneMAPTC0236642Pick Disease of the Brain6CTD_human;UNIPROT
TgeneMAPTC0038868Progressive supranuclear palsy4CTD_human;ORPHANET;UNIPROT
TgeneMAPTC0949664Tauopathies4CTD_human
TgeneMAPTC0025261Memory Disorders3CTD_human
TgeneMAPTC0023186Learning Disorders2CTD_human
TgeneMAPTC0030567Parkinson Disease2CTD_human
TgeneMAPTC0242422Parkinsonian Disorders2CTD_human;HPO
TgeneMAPTC0497327Dementia2CTD_human;HPO
TgeneMAPTC0524851Neurodegenerative Disorders2CTD_human
TgeneMAPTC0005586Bipolar Disorder1PSYGENET
TgeneMAPTC0009241Cognition Disorders1CTD_human
TgeneMAPTC0035229Respiratory Insufficiency1CTD_human
TgeneMAPTC0038002Splenomegaly1CTD_human
TgeneMAPTC1262477Weight decreased1CTD_human
TgeneMAPTC3887612Psychomotor Agitation1CTD_human