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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: 11176

FusionGeneSummary for EHMT1_ZMYND19

check button Fusion gene summary
Fusion gene informationFusion gene name: EHMT1_ZMYND19
Fusion gene ID: 11176
HgeneTgene
Gene symbol

EHMT1

ZMYND19

Gene ID

79813

116225

Gene nameeuchromatic histone lysine methyltransferase 1zinc finger MYND-type containing 19
SynonymsEHMT1-IT1|EUHMTASE1|Eu-HMTase1|FP13812|GLP|GLP1|KLEFS1|KMT1DMIZIP
Cytomap

9q34.3

9q34.3

Type of geneprotein-codingprotein-coding
Descriptionhistone-lysine N-methyltransferase EHMT1EHMT1 intronic transcript 1G9a-like protein 1H3-K9-HMTase 5euchromatic histone-lysine N-methyltransferase 1histone H3-K9 methyltransferase 5histone-lysine N-methyltransferase, H3 lysine-9 specific 5lysine N-mzinc finger MYND domain-containing protein 19MCH-R1-interacting zinc finger proteinmelanin-concentrating hormone receptor 1 interacting zinc-finger proteinzinc finger, MYND domain containing 19
Modification date2018052220180522
UniProtAcc

Q9H9B1

Q96E35

Ensembl transtripts involved in fusion geneENST00000462484, ENST00000334856, 
ENST00000460843, ENST00000371394, 
ENST00000298585, ENST00000471957, 
Fusion gene scores* DoF score10 X 9 X 7=6305 X 3 X 7=105
# samples 137
** MAII scorelog2(13/630*10)=-2.27684020535882
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/105*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EHMT1 [Title/Abstract] AND ZMYND19 [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
HgeneEHMT1

GO:0006325

chromatin organization

12004135

HgeneEHMT1

GO:0016571

histone methylation

12004135

HgeneEHMT1

GO:0018027

peptidyl-lysine dimethylation

20118233


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
TCGALDTHCATCGA-EM-A2P3-01AEHMT1chr9

140513501

+ZMYND19chr9

140483170

-
* 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
In-frameENST00000462484ENST00000298585EHMT1chr9

140513501

+ZMYND19chr9

140483170

-
5CDS-5UTRENST00000462484ENST00000471957EHMT1chr9

140513501

+ZMYND19chr9

140483170

-
5UTR-3CDSENST00000334856ENST00000298585EHMT1chr9

140513501

+ZMYND19chr9

140483170

-
5UTR-5UTRENST00000334856ENST00000471957EHMT1chr9

140513501

+ZMYND19chr9

140483170

-
In-frameENST00000460843ENST00000298585EHMT1chr9

140513501

+ZMYND19chr9

140483170

-
5CDS-5UTRENST00000460843ENST00000471957EHMT1chr9

140513501

+ZMYND19chr9

140483170

-
3UTR-3CDSENST00000371394ENST00000298585EHMT1chr9

140513501

+ZMYND19chr9

140483170

-
3UTR-5UTRENST00000371394ENST00000471957EHMT1chr9

140513501

+ZMYND19chr9

140483170

-

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FusionProtFeatures for EHMT1_ZMYND19


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EHMT1

Q9H9B1

ZMYND19

Q96E35

Histone methyltransferase that specifically mono- anddimethylates 'Lys-9' of histone H3 (H3K9me1 and H3K9me2,respectively) in euchromatin. H3K9me represents a specific tag forepigenetic transcriptional repression by recruiting HP1 proteinsto methylated histones. Also weakly methylates 'Lys-27' of histoneH3 (H3K27me). Also required for DNA methylation, the histonemethyltransferase activity is not required for DNA methylation,suggesting that these 2 activities function independently.Probably targeted to histone H3 by different DNA-binding proteinslike E2F6, MGA, MAX and/or DP1. During G0 phase, it probablycontributes to silencing of MYC- and E2F-responsive genes,suggesting a role in G0/G1 transition in cell cycle. In additionto the histone methyltransferase activity, also methylates non-histone proteins: mediates dimethylation of 'Lys-373' of p53/TP53.{ECO:0000269|PubMed:12004135, ECO:0000269|PubMed:20118233}. May be involved as a regulatory molecule in GPR24/MCH-R1signaling.

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
TgeneZMYND19chr9:140513501chr9:140483170ENST00000298585-06158_16117228Compositional biasNote=Poly-Glu
TgeneZMYND19chr9:140513501chr9:140483170ENST00000298585-06164_21217228Zinc fingerMYND-type

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneEHMT1chr9:140513501chr9:140483170ENST00000334856+1171292_1295-24826Compositional biasNote=Poly-Ala
HgeneEHMT1chr9:140513501chr9:140483170ENST00000334856+117406_409-24826Compositional biasNote=Poly-Glu
HgeneEHMT1chr9:140513501chr9:140483170ENST00000334856+117442_449-24826Compositional biasNote=Poly-Arg
HgeneEHMT1chr9:140513501chr9:140483170ENST00000460843+1271292_129571299Compositional biasNote=Poly-Ala
HgeneEHMT1chr9:140513501chr9:140483170ENST00000460843+127406_40971299Compositional biasNote=Poly-Glu
HgeneEHMT1chr9:140513501chr9:140483170ENST00000460843+127442_44971299Compositional biasNote=Poly-Arg
HgeneEHMT1chr9:140513501chr9:140483170ENST00000462484+1161292_12957809Compositional biasNote=Poly-Ala
HgeneEHMT1chr9:140513501chr9:140483170ENST00000462484+116406_4097809Compositional biasNote=Poly-Glu
HgeneEHMT1chr9:140513501chr9:140483170ENST00000462484+116442_4497809Compositional biasNote=Poly-Arg
HgeneEHMT1chr9:140513501chr9:140483170ENST00000334856+1171060_1123-24826DomainPre-SET
HgeneEHMT1chr9:140513501chr9:140483170ENST00000334856+1171126_1243-24826DomainSET
HgeneEHMT1chr9:140513501chr9:140483170ENST00000460843+1271060_112371299DomainPre-SET
HgeneEHMT1chr9:140513501chr9:140483170ENST00000460843+1271126_124371299DomainSET
HgeneEHMT1chr9:140513501chr9:140483170ENST00000462484+1161060_11237809DomainPre-SET
HgeneEHMT1chr9:140513501chr9:140483170ENST00000462484+1161126_12437809DomainSET
HgeneEHMT1chr9:140513501chr9:140483170ENST00000334856+1171136_1138-24826RegionNote=S-adenosyl-L-methionine binding
HgeneEHMT1chr9:140513501chr9:140483170ENST00000334856+1171200_1201-24826RegionNote=S-adenosyl-L-methionine binding
HgeneEHMT1chr9:140513501chr9:140483170ENST00000334856+117905_907-24826RegionNote=Histone H3K9me binding
HgeneEHMT1chr9:140513501chr9:140483170ENST00000460843+1271136_113871299RegionNote=S-adenosyl-L-methionine binding
HgeneEHMT1chr9:140513501chr9:140483170ENST00000460843+1271200_120171299RegionNote=S-adenosyl-L-methionine binding
HgeneEHMT1chr9:140513501chr9:140483170ENST00000460843+127905_90771299RegionNote=Histone H3K9me binding
HgeneEHMT1chr9:140513501chr9:140483170ENST00000462484+1161136_11387809RegionNote=S-adenosyl-L-methionine binding
HgeneEHMT1chr9:140513501chr9:140483170ENST00000462484+1161200_12017809RegionNote=S-adenosyl-L-methionine binding
HgeneEHMT1chr9:140513501chr9:140483170ENST00000462484+116905_9077809RegionNote=Histone H3K9me binding
HgeneEHMT1chr9:140513501chr9:140483170ENST00000334856+117737_766-24826RepeatNote=ANK 1
HgeneEHMT1chr9:140513501chr9:140483170ENST00000334856+117772_801-24826RepeatNote=ANK 2
HgeneEHMT1chr9:140513501chr9:140483170ENST00000334856+117805_834-24826RepeatNote=ANK 3
HgeneEHMT1chr9:140513501chr9:140483170ENST00000334856+117838_868-24826RepeatNote=ANK 4
HgeneEHMT1chr9:140513501chr9:140483170ENST00000334856+117872_901-24826RepeatNote=ANK 5
HgeneEHMT1chr9:140513501chr9:140483170ENST00000334856+117905_934-24826RepeatNote=ANK 6
HgeneEHMT1chr9:140513501chr9:140483170ENST00000334856+117938_967-24826RepeatNote=ANK 7
HgeneEHMT1chr9:140513501chr9:140483170ENST00000334856+117971_1004-24826RepeatNote=ANK 8
HgeneEHMT1chr9:140513501chr9:140483170ENST00000460843+127737_76671299RepeatNote=ANK 1
HgeneEHMT1chr9:140513501chr9:140483170ENST00000460843+127772_80171299RepeatNote=ANK 2
HgeneEHMT1chr9:140513501chr9:140483170ENST00000460843+127805_83471299RepeatNote=ANK 3
HgeneEHMT1chr9:140513501chr9:140483170ENST00000460843+127838_86871299RepeatNote=ANK 4
HgeneEHMT1chr9:140513501chr9:140483170ENST00000460843+127872_90171299RepeatNote=ANK 5
HgeneEHMT1chr9:140513501chr9:140483170ENST00000460843+127905_93471299RepeatNote=ANK 6
HgeneEHMT1chr9:140513501chr9:140483170ENST00000460843+127938_96771299RepeatNote=ANK 7
HgeneEHMT1chr9:140513501chr9:140483170ENST00000460843+127971_100471299RepeatNote=ANK 8
HgeneEHMT1chr9:140513501chr9:140483170ENST00000462484+116737_7667809RepeatNote=ANK 1
HgeneEHMT1chr9:140513501chr9:140483170ENST00000462484+116772_8017809RepeatNote=ANK 2
HgeneEHMT1chr9:140513501chr9:140483170ENST00000462484+116805_8347809RepeatNote=ANK 3
HgeneEHMT1chr9:140513501chr9:140483170ENST00000462484+116838_8687809RepeatNote=ANK 4
HgeneEHMT1chr9:140513501chr9:140483170ENST00000462484+116872_9017809RepeatNote=ANK 5
HgeneEHMT1chr9:140513501chr9:140483170ENST00000462484+116905_9347809RepeatNote=ANK 6
HgeneEHMT1chr9:140513501chr9:140483170ENST00000462484+116938_9677809RepeatNote=ANK 7
HgeneEHMT1chr9:140513501chr9:140483170ENST00000462484+116971_10047809RepeatNote=ANK 8


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FusionGeneSequence for EHMT1_ZMYND19


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 EHMT1_ZMYND19


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
EHMT1JARID2, HIST1H3A, PCBD1, LZTR1, TRIM15, CTBP1, CTBP2, H3F3A, MDM2, TP53, BCL6, HIST3H3, SMARCAD1, RELA, EZH2, EED, DNMT3A, EHMT1, MPHOSPH8, TFAP4, CBX5, ATXN1, EHMT2, HDAC2, PRDM6, BMI1, SUV39H2, MIER2, HIST1H2BA, ZBTB46, SMEK1, WIZ, HDAC1, GMNN, GSG2, ZNF644, XAGE3, XAGE2, ZNF462, L3MBTL1, SIRT6ZMYND19PPP1R37, HACL1, KCTD13, TNNT1, ELAVL1, NAB2, TRIM27, TOX4, ENOX1, FIP1L1, LZTS2, PNMA5, FAM154A, SELV, INCA1, CCDC183, GLIPR1L2, TDGF1, MRPL4, RMND5A, MRPS30, PRG2, TNFAIP1, PRG3, TIGD5, PIGT, GABRA6, INSL6, NEU4, KRBA1, CDK5RAP1, SUCLA2, CCDC120, IKZF1, TLE4, NFATC1, BMP1, TMEM70, NDUFS6, MKLN1, ARMC8, RANBP9


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
HgeneEHMT1chr9:140513501chr9:140483170ENST00000334856+1171162_1181-24826histone H3
HgeneEHMT1chr9:140513501chr9:140483170ENST00000334856+1171242_1245-24826histone H3
HgeneEHMT1chr9:140513501chr9:140483170ENST00000460843+1271162_118171299histone H3
HgeneEHMT1chr9:140513501chr9:140483170ENST00000460843+1271242_124571299histone H3
HgeneEHMT1chr9:140513501chr9:140483170ENST00000462484+1161162_11817809histone H3
HgeneEHMT1chr9:140513501chr9:140483170ENST00000462484+1161242_12457809histone H3


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


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RelatedDrugs for EHMT1_ZMYND19


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 EHMT1_ZMYND19


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEHMT1C0025149Medulloblastoma1CTD_human
HgeneEHMT1C0795833Kleefstra Syndrome1CTD_human;UNIPROT