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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: 2986

FusionGeneSummary for ASH2L_MGME1

check button Fusion gene summary
Fusion gene informationFusion gene name: ASH2L_MGME1
Fusion gene ID: 2986
HgeneTgene
Gene symbol

ASH2L

MGME1

Gene ID

9070

92667

Gene nameASH2 like, histone lysine methyltransferase complex subunitmitochondrial genome maintenance exonuclease 1
SynonymsASH2|ASH2L1|ASH2L2|Bre2C20orf72|DDK1|MTDPS11|bA504H3.4
Cytomap

8p11.23

20p11.23

Type of geneprotein-codingprotein-coding
Descriptionset1/Ash2 histone methyltransferase complex subunit ASH2ASH2-like proteinash2 (absent, small, or homeotic)-likemitochondrial genome maintenance exonuclease 1
Modification date2018052320180526
UniProtAcc

Q9UBL3

Q9BQP7

Ensembl transtripts involved in fusion geneENST00000343823, ENST00000250635, 
ENST00000545394, ENST00000428278, 
ENST00000521652, ENST00000524263, 
ENST00000377710, ENST00000377709, 
ENST00000377704, ENST00000467391, 
Fusion gene scores* DoF score8 X 6 X 5=2403 X 2 X 2=12
# samples 83
** MAII scorelog2(8/240*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ASH2L [Title/Abstract] AND MGME1 [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
HgeneASH2L

GO:0006974

cellular response to DNA damage stimulus

17500065

HgeneASH2L

GO:0043627

response to estrogen

16603732

HgeneASH2L

GO:0051568

histone H3-K4 methylation

17355966|19556245


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
TCGALDBRCATCGA-E2-A15A-01AASH2Lchr8

37971805

+MGME1chr20

17968809

+
* 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
Frame-shitENST00000343823ENST00000377710ASH2Lchr8

37971805

+MGME1chr20

17968809

+
Frame-shitENST00000343823ENST00000377709ASH2Lchr8

37971805

+MGME1chr20

17968809

+
5CDS-intronENST00000343823ENST00000377704ASH2Lchr8

37971805

+MGME1chr20

17968809

+
5CDS-3UTRENST00000343823ENST00000467391ASH2Lchr8

37971805

+MGME1chr20

17968809

+
Frame-shitENST00000250635ENST00000377710ASH2Lchr8

37971805

+MGME1chr20

17968809

+
Frame-shitENST00000250635ENST00000377709ASH2Lchr8

37971805

+MGME1chr20

17968809

+
5CDS-intronENST00000250635ENST00000377704ASH2Lchr8

37971805

+MGME1chr20

17968809

+
5CDS-3UTRENST00000250635ENST00000467391ASH2Lchr8

37971805

+MGME1chr20

17968809

+
Frame-shitENST00000545394ENST00000377710ASH2Lchr8

37971805

+MGME1chr20

17968809

+
Frame-shitENST00000545394ENST00000377709ASH2Lchr8

37971805

+MGME1chr20

17968809

+
5CDS-intronENST00000545394ENST00000377704ASH2Lchr8

37971805

+MGME1chr20

17968809

+
5CDS-3UTRENST00000545394ENST00000467391ASH2Lchr8

37971805

+MGME1chr20

17968809

+
Frame-shitENST00000428278ENST00000377710ASH2Lchr8

37971805

+MGME1chr20

17968809

+
Frame-shitENST00000428278ENST00000377709ASH2Lchr8

37971805

+MGME1chr20

17968809

+
5CDS-intronENST00000428278ENST00000377704ASH2Lchr8

37971805

+MGME1chr20

17968809

+
5CDS-3UTRENST00000428278ENST00000467391ASH2Lchr8

37971805

+MGME1chr20

17968809

+
Frame-shitENST00000521652ENST00000377710ASH2Lchr8

37971805

+MGME1chr20

17968809

+
Frame-shitENST00000521652ENST00000377709ASH2Lchr8

37971805

+MGME1chr20

17968809

+
5CDS-intronENST00000521652ENST00000377704ASH2Lchr8

37971805

+MGME1chr20

17968809

+
5CDS-3UTRENST00000521652ENST00000467391ASH2Lchr8

37971805

+MGME1chr20

17968809

+
3UTR-3CDSENST00000524263ENST00000377710ASH2Lchr8

37971805

+MGME1chr20

17968809

+
3UTR-3CDSENST00000524263ENST00000377709ASH2Lchr8

37971805

+MGME1chr20

17968809

+
3UTR-intronENST00000524263ENST00000377704ASH2Lchr8

37971805

+MGME1chr20

17968809

+
3UTR-3UTRENST00000524263ENST00000467391ASH2Lchr8

37971805

+MGME1chr20

17968809

+

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FusionProtFeatures for ASH2L_MGME1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ASH2L

Q9UBL3

MGME1

Q9BQP7

Component of the Set1/Ash2 histone methyltransferase(HMT) complex, a complex that specifically methylates 'Lys-4' ofhistone H3, but not if the neighboring 'Lys-9' residue is alreadymethylated. As part of the MLL1/MLL complex it is involved inmethylation and dimethylation at 'Lys-4' of histone H3. Mayfunction as a transcriptional regulator. May play a role inhematopoiesis. {ECO:0000269|PubMed:12670868,ECO:0000269|PubMed:19556245}. Metal-dependent single-stranded DNA (ssDNA) exonucleaseinvolved in mitochondrial genome maintenance. Has preference for5'-3' exonuclease activity but is also capable of endoducleaseactivity on linear substrates. Necessary for maintenance of proper7S DNA levels. Probably involved in mitochondrial DNA (mtDNA)repair, possibly via the processing of displaced DNA containingOkazaki fragments during RNA-primed DNA synthesis on the laggingstrand or via processing of DNA flaps during long-patch baseexcision repair. Specifically binds 5-hydroxymethylcytosine(5hmC)-containing DNA in stem cells. {ECO:0000255|HAMAP-Rule:MF_03030, ECO:0000269|PubMed:23313956,ECO:0000269|PubMed:23358826}.

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 ASH2L_MGME1


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 ASH2L_MGME1


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
ASH2LDPY30, KMT2A, ASH2L, MEN1, RBBP5, WDR5, HCFC1, HCFC2, KMT2C, HIST3H3, UNC119, CXXC1, SETD1A, WDR82P1, KDM6A, PHF8, MYB, CHD8, CTNNB1, ZNF335, CCAR2, C11orf30, NCOA6, ZSCAN1, HIST1H3A, SRRM1, PAX7, MEF2D, SETD1B, PAXIP1, KMT2D, USF1, PAGR1, KMT2B, E2F1, E2F4, PRMT1, WDR82, PSMC5, PYGO2, CDC73, ESR1, KDM4B, BARD1, BRCA1, PPP1CC, KDM6B, SMAD9, WWP1, SENP3, PPARG, PKN1, EP300, TP53, MICU2, XPO1, FOXQ1, DNMT3L, CHD7, KMT2E, CCDC69, EPB41L5, FOXA1MGME1MAGEA11, CDCA5, MRPL46, HMGCL, ECSIT, OXLD1, SMC1A, FOXA1, TRIM45, MIPEP, LUZP1, POLG, FKBP4, THNSL1, WDHD1, CBLC, DLD


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 ASH2L_MGME1


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 ASH2L_MGME1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneMGME1C0013911Emaciation1CTD_human
TgeneMGME1C0029089Ophthalmoplegia1CTD_human
TgeneMGME1C0035229Respiratory Insufficiency1CTD_human
TgeneMGME1C0751651Mitochondrial Diseases1CTD_human
TgeneMGME1C3554462MITOCHONDRIAL DNA DEPLETION SYNDROME 111ORPHANET;UNIPROT