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Fusion gene ID: 2986 |
FusionGeneSummary for ASH2L_MGME1 |
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Fusion gene information | Fusion gene name: ASH2L_MGME1 | Fusion gene ID: 2986 | Hgene | Tgene | Gene symbol | ASH2L | MGME1 | Gene ID | 9070 | 92667 |
Gene name | ASH2 like, histone lysine methyltransferase complex subunit | mitochondrial genome maintenance exonuclease 1 | |
Synonyms | ASH2|ASH2L1|ASH2L2|Bre2 | C20orf72|DDK1|MTDPS11|bA504H3.4 | |
Cytomap | 8p11.23 | 20p11.23 | |
Type of gene | protein-coding | protein-coding | |
Description | set1/Ash2 histone methyltransferase complex subunit ASH2ASH2-like proteinash2 (absent, small, or homeotic)-like | mitochondrial genome maintenance exonuclease 1 | |
Modification date | 20180523 | 20180526 | |
UniProtAcc | Q9UBL3 | Q9BQP7 | |
Ensembl transtripts involved in fusion gene | ENST00000343823, ENST00000250635, ENST00000545394, ENST00000428278, ENST00000521652, ENST00000524263, | ENST00000377710, ENST00000377709, ENST00000377704, ENST00000467391, | |
Fusion gene scores | * DoF score | 8 X 6 X 5=240 | 3 X 2 X 2=12 |
# samples | 8 | 3 | |
** MAII score | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | ASH2L | GO:0006974 | cellular response to DNA damage stimulus | 17500065 |
Hgene | ASH2L | GO:0043627 | response to estrogen | 16603732 |
Hgene | ASH2L | GO:0051568 | histone H3-K4 methylation | 17355966|19556245 |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | LD | BRCA | TCGA-E2-A15A-01A | ASH2L | chr8 | 37971805 | + | MGME1 | chr20 | 17968809 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
Frame-shift | ENST00000343823 | ENST00000377710 | ASH2L | chr8 | 37971805 | + | MGME1 | chr20 | 17968809 | + |
Frame-shift | ENST00000343823 | ENST00000377709 | ASH2L | chr8 | 37971805 | + | MGME1 | chr20 | 17968809 | + |
5CDS-intron | ENST00000343823 | ENST00000377704 | ASH2L | chr8 | 37971805 | + | MGME1 | chr20 | 17968809 | + |
5CDS-3UTR | ENST00000343823 | ENST00000467391 | ASH2L | chr8 | 37971805 | + | MGME1 | chr20 | 17968809 | + |
Frame-shift | ENST00000250635 | ENST00000377710 | ASH2L | chr8 | 37971805 | + | MGME1 | chr20 | 17968809 | + |
Frame-shift | ENST00000250635 | ENST00000377709 | ASH2L | chr8 | 37971805 | + | MGME1 | chr20 | 17968809 | + |
5CDS-intron | ENST00000250635 | ENST00000377704 | ASH2L | chr8 | 37971805 | + | MGME1 | chr20 | 17968809 | + |
5CDS-3UTR | ENST00000250635 | ENST00000467391 | ASH2L | chr8 | 37971805 | + | MGME1 | chr20 | 17968809 | + |
Frame-shift | ENST00000545394 | ENST00000377710 | ASH2L | chr8 | 37971805 | + | MGME1 | chr20 | 17968809 | + |
Frame-shift | ENST00000545394 | ENST00000377709 | ASH2L | chr8 | 37971805 | + | MGME1 | chr20 | 17968809 | + |
5CDS-intron | ENST00000545394 | ENST00000377704 | ASH2L | chr8 | 37971805 | + | MGME1 | chr20 | 17968809 | + |
5CDS-3UTR | ENST00000545394 | ENST00000467391 | ASH2L | chr8 | 37971805 | + | MGME1 | chr20 | 17968809 | + |
Frame-shift | ENST00000428278 | ENST00000377710 | ASH2L | chr8 | 37971805 | + | MGME1 | chr20 | 17968809 | + |
Frame-shift | ENST00000428278 | ENST00000377709 | ASH2L | chr8 | 37971805 | + | MGME1 | chr20 | 17968809 | + |
5CDS-intron | ENST00000428278 | ENST00000377704 | ASH2L | chr8 | 37971805 | + | MGME1 | chr20 | 17968809 | + |
5CDS-3UTR | ENST00000428278 | ENST00000467391 | ASH2L | chr8 | 37971805 | + | MGME1 | chr20 | 17968809 | + |
Frame-shift | ENST00000521652 | ENST00000377710 | ASH2L | chr8 | 37971805 | + | MGME1 | chr20 | 17968809 | + |
Frame-shift | ENST00000521652 | ENST00000377709 | ASH2L | chr8 | 37971805 | + | MGME1 | chr20 | 17968809 | + |
5CDS-intron | ENST00000521652 | ENST00000377704 | ASH2L | chr8 | 37971805 | + | MGME1 | chr20 | 17968809 | + |
5CDS-3UTR | ENST00000521652 | ENST00000467391 | ASH2L | chr8 | 37971805 | + | MGME1 | chr20 | 17968809 | + |
3UTR-3CDS | ENST00000524263 | ENST00000377710 | ASH2L | chr8 | 37971805 | + | MGME1 | chr20 | 17968809 | + |
3UTR-3CDS | ENST00000524263 | ENST00000377709 | ASH2L | chr8 | 37971805 | + | MGME1 | chr20 | 17968809 | + |
3UTR-intron | ENST00000524263 | ENST00000377704 | ASH2L | chr8 | 37971805 | + | MGME1 | chr20 | 17968809 | + |
3UTR-3UTR | ENST00000524263 | ENST00000467391 | ASH2L | chr8 | 37971805 | + | MGME1 | chr20 | 17968809 | + |
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FusionProtFeatures for ASH2L_MGME1 |
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Hgene | Tgene |
ASH2L | MGME1 |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for ASH2L_MGME1 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
ASH2L | DPY30, 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, FOXA1 | MGME1 | MAGEA11, CDCA5, MRPL46, HMGCL, ECSIT, OXLD1, SMC1A, FOXA1, TRIM45, MIPEP, LUZP1, POLG, FKBP4, THNSL1, WDHD1, CBLC, DLD |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for ASH2L_MGME1 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for ASH2L_MGME1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | MGME1 | C0013911 | Emaciation | 1 | CTD_human |
Tgene | MGME1 | C0029089 | Ophthalmoplegia | 1 | CTD_human |
Tgene | MGME1 | C0035229 | Respiratory Insufficiency | 1 | CTD_human |
Tgene | MGME1 | C0751651 | Mitochondrial Diseases | 1 | CTD_human |
Tgene | MGME1 | C3554462 | MITOCHONDRIAL DNA DEPLETION SYNDROME 11 | 1 | ORPHANET;UNIPROT |