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Fusion gene ID: 2962 |
FusionGeneSummary for ASH1L_GATAD2B |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ASH1L_GATAD2B | Fusion gene ID: 2962 | Hgene | Tgene | Gene symbol | ASH1L | GATAD2B | Gene ID | 55870 | 57459 |
| Gene name | ASH1 like histone lysine methyltransferase | GATA zinc finger domain containing 2B | |
| Synonyms | ASH1|ASH1L1|KMT2H|MRD52 | MRD18|P66beta|p68 | |
| Cytomap | 1q22 | 1q21.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | histone-lysine N-methyltransferase ASH1LASH1-like proteinabsent small and homeotic disks protein 1 homologash1 (absent, small, or homeotic)-likelysine N-methyltransferase 2Hprobable histone-lysine N-methyltransferase ASH1L | transcriptional repressor p66-betaGATA zinc finger domain-containing protein 2Btranscription repressor p66 beta component of the MeCP1 complex | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q9NR48 | Q8WXI9 | |
| Ensembl transtripts involved in fusion gene | ENST00000368346, ENST00000392403, ENST00000548830, | ENST00000368655, | |
| Fusion gene scores | * DoF score | 27 X 14 X 13=4914 | 7 X 6 X 3=126 |
| # samples | 30 | 7 | |
| ** MAII score | log2(30/4914*10)=-4.03386345186628 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/126*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ASH1L [Title/Abstract] AND GATAD2B [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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | ASH1L | GO:0097676 | histone H3-K36 dimethylation | 26002201 |
| 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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | RV | BRCA | TCGA-A8-A090-01A | ASH1L | chr1 | 155490891 | - | GATAD2B | chr1 | 153800824 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| 5CDS-5UTR | ENST00000368346 | ENST00000368655 | ASH1L | chr1 | 155490891 | - | GATAD2B | chr1 | 153800824 | - |
| 5CDS-5UTR | ENST00000392403 | ENST00000368655 | ASH1L | chr1 | 155490891 | - | GATAD2B | chr1 | 153800824 | - |
| 5CDS-5UTR | ENST00000548830 | ENST00000368655 | ASH1L | chr1 | 155490891 | - | GATAD2B | chr1 | 153800824 | - |
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FusionProtFeatures for ASH1L_GATAD2B |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ASH1L | GATAD2B |