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Fusion gene ID: 2968 |
FusionGeneSummary for ASH1L_PKLR |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ASH1L_PKLR | Fusion gene ID: 2968 | Hgene | Tgene | Gene symbol | ASH1L | PKLR | Gene ID | 55870 | 5313 |
| Gene name | ASH1 like histone lysine methyltransferase | pyruvate kinase L/R | |
| Synonyms | ASH1|ASH1L1|KMT2H|MRD52 | PK1|PKL|PKR|PKRL|RPK | |
| Cytomap | 1q22 | 1q22 | |
| 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 | pyruvate kinase PKLRR-type/L-type pyruvate kinasepyruvate kinase 1pyruvate kinase isozyme R/Lpyruvate kinase isozymes L/Rpyruvate kinase isozymes R/Lpyruvate kinase type Lpyruvate kinase, liver and RBCpyruvate kinase, liver and blood cellred cell | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q9NR48 | P30613 | |
| Ensembl transtripts involved in fusion gene | ENST00000368346, ENST00000392403, ENST00000548830, | ENST00000392414, ENST00000342741, | |
| Fusion gene scores | * DoF score | 27 X 14 X 13=4914 | 2 X 2 X 2=8 |
| # samples | 30 | 2 | |
| ** MAII score | log2(30/4914*10)=-4.03386345186628 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: ASH1L [Title/Abstract] AND PKLR [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 | LD | BLCA | TCGA-K4-A5RH-01A | ASH1L | chr1 | 155531944 | - | PKLR | chr1 | 155271207 | - |
| * 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 |
| 5UTR-intron | ENST00000368346 | ENST00000392414 | ASH1L | chr1 | 155531944 | - | PKLR | chr1 | 155271207 | - |
| 5UTR-5UTR | ENST00000368346 | ENST00000342741 | ASH1L | chr1 | 155531944 | - | PKLR | chr1 | 155271207 | - |
| 5UTR-intron | ENST00000392403 | ENST00000392414 | ASH1L | chr1 | 155531944 | - | PKLR | chr1 | 155271207 | - |
| 5UTR-5UTR | ENST00000392403 | ENST00000342741 | ASH1L | chr1 | 155531944 | - | PKLR | chr1 | 155271207 | - |
| 5UTR-intron | ENST00000548830 | ENST00000392414 | ASH1L | chr1 | 155531944 | - | PKLR | chr1 | 155271207 | - |
| 5UTR-5UTR | ENST00000548830 | ENST00000342741 | ASH1L | chr1 | 155531944 | - | PKLR | chr1 | 155271207 | - |
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FusionProtFeatures for ASH1L_PKLR |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ASH1L | PKLR |