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Fusion gene ID: 6596 |
FusionGeneSummary for CDKAL1_ASH1L |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CDKAL1_ASH1L | Fusion gene ID: 6596 | Hgene | Tgene | Gene symbol | CDKAL1 | ASH1L | Gene ID | 54901 | 55870 |
| Gene name | CDK5 regulatory subunit associated protein 1 like 1 | ASH1 like histone lysine methyltransferase | |
| Synonyms | - | ASH1|ASH1L1|KMT2H|MRD52 | |
| Cytomap | 6p22.3 | 1q22 | |
| Type of gene | protein-coding | protein-coding | |
| Description | threonylcarbamoyladenosine tRNA methylthiotransferasetRNA-t(6)A37 methylthiotransferase | 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 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q5VV42 | Q9NR48 | |
| Ensembl transtripts involved in fusion gene | ENST00000274695, ENST00000378624, ENST00000378610, ENST00000476517, | ENST00000368346, ENST00000392403, ENST00000548830, | |
| Fusion gene scores | * DoF score | 23 X 12 X 11=3036 | 9 X 8 X 5=360 |
| # samples | 22 | 9 | |
| ** MAII score | log2(22/3036*10)=-3.78659636189081 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(9/360*10)=-2 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CDKAL1 [Title/Abstract] AND ASH1L [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Transcription factor involved fusion gene, inframe and retained DNA-binding domain. | ||
| * 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 |
| Tgene | 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 | LUSC | TCGA-33-4587-01A | CDKAL1 | chr6 | 20846409 | + | ASH1L | chr1 | 155349907 | - |
| * 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 |
| In-frame | ENST00000274695 | ENST00000368346 | CDKAL1 | chr6 | 20846409 | + | ASH1L | chr1 | 155349907 | - |
| In-frame | ENST00000274695 | ENST00000392403 | CDKAL1 | chr6 | 20846409 | + | ASH1L | chr1 | 155349907 | - |
| 5CDS-intron | ENST00000274695 | ENST00000548830 | CDKAL1 | chr6 | 20846409 | + | ASH1L | chr1 | 155349907 | - |
| In-frame | ENST00000378624 | ENST00000368346 | CDKAL1 | chr6 | 20846409 | + | ASH1L | chr1 | 155349907 | - |
| In-frame | ENST00000378624 | ENST00000392403 | CDKAL1 | chr6 | 20846409 | + | ASH1L | chr1 | 155349907 | - |
| 5CDS-intron | ENST00000378624 | ENST00000548830 | CDKAL1 | chr6 | 20846409 | + | ASH1L | chr1 | 155349907 | - |
| In-frame | ENST00000378610 | ENST00000368346 | CDKAL1 | chr6 | 20846409 | + | ASH1L | chr1 | 155349907 | - |
| In-frame | ENST00000378610 | ENST00000392403 | CDKAL1 | chr6 | 20846409 | + | ASH1L | chr1 | 155349907 | - |
| 5CDS-intron | ENST00000378610 | ENST00000548830 | CDKAL1 | chr6 | 20846409 | + | ASH1L | chr1 | 155349907 | - |
| intron-3CDS | ENST00000476517 | ENST00000368346 | CDKAL1 | chr6 | 20846409 | + | ASH1L | chr1 | 155349907 | - |
| intron-3CDS | ENST00000476517 | ENST00000392403 | CDKAL1 | chr6 | 20846409 | + | ASH1L | chr1 | 155349907 | - |
| intron-intron | ENST00000476517 | ENST00000548830 | CDKAL1 | chr6 | 20846409 | + | ASH1L | chr1 | 155349907 | - |
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FusionProtFeatures for CDKAL1_ASH1L |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CDKAL1 | ASH1L |