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Fusion gene ID: 22172 |
FusionGeneSummary for MLLT3_TYRP1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MLLT3_TYRP1 | Fusion gene ID: 22172 | Hgene | Tgene | Gene symbol | MLLT3 | TYRP1 | Gene ID | 4300 | 7306 |
| Gene name | MLLT3, super elongation complex subunit | tyrosinase related protein 1 | |
| Synonyms | AF9|YEATS3 | CAS2|CATB|GP75|OCA3|TRP|TRP1|TYRP|b-PROTEIN | |
| Cytomap | 9p21.3 | 9p23 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein AF-9ALL1-fused gene from chromosome 9 proteinYEATS domain-containing protein 3myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog); translocated to, 3myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translo | 5,6-dihydroxyindole-2-carboxylic acid oxidaseDHICA oxidasecatalase Bglycoprotein 75melanoma antigen gp75 | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | P42568 | P17643 | |
| Ensembl transtripts involved in fusion gene | ENST00000380338, ENST00000355930, ENST00000429426, ENST00000475957, ENST00000380321, | ENST00000381137, ENST00000388918, ENST00000381136, ENST00000473504, | |
| Fusion gene scores | * DoF score | 10 X 8 X 8=640 | 5 X 1 X 3=15 |
| # samples | 16 | 5 | |
| ** MAII score | log2(16/640*10)=-2 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/15*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: MLLT3 [Title/Abstract] AND TYRP1 [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 | MLLT3 | GO:0045893 | positive regulation of transcription, DNA-templated | 25417107|27105114 |
| Hgene | MLLT3 | GO:0090090 | negative regulation of canonical Wnt signaling pathway | 19591803 |
| 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 | LGG | TCGA-VM-A8C8-01A | MLLT3 | chr9 | 20456702 | - | TYRP1 | chr9 | 12693912 | + |
| * 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 | ENST00000380338 | ENST00000381137 | MLLT3 | chr9 | 20456702 | - | TYRP1 | chr9 | 12693912 | + |
| 5CDS-5UTR | ENST00000380338 | ENST00000388918 | MLLT3 | chr9 | 20456702 | - | TYRP1 | chr9 | 12693912 | + |
| 5CDS-intron | ENST00000380338 | ENST00000381136 | MLLT3 | chr9 | 20456702 | - | TYRP1 | chr9 | 12693912 | + |
| 5CDS-intron | ENST00000380338 | ENST00000473504 | MLLT3 | chr9 | 20456702 | - | TYRP1 | chr9 | 12693912 | + |
| 5UTR-5UTR | ENST00000355930 | ENST00000381137 | MLLT3 | chr9 | 20456702 | - | TYRP1 | chr9 | 12693912 | + |
| 5UTR-5UTR | ENST00000355930 | ENST00000388918 | MLLT3 | chr9 | 20456702 | - | TYRP1 | chr9 | 12693912 | + |
| 5UTR-intron | ENST00000355930 | ENST00000381136 | MLLT3 | chr9 | 20456702 | - | TYRP1 | chr9 | 12693912 | + |
| 5UTR-intron | ENST00000355930 | ENST00000473504 | MLLT3 | chr9 | 20456702 | - | TYRP1 | chr9 | 12693912 | + |
| 5CDS-5UTR | ENST00000429426 | ENST00000381137 | MLLT3 | chr9 | 20456702 | - | TYRP1 | chr9 | 12693912 | + |
| 5CDS-5UTR | ENST00000429426 | ENST00000388918 | MLLT3 | chr9 | 20456702 | - | TYRP1 | chr9 | 12693912 | + |
| 5CDS-intron | ENST00000429426 | ENST00000381136 | MLLT3 | chr9 | 20456702 | - | TYRP1 | chr9 | 12693912 | + |
| 5CDS-intron | ENST00000429426 | ENST00000473504 | MLLT3 | chr9 | 20456702 | - | TYRP1 | chr9 | 12693912 | + |
| intron-5UTR | ENST00000475957 | ENST00000381137 | MLLT3 | chr9 | 20456702 | - | TYRP1 | chr9 | 12693912 | + |
| intron-5UTR | ENST00000475957 | ENST00000388918 | MLLT3 | chr9 | 20456702 | - | TYRP1 | chr9 | 12693912 | + |
| intron-intron | ENST00000475957 | ENST00000381136 | MLLT3 | chr9 | 20456702 | - | TYRP1 | chr9 | 12693912 | + |
| intron-intron | ENST00000475957 | ENST00000473504 | MLLT3 | chr9 | 20456702 | - | TYRP1 | chr9 | 12693912 | + |
| intron-5UTR | ENST00000380321 | ENST00000381137 | MLLT3 | chr9 | 20456702 | - | TYRP1 | chr9 | 12693912 | + |
| intron-5UTR | ENST00000380321 | ENST00000388918 | MLLT3 | chr9 | 20456702 | - | TYRP1 | chr9 | 12693912 | + |
| intron-intron | ENST00000380321 | ENST00000381136 | MLLT3 | chr9 | 20456702 | - | TYRP1 | chr9 | 12693912 | + |
| intron-intron | ENST00000380321 | ENST00000473504 | MLLT3 | chr9 | 20456702 | - | TYRP1 | chr9 | 12693912 | + |
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FusionProtFeatures for MLLT3_TYRP1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MLLT3 | TYRP1 |