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Fusion gene ID: 16121 |
FusionGeneSummary for HES4_AFF1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: HES4_AFF1 | Fusion gene ID: 16121 | Hgene | Tgene | Gene symbol | HES4 | AFF1 | Gene ID | 57801 | 4299 |
| Gene name | hes family bHLH transcription factor 4 | AF4/FMR2 family member 1 | |
| Synonyms | bHLHb42 | AF4|MLLT2|PBM1 | |
| Cytomap | 1p36.33 | 4q21.3-q22.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | transcription factor HES-4bHLH factor Hes4class B basic helix-loop-helix protein 42hHES4hairy and enhancer of split 4 | AF4/FMR2 family member 1ALL1-fused gene from chromosome 4 proteinmyeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 2pre-B-cell monocytic leukemia partner 1proto-oncogene AF4 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9HCC6 | P51825 | |
| Ensembl transtripts involved in fusion gene | ENST00000428771, ENST00000304952, ENST00000484667, | ENST00000395146, ENST00000307808, ENST00000544085, ENST00000511996, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 10 X 25 X 4=1000 |
| # samples | 1 | 31 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(31/1000*10)=-1.68965987938785 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: HES4 [Title/Abstract] AND AFF1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Oncogene involved fusion gene, in-frame and retained their 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 |
| 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 | KIRC | TCGA-A3-3373-01A | HES4 | chr1 | 935072 | - | AFF1 | chr4 | 88005272 | + |
| * 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 | ENST00000428771 | ENST00000395146 | HES4 | chr1 | 935072 | - | AFF1 | chr4 | 88005272 | + |
| In-frame | ENST00000428771 | ENST00000307808 | HES4 | chr1 | 935072 | - | AFF1 | chr4 | 88005272 | + |
| 5CDS-5UTR | ENST00000428771 | ENST00000544085 | HES4 | chr1 | 935072 | - | AFF1 | chr4 | 88005272 | + |
| 5CDS-intron | ENST00000428771 | ENST00000511996 | HES4 | chr1 | 935072 | - | AFF1 | chr4 | 88005272 | + |
| In-frame | ENST00000304952 | ENST00000395146 | HES4 | chr1 | 935072 | - | AFF1 | chr4 | 88005272 | + |
| In-frame | ENST00000304952 | ENST00000307808 | HES4 | chr1 | 935072 | - | AFF1 | chr4 | 88005272 | + |
| 5CDS-5UTR | ENST00000304952 | ENST00000544085 | HES4 | chr1 | 935072 | - | AFF1 | chr4 | 88005272 | + |
| 5CDS-intron | ENST00000304952 | ENST00000511996 | HES4 | chr1 | 935072 | - | AFF1 | chr4 | 88005272 | + |
| intron-3CDS | ENST00000484667 | ENST00000395146 | HES4 | chr1 | 935072 | - | AFF1 | chr4 | 88005272 | + |
| intron-3CDS | ENST00000484667 | ENST00000307808 | HES4 | chr1 | 935072 | - | AFF1 | chr4 | 88005272 | + |
| intron-5UTR | ENST00000484667 | ENST00000544085 | HES4 | chr1 | 935072 | - | AFF1 | chr4 | 88005272 | + |
| intron-intron | ENST00000484667 | ENST00000511996 | HES4 | chr1 | 935072 | - | AFF1 | chr4 | 88005272 | + |
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FusionProtFeatures for HES4_AFF1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| HES4 | AFF1 |