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Fusion gene ID: 7028 |
FusionGeneSummary for CHD8_KIAA1211 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CHD8_KIAA1211 | Fusion gene ID: 7028 | Hgene | Tgene | Gene symbol | CHD8 | KIAA1211 | Gene ID | 57680 | 57482 |
| Gene name | chromodomain helicase DNA binding protein 8 | KIAA1211 | |
| Synonyms | AUTS18|HELSNF1 | - | |
| Cytomap | 14q11.2 | 4q12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | chromodomain-helicase-DNA-binding protein 8ATP-dependent helicase CHD8axis duplication inhibitorduplinhelicase with SNF2 domain 1 | uncharacterized protein KIAA1211 | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | Q9HCK8 | Q6ZU35 | |
| Ensembl transtripts involved in fusion gene | ENST00000430710, ENST00000399982, ENST00000557364, ENST00000555962, | ENST00000264229, ENST00000541073, ENST00000504228, ENST00000505410, | |
| Fusion gene scores | * DoF score | 9 X 8 X 8=576 | 6 X 4 X 4=96 |
| # samples | 11 | 6 | |
| ** MAII score | log2(11/576*10)=-2.38856528791765 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/96*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CHD8 [Title/Abstract] AND KIAA1211 [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 | CHD8 | GO:0030178 | negative regulation of Wnt signaling pathway | 18378692 |
| Hgene | CHD8 | GO:0045893 | positive regulation of transcription, DNA-templated | 17938208 |
| Hgene | CHD8 | GO:0060070 | canonical Wnt signaling pathway | 18378692 |
| Hgene | CHD8 | GO:0090090 | negative regulation of canonical Wnt signaling pathway | 22083958 |
| 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-DU-7302-01A | CHD8 | chr14 | 21924191 | - | KIAA1211 | chr4 | 57045450 | + |
| * 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 |
| intron-5UTR | ENST00000430710 | ENST00000264229 | CHD8 | chr14 | 21924191 | - | KIAA1211 | chr4 | 57045450 | + |
| intron-intron | ENST00000430710 | ENST00000541073 | CHD8 | chr14 | 21924191 | - | KIAA1211 | chr4 | 57045450 | + |
| intron-intron | ENST00000430710 | ENST00000504228 | CHD8 | chr14 | 21924191 | - | KIAA1211 | chr4 | 57045450 | + |
| intron-intron | ENST00000430710 | ENST00000505410 | CHD8 | chr14 | 21924191 | - | KIAA1211 | chr4 | 57045450 | + |
| intron-5UTR | ENST00000399982 | ENST00000264229 | CHD8 | chr14 | 21924191 | - | KIAA1211 | chr4 | 57045450 | + |
| intron-intron | ENST00000399982 | ENST00000541073 | CHD8 | chr14 | 21924191 | - | KIAA1211 | chr4 | 57045450 | + |
| intron-intron | ENST00000399982 | ENST00000504228 | CHD8 | chr14 | 21924191 | - | KIAA1211 | chr4 | 57045450 | + |
| intron-intron | ENST00000399982 | ENST00000505410 | CHD8 | chr14 | 21924191 | - | KIAA1211 | chr4 | 57045450 | + |
| 5UTR-5UTR | ENST00000557364 | ENST00000264229 | CHD8 | chr14 | 21924191 | - | KIAA1211 | chr4 | 57045450 | + |
| 5UTR-intron | ENST00000557364 | ENST00000541073 | CHD8 | chr14 | 21924191 | - | KIAA1211 | chr4 | 57045450 | + |
| 5UTR-intron | ENST00000557364 | ENST00000504228 | CHD8 | chr14 | 21924191 | - | KIAA1211 | chr4 | 57045450 | + |
| 5UTR-intron | ENST00000557364 | ENST00000505410 | CHD8 | chr14 | 21924191 | - | KIAA1211 | chr4 | 57045450 | + |
| intron-5UTR | ENST00000555962 | ENST00000264229 | CHD8 | chr14 | 21924191 | - | KIAA1211 | chr4 | 57045450 | + |
| intron-intron | ENST00000555962 | ENST00000541073 | CHD8 | chr14 | 21924191 | - | KIAA1211 | chr4 | 57045450 | + |
| intron-intron | ENST00000555962 | ENST00000504228 | CHD8 | chr14 | 21924191 | - | KIAA1211 | chr4 | 57045450 | + |
| intron-intron | ENST00000555962 | ENST00000505410 | CHD8 | chr14 | 21924191 | - | KIAA1211 | chr4 | 57045450 | + |
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FusionProtFeatures for CHD8_KIAA1211 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CHD8 | KIAA1211 |