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Fusion gene ID: 12823 |
FusionGeneSummary for FAM50A_HK2 |
Fusion gene summary |
| Fusion gene information | Fusion gene name: FAM50A_HK2 | Fusion gene ID: 12823 | Hgene | Tgene | Gene symbol | FAM50A | HK2 | Gene ID | 9130 | 29911 |
| Gene name | family with sequence similarity 50 member A | hook microtubule tethering protein 2 | |
| Synonyms | 9F|DXS9928E|HXC-26|HXC26|XAP5 | HK2 | |
| Cytomap | Xq28 | 19p13.13 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein FAM50Aprotein XAP-5 | protein Hook homolog 2h-hook2hHK2hook homolog 2 | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q14320 | P52789 | |
| Ensembl transtripts involved in fusion gene | ENST00000393600, | ENST00000290573, ENST00000409174, | |
| Fusion gene scores | * DoF score | 4 X 4 X 1=16 | 2 X 2 X 2=8 |
| # samples | 4 | 2 | |
| ** MAII score | log2(4/16*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: FAM50A [Title/Abstract] AND HK2 [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 |
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 |
| ChiTaRS3.1 | Z46376 | FAM50A | chrX | 153674037 | - | HK2 | chr2 | 75061284 | + |
| * 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 | ENST00000393600 | ENST00000290573 | FAM50A | chrX | 153674037 | - | HK2 | chr2 | 75061284 | + |
| 5CDS-intron | ENST00000393600 | ENST00000409174 | FAM50A | chrX | 153674037 | - | HK2 | chr2 | 75061284 | + |
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FusionProtFeatures for FAM50A_HK2 |
Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| FAM50A | HK2 |