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Fusion gene ID: 34850 |
FusionGeneSummary for SMC1A_GTPBP6 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SMC1A_GTPBP6 | Fusion gene ID: 34850 | Hgene | Tgene | Gene symbol | SMC1A | GTPBP6 | Gene ID | 8243 | 8225 |
| Gene name | structural maintenance of chromosomes 1A | GTP binding protein 6 (putative) | |
| Synonyms | CDLS2|DXS423E|SB1.8|SMC1|SMC1L1|SMC1alpha|SMCB | PGPL | |
| Cytomap | Xp11.22 | Xp22.33 and Yp11.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | structural maintenance of chromosomes protein 1ASMC protein 1ASMC-1-alphaSMC1 (structural maintenance of chromosomes 1, yeast)-like 1segregation of mitotic chromosomes 1 | putative GTP-binding protein 6 | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | Q14683 | O43824 | |
| Ensembl transtripts involved in fusion gene | ENST00000322213, ENST00000469129, ENST00000375340, | ENST00000326153, | |
| Fusion gene scores | * DoF score | 5 X 5 X 4=100 | 1 X 1 X 1=1 |
| # samples | 6 | 1 | |
| ** MAII score | log2(6/100*10)=-0.736965594166206 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: SMC1A [Title/Abstract] AND GTPBP6 [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 | SMC1A | GO:0072423 | response to DNA damage checkpoint signaling | 11877377 |
| 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 | BRCA | TCGA-AO-A0JE-01A | SMC1A | chrX | 53421698 | - | GTPBP6 | chrY | 171864 | - |
| * 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 | ENST00000322213 | ENST00000326153 | SMC1A | chrX | 53421698 | - | GTPBP6 | chrY | 171864 | - |
| intron-3CDS | ENST00000469129 | ENST00000326153 | SMC1A | chrX | 53421698 | - | GTPBP6 | chrY | 171864 | - |
| intron-3CDS | ENST00000375340 | ENST00000326153 | SMC1A | chrX | 53421698 | - | GTPBP6 | chrY | 171864 | - |
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FusionProtFeatures for SMC1A_GTPBP6 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SMC1A | GTPBP6 |