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Fusion gene ID: 33873 |
FusionGeneSummary for SIL1_SMC1B |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SIL1_SMC1B | Fusion gene ID: 33873 | Hgene | Tgene | Gene symbol | SIL1 | SMC1B | Gene ID | 64374 | 27127 |
| Gene name | SIL1 nucleotide exchange factor | structural maintenance of chromosomes 1B | |
| Synonyms | BAP|MSS|ULG5 | SMC1BETA|SMC1L2 | |
| Cytomap | 5q31.2 | 22q13.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | nucleotide exchange factor SIL1BiP-associated proteinSIL1 homolog, endoplasmic reticulum chaperoneSIL1-like protein endoplasmic reticulum chaperone | structural maintenance of chromosomes protein 1BSMC protein 1BSMC1 (structural maintenance of chromosomes 1, yeast)-like 1SMC1 structural maintenance of chromosomes 1-like 2mitosis-specific chromosome segregation protein like protein beta | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q9H173 | Q8NDV3 | |
| Ensembl transtripts involved in fusion gene | ENST00000394817, ENST00000265195, ENST00000509534, ENST00000515008, | ENST00000357450, ENST00000404354, | |
| Fusion gene scores | * DoF score | 6 X 4 X 5=120 | 4 X 3 X 4=48 |
| # samples | 7 | 4 | |
| ** MAII score | log2(7/120*10)=-0.777607578663552 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SIL1 [Title/Abstract] AND SMC1B [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 |
| TCGA | RV | LUSC | TCGA-NC-A5HL-01A | SIL1 | chr5 | 138532130 | - | SMC1B | chr22 | 45779493 | - |
| * 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-3CDS | ENST00000394817 | ENST00000357450 | SIL1 | chr5 | 138532130 | - | SMC1B | chr22 | 45779493 | - |
| intron-3CDS | ENST00000394817 | ENST00000404354 | SIL1 | chr5 | 138532130 | - | SMC1B | chr22 | 45779493 | - |
| 5UTR-3CDS | ENST00000265195 | ENST00000357450 | SIL1 | chr5 | 138532130 | - | SMC1B | chr22 | 45779493 | - |
| 5UTR-3CDS | ENST00000265195 | ENST00000404354 | SIL1 | chr5 | 138532130 | - | SMC1B | chr22 | 45779493 | - |
| 5UTR-3CDS | ENST00000509534 | ENST00000357450 | SIL1 | chr5 | 138532130 | - | SMC1B | chr22 | 45779493 | - |
| 5UTR-3CDS | ENST00000509534 | ENST00000404354 | SIL1 | chr5 | 138532130 | - | SMC1B | chr22 | 45779493 | - |
| intron-3CDS | ENST00000515008 | ENST00000357450 | SIL1 | chr5 | 138532130 | - | SMC1B | chr22 | 45779493 | - |
| intron-3CDS | ENST00000515008 | ENST00000404354 | SIL1 | chr5 | 138532130 | - | SMC1B | chr22 | 45779493 | - |
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FusionProtFeatures for SIL1_SMC1B |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SIL1 | SMC1B |