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Fusion gene ID: 12505 |
FusionGeneSummary for FAM120AOS_PLEC |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: FAM120AOS_PLEC | Fusion gene ID: 12505 | Hgene | Tgene | Gene symbol | FAM120AOS | PLEC | Gene ID | 158293 | 5339 |
| Gene name | family with sequence similarity 120A opposite strand | plectin | |
| Synonyms | C9orf10OS | EBS1|EBSMD|EBSND|EBSO|EBSOG|EBSPA|HD1|LGMD2Q|PCN|PLEC1|PLEC1b|PLTN | |
| Cytomap | 9q22.31 | 8q24.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | uncharacterized protein FAM120AOSFAM120A opposite strand protein | plectinhemidesmosomal protein 1plectin 1, intermediate filament binding protein 500kDa | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q5T036 | Q15149 | |
| Ensembl transtripts involved in fusion gene | ENST00000479094, ENST00000423591, ENST00000375412, | ENST00000345136, ENST00000357649, ENST00000354589, ENST00000398774, ENST00000322810, ENST00000354958, ENST00000356346, ENST00000436759, ENST00000527096, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 6 X 5 X 3=90 |
| # samples | 1 | 7 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(7/90*10)=-0.362570079384708 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: FAM120AOS [Title/Abstract] AND PLEC [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 |
| Tgene | PLEC | GO:0031581 | hemidesmosome assembly | 12482924 |
| 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 | AW753268 | FAM120AOS | chr9 | 96209250 | - | PLEC | chr8 | 144995640 | - |
| * 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 | ENST00000479094 | ENST00000345136 | FAM120AOS | chr9 | 96209250 | - | PLEC | chr8 | 144995640 | - |
| intron-3CDS | ENST00000479094 | ENST00000357649 | FAM120AOS | chr9 | 96209250 | - | PLEC | chr8 | 144995640 | - |
| intron-3CDS | ENST00000479094 | ENST00000354589 | FAM120AOS | chr9 | 96209250 | - | PLEC | chr8 | 144995640 | - |
| intron-3CDS | ENST00000479094 | ENST00000398774 | FAM120AOS | chr9 | 96209250 | - | PLEC | chr8 | 144995640 | - |
| intron-3CDS | ENST00000479094 | ENST00000322810 | FAM120AOS | chr9 | 96209250 | - | PLEC | chr8 | 144995640 | - |
| intron-3CDS | ENST00000479094 | ENST00000354958 | FAM120AOS | chr9 | 96209250 | - | PLEC | chr8 | 144995640 | - |
| intron-3CDS | ENST00000479094 | ENST00000356346 | FAM120AOS | chr9 | 96209250 | - | PLEC | chr8 | 144995640 | - |
| intron-3CDS | ENST00000479094 | ENST00000436759 | FAM120AOS | chr9 | 96209250 | - | PLEC | chr8 | 144995640 | - |
| intron-3CDS | ENST00000479094 | ENST00000527096 | FAM120AOS | chr9 | 96209250 | - | PLEC | chr8 | 144995640 | - |
| intron-3CDS | ENST00000423591 | ENST00000345136 | FAM120AOS | chr9 | 96209250 | - | PLEC | chr8 | 144995640 | - |
| intron-3CDS | ENST00000423591 | ENST00000357649 | FAM120AOS | chr9 | 96209250 | - | PLEC | chr8 | 144995640 | - |
| intron-3CDS | ENST00000423591 | ENST00000354589 | FAM120AOS | chr9 | 96209250 | - | PLEC | chr8 | 144995640 | - |
| intron-3CDS | ENST00000423591 | ENST00000398774 | FAM120AOS | chr9 | 96209250 | - | PLEC | chr8 | 144995640 | - |
| intron-3CDS | ENST00000423591 | ENST00000322810 | FAM120AOS | chr9 | 96209250 | - | PLEC | chr8 | 144995640 | - |
| intron-3CDS | ENST00000423591 | ENST00000354958 | FAM120AOS | chr9 | 96209250 | - | PLEC | chr8 | 144995640 | - |
| intron-3CDS | ENST00000423591 | ENST00000356346 | FAM120AOS | chr9 | 96209250 | - | PLEC | chr8 | 144995640 | - |
| intron-3CDS | ENST00000423591 | ENST00000436759 | FAM120AOS | chr9 | 96209250 | - | PLEC | chr8 | 144995640 | - |
| intron-3CDS | ENST00000423591 | ENST00000527096 | FAM120AOS | chr9 | 96209250 | - | PLEC | chr8 | 144995640 | - |
| intron-3CDS | ENST00000375412 | ENST00000345136 | FAM120AOS | chr9 | 96209250 | - | PLEC | chr8 | 144995640 | - |
| intron-3CDS | ENST00000375412 | ENST00000357649 | FAM120AOS | chr9 | 96209250 | - | PLEC | chr8 | 144995640 | - |
| intron-3CDS | ENST00000375412 | ENST00000354589 | FAM120AOS | chr9 | 96209250 | - | PLEC | chr8 | 144995640 | - |
| intron-3CDS | ENST00000375412 | ENST00000398774 | FAM120AOS | chr9 | 96209250 | - | PLEC | chr8 | 144995640 | - |
| intron-3CDS | ENST00000375412 | ENST00000322810 | FAM120AOS | chr9 | 96209250 | - | PLEC | chr8 | 144995640 | - |
| intron-3CDS | ENST00000375412 | ENST00000354958 | FAM120AOS | chr9 | 96209250 | - | PLEC | chr8 | 144995640 | - |
| intron-3CDS | ENST00000375412 | ENST00000356346 | FAM120AOS | chr9 | 96209250 | - | PLEC | chr8 | 144995640 | - |
| intron-3CDS | ENST00000375412 | ENST00000436759 | FAM120AOS | chr9 | 96209250 | - | PLEC | chr8 | 144995640 | - |
| intron-3CDS | ENST00000375412 | ENST00000527096 | FAM120AOS | chr9 | 96209250 | - | PLEC | chr8 | 144995640 | - |
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FusionProtFeatures for FAM120AOS_PLEC |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| FAM120AOS | PLEC |