|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 4332 |
FusionGeneSummary for BPTF_ABCC3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: BPTF_ABCC3 | Fusion gene ID: 4332 | Hgene | Tgene | Gene symbol | BPTF | ABCC3 | Gene ID | 2186 | 8714 |
| Gene name | bromodomain PHD finger transcription factor | ATP binding cassette subfamily C member 3 | |
| Synonyms | FAC1|FALZ|NEDDFL|NURF301 | ABC31|EST90757|MLP2|MOAT-D|MRP3|cMOAT2 | |
| Cytomap | 17q24.2 | 17q21.33 | |
| Type of gene | protein-coding | protein-coding | |
| Description | nucleosome-remodeling factor subunit BPTFbromodomain and PHD domain transcription factorbromodomain and PHD finger-containing transcription factorfetal Alz-50 clone 1 proteinfetal Alz-50 reactive clone 1fetal Alzheimer antigennucleosome remodeling f | canalicular multispecific organic anion transporter 2ATP-binding cassette sub-family C member 3ATP-binding cassette, sub-family C (CFTR/MRP), member 3canicular multispecific organic anion transportermulti-specific organic anion transporter Dmultidrug | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q12830 | O15438 | |
| Ensembl transtripts involved in fusion gene | ENST00000335221, ENST00000321892, ENST00000306378, ENST00000424123, ENST00000577770, | ENST00000285238, ENST00000515707, ENST00000427699, ENST00000510891, | |
| Fusion gene scores | * DoF score | 20 X 16 X 10=3200 | 7 X 8 X 3=168 |
| # samples | 25 | 11 | |
| ** MAII score | log2(25/3200*10)=-3.67807190511264 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(11/168*10)=-0.610957709254101 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: BPTF [Title/Abstract] AND ABCC3 [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 | BPTF | GO:0000122 | negative regulation of transcription by RNA polymerase II | 10727212 |
| Hgene | BPTF | GO:0006338 | chromatin remodeling | 14609955 |
| 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 | BRCA | TCGA-D8-A27N-01A | BPTF | chr17 | 65850878 | + | ABCC3 | chr17 | 48733193 | + |
| * 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 |
| Frame-shift | ENST00000335221 | ENST00000285238 | BPTF | chr17 | 65850878 | + | ABCC3 | chr17 | 48733193 | + |
| 5CDS-intron | ENST00000335221 | ENST00000515707 | BPTF | chr17 | 65850878 | + | ABCC3 | chr17 | 48733193 | + |
| 5CDS-intron | ENST00000335221 | ENST00000427699 | BPTF | chr17 | 65850878 | + | ABCC3 | chr17 | 48733193 | + |
| 5CDS-intron | ENST00000335221 | ENST00000510891 | BPTF | chr17 | 65850878 | + | ABCC3 | chr17 | 48733193 | + |
| Frame-shift | ENST00000321892 | ENST00000285238 | BPTF | chr17 | 65850878 | + | ABCC3 | chr17 | 48733193 | + |
| 5CDS-intron | ENST00000321892 | ENST00000515707 | BPTF | chr17 | 65850878 | + | ABCC3 | chr17 | 48733193 | + |
| 5CDS-intron | ENST00000321892 | ENST00000427699 | BPTF | chr17 | 65850878 | + | ABCC3 | chr17 | 48733193 | + |
| 5CDS-intron | ENST00000321892 | ENST00000510891 | BPTF | chr17 | 65850878 | + | ABCC3 | chr17 | 48733193 | + |
| Frame-shift | ENST00000306378 | ENST00000285238 | BPTF | chr17 | 65850878 | + | ABCC3 | chr17 | 48733193 | + |
| 5CDS-intron | ENST00000306378 | ENST00000515707 | BPTF | chr17 | 65850878 | + | ABCC3 | chr17 | 48733193 | + |
| 5CDS-intron | ENST00000306378 | ENST00000427699 | BPTF | chr17 | 65850878 | + | ABCC3 | chr17 | 48733193 | + |
| 5CDS-intron | ENST00000306378 | ENST00000510891 | BPTF | chr17 | 65850878 | + | ABCC3 | chr17 | 48733193 | + |
| Frame-shift | ENST00000424123 | ENST00000285238 | BPTF | chr17 | 65850878 | + | ABCC3 | chr17 | 48733193 | + |
| 5CDS-intron | ENST00000424123 | ENST00000515707 | BPTF | chr17 | 65850878 | + | ABCC3 | chr17 | 48733193 | + |
| 5CDS-intron | ENST00000424123 | ENST00000427699 | BPTF | chr17 | 65850878 | + | ABCC3 | chr17 | 48733193 | + |
| 5CDS-intron | ENST00000424123 | ENST00000510891 | BPTF | chr17 | 65850878 | + | ABCC3 | chr17 | 48733193 | + |
| intron-3CDS | ENST00000577770 | ENST00000285238 | BPTF | chr17 | 65850878 | + | ABCC3 | chr17 | 48733193 | + |
| intron-intron | ENST00000577770 | ENST00000515707 | BPTF | chr17 | 65850878 | + | ABCC3 | chr17 | 48733193 | + |
| intron-intron | ENST00000577770 | ENST00000427699 | BPTF | chr17 | 65850878 | + | ABCC3 | chr17 | 48733193 | + |
| intron-intron | ENST00000577770 | ENST00000510891 | BPTF | chr17 | 65850878 | + | ABCC3 | chr17 | 48733193 | + |
Top |
FusionProtFeatures for BPTF_ABCC3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| BPTF | ABCC3 |