|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 3123 |
FusionGeneSummary for ATF3_USH2A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ATF3_USH2A | Fusion gene ID: 3123 | Hgene | Tgene | Gene symbol | ATF3 | USH2A | Gene ID | 467 | 7399 |
| Gene name | activating transcription factor 3 | usherin | |
| Synonyms | - | RP39|US2|USH2|dJ1111A8.1 | |
| Cytomap | 1q32.3 | 1q41 | |
| Type of gene | protein-coding | protein-coding | |
| Description | cyclic AMP-dependent transcription factor ATF-3cAMP-dependent transcription factor ATF-3 | usherinUsher syndrome 2A (autosomal recessive, mild)usher syndrome type IIa proteinusher syndrome type-2A protein | |
| Modification date | 20180523 | 20180520 | |
| UniProtAcc | P18847 | O75445 | |
| Ensembl transtripts involved in fusion gene | ENST00000366987, ENST00000341491, ENST00000366985, ENST00000492118, ENST00000336937, ENST00000366983, | ENST00000366943, ENST00000307340, ENST00000366942, | |
| Fusion gene scores | * DoF score | 3 X 2 X 3=18 | 3 X 3 X 3=27 |
| # samples | 4 | 3 | |
| ** MAII score | log2(4/18*10)=1.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: ATF3 [Title/Abstract] AND USH2A [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, in-frame but not retained their domain. | ||
| * 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 | ATF3 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 8622660 |
| Hgene | ATF3 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 16300731 |
| Hgene | ATF3 | GO:1990440 | positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress | 24939851 |
| 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 | PRAD | TCGA-VN-A943-01A | ATF3 | chr1 | 212791576 | + | USH2A | chr1 | 216011445 | - |
| * 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 | ENST00000366987 | ENST00000366943 | ATF3 | chr1 | 212791576 | + | USH2A | chr1 | 216011445 | - |
| In-frame | ENST00000366987 | ENST00000307340 | ATF3 | chr1 | 212791576 | + | USH2A | chr1 | 216011445 | - |
| 5CDS-intron | ENST00000366987 | ENST00000366942 | ATF3 | chr1 | 212791576 | + | USH2A | chr1 | 216011445 | - |
| In-frame | ENST00000341491 | ENST00000366943 | ATF3 | chr1 | 212791576 | + | USH2A | chr1 | 216011445 | - |
| In-frame | ENST00000341491 | ENST00000307340 | ATF3 | chr1 | 212791576 | + | USH2A | chr1 | 216011445 | - |
| 5CDS-intron | ENST00000341491 | ENST00000366942 | ATF3 | chr1 | 212791576 | + | USH2A | chr1 | 216011445 | - |
| In-frame | ENST00000366985 | ENST00000366943 | ATF3 | chr1 | 212791576 | + | USH2A | chr1 | 216011445 | - |
| In-frame | ENST00000366985 | ENST00000307340 | ATF3 | chr1 | 212791576 | + | USH2A | chr1 | 216011445 | - |
| 5CDS-intron | ENST00000366985 | ENST00000366942 | ATF3 | chr1 | 212791576 | + | USH2A | chr1 | 216011445 | - |
| intron-3CDS | ENST00000492118 | ENST00000366943 | ATF3 | chr1 | 212791576 | + | USH2A | chr1 | 216011445 | - |
| intron-3CDS | ENST00000492118 | ENST00000307340 | ATF3 | chr1 | 212791576 | + | USH2A | chr1 | 216011445 | - |
| intron-intron | ENST00000492118 | ENST00000366942 | ATF3 | chr1 | 212791576 | + | USH2A | chr1 | 216011445 | - |
| In-frame | ENST00000336937 | ENST00000366943 | ATF3 | chr1 | 212791576 | + | USH2A | chr1 | 216011445 | - |
| In-frame | ENST00000336937 | ENST00000307340 | ATF3 | chr1 | 212791576 | + | USH2A | chr1 | 216011445 | - |
| 5CDS-intron | ENST00000336937 | ENST00000366942 | ATF3 | chr1 | 212791576 | + | USH2A | chr1 | 216011445 | - |
| In-frame | ENST00000366983 | ENST00000366943 | ATF3 | chr1 | 212791576 | + | USH2A | chr1 | 216011445 | - |
| In-frame | ENST00000366983 | ENST00000307340 | ATF3 | chr1 | 212791576 | + | USH2A | chr1 | 216011445 | - |
| 5CDS-intron | ENST00000366983 | ENST00000366942 | ATF3 | chr1 | 212791576 | + | USH2A | chr1 | 216011445 | - |
Top |
FusionProtFeatures for ATF3_USH2A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ATF3 | USH2A |