|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 25351 |
FusionGeneSummary for OCA2_HERC2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: OCA2_HERC2 | Fusion gene ID: 25351 | Hgene | Tgene | Gene symbol | OCA2 | HERC2 | Gene ID | 4948 | 8924 |
| Gene name | OCA2 melanosomal transmembrane protein | HECT and RLD domain containing E3 ubiquitin protein ligase 2 | |
| Synonyms | BEY|BEY1|BEY2|BOCA|D15S12|EYCL|EYCL2|EYCL3|HCL3|P|PED|SHEP1 | D15F37S1|MRT38|SHEP1|jdf2|p528 | |
| Cytomap | 15q12-q13.1 | 15q13.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | P proteinP-proteineye color 2 (central brown)eye color 3 (brown)hair color 3 (brown)melanocyte-specific transporter proteinoculocutaneous albinism II (pink-eye dilution homolog, mouse)pink-eyed dilution protein homologtotal brown iris pigmentation | E3 ubiquitin-protein ligase HERC2HECT-type E3 ubiquitin transferase HERC2hect domain and RCC1-like domain-containing protein 2hect domain and RLD 2probable E3 ubiquitin-protein ligase HERC2 | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q04671 | O95714 | |
| Ensembl transtripts involved in fusion gene | ENST00000353809, ENST00000354638, ENST00000382996, | ENST00000261609, ENST00000563945, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 3 X 3 X 3=27 |
| # samples | 2 | 3 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: OCA2 [Title/Abstract] AND HERC2 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | DDR (DNA damage repair) gene involved fusion gene, retained protein feature but frameshift. | ||
| * 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 | HERC2 | GO:0006974 | cellular response to DNA damage stimulus | 22508508 |
| Tgene | HERC2 | GO:0016567 | protein ubiquitination | 20304803 |
| 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 | SKCM | TCGA-FS-A1ZQ-06A | OCA2 | chr15 | 28326794 | - | HERC2 | chr15 | 28370339 | - |
| * 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 | ENST00000353809 | ENST00000261609 | OCA2 | chr15 | 28326794 | - | HERC2 | chr15 | 28370339 | - |
| 5CDS-intron | ENST00000353809 | ENST00000563945 | OCA2 | chr15 | 28326794 | - | HERC2 | chr15 | 28370339 | - |
| Frame-shift | ENST00000354638 | ENST00000261609 | OCA2 | chr15 | 28326794 | - | HERC2 | chr15 | 28370339 | - |
| 5CDS-intron | ENST00000354638 | ENST00000563945 | OCA2 | chr15 | 28326794 | - | HERC2 | chr15 | 28370339 | - |
| Frame-shift | ENST00000382996 | ENST00000261609 | OCA2 | chr15 | 28326794 | - | HERC2 | chr15 | 28370339 | - |
| 5CDS-intron | ENST00000382996 | ENST00000563945 | OCA2 | chr15 | 28326794 | - | HERC2 | chr15 | 28370339 | - |
Top |
FusionProtFeatures for OCA2_HERC2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| OCA2 | HERC2 |