|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 16298 |
FusionGeneSummary for HIVEP3_RPH3AL |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: HIVEP3_RPH3AL | Fusion gene ID: 16298 | Hgene | Tgene | Gene symbol | HIVEP3 | RPH3AL | Gene ID | 59269 | 9501 |
| Gene name | human immunodeficiency virus type I enhancer binding protein 3 | rabphilin 3A like (without C2 domains) | |
| Synonyms | KBP-1|KBP1|KRC|SHN3|Schnurri-3|ZAS3|ZNF40C | NOC2 | |
| Cytomap | 1p34.2 | 17p13.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | transcription factor HIVEP3ZAS family, member 3kappa-B and V(D)J recombination signal sequences-binding proteinkappa-binding protein 1zinc finger protein ZAS3 | rab effector Noc2no C2 domains protein | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | Q5T1R4 | Q9UNE2 | |
| Ensembl transtripts involved in fusion gene | ENST00000372583, ENST00000372584, ENST00000247584, ENST00000429157, ENST00000460604, | ENST00000331302, ENST00000323434, ENST00000536489, ENST00000576001, | |
| Fusion gene scores | * DoF score | 11 X 11 X 5=605 | 3 X 3 X 3=27 |
| # samples | 12 | 3 | |
| ** MAII score | log2(12/605*10)=-2.33390073655344 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). 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: HIVEP3 [Title/Abstract] AND RPH3AL [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) 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 | HIVEP3 | GO:0045893 | positive regulation of transcription, DNA-templated | 15790681 |
| 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 | HNSC | TCGA-BB-A5HU-01A | HIVEP3 | chr1 | 41984073 | - | RPH3AL | chr17 | 171206 | - |
| * 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 | ENST00000372583 | ENST00000331302 | HIVEP3 | chr1 | 41984073 | - | RPH3AL | chr17 | 171206 | - |
| Frame-shift | ENST00000372583 | ENST00000323434 | HIVEP3 | chr1 | 41984073 | - | RPH3AL | chr17 | 171206 | - |
| Frame-shift | ENST00000372583 | ENST00000536489 | HIVEP3 | chr1 | 41984073 | - | RPH3AL | chr17 | 171206 | - |
| 5CDS-intron | ENST00000372583 | ENST00000576001 | HIVEP3 | chr1 | 41984073 | - | RPH3AL | chr17 | 171206 | - |
| Frame-shift | ENST00000372584 | ENST00000331302 | HIVEP3 | chr1 | 41984073 | - | RPH3AL | chr17 | 171206 | - |
| Frame-shift | ENST00000372584 | ENST00000323434 | HIVEP3 | chr1 | 41984073 | - | RPH3AL | chr17 | 171206 | - |
| Frame-shift | ENST00000372584 | ENST00000536489 | HIVEP3 | chr1 | 41984073 | - | RPH3AL | chr17 | 171206 | - |
| 5CDS-intron | ENST00000372584 | ENST00000576001 | HIVEP3 | chr1 | 41984073 | - | RPH3AL | chr17 | 171206 | - |
| Frame-shift | ENST00000247584 | ENST00000331302 | HIVEP3 | chr1 | 41984073 | - | RPH3AL | chr17 | 171206 | - |
| Frame-shift | ENST00000247584 | ENST00000323434 | HIVEP3 | chr1 | 41984073 | - | RPH3AL | chr17 | 171206 | - |
| Frame-shift | ENST00000247584 | ENST00000536489 | HIVEP3 | chr1 | 41984073 | - | RPH3AL | chr17 | 171206 | - |
| 5CDS-intron | ENST00000247584 | ENST00000576001 | HIVEP3 | chr1 | 41984073 | - | RPH3AL | chr17 | 171206 | - |
| Frame-shift | ENST00000429157 | ENST00000331302 | HIVEP3 | chr1 | 41984073 | - | RPH3AL | chr17 | 171206 | - |
| Frame-shift | ENST00000429157 | ENST00000323434 | HIVEP3 | chr1 | 41984073 | - | RPH3AL | chr17 | 171206 | - |
| Frame-shift | ENST00000429157 | ENST00000536489 | HIVEP3 | chr1 | 41984073 | - | RPH3AL | chr17 | 171206 | - |
| 5CDS-intron | ENST00000429157 | ENST00000576001 | HIVEP3 | chr1 | 41984073 | - | RPH3AL | chr17 | 171206 | - |
| 5UTR-3CDS | ENST00000460604 | ENST00000331302 | HIVEP3 | chr1 | 41984073 | - | RPH3AL | chr17 | 171206 | - |
| 5UTR-3CDS | ENST00000460604 | ENST00000323434 | HIVEP3 | chr1 | 41984073 | - | RPH3AL | chr17 | 171206 | - |
| 5UTR-3CDS | ENST00000460604 | ENST00000536489 | HIVEP3 | chr1 | 41984073 | - | RPH3AL | chr17 | 171206 | - |
| 5UTR-intron | ENST00000460604 | ENST00000576001 | HIVEP3 | chr1 | 41984073 | - | RPH3AL | chr17 | 171206 | - |
Top |
FusionProtFeatures for HIVEP3_RPH3AL |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| HIVEP3 | RPH3AL |