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Fusion gene ID: 24396 |
FusionGeneSummary for NIPBL_SLC30A9 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: NIPBL_SLC30A9 | Fusion gene ID: 24396 | Hgene | Tgene | Gene symbol | NIPBL | SLC30A9 | Gene ID | 25836 | 10463 |
| Gene name | NIPBL, cohesin loading factor | solute carrier family 30 member 9 | |
| Synonyms | CDLS|CDLS1|IDN3|IDN3-B|Scc2 | BILAPES|C4orf1|GAC63|HUEL|ZNT9 | |
| Cytomap | 5p13.2 | 4p13 | |
| Type of gene | protein-coding | protein-coding | |
| Description | nipped-B-like proteinNipped-B homologSCC2 homologdelanginsister chromatid cohesion 2 homolog | zinc transporter 9GRIP1-dependent nuclear receptor coactivatorexpressed in human embryonic lunghuman embryonic lung proteinsolute carrier family 30 (zinc transporter), member 9znT-9 | |
| Modification date | 20180527 | 20180519 | |
| UniProtAcc | Q6KC79 | Q6PML9 | |
| Ensembl transtripts involved in fusion gene | ENST00000282516, ENST00000448238, ENST00000504430, | ENST00000264451, | |
| Fusion gene scores | * DoF score | 18 X 9 X 11=1782 | 3 X 5 X 3=45 |
| # samples | 24 | 4 | |
| ** MAII score | log2(24/1782*10)=-2.8923910259134 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/45*10)=-0.169925001442312 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: NIPBL [Title/Abstract] AND SLC30A9 [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 | NIPBL | GO:0000122 | negative regulation of transcription by RNA polymerase II | 18854353 |
| Hgene | NIPBL | GO:0031065 | positive regulation of histone deacetylation | 18854353 |
| Hgene | NIPBL | GO:0045892 | negative regulation of transcription, DNA-templated | 18854353 |
| Hgene | NIPBL | GO:0071921 | cohesin loading | 22628566 |
| 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-A7-A6VV-01A | NIPBL | chr5 | 36877280 | + | SLC30A9 | chr4 | 42062208 | + |
| TCGA | LD | BRCA | TCGA-A7-A6VV-01A | NIPBL | chr5 | 36877280 | + | SLC30A9 | chr4 | 42065003 | + |
| * 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 |
| 5UTR-3CDS | ENST00000282516 | ENST00000264451 | NIPBL | chr5 | 36877280 | + | SLC30A9 | chr4 | 42062208 | + |
| 5UTR-3CDS | ENST00000448238 | ENST00000264451 | NIPBL | chr5 | 36877280 | + | SLC30A9 | chr4 | 42062208 | + |
| intron-3CDS | ENST00000504430 | ENST00000264451 | NIPBL | chr5 | 36877280 | + | SLC30A9 | chr4 | 42062208 | + |
| 5UTR-3CDS | ENST00000282516 | ENST00000264451 | NIPBL | chr5 | 36877280 | + | SLC30A9 | chr4 | 42065003 | + |
| 5UTR-3CDS | ENST00000448238 | ENST00000264451 | NIPBL | chr5 | 36877280 | + | SLC30A9 | chr4 | 42065003 | + |
| intron-3CDS | ENST00000504430 | ENST00000264451 | NIPBL | chr5 | 36877280 | + | SLC30A9 | chr4 | 42065003 | + |
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FusionProtFeatures for NIPBL_SLC30A9 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| NIPBL | SLC30A9 |