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Fusion gene ID: 23950 |
FusionGeneSummary for NEDD4L_ALPK2 |
Fusion gene summary |
| Fusion gene information | Fusion gene name: NEDD4L_ALPK2 | Fusion gene ID: 23950 | Hgene | Tgene | Gene symbol | NEDD4L | ALPK2 | Gene ID | 23327 | 115701 |
| Gene name | neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase | alpha kinase 2 | |
| Synonyms | NEDD4-2|NEDD4.2|PVNH7|RSP5|hNEDD4-2 | HAK | |
| Cytomap | 18q21.31 | 18q21.31-q21.32 | |
| Type of gene | protein-coding | protein-coding | |
| Description | E3 ubiquitin-protein ligase NEDD4-likeHECT-type E3 ubiquitin transferase NED4Lubiquitin-protein ligase Rsp5 | alpha-protein kinase 2heart alpha-kinaseheart alpha-protein kinase | |
| Modification date | 20180523 | 20180329 | |
| UniProtAcc | Q96PU5 | Q86TB3 | |
| Ensembl transtripts involved in fusion gene | ENST00000356462, ENST00000400345, ENST00000589054, ENST00000256832, ENST00000382850, ENST00000256830, ENST00000588516, ENST00000456986, ENST00000435432, ENST00000357895, ENST00000586263, ENST00000456173, ENST00000431212, | ENST00000361673, ENST00000587399, | |
| Fusion gene scores | * DoF score | 18 X 11 X 9=1782 | 1 X 2 X 1=2 |
| # samples | 20 | 2 | |
| ** MAII score | log2(20/1782*10)=-3.1554254317472 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/2*10)=3.32192809488736 | |
| Context | PubMed: NEDD4L [Title/Abstract] AND ALPK2 [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. 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. Kinase involved fusion gene, inframe and retained kinase 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 | NEDD4L | GO:0003254 | regulation of membrane depolarization | 15217910 |
| Hgene | NEDD4L | GO:0006511 | ubiquitin-dependent protein catabolic process | 21463633 |
| Hgene | NEDD4L | GO:0010038 | response to metal ion | 11244092 |
| Hgene | NEDD4L | GO:0016567 | protein ubiquitination | 15217910|25631046 |
| Hgene | NEDD4L | GO:0034765 | regulation of ion transmembrane transport | 17289006 |
| Hgene | NEDD4L | GO:0042391 | regulation of membrane potential | 17289006 |
| Hgene | NEDD4L | GO:0043161 | proteasome-mediated ubiquitin-dependent protein catabolic process | 21463633 |
| Hgene | NEDD4L | GO:0060306 | regulation of membrane repolarization | 21463633 |
| Hgene | NEDD4L | GO:0070936 | protein K48-linked ubiquitination | 21463633 |
| Hgene | NEDD4L | GO:1901016 | regulation of potassium ion transmembrane transporter activity | 17289006 |
| Hgene | NEDD4L | GO:1901017 | negative regulation of potassium ion transmembrane transporter activity | 21463633 |
| Hgene | NEDD4L | GO:1901380 | negative regulation of potassium ion transmembrane transport | 21463633 |
| Hgene | NEDD4L | GO:1902306 | negative regulation of sodium ion transmembrane transport | 15217910 |
| Hgene | NEDD4L | GO:1903861 | positive regulation of dendrite extension | 23999003 |
| Hgene | NEDD4L | GO:2000009 | negative regulation of protein localization to cell surface | 21463633 |
| Hgene | NEDD4L | GO:2000650 | negative regulation of sodium ion transmembrane transporter activity | 15217910 |
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 | STAD | TCGA-VQ-A8PD-01A | NEDD4L | chr18 | 55711940 | + | ALPK2 | chr18 | 56196470 | - |
| TCGA | LD | STAD | TCGA-VQ-A8PX-01A | NEDD4L | chr18 | 56033460 | + | ALPK2 | chr18 | 56191294 | - |
| * 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 | ENST00000356462 | ENST00000361673 | NEDD4L | chr18 | 55711940 | + | ALPK2 | chr18 | 56196470 | - |
| 5CDS-intron | ENST00000356462 | ENST00000587399 | NEDD4L | chr18 | 55711940 | + | ALPK2 | chr18 | 56196470 | - |
| Frame-shift | ENST00000400345 | ENST00000361673 | NEDD4L | chr18 | 55711940 | + | ALPK2 | chr18 | 56196470 | - |
| 5CDS-intron | ENST00000400345 | ENST00000587399 | NEDD4L | chr18 | 55711940 | + | ALPK2 | chr18 | 56196470 | - |
| Frame-shift | ENST00000589054 | ENST00000361673 | NEDD4L | chr18 | 55711940 | + | ALPK2 | chr18 | 56196470 | - |
| 5CDS-intron | ENST00000589054 | ENST00000587399 | NEDD4L | chr18 | 55711940 | + | ALPK2 | chr18 | 56196470 | - |
| 5UTR-3CDS | ENST00000256832 | ENST00000361673 | NEDD4L | chr18 | 55711940 | + | ALPK2 | chr18 | 56196470 | - |
| 5UTR-intron | ENST00000256832 | ENST00000587399 | NEDD4L | chr18 | 55711940 | + | ALPK2 | chr18 | 56196470 | - |
| Frame-shift | ENST00000382850 | ENST00000361673 | NEDD4L | chr18 | 55711940 | + | ALPK2 | chr18 | 56196470 | - |
| 5CDS-intron | ENST00000382850 | ENST00000587399 | NEDD4L | chr18 | 55711940 | + | ALPK2 | chr18 | 56196470 | - |
| Frame-shift | ENST00000256830 | ENST00000361673 | NEDD4L | chr18 | 55711940 | + | ALPK2 | chr18 | 56196470 | - |
| 5CDS-intron | ENST00000256830 | ENST00000587399 | NEDD4L | chr18 | 55711940 | + | ALPK2 | chr18 | 56196470 | - |
| intron-3CDS | ENST00000588516 | ENST00000361673 | NEDD4L | chr18 | 55711940 | + | ALPK2 | chr18 | 56196470 | - |
| intron-intron | ENST00000588516 | ENST00000587399 | NEDD4L | chr18 | 55711940 | + | ALPK2 | chr18 | 56196470 | - |
| intron-3CDS | ENST00000456986 | ENST00000361673 | NEDD4L | chr18 | 55711940 | + | ALPK2 | chr18 | 56196470 | - |
| intron-intron | ENST00000456986 | ENST00000587399 | NEDD4L | chr18 | 55711940 | + | ALPK2 | chr18 | 56196470 | - |
| intron-3CDS | ENST00000435432 | ENST00000361673 | NEDD4L | chr18 | 55711940 | + | ALPK2 | chr18 | 56196470 | - |
| intron-intron | ENST00000435432 | ENST00000587399 | NEDD4L | chr18 | 55711940 | + | ALPK2 | chr18 | 56196470 | - |
| intron-3CDS | ENST00000357895 | ENST00000361673 | NEDD4L | chr18 | 55711940 | + | ALPK2 | chr18 | 56196470 | - |
| intron-intron | ENST00000357895 | ENST00000587399 | NEDD4L | chr18 | 55711940 | + | ALPK2 | chr18 | 56196470 | - |
| intron-3CDS | ENST00000586263 | ENST00000361673 | NEDD4L | chr18 | 55711940 | + | ALPK2 | chr18 | 56196470 | - |
| intron-intron | ENST00000586263 | ENST00000587399 | NEDD4L | chr18 | 55711940 | + | ALPK2 | chr18 | 56196470 | - |
| intron-3CDS | ENST00000456173 | ENST00000361673 | NEDD4L | chr18 | 55711940 | + | ALPK2 | chr18 | 56196470 | - |
| intron-intron | ENST00000456173 | ENST00000587399 | NEDD4L | chr18 | 55711940 | + | ALPK2 | chr18 | 56196470 | - |
| intron-3CDS | ENST00000431212 | ENST00000361673 | NEDD4L | chr18 | 55711940 | + | ALPK2 | chr18 | 56196470 | - |
| intron-intron | ENST00000431212 | ENST00000587399 | NEDD4L | chr18 | 55711940 | + | ALPK2 | chr18 | 56196470 | - |
| In-frame | ENST00000356462 | ENST00000361673 | NEDD4L | chr18 | 56033460 | + | ALPK2 | chr18 | 56191294 | - |
| 5CDS-intron | ENST00000356462 | ENST00000587399 | NEDD4L | chr18 | 56033460 | + | ALPK2 | chr18 | 56191294 | - |
| In-frame | ENST00000400345 | ENST00000361673 | NEDD4L | chr18 | 56033460 | + | ALPK2 | chr18 | 56191294 | - |
| 5CDS-intron | ENST00000400345 | ENST00000587399 | NEDD4L | chr18 | 56033460 | + | ALPK2 | chr18 | 56191294 | - |
| intron-3CDS | ENST00000589054 | ENST00000361673 | NEDD4L | chr18 | 56033460 | + | ALPK2 | chr18 | 56191294 | - |
| intron-intron | ENST00000589054 | ENST00000587399 | NEDD4L | chr18 | 56033460 | + | ALPK2 | chr18 | 56191294 | - |
| In-frame | ENST00000256832 | ENST00000361673 | NEDD4L | chr18 | 56033460 | + | ALPK2 | chr18 | 56191294 | - |
| 5CDS-intron | ENST00000256832 | ENST00000587399 | NEDD4L | chr18 | 56033460 | + | ALPK2 | chr18 | 56191294 | - |
| In-frame | ENST00000382850 | ENST00000361673 | NEDD4L | chr18 | 56033460 | + | ALPK2 | chr18 | 56191294 | - |
| 5CDS-intron | ENST00000382850 | ENST00000587399 | NEDD4L | chr18 | 56033460 | + | ALPK2 | chr18 | 56191294 | - |
| In-frame | ENST00000256830 | ENST00000361673 | NEDD4L | chr18 | 56033460 | + | ALPK2 | chr18 | 56191294 | - |
| 5CDS-intron | ENST00000256830 | ENST00000587399 | NEDD4L | chr18 | 56033460 | + | ALPK2 | chr18 | 56191294 | - |
| intron-3CDS | ENST00000588516 | ENST00000361673 | NEDD4L | chr18 | 56033460 | + | ALPK2 | chr18 | 56191294 | - |
| intron-intron | ENST00000588516 | ENST00000587399 | NEDD4L | chr18 | 56033460 | + | ALPK2 | chr18 | 56191294 | - |
| In-frame | ENST00000456986 | ENST00000361673 | NEDD4L | chr18 | 56033460 | + | ALPK2 | chr18 | 56191294 | - |
| 5CDS-intron | ENST00000456986 | ENST00000587399 | NEDD4L | chr18 | 56033460 | + | ALPK2 | chr18 | 56191294 | - |
| In-frame | ENST00000435432 | ENST00000361673 | NEDD4L | chr18 | 56033460 | + | ALPK2 | chr18 | 56191294 | - |
| 5CDS-intron | ENST00000435432 | ENST00000587399 | NEDD4L | chr18 | 56033460 | + | ALPK2 | chr18 | 56191294 | - |
| In-frame | ENST00000357895 | ENST00000361673 | NEDD4L | chr18 | 56033460 | + | ALPK2 | chr18 | 56191294 | - |
| 5CDS-intron | ENST00000357895 | ENST00000587399 | NEDD4L | chr18 | 56033460 | + | ALPK2 | chr18 | 56191294 | - |
| In-frame | ENST00000586263 | ENST00000361673 | NEDD4L | chr18 | 56033460 | + | ALPK2 | chr18 | 56191294 | - |
| 5CDS-intron | ENST00000586263 | ENST00000587399 | NEDD4L | chr18 | 56033460 | + | ALPK2 | chr18 | 56191294 | - |
| In-frame | ENST00000456173 | ENST00000361673 | NEDD4L | chr18 | 56033460 | + | ALPK2 | chr18 | 56191294 | - |
| 5CDS-intron | ENST00000456173 | ENST00000587399 | NEDD4L | chr18 | 56033460 | + | ALPK2 | chr18 | 56191294 | - |
| In-frame | ENST00000431212 | ENST00000361673 | NEDD4L | chr18 | 56033460 | + | ALPK2 | chr18 | 56191294 | - |
| 5CDS-intron | ENST00000431212 | ENST00000587399 | NEDD4L | chr18 | 56033460 | + | ALPK2 | chr18 | 56191294 | - |
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FusionProtFeatures for NEDD4L_ALPK2 |
Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| NEDD4L | ALPK2 |