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Fusion gene ID: 23962 |
FusionGeneSummary for NEDD4L_SPINT2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: NEDD4L_SPINT2 | Fusion gene ID: 23962 | Hgene | Tgene | Gene symbol | NEDD4L | SPINT2 | Gene ID | 23327 | 10653 |
| Gene name | neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase | serine peptidase inhibitor, Kunitz type 2 | |
| Synonyms | NEDD4-2|NEDD4.2|PVNH7|RSP5|hNEDD4-2 | DIAR3|HAI-2|HAI2|Kop|PB | |
| Cytomap | 18q21.31 | 19q13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | E3 ubiquitin-protein ligase NEDD4-likeHECT-type E3 ubiquitin transferase NED4Lubiquitin-protein ligase Rsp5 | kunitz-type protease inhibitor 2hepatocyte growth factor activator inhibitor type 2serine protease inhibitor, Kunitz type, 2testicular tissue protein Li 183 | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | Q96PU5 | O43291 | |
| Ensembl transtripts involved in fusion gene | ENST00000356462, ENST00000400345, ENST00000589054, ENST00000256832, ENST00000382850, ENST00000256830, ENST00000588516, ENST00000456986, ENST00000435432, ENST00000357895, ENST00000586263, ENST00000456173, ENST00000431212, | ENST00000301244, ENST00000587090, ENST00000454580, | |
| Fusion gene scores | * DoF score | 18 X 11 X 9=1782 | 8 X 2 X 7=112 |
| # samples | 20 | 8 | |
| ** MAII score | log2(20/1782*10)=-3.1554254317472 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/112*10)=-0.485426827170242 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: NEDD4L [Title/Abstract] AND SPINT2 [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 | 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 |
| Tgene | SPINT2 | GO:0022408 | negative regulation of cell-cell adhesion | 19592578 |
| Tgene | SPINT2 | GO:2000146 | negative regulation of cell motility | 19592578 |
| 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 | LD | PRAD | TCGA-EJ-A46G-01A | NEDD4L | chr18 | 55833093 | + | SPINT2 | chr19 | 38774267 | + |
| * 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 | ENST00000301244 | NEDD4L | chr18 | 55833093 | + | SPINT2 | chr19 | 38774267 | + |
| 5CDS-5UTR | ENST00000356462 | ENST00000587090 | NEDD4L | chr18 | 55833093 | + | SPINT2 | chr19 | 38774267 | + |
| 5CDS-intron | ENST00000356462 | ENST00000454580 | NEDD4L | chr18 | 55833093 | + | SPINT2 | chr19 | 38774267 | + |
| Frame-shift | ENST00000400345 | ENST00000301244 | NEDD4L | chr18 | 55833093 | + | SPINT2 | chr19 | 38774267 | + |
| 5CDS-5UTR | ENST00000400345 | ENST00000587090 | NEDD4L | chr18 | 55833093 | + | SPINT2 | chr19 | 38774267 | + |
| 5CDS-intron | ENST00000400345 | ENST00000454580 | NEDD4L | chr18 | 55833093 | + | SPINT2 | chr19 | 38774267 | + |
| intron-3CDS | ENST00000589054 | ENST00000301244 | NEDD4L | chr18 | 55833093 | + | SPINT2 | chr19 | 38774267 | + |
| intron-5UTR | ENST00000589054 | ENST00000587090 | NEDD4L | chr18 | 55833093 | + | SPINT2 | chr19 | 38774267 | + |
| intron-intron | ENST00000589054 | ENST00000454580 | NEDD4L | chr18 | 55833093 | + | SPINT2 | chr19 | 38774267 | + |
| 5UTR-3CDS | ENST00000256832 | ENST00000301244 | NEDD4L | chr18 | 55833093 | + | SPINT2 | chr19 | 38774267 | + |
| 5UTR-5UTR | ENST00000256832 | ENST00000587090 | NEDD4L | chr18 | 55833093 | + | SPINT2 | chr19 | 38774267 | + |
| 5UTR-intron | ENST00000256832 | ENST00000454580 | NEDD4L | chr18 | 55833093 | + | SPINT2 | chr19 | 38774267 | + |
| Frame-shift | ENST00000382850 | ENST00000301244 | NEDD4L | chr18 | 55833093 | + | SPINT2 | chr19 | 38774267 | + |
| 5CDS-5UTR | ENST00000382850 | ENST00000587090 | NEDD4L | chr18 | 55833093 | + | SPINT2 | chr19 | 38774267 | + |
| 5CDS-intron | ENST00000382850 | ENST00000454580 | NEDD4L | chr18 | 55833093 | + | SPINT2 | chr19 | 38774267 | + |
| Frame-shift | ENST00000256830 | ENST00000301244 | NEDD4L | chr18 | 55833093 | + | SPINT2 | chr19 | 38774267 | + |
| 5CDS-5UTR | ENST00000256830 | ENST00000587090 | NEDD4L | chr18 | 55833093 | + | SPINT2 | chr19 | 38774267 | + |
| 5CDS-intron | ENST00000256830 | ENST00000454580 | NEDD4L | chr18 | 55833093 | + | SPINT2 | chr19 | 38774267 | + |
| 3UTR-3CDS | ENST00000588516 | ENST00000301244 | NEDD4L | chr18 | 55833093 | + | SPINT2 | chr19 | 38774267 | + |
| 3UTR-5UTR | ENST00000588516 | ENST00000587090 | NEDD4L | chr18 | 55833093 | + | SPINT2 | chr19 | 38774267 | + |
| 3UTR-intron | ENST00000588516 | ENST00000454580 | NEDD4L | chr18 | 55833093 | + | SPINT2 | chr19 | 38774267 | + |
| 5UTR-3CDS | ENST00000456986 | ENST00000301244 | NEDD4L | chr18 | 55833093 | + | SPINT2 | chr19 | 38774267 | + |
| 5UTR-5UTR | ENST00000456986 | ENST00000587090 | NEDD4L | chr18 | 55833093 | + | SPINT2 | chr19 | 38774267 | + |
| 5UTR-intron | ENST00000456986 | ENST00000454580 | NEDD4L | chr18 | 55833093 | + | SPINT2 | chr19 | 38774267 | + |
| 5UTR-3CDS | ENST00000435432 | ENST00000301244 | NEDD4L | chr18 | 55833093 | + | SPINT2 | chr19 | 38774267 | + |
| 5UTR-5UTR | ENST00000435432 | ENST00000587090 | NEDD4L | chr18 | 55833093 | + | SPINT2 | chr19 | 38774267 | + |
| 5UTR-intron | ENST00000435432 | ENST00000454580 | NEDD4L | chr18 | 55833093 | + | SPINT2 | chr19 | 38774267 | + |
| Frame-shift | ENST00000357895 | ENST00000301244 | NEDD4L | chr18 | 55833093 | + | SPINT2 | chr19 | 38774267 | + |
| 5CDS-5UTR | ENST00000357895 | ENST00000587090 | NEDD4L | chr18 | 55833093 | + | SPINT2 | chr19 | 38774267 | + |
| 5CDS-intron | ENST00000357895 | ENST00000454580 | NEDD4L | chr18 | 55833093 | + | SPINT2 | chr19 | 38774267 | + |
| Frame-shift | ENST00000586263 | ENST00000301244 | NEDD4L | chr18 | 55833093 | + | SPINT2 | chr19 | 38774267 | + |
| 5CDS-5UTR | ENST00000586263 | ENST00000587090 | NEDD4L | chr18 | 55833093 | + | SPINT2 | chr19 | 38774267 | + |
| 5CDS-intron | ENST00000586263 | ENST00000454580 | NEDD4L | chr18 | 55833093 | + | SPINT2 | chr19 | 38774267 | + |
| intron-3CDS | ENST00000456173 | ENST00000301244 | NEDD4L | chr18 | 55833093 | + | SPINT2 | chr19 | 38774267 | + |
| intron-5UTR | ENST00000456173 | ENST00000587090 | NEDD4L | chr18 | 55833093 | + | SPINT2 | chr19 | 38774267 | + |
| intron-intron | ENST00000456173 | ENST00000454580 | NEDD4L | chr18 | 55833093 | + | SPINT2 | chr19 | 38774267 | + |
| intron-3CDS | ENST00000431212 | ENST00000301244 | NEDD4L | chr18 | 55833093 | + | SPINT2 | chr19 | 38774267 | + |
| intron-5UTR | ENST00000431212 | ENST00000587090 | NEDD4L | chr18 | 55833093 | + | SPINT2 | chr19 | 38774267 | + |
| intron-intron | ENST00000431212 | ENST00000454580 | NEDD4L | chr18 | 55833093 | + | SPINT2 | chr19 | 38774267 | + |
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FusionProtFeatures for NEDD4L_SPINT2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| NEDD4L | SPINT2 |
| Inhibitor of HGF activator. Also inhibits plasmin,plasma and tissue kallikrein, and factor XIa. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * Minus value of BPloci means that the break pointn is located before the CDS. |
| - In-frame and retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for NEDD4L_SPINT2 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for NEDD4L_SPINT2 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| NEDD4L | SFN, NR3C1, ARHGDIA, SCNN1A, SCNN1B, SCNN1G, NEDD4L, AMOT, YWHAG, YWHAZ, PSMD4, YWHAB, TNK2, OCLN, APBB1, TOLLIP, NDFIP1, KCNB1, MAPKAPK3, CLIC2, EFEMP2, HGS, NDFIP2, MAP3K3, VDAC2, ZDHHC3, CAMK1D, RANBP10, CDK5, ABL1, MAGEB1, DMTN, AICDA, MARK2, KCNAB1, FKBP3, DAPK3, BRAF, MAP3K5, DDX54, ZAK, KCNAB3, NTRK1, CUEDC1, RPS6KB2, ABL2, CACNB1, YY1, MAP3K2, BBX, PRKX, ACVR1B, ADAP2, BMPR1A, AKT3, MINK1, AURKC, NSRP1, WIBG, SGK2, UBAC1, RPL30, MERTK, SRMS, SERPINF1, DYRK3, IFRD2, SCD, ROBO3, TRIM41, TMA16, TAF1B, SPAG8, STAC, H1F0, PRR16, KIFC3, RASL10B, PRRG1, CDK3, KCNAB2, FGF12, RNF7, APEX2, MRPL19, TGFB1I1, TBC1D7, NHP2, TMEM55A, CYP26B1, DECR2, SENP2, SIVA1, RASL11B, MAP2, STK40, NUDT16L1, C7orf50, TCEAL2, ZC3HAV1L, MOB3A, TARBP2, ZADH2, WBP2, ELAVL1, YWHAH, SGK1, RAF1, TSC22D3, WNK4, WNK1, IKBKB, SMAD7, AMOTL1, UBE2D2, UBC, SMAD2, SMAD3, YWHAQ, NPC2, MT2A, ATP1B1, CYBRD1, SLC7A7, PBX1, ACY3, HAX1, KIF3B, KCNH2, CAV3, UBE2L3, UBE2K, UBE2D1, UBE2E3, UBE2J2, CDC34, ARRDC3, ARRDC4, MED28, FBXL15, LAPTM5, RNF11, KCNQ1, SGK3, UBE2D3, NOTCH1, AATF, GORAB, UBE2N, HCN1, SMAD6, SLC9A3, SNCA, WNK3, PTCH1, DAZAP2, MOV10, CCDC8, FAM189B, PRRG3, TMEM51, TMEM171, SUSD6, FAM189A2, WBP1, ARRDC1, TMEM92, TMEM52B, LDLRAD4, XPO1, LITAF, SLC22A11, SLC22A8, RHOB, CRYAB, GRB10, KCNA3, ULK1, ERBB3, PTK2B, GRIA1, ILDR1, TNFAIP3, TNFRSF19, LPAR1, EDEM3, TRIM25, SCN5A, UBE2E1, UBE2E2, UBE2L6 | SPINT2 | ITIH2, APP, TUBG1, MOV10, CUL7, ILK, TUBGCP2, LSR, ATP12A, LIN54, TBC1D9B, TBC1D15, ATP2A3, ITPRIPL1, FNDC3A, ZNF696, OCRL, ABCA3, RPS7, TMEM214, NCAPD3, SREBF2, THAP11, IQCB1, TSC2, WDR44, LEMD3, POM121, UBR3, TBL2, ATP8B2, DIP2A, NFRKB, SACM1L, ZDHHC13, RETSAT, DHRS7, SPTLC2, ARFGEF1, CCZ1, ACVR1B, CYP51A1, PRR14, LRIF1, MAP7D3, CDC20, TYW1, C20orf24, SMC2, DNAJC16, MOSPD2, BAG3, KIF14, EPHX1, TAF6L, ALG5, NOP9, OSBPL8, NUS1, SLC35F5, TEX264, CKAP5, TMUB1, POLE2, HMGCR, UPK3BL, FNDC3B, VRK2, MZT2B, SLC39A10, SEC22A, ELF2, SLC39A6, C1orf112, USP33, NDC1, SLC30A7, LMF1, GOLGA5, GTPBP3, DAGLB, VANGL2, FAM189B, DPH1, FRMD5, CHD8, PI4K2B, SLC27A3, CMTM6, EGFL7, PKMYT1, LRP10, CNTNAP1, ZDHHC18, CTU1, TIGD5, KLHL26, LRP12, ASPHD2, SCARF2, HGFAC, RNF13, MARC1, GPN3, ARL6IP6 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for NEDD4L_SPINT2 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for NEDD4L_SPINT2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | NEDD4L | C0020538 | Hypertensive disease | 2 | CTD_human |
| Hgene | NEDD4L | C0008925 | Cleft Palate | 1 | CTD_human |
| Hgene | NEDD4L | C0014175 | Endometriosis | 1 | CTD_human |
| Hgene | NEDD4L | C0039075 | Syndactyly | 1 | CTD_human |
| Hgene | NEDD4L | C1868720 | Periventricular Nodular Heterotopia | 1 | CTD_human;ORPHANET |
| Tgene | SPINT2 | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
| Tgene | SPINT2 | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
| Tgene | SPINT2 | C0027794 | Neural Tube Defects | 1 | CTD_human |
| Tgene | SPINT2 | C0032045 | Placenta Disorders | 1 | CTD_human |
| Tgene | SPINT2 | C0267663 | Congenital secretory diarrhea, sodium type (disorder) | 1 | CTD_human;ORPHANET;UNIPROT |
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