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Fusion gene ID: 23780 |
FusionGeneSummary for NDFIP2_MKLN1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: NDFIP2_MKLN1 | Fusion gene ID: 23780 | Hgene | Tgene | Gene symbol | NDFIP2 | MKLN1 | Gene ID | 54602 | 4289 |
| Gene name | Nedd4 family interacting protein 2 | muskelin 1 | |
| Synonyms | N4WBP5A | TWA2 | |
| Cytomap | 13q31.1 | 7q32.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | NEDD4 family-interacting protein 2MAPK-activating protein PM04 PM05 PM06 PM07NEDD4 WW domain-binding protein 5ANF-kappa-B-activating protein 413putative MAPK-activating protein PM04/PM05/PM06/PM07putative NF-kappa-B-activating protein 413 | muskelinmuskelin 1, intracellular mediator containing kelch motifs | |
| Modification date | 20180522 | 20180522 | |
| UniProtAcc | Q9NV92 | Q9UL63 | |
| Ensembl transtripts involved in fusion gene | ENST00000218652, ENST00000494647, | ENST00000421797, ENST00000429546, ENST00000352689, ENST00000498778, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 10 X 9 X 6=540 |
| # samples | 1 | 11 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(11/540*10)=-2.29545588352617 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: NDFIP2 [Title/Abstract] AND MKLN1 [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 |
| 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 |
| ChiTaRS3.1 | AA563877 | NDFIP2 | chr13 | 80094192 | - | MKLN1 | chr7 | 131127057 | - |
| * 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 |
| intron-intron | ENST00000218652 | ENST00000421797 | NDFIP2 | chr13 | 80094192 | - | MKLN1 | chr7 | 131127057 | - |
| intron-intron | ENST00000218652 | ENST00000429546 | NDFIP2 | chr13 | 80094192 | - | MKLN1 | chr7 | 131127057 | - |
| intron-intron | ENST00000218652 | ENST00000352689 | NDFIP2 | chr13 | 80094192 | - | MKLN1 | chr7 | 131127057 | - |
| intron-intron | ENST00000218652 | ENST00000498778 | NDFIP2 | chr13 | 80094192 | - | MKLN1 | chr7 | 131127057 | - |
| intron-intron | ENST00000494647 | ENST00000421797 | NDFIP2 | chr13 | 80094192 | - | MKLN1 | chr7 | 131127057 | - |
| intron-intron | ENST00000494647 | ENST00000429546 | NDFIP2 | chr13 | 80094192 | - | MKLN1 | chr7 | 131127057 | - |
| intron-intron | ENST00000494647 | ENST00000352689 | NDFIP2 | chr13 | 80094192 | - | MKLN1 | chr7 | 131127057 | - |
| intron-intron | ENST00000494647 | ENST00000498778 | NDFIP2 | chr13 | 80094192 | - | MKLN1 | chr7 | 131127057 | - |
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FusionProtFeatures for NDFIP2_MKLN1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| NDFIP2 | MKLN1 |
| Activates HECT domain-containing E3 ubiquitin-proteinligases, including ITCH, NEDD4, NEDD4L, SMURF2, WWP1 and WWP2, andconsequently modulates the stability of their targets. As aresult, may control many cellular processes. Recruits ITCH, NEDD4and SMURF2 to endosomal membranes. Negatively regulates KCNH2potassium channel activity by decreasing its cell-surfaceexpression and interfering with channel maturation throughrecruitment of NEDD4L to the Golgi apparatus and multivesicularbody where it mediates KCNH2 degradation (PubMed:26363003). Maymodulate EGFR signaling. Together with NDFIP1, limits the cytokinesignaling and expansion of effector Th2 T-cells by promotingdegradation of JAK1, probably by ITCH- and NEDD4L-mediatedubiquitination (By similarity). {ECO:0000250|UniProtKB:Q91ZP6,ECO:0000269|PubMed:12761501, ECO:0000269|PubMed:19343052,ECO:0000269|PubMed:20534535, ECO:0000269|PubMed:26363003}. | Acts as a mediator of cell spreading and cytoskeletalresponses to the extracellular matrix component THBS1.{ECO:0000250|UniProtKB:O89050}. |
| 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 NDFIP2_MKLN1 |
| 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 NDFIP2_MKLN1 |
| 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 |
| - 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 NDFIP2_MKLN1 |
| 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 NDFIP2_MKLN1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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