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Fusion gene ID: 4276 |
FusionGeneSummary for BNIP3L_PMP22 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: BNIP3L_PMP22 | Fusion gene ID: 4276 | Hgene | Tgene | Gene symbol | BNIP3L | PMP22 | Gene ID | 665 | 5376 |
| Gene name | BCL2 interacting protein 3 like | peripheral myelin protein 22 | |
| Synonyms | BNIP3a|NIX | CIDP|CMT1A|CMT1E|DSS|GAS-3|GAS3|HMSNIA|HNPP|Sp110 | |
| Cytomap | 8p21.2 | 17p12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | BCL2/adenovirus E1B 19 kDa protein-interacting protein 3-likeBCL2/adenovirus E1B 19 kDa protein-interacting protein 3ABCL2/adenovirus E1B 19-kd protein-interacting protein 3aBCL2/adenovirus E1B 19kDa interacting protein 3 likeNIP-3-like protein XNIP3 | peripheral myelin protein 22growth arrest-specific protein 3peripheral myelin protein 22 kDa | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | O60238 | Q01453 | |
| Ensembl transtripts involved in fusion gene | ENST00000380629, ENST00000523515, ENST00000520409, ENST00000518611, ENST00000521254, | ENST00000395938, ENST00000312280, ENST00000494511, ENST00000395936, ENST00000426385, | |
| Fusion gene scores | * DoF score | 3 X 3 X 1=9 | 5 X 5 X 2=50 |
| # samples | 4 | 5 | |
| ** MAII score | log2(4/9*10)=2.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(5/50*10)=0 | |
| Context | PubMed: BNIP3L [Title/Abstract] AND PMP22 [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 | BNIP3L | GO:0043065 | positive regulation of apoptotic process | 9973195 |
| Hgene | BNIP3L | GO:0043066 | negative regulation of apoptotic process | 10381623 |
| Hgene | BNIP3L | GO:0051607 | defense response to virus | 9973195 |
| Tgene | PMP22 | GO:0008219 | cell death | 12107182 |
| Tgene | PMP22 | GO:0032060 | bleb assembly | 12107182 |
| 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 | AI081942 | BNIP3L | chr8 | 26268430 | - | PMP22 | chr17 | 15134169 | + |
| * 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 |
| 3UTR-3UTR | ENST00000380629 | ENST00000395938 | BNIP3L | chr8 | 26268430 | - | PMP22 | chr17 | 15134169 | + |
| 3UTR-3UTR | ENST00000380629 | ENST00000312280 | BNIP3L | chr8 | 26268430 | - | PMP22 | chr17 | 15134169 | + |
| 3UTR-3UTR | ENST00000380629 | ENST00000494511 | BNIP3L | chr8 | 26268430 | - | PMP22 | chr17 | 15134169 | + |
| 3UTR-3UTR | ENST00000380629 | ENST00000395936 | BNIP3L | chr8 | 26268430 | - | PMP22 | chr17 | 15134169 | + |
| 3UTR-intron | ENST00000380629 | ENST00000426385 | BNIP3L | chr8 | 26268430 | - | PMP22 | chr17 | 15134169 | + |
| intron-3UTR | ENST00000523515 | ENST00000395938 | BNIP3L | chr8 | 26268430 | - | PMP22 | chr17 | 15134169 | + |
| intron-3UTR | ENST00000523515 | ENST00000312280 | BNIP3L | chr8 | 26268430 | - | PMP22 | chr17 | 15134169 | + |
| intron-3UTR | ENST00000523515 | ENST00000494511 | BNIP3L | chr8 | 26268430 | - | PMP22 | chr17 | 15134169 | + |
| intron-3UTR | ENST00000523515 | ENST00000395936 | BNIP3L | chr8 | 26268430 | - | PMP22 | chr17 | 15134169 | + |
| intron-intron | ENST00000523515 | ENST00000426385 | BNIP3L | chr8 | 26268430 | - | PMP22 | chr17 | 15134169 | + |
| intron-3UTR | ENST00000520409 | ENST00000395938 | BNIP3L | chr8 | 26268430 | - | PMP22 | chr17 | 15134169 | + |
| intron-3UTR | ENST00000520409 | ENST00000312280 | BNIP3L | chr8 | 26268430 | - | PMP22 | chr17 | 15134169 | + |
| intron-3UTR | ENST00000520409 | ENST00000494511 | BNIP3L | chr8 | 26268430 | - | PMP22 | chr17 | 15134169 | + |
| intron-3UTR | ENST00000520409 | ENST00000395936 | BNIP3L | chr8 | 26268430 | - | PMP22 | chr17 | 15134169 | + |
| intron-intron | ENST00000520409 | ENST00000426385 | BNIP3L | chr8 | 26268430 | - | PMP22 | chr17 | 15134169 | + |
| 3UTR-3UTR | ENST00000518611 | ENST00000395938 | BNIP3L | chr8 | 26268430 | - | PMP22 | chr17 | 15134169 | + |
| 3UTR-3UTR | ENST00000518611 | ENST00000312280 | BNIP3L | chr8 | 26268430 | - | PMP22 | chr17 | 15134169 | + |
| 3UTR-3UTR | ENST00000518611 | ENST00000494511 | BNIP3L | chr8 | 26268430 | - | PMP22 | chr17 | 15134169 | + |
| 3UTR-3UTR | ENST00000518611 | ENST00000395936 | BNIP3L | chr8 | 26268430 | - | PMP22 | chr17 | 15134169 | + |
| 3UTR-intron | ENST00000518611 | ENST00000426385 | BNIP3L | chr8 | 26268430 | - | PMP22 | chr17 | 15134169 | + |
| intron-3UTR | ENST00000521254 | ENST00000395938 | BNIP3L | chr8 | 26268430 | - | PMP22 | chr17 | 15134169 | + |
| intron-3UTR | ENST00000521254 | ENST00000312280 | BNIP3L | chr8 | 26268430 | - | PMP22 | chr17 | 15134169 | + |
| intron-3UTR | ENST00000521254 | ENST00000494511 | BNIP3L | chr8 | 26268430 | - | PMP22 | chr17 | 15134169 | + |
| intron-3UTR | ENST00000521254 | ENST00000395936 | BNIP3L | chr8 | 26268430 | - | PMP22 | chr17 | 15134169 | + |
| intron-intron | ENST00000521254 | ENST00000426385 | BNIP3L | chr8 | 26268430 | - | PMP22 | chr17 | 15134169 | + |
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FusionProtFeatures for BNIP3L_PMP22 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| BNIP3L | PMP22 |
| Induces apoptosis. Interacts with viral and cellularanti-apoptosis proteins. Can overcome the suppressors BCL-2 andBCL-XL, although high levels of BCL-XL expression will inhibitapoptosis. Inhibits apoptosis induced by BNIP3. Involved inmitochondrial quality control via its interaction withSPATA18/MIEAP: in response to mitochondrial damage, participatesin mitochondrial protein catabolic process (also named MALM)leading to the degradation of damaged proteins insidemitochondria. The physical interaction of SPATA18/MIEAP, BNIP3 andBNIP3L/NIX at the mitochondrial outer membrane regulates theopening of a pore in the mitochondrial double membrane in order tomediate the translocation of lysosomal proteins from the cytoplasmto the mitochondrial matrix. May function as a tumor suppressor.{ECO:0000269|PubMed:10381623, ECO:0000269|PubMed:21264228}. | Might be involved in growth regulation, and inmyelinization in the peripheral nervous system. |
| 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 BNIP3L_PMP22 |
| 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 BNIP3L_PMP22 |
| 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 BNIP3L_PMP22 |
| 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 BNIP3L_PMP22 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | PMP22 | C0011195 | Dejerine-Sottas Disease (disorder) | 18 | ORPHANET;UNIPROT |
| Tgene | PMP22 | C0270911 | Charcot-Marie-Tooth Disease, Type Ia (disorder) | 14 | ORPHANET;UNIPROT |
| Tgene | PMP22 | C0007959 | Charcot-Marie-Tooth Disease | 3 | CTD_human |
| Tgene | PMP22 | C0393814 | Hereditary liability to pressure palsies | 3 | CTD_human;ORPHANET;UNIPROT |
| Tgene | PMP22 | C3495591 | Charcot-Marie-Tooth Disease, Demyelinating, Type 1e | 3 | CTD_human;UNIPROT |
| Tgene | PMP22 | C0031117 | Peripheral Neuropathy | 2 | CTD_human |
| Tgene | PMP22 | C0008073 | Developmental Disabilities | 1 | CTD_human |
| Tgene | PMP22 | C0011303 | Demyelinating Diseases | 1 | CTD_human |
| Tgene | PMP22 | C0014550 | Epilepsies, Myoclonic | 1 | CTD_human |
| Tgene | PMP22 | C0027888 | Hereditary Motor and Sensory Neuropathies | 1 | CTD_human |
| Tgene | PMP22 | C0030554 | Paresthesia | 1 | CTD_human;HPO |
| Tgene | PMP22 | C0034372 | Quadriplegia | 1 | CTD_human |
| Tgene | PMP22 | C0034933 | Reflex, Abnormal | 1 | CTD_human |
| Tgene | PMP22 | C0151786 | Muscle Weakness | 1 | CTD_human;HPO |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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