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Fusion gene ID: 27801 |
FusionGeneSummary for PMP22_THBS2 |
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Fusion gene information | Fusion gene name: PMP22_THBS2 | Fusion gene ID: 27801 | Hgene | Tgene | Gene symbol | PMP22 | THBS2 | Gene ID | 5376 | 7058 |
Gene name | peripheral myelin protein 22 | thrombospondin 2 | |
Synonyms | CIDP|CMT1A|CMT1E|DSS|GAS-3|GAS3|HMSNIA|HNPP|Sp110 | TSP2 | |
Cytomap | 17p12 | 6q27 | |
Type of gene | protein-coding | protein-coding | |
Description | peripheral myelin protein 22growth arrest-specific protein 3peripheral myelin protein 22 kDa | thrombospondin-2 | |
Modification date | 20180523 | 20180522 | |
UniProtAcc | Q01453 | P35442 | |
Ensembl transtripts involved in fusion gene | ENST00000395938, ENST00000312280, ENST00000494511, ENST00000395936, ENST00000426385, | ENST00000366787, ENST00000488355, | |
Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 3 X 3 X 1=9 |
# samples | 3 | 3 | |
** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(3/9*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: PMP22 [Title/Abstract] AND THBS2 [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | PMP22 | GO:0008219 | cell death | 12107182 |
Hgene | PMP22 | GO:0032060 | bleb assembly | 12107182 |
Tgene | THBS2 | GO:0016525 | negative regulation of angiogenesis | 20714802 |
![]() (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 | AW580806 | PMP22 | chr17 | 15133902 | - | THBS2 | chr6 | 169616519 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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-3UTR | ENST00000395938 | ENST00000366787 | PMP22 | chr17 | 15133902 | - | THBS2 | chr6 | 169616519 | - |
intron-intron | ENST00000395938 | ENST00000488355 | PMP22 | chr17 | 15133902 | - | THBS2 | chr6 | 169616519 | - |
intron-3UTR | ENST00000312280 | ENST00000366787 | PMP22 | chr17 | 15133902 | - | THBS2 | chr6 | 169616519 | - |
intron-intron | ENST00000312280 | ENST00000488355 | PMP22 | chr17 | 15133902 | - | THBS2 | chr6 | 169616519 | - |
intron-3UTR | ENST00000494511 | ENST00000366787 | PMP22 | chr17 | 15133902 | - | THBS2 | chr6 | 169616519 | - |
intron-intron | ENST00000494511 | ENST00000488355 | PMP22 | chr17 | 15133902 | - | THBS2 | chr6 | 169616519 | - |
intron-3UTR | ENST00000395936 | ENST00000366787 | PMP22 | chr17 | 15133902 | - | THBS2 | chr6 | 169616519 | - |
intron-intron | ENST00000395936 | ENST00000488355 | PMP22 | chr17 | 15133902 | - | THBS2 | chr6 | 169616519 | - |
intron-3UTR | ENST00000426385 | ENST00000366787 | PMP22 | chr17 | 15133902 | - | THBS2 | chr6 | 169616519 | - |
intron-intron | ENST00000426385 | ENST00000488355 | PMP22 | chr17 | 15133902 | - | THBS2 | chr6 | 169616519 | - |
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FusionProtFeatures for PMP22_THBS2 |
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Hgene | Tgene |
PMP22 | THBS2 |
Might be involved in growth regulation, and inmyelinization in the peripheral nervous system. | Adhesive glycoprotein that mediates cell-to-cell andcell-to-matrix interactions. Ligand for CD36 mediatingantiangiogenic properties. {ECO:0000269|PubMed:20714802}. |
![]() * 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 PMP22_THBS2 |
![]() (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 PMP22_THBS2 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for PMP22_THBS2 |
![]() (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 PMP22_THBS2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | PMP22 | C0011195 | Dejerine-Sottas Disease (disorder) | 18 | ORPHANET;UNIPROT |
Hgene | PMP22 | C0270911 | Charcot-Marie-Tooth Disease, Type Ia (disorder) | 14 | ORPHANET;UNIPROT |
Hgene | PMP22 | C0007959 | Charcot-Marie-Tooth Disease | 3 | CTD_human |
Hgene | PMP22 | C0393814 | Hereditary liability to pressure palsies | 3 | CTD_human;ORPHANET;UNIPROT |
Hgene | PMP22 | C3495591 | Charcot-Marie-Tooth Disease, Demyelinating, Type 1e | 3 | CTD_human;UNIPROT |
Hgene | PMP22 | C0031117 | Peripheral Neuropathy | 2 | CTD_human |
Hgene | PMP22 | C0008073 | Developmental Disabilities | 1 | CTD_human |
Hgene | PMP22 | C0011303 | Demyelinating Diseases | 1 | CTD_human |
Hgene | PMP22 | C0014550 | Epilepsies, Myoclonic | 1 | CTD_human |
Hgene | PMP22 | C0027888 | Hereditary Motor and Sensory Neuropathies | 1 | CTD_human |
Hgene | PMP22 | C0030554 | Paresthesia | 1 | CTD_human;HPO |
Hgene | PMP22 | C0034372 | Quadriplegia | 1 | CTD_human |
Hgene | PMP22 | C0034933 | Reflex, Abnormal | 1 | CTD_human |
Hgene | PMP22 | C0151786 | Muscle Weakness | 1 | CTD_human;HPO |
Tgene | THBS2 | C0011849 | Diabetes Mellitus | 1 | CTD_human |
Tgene | THBS2 | C0011875 | Diabetic Angiopathies | 1 | CTD_human |