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Fusion gene ID: 7663 |
FusionGeneSummary for CNKSR3_PLP1 |
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Fusion gene information | Fusion gene name: CNKSR3_PLP1 | Fusion gene ID: 7663 | Hgene | Tgene | Gene symbol | CNKSR3 | PLP1 | Gene ID | 154043 | 5354 |
Gene name | CNKSR family member 3 | proteolipid protein 1 | |
Synonyms | CNK3|CNK3/IPCEF1|MAGI1 | GPM6C|HLD1|MMPL|PLP|PLP/DM20|PMD|SPG2 | |
Cytomap | 6q25.2 | Xq22.2 | |
Type of gene | protein-coding | protein-coding | |
Description | connector enhancer of kinase suppressor of ras 3CNK homolog protein 3connector enhancer of KSR 3maguin-like proteinmembrane associated guanylate kinase, WW and PDZ domain containing 1membrane-associated guanylate kinase-interacting protein-like 1 | myelin proteolipid proteinlipophilinmajor myelin proteolipid protein | |
Modification date | 20180522 | 20180523 | |
UniProtAcc | Q6P9H4 | P60201 | |
Ensembl transtripts involved in fusion gene | ENST00000607772, ENST00000479339, ENST00000433165, | ENST00000418604, ENST00000303958, ENST00000361621, ENST00000466486, | |
Fusion gene scores | * DoF score | 6 X 8 X 2=96 | 9 X 8 X 2=144 |
# samples | 8 | 9 | |
** MAII score | log2(8/96*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(9/144*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: CNKSR3 [Title/Abstract] AND PLP1 [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 |
![]() (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 | SARC | TCGA-HB-A3YV-01A | CNKSR3 | chr6 | 154831197 | - | PLP1 | chrX | 103031781 | + |
* 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 |
5CDS-5UTR | ENST00000607772 | ENST00000418604 | CNKSR3 | chr6 | 154831197 | - | PLP1 | chrX | 103031781 | + |
5CDS-5UTR | ENST00000607772 | ENST00000303958 | CNKSR3 | chr6 | 154831197 | - | PLP1 | chrX | 103031781 | + |
5CDS-5UTR | ENST00000607772 | ENST00000361621 | CNKSR3 | chr6 | 154831197 | - | PLP1 | chrX | 103031781 | + |
5CDS-intron | ENST00000607772 | ENST00000466486 | CNKSR3 | chr6 | 154831197 | - | PLP1 | chrX | 103031781 | + |
intron-5UTR | ENST00000479339 | ENST00000418604 | CNKSR3 | chr6 | 154831197 | - | PLP1 | chrX | 103031781 | + |
intron-5UTR | ENST00000479339 | ENST00000303958 | CNKSR3 | chr6 | 154831197 | - | PLP1 | chrX | 103031781 | + |
intron-5UTR | ENST00000479339 | ENST00000361621 | CNKSR3 | chr6 | 154831197 | - | PLP1 | chrX | 103031781 | + |
intron-intron | ENST00000479339 | ENST00000466486 | CNKSR3 | chr6 | 154831197 | - | PLP1 | chrX | 103031781 | + |
intron-5UTR | ENST00000433165 | ENST00000418604 | CNKSR3 | chr6 | 154831197 | - | PLP1 | chrX | 103031781 | + |
intron-5UTR | ENST00000433165 | ENST00000303958 | CNKSR3 | chr6 | 154831197 | - | PLP1 | chrX | 103031781 | + |
intron-5UTR | ENST00000433165 | ENST00000361621 | CNKSR3 | chr6 | 154831197 | - | PLP1 | chrX | 103031781 | + |
intron-intron | ENST00000433165 | ENST00000466486 | CNKSR3 | chr6 | 154831197 | - | PLP1 | chrX | 103031781 | + |
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FusionProtFeatures for CNKSR3_PLP1 |
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Hgene | Tgene |
CNKSR3 | PLP1 |
Involved in transepithelial sodium transport. Regulatesaldosterone-induced and epithelial sodium channel (ENaC)-mediatedsodium transport through regulation of ENaC cell surfaceexpression. Acts as a scaffold protein coordinating the assemblyof an ENaC-regulatory complex (ERC).{ECO:0000269|PubMed:22851176}. | This is the major myelin protein from the centralnervous system. It plays an important role in the formation ormaintenance of the multilamellar structure of myelin. |
![]() * 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 CNKSR3_PLP1 |
![]() (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 CNKSR3_PLP1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
CNKSR3 | NMI, CNOT2, ARHGAP39, VCPIP1, BBS7, DIP2B, HAVCR2, COLGALT2, NISCH | PLP1 | MBP, ITGAV, CLN8, PTPRN, ITGB5, CALR, AKT1, REEP6, FGFR1OP2, SLMAP, REEP5, STRN, SIKE1, C4orf32, RTN2, STRN4, PDDC1, STRIP1, RNF114, NRAS, LMNA |
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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 CNKSR3_PLP1 |
![]() (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 CNKSR3_PLP1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | PLP1 | C0205711 | Pelizaeus-Merzbacher Disease | 31 | CTD_human;HPO;UNIPROT |
Tgene | PLP1 | C1839264 | SPASTIC PARAPLEGIA 2, X-LINKED (disorder) | 9 | CTD_human;ORPHANET;UNIPROT |
Tgene | PLP1 | C0036341 | Schizophrenia | 4 | PSYGENET |
Tgene | PLP1 | C0009171 | Cocaine Abuse | 2 | PSYGENET |
Tgene | PLP1 | C2673482 | Increased susceptibility to schizophrenia | 1 | PSYGENET |