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Fusion gene ID: 27744 |
FusionGeneSummary for PLXNB1_ANKLE2 |
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Fusion gene information | Fusion gene name: PLXNB1_ANKLE2 | Fusion gene ID: 27744 | Hgene | Tgene | Gene symbol | PLXNB1 | ANKLE2 | Gene ID | 5364 | 23141 |
Gene name | plexin B1 | ankyrin repeat and LEM domain containing 2 | |
Synonyms | PLEXIN-B1|PLXN5|SEP | KIAA0692|LEMD7|Lem4|MCPH16 | |
Cytomap | 3p21.31 | 12q24.33 | |
Type of gene | protein-coding | protein-coding | |
Description | plexin-B1plexin 5semaphorin receptor SEP | ankyrin repeat and LEM domain-containing protein 2LEM domain containing 7LEM domain-containing protein 4 | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | O43157 | Q86XL3 | |
Ensembl transtripts involved in fusion gene | ENST00000296440, ENST00000358459, ENST00000358536, ENST00000448774, ENST00000456774, ENST00000465117, | ENST00000539605, ENST00000357997, ENST00000542282, ENST00000542657, ENST00000542374, ENST00000337516, | |
Fusion gene scores | * DoF score | 7 X 8 X 5=280 | 5 X 5 X 1=25 |
# samples | 7 | 5 | |
** MAII score | log2(7/280*10)=-2 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/25*10)=1 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: PLXNB1 [Title/Abstract] AND ANKLE2 [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 | PLXNB1 | GO:0007162 | negative regulation of cell adhesion | 15218527 |
Hgene | PLXNB1 | GO:0008360 | regulation of cell shape | 19843518 |
Hgene | PLXNB1 | GO:0051493 | regulation of cytoskeleton organization | 19843518 |
Hgene | PLXNB1 | GO:0071526 | semaphorin-plexin signaling pathway | 15218527|19843518 |
Tgene | ANKLE2 | GO:0007417 | central nervous system development | 25259927 |
Tgene | ANKLE2 | GO:0035307 | positive regulation of protein dephosphorylation | 22770216 |
Tgene | ANKLE2 | GO:0042326 | negative regulation of phosphorylation | 22770216 |
Tgene | ANKLE2 | GO:0043066 | negative regulation of apoptotic process | 25259927 |
![]() (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 | BG980949 | PLXNB1 | chr3 | 48466284 | + | ANKLE2 | chr12 | 133312312 | - |
* 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-intron | ENST00000296440 | ENST00000539605 | PLXNB1 | chr3 | 48466284 | + | ANKLE2 | chr12 | 133312312 | - |
intron-intron | ENST00000296440 | ENST00000357997 | PLXNB1 | chr3 | 48466284 | + | ANKLE2 | chr12 | 133312312 | - |
intron-intron | ENST00000296440 | ENST00000542282 | PLXNB1 | chr3 | 48466284 | + | ANKLE2 | chr12 | 133312312 | - |
intron-intron | ENST00000296440 | ENST00000542657 | PLXNB1 | chr3 | 48466284 | + | ANKLE2 | chr12 | 133312312 | - |
intron-intron | ENST00000296440 | ENST00000542374 | PLXNB1 | chr3 | 48466284 | + | ANKLE2 | chr12 | 133312312 | - |
intron-intron | ENST00000296440 | ENST00000337516 | PLXNB1 | chr3 | 48466284 | + | ANKLE2 | chr12 | 133312312 | - |
intron-intron | ENST00000358459 | ENST00000539605 | PLXNB1 | chr3 | 48466284 | + | ANKLE2 | chr12 | 133312312 | - |
intron-intron | ENST00000358459 | ENST00000357997 | PLXNB1 | chr3 | 48466284 | + | ANKLE2 | chr12 | 133312312 | - |
intron-intron | ENST00000358459 | ENST00000542282 | PLXNB1 | chr3 | 48466284 | + | ANKLE2 | chr12 | 133312312 | - |
intron-intron | ENST00000358459 | ENST00000542657 | PLXNB1 | chr3 | 48466284 | + | ANKLE2 | chr12 | 133312312 | - |
intron-intron | ENST00000358459 | ENST00000542374 | PLXNB1 | chr3 | 48466284 | + | ANKLE2 | chr12 | 133312312 | - |
intron-intron | ENST00000358459 | ENST00000337516 | PLXNB1 | chr3 | 48466284 | + | ANKLE2 | chr12 | 133312312 | - |
intron-intron | ENST00000358536 | ENST00000539605 | PLXNB1 | chr3 | 48466284 | + | ANKLE2 | chr12 | 133312312 | - |
intron-intron | ENST00000358536 | ENST00000357997 | PLXNB1 | chr3 | 48466284 | + | ANKLE2 | chr12 | 133312312 | - |
intron-intron | ENST00000358536 | ENST00000542282 | PLXNB1 | chr3 | 48466284 | + | ANKLE2 | chr12 | 133312312 | - |
intron-intron | ENST00000358536 | ENST00000542657 | PLXNB1 | chr3 | 48466284 | + | ANKLE2 | chr12 | 133312312 | - |
intron-intron | ENST00000358536 | ENST00000542374 | PLXNB1 | chr3 | 48466284 | + | ANKLE2 | chr12 | 133312312 | - |
intron-intron | ENST00000358536 | ENST00000337516 | PLXNB1 | chr3 | 48466284 | + | ANKLE2 | chr12 | 133312312 | - |
intron-intron | ENST00000448774 | ENST00000539605 | PLXNB1 | chr3 | 48466284 | + | ANKLE2 | chr12 | 133312312 | - |
intron-intron | ENST00000448774 | ENST00000357997 | PLXNB1 | chr3 | 48466284 | + | ANKLE2 | chr12 | 133312312 | - |
intron-intron | ENST00000448774 | ENST00000542282 | PLXNB1 | chr3 | 48466284 | + | ANKLE2 | chr12 | 133312312 | - |
intron-intron | ENST00000448774 | ENST00000542657 | PLXNB1 | chr3 | 48466284 | + | ANKLE2 | chr12 | 133312312 | - |
intron-intron | ENST00000448774 | ENST00000542374 | PLXNB1 | chr3 | 48466284 | + | ANKLE2 | chr12 | 133312312 | - |
intron-intron | ENST00000448774 | ENST00000337516 | PLXNB1 | chr3 | 48466284 | + | ANKLE2 | chr12 | 133312312 | - |
intron-intron | ENST00000456774 | ENST00000539605 | PLXNB1 | chr3 | 48466284 | + | ANKLE2 | chr12 | 133312312 | - |
intron-intron | ENST00000456774 | ENST00000357997 | PLXNB1 | chr3 | 48466284 | + | ANKLE2 | chr12 | 133312312 | - |
intron-intron | ENST00000456774 | ENST00000542282 | PLXNB1 | chr3 | 48466284 | + | ANKLE2 | chr12 | 133312312 | - |
intron-intron | ENST00000456774 | ENST00000542657 | PLXNB1 | chr3 | 48466284 | + | ANKLE2 | chr12 | 133312312 | - |
intron-intron | ENST00000456774 | ENST00000542374 | PLXNB1 | chr3 | 48466284 | + | ANKLE2 | chr12 | 133312312 | - |
intron-intron | ENST00000456774 | ENST00000337516 | PLXNB1 | chr3 | 48466284 | + | ANKLE2 | chr12 | 133312312 | - |
intron-intron | ENST00000465117 | ENST00000539605 | PLXNB1 | chr3 | 48466284 | + | ANKLE2 | chr12 | 133312312 | - |
intron-intron | ENST00000465117 | ENST00000357997 | PLXNB1 | chr3 | 48466284 | + | ANKLE2 | chr12 | 133312312 | - |
intron-intron | ENST00000465117 | ENST00000542282 | PLXNB1 | chr3 | 48466284 | + | ANKLE2 | chr12 | 133312312 | - |
intron-intron | ENST00000465117 | ENST00000542657 | PLXNB1 | chr3 | 48466284 | + | ANKLE2 | chr12 | 133312312 | - |
intron-intron | ENST00000465117 | ENST00000542374 | PLXNB1 | chr3 | 48466284 | + | ANKLE2 | chr12 | 133312312 | - |
intron-intron | ENST00000465117 | ENST00000337516 | PLXNB1 | chr3 | 48466284 | + | ANKLE2 | chr12 | 133312312 | - |
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FusionProtFeatures for PLXNB1_ANKLE2 |
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Hgene | Tgene |
PLXNB1 | ANKLE2 |
Receptor for SEMA4D. Plays a role in RHOA activation andsubsequent changes of the actin cytoskeleton. Plays a role in axonguidance, invasive growth and cell migration.{ECO:0000269|PubMed:12196628, ECO:0000269|PubMed:12198496,ECO:0000269|PubMed:15210733, ECO:0000269|PubMed:19843518,ECO:0000269|PubMed:20877282, ECO:0000269|PubMed:21912513}. | Involved in mitotic nuclear envelope reassembly bypromoting dephosphorylation of BAF/BANF1 during mitotic exit.Coordinates the control of BAF/BANF1 dephosphorylation byinhibiting VRK1 kinase and promoting dephosphorylation ofBAF/BANF1 by protein phosphatase 2A (PP2A), thereby facilitatingnuclear envelope assembly. It is unclear whether it acts as a realPP2A regulatory subunit or whether it is involved in recruitmentof the PP2A complex. Involved in brain development(PubMed:25259927). {ECO:0000269|PubMed:22770216,ECO:0000269|PubMed:25259927}. |
![]() * 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 PLXNB1_ANKLE2 |
![]() (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 PLXNB1_ANKLE2 |
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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 PLXNB1_ANKLE2 |
![]() (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 PLXNB1_ANKLE2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | ANKLE2 | C4225249 | MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE | 1 | UNIPROT |