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Fusion gene ID: 29075 |
FusionGeneSummary for PSD3_NEFL |
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Fusion gene information | Fusion gene name: PSD3_NEFL | Fusion gene ID: 29075 | Hgene | Tgene | Gene symbol | PSD3 | NEFL | Gene ID | 23362 | 4747 |
Gene name | pleckstrin and Sec7 domain containing 3 | neurofilament light | |
Synonyms | EFA6D|EFA6R|HCA67 | CMT1F|CMT2E|CMTDIG|NF-L|NF68|NFL|PPP1R110 | |
Cytomap | 8p22 | 8p21.2 | |
Type of gene | protein-coding | protein-coding | |
Description | PH and SEC7 domain-containing protein 3ADP-ribosylation factor guanine nucleotide factor 6epididymis tissue protein Li 20mPexchange factor for ADP-ribosylation factor guanine nucleotide factor 6exchange factor for ADP-ribosylation factor guanine nucle | neurofilament light polypeptidelight molecular weight neurofilament proteinneurofilament protein, light chainneurofilament subunit NF-Lneurofilament triplet L proteinneurofilament, light polypeptide 68kDaprotein phosphatase 1, regulatory subunit 110 | |
Modification date | 20180523 | 20180522 | |
UniProtAcc | Q9NYI0 | ||
Ensembl transtripts involved in fusion gene | ENST00000327040, ENST00000440756, ENST00000286485, ENST00000428502, ENST00000523619, ENST00000520789, | ENST00000221169, | |
Fusion gene scores | * DoF score | 8 X 7 X 6=336 | 3 X 2 X 2=12 |
# samples | 8 | 3 | |
** MAII score | log2(8/336*10)=-2.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/12*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: PSD3 [Title/Abstract] AND NEFL [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 |
Tgene | NEFL | GO:0033693 | neurofilament bundle assembly | 12432080 |
![]() (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 | LD | PRAD | TCGA-MG-AAMC-01A | PSD3 | chr8 | 18871073 | - | NEFL | chr8 | 24811819 | - |
* 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 | ENST00000327040 | ENST00000221169 | PSD3 | chr8 | 18871073 | - | NEFL | chr8 | 24811819 | - |
5CDS-5UTR | ENST00000440756 | ENST00000221169 | PSD3 | chr8 | 18871073 | - | NEFL | chr8 | 24811819 | - |
intron-5UTR | ENST00000286485 | ENST00000221169 | PSD3 | chr8 | 18871073 | - | NEFL | chr8 | 24811819 | - |
intron-5UTR | ENST00000428502 | ENST00000221169 | PSD3 | chr8 | 18871073 | - | NEFL | chr8 | 24811819 | - |
intron-5UTR | ENST00000523619 | ENST00000221169 | PSD3 | chr8 | 18871073 | - | NEFL | chr8 | 24811819 | - |
intron-5UTR | ENST00000520789 | ENST00000221169 | PSD3 | chr8 | 18871073 | - | NEFL | chr8 | 24811819 | - |
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FusionProtFeatures for PSD3_NEFL |
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Hgene | Tgene |
PSD3 | NEFL |
Guanine nucleotide exchange factor for ARF6.{ECO:0000250}. | Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. |
![]() * 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 PSD3_NEFL |
![]() (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 PSD3_NEFL |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
PSD3 | MLH1, PMS2, ARAP1, MX1, TP53, CTDSPL, PTPRA, PTPRG | NEFL | PKN1, NEFH, TSC1, SPTAN1, MAP2, YWHAG, SIRT7, TERF1, PPP1CC, CHD3, PIAS4, VIM, BRD7, PARK2, KDM1A, PRMT6, NDN, CCNC, KIFC3, KRT15, USP2, PDE4DIP, PPP1R16B, NME7, TEX11, ENKD1, TXLNB, PPP1R18, OBSL1, CCDC8, HOXB5, MRPL4, SKAP1, PSG9, C16orf70, CRYAB, APP, GAN, CDC14A, NEFM, BICD2, SYNC, BICD1, RSPRY1, DPP9, C18orf8, FAM83H, RABEP1, SEC16A, AR |
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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 PSD3_NEFL |
![]() (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 PSD3_NEFL |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | PSD3 | C0017638 | Glioma | 1 | CTD_human |
Hgene | PSD3 | C0036341 | Schizophrenia | 1 | PSYGENET |
Hgene | PSD3 | C0236733 | Amphetamine-Related Disorders | 1 | CTD_human |
Tgene | NEFL | C1843225 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) | 7 | CTD_human;ORPHANET;UNIPROT |
Tgene | NEFL | C1843164 | Charcot-Marie-Tooth disease, demyelinating, Type 1F | 5 | CTD_human;ORPHANET;UNIPROT |
Tgene | NEFL | C0005586 | Bipolar Disorder | 3 | PSYGENET |
Tgene | NEFL | C0036341 | Schizophrenia | 2 | PSYGENET |
Tgene | NEFL | C0041696 | Unipolar Depression | 2 | PSYGENET |
Tgene | NEFL | C1269683 | Major Depressive Disorder | 2 | PSYGENET |