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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:FADS2-EZR (FusionGDB2 ID:HG9415TG7430) |
Fusion Gene Summary for FADS2-EZR |
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Fusion gene information | Fusion gene name: FADS2-EZR | Fusion gene ID: hg9415tg7430 | Hgene | Tgene | Gene symbol | FADS2 | EZR | Gene ID | 9415 | 7430 |
Gene name | fatty acid desaturase 2 | ezrin | |
Synonyms | D6D|DES6|FADSD6|LLCDL2|SLL0262|TU13 | CVIL|CVL|HEL-S-105|VIL2 | |
Cytomap | ('FADS2')('EZR') 11q12.2 | 6q25.3 | |
Type of gene | protein-coding | protein-coding | |
Description | acyl-CoA 6-desaturasedelta-6 fatty acid desaturasedelta-6-desaturaselinoleoyl-CoA desaturase (delta-6-desaturase)-like 2 | ezrincytovillin 2epididymis secretory protein Li 105p81villin 2 (ezrin) | |
Modification date | 20200313 | 20200322 | |
UniProtAcc | O95864 | P15311 | |
Ensembl transtripts involved in fusion gene | ENST00000257261, ENST00000278840, ENST00000517839, ENST00000521849, ENST00000522056, ENST00000522639, ENST00000574708, | ENST00000257261, ENST00000278840, ENST00000517839, ENST00000521849, ENST00000522056, ENST00000522639, ENST00000574708, | |
Fusion gene scores | * DoF score | 5 X 5 X 3=75 | 25 X 24 X 6=3600 |
# samples | 5 | 27 | |
** MAII score | log2(5/75*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(27/3600*10)=-3.73696559416621 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: FADS2 [Title/Abstract] AND EZR [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | FADS2(61634636)-EZR(159190821), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. |
* 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 | EZR | GO:0048015 | phosphatidylinositol-mediated signaling | 25591774 |
Tgene | EZR | GO:0051017 | actin filament bundle assembly | 10793131 |
![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
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Fusion Gene ORF analysis for FADS2-EZR |
![]() * 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 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for FADS2-EZR |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for FADS2-EZR |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:61634636/:159190821) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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Hgene | Tgene |
FADS2 | EZR |
FUNCTION: Involved in the biosynthesis of highly unsaturated fatty acids (HUFA) from the essential polyunsaturated fatty acids (PUFA) linoleic acid (LA) (18:2n-6) and alpha-linolenic acid (ALA) (18:3n-3) precursors, acting as a fatty acyl-coenzyme A (CoA) desaturase that introduces a cis double bond at carbon 6 of the fatty acyl chain. Catalyzes the first and rate limiting step in this pathway which is the desaturation of LA (18:2n-6) and ALA (18:3n-3) into gamma-linoleate (GLA) (18:3n-6) and stearidonate (18:4n-3), respectively (PubMed:12713571). Subsequently, in the biosynthetic pathway of HUFA n-3 series, it desaturates tetracosapentaenoate (24:5n-3) to tetracosahexaenoate (24:6n-3), which is then converted to docosahexaenoate (DHA)(22:6n-3), an important lipid for nervous system function (By similarity). Desaturates hexadecanate (palmitate) to produce 6Z-hexadecenoate (sapienate), a fatty acid unique to humans and major component of human sebum, that has been implicated in the development of acne and may have potent antibacterial activity (PubMed:12713571). It can also desaturate (11E)-octadecenoate (trans-vaccenoate, the predominant trans fatty acid in human milk) at carbon 6 generating (6Z,11E)-octadecadienoate (By similarity). In addition to Delta-6 activity, this enzyme exhibits Delta-8 activity with slight biases toward n-3 fatty acyl-CoA substrates (By similarity). {ECO:0000250|UniProtKB:B8R1K0, ECO:0000250|UniProtKB:Q9Z122, ECO:0000269|PubMed:12713571}. | FUNCTION: Probably involved in connections of major cytoskeletal structures to the plasma membrane. In epithelial cells, required for the formation of microvilli and membrane ruffles on the apical pole. Along with PLEKHG6, required for normal macropinocytosis. {ECO:0000269|PubMed:17881735, ECO:0000269|PubMed:18270268, ECO:0000269|PubMed:19111582}. |
![]() * 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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Fusion Gene Sequence for FADS2-EZR |
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Fusion Gene PPI Analysis for FADS2-EZR |
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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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Related Drugs for FADS2-EZR |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | FADS2 | O95864 | DB00132 | alpha-Linolenic acid | Ligand | Small molecule | Approved|Investigational|Nutraceutical |
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Related Diseases for FADS2-EZR |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | FADS2 | C0005586 | Bipolar Disorder | 2 | CTD_human;PSYGENET |
Hgene | FADS2 | C0005587 | Depression, Bipolar | 1 | CTD_human |
Hgene | FADS2 | C0009402 | Colorectal Carcinoma | 1 | CTD_human |
Hgene | FADS2 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
Hgene | FADS2 | C0019193 | Hepatitis, Toxic | 1 | CTD_human |
Hgene | FADS2 | C0023794 | Lipoidosis | 1 | CTD_human |
Hgene | FADS2 | C0024713 | Manic Disorder | 1 | CTD_human |
Hgene | FADS2 | C0036341 | Schizophrenia | 1 | PSYGENET |
Hgene | FADS2 | C0338831 | Manic | 1 | CTD_human |
Hgene | FADS2 | C0860207 | Drug-Induced Liver Disease | 1 | CTD_human |
Hgene | FADS2 | C1262760 | Hepatitis, Drug-Induced | 1 | CTD_human |
Hgene | FADS2 | C3658290 | Drug-Induced Acute Liver Injury | 1 | CTD_human |
Hgene | FADS2 | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
Hgene | FADS2 | C4279912 | Chemically-Induced Liver Toxicity | 1 | CTD_human |
Tgene | C0033578 | Prostatic Neoplasms | 3 | CTD_human | |
Tgene | C0376358 | Malignant neoplasm of prostate | 3 | CTD_human | |
Tgene | C0007097 | Carcinoma | 1 | CTD_human | |
Tgene | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human | |
Tgene | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human | |
Tgene | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human | |
Tgene | C0027627 | Neoplasm Metastasis | 1 | CTD_human | |
Tgene | C0029408 | Degenerative polyarthritis | 1 | CTD_human | |
Tgene | C0086743 | Osteoarthrosis Deformans | 1 | CTD_human | |
Tgene | C0205696 | Anaplastic carcinoma | 1 | CTD_human | |
Tgene | C0205697 | Carcinoma, Spindle-Cell | 1 | CTD_human | |
Tgene | C0205698 | Undifferentiated carcinoma | 1 | CTD_human | |
Tgene | C0205699 | Carcinomatosis | 1 | CTD_human | |
Tgene | C1257925 | Mammary Carcinoma, Animal | 1 | CTD_human |