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Fusion gene ID: 12378 |
FusionGeneSummary for EZR_NBAS |
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Fusion gene information | Fusion gene name: EZR_NBAS | Fusion gene ID: 12378 | Hgene | Tgene | Gene symbol | EZR | NBAS | Gene ID | 7430 | 51594 |
Gene name | ezrin | neuroblastoma amplified sequence | |
Synonyms | CVIL|CVL|HEL-S-105|VIL2 | ILFS2|NAG|SOPH | |
Cytomap | 6q25.3 | 2p24.3 | |
Type of gene | protein-coding | protein-coding | |
Description | ezrincytovillin 2epididymis secretory protein Li 105p81villin 2 (ezrin) | neuroblastoma-amplified sequenceNAG/BC035112 fusionNAG/FAM49A fusionneuroblastoma-amplified gene protein | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | P15311 | A2RRP1 | |
Ensembl transtripts involved in fusion gene | ENST00000337147, ENST00000367075, ENST00000392177, ENST00000476189, | ENST00000441750, ENST00000281513, | |
Fusion gene scores | * DoF score | 14 X 13 X 5=910 | 8 X 9 X 3=216 |
# samples | 17 | 9 | |
** MAII score | log2(17/910*10)=-2.42033179894836 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(9/216*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: EZR [Title/Abstract] AND NBAS [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 | EZR | GO:0048015 | phosphatidylinositol-mediated signaling | 25591774 |
Hgene | EZR | GO:0051017 | actin filament bundle assembly | 10793131 |
![]() (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 | BE812183 | EZR | chr6 | 159190368 | - | NBAS | chr2 | 15511301 | - | ||
ChiTaRS3.1 | BE812261 | EZR | chr6 | 159190368 | - | NBAS | chr2 | 15511301 | - |
* 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 | ENST00000337147 | ENST00000441750 | EZR | chr6 | 159190368 | - | NBAS | chr2 | 15511301 | - |
intron-intron | ENST00000337147 | ENST00000281513 | EZR | chr6 | 159190368 | - | NBAS | chr2 | 15511301 | - |
intron-intron | ENST00000367075 | ENST00000441750 | EZR | chr6 | 159190368 | - | NBAS | chr2 | 15511301 | - |
intron-intron | ENST00000367075 | ENST00000281513 | EZR | chr6 | 159190368 | - | NBAS | chr2 | 15511301 | - |
intron-intron | ENST00000392177 | ENST00000441750 | EZR | chr6 | 159190368 | - | NBAS | chr2 | 15511301 | - |
intron-intron | ENST00000392177 | ENST00000281513 | EZR | chr6 | 159190368 | - | NBAS | chr2 | 15511301 | - |
intron-intron | ENST00000476189 | ENST00000441750 | EZR | chr6 | 159190368 | - | NBAS | chr2 | 15511301 | - |
intron-intron | ENST00000476189 | ENST00000281513 | EZR | chr6 | 159190368 | - | NBAS | chr2 | 15511301 | - |
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FusionProtFeatures for EZR_NBAS |
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Hgene | Tgene |
EZR | NBAS |
Probably involved in connections of major cytoskeletalstructures to the plasma membrane. In epithelial cells, requiredfor the formation of microvilli and membrane ruffles on the apicalpole. Along with PLEKHG6, required for normal macropinocytosis.{ECO:0000269|PubMed:17881735, ECO:0000269|PubMed:18270268,ECO:0000269|PubMed:19111582}. | Involved in Golgi-to-endoplasmic reticulum (ER)retrograde transport; the function is proposed to depend on itsassociation in the NRZ complex which is believed to play a role inSNARE assembly at the ER (PubMed:19369418).{ECO:0000269|PubMed:19369418, ECO:0000305}. |
![]() * 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 EZR_NBAS |
![]() (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 EZR_NBAS |
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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 EZR_NBAS |
![]() (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 EZR_NBAS |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | EZR | C0033578 | Prostatic Neoplasms | 3 | CTD_human |
Hgene | EZR | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Hgene | EZR | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
Hgene | EZR | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
Hgene | EZR | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
Hgene | EZR | C0029408 | Degenerative polyarthritis | 1 | CTD_human |
Tgene | NBAS | C0038356 | Stomach Neoplasms | 1 | CTD_human |
Tgene | NBAS | C3541319 | SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY | 1 | ORPHANET;UNIPROT |
Tgene | NBAS | C3809651 | INFANTILE LIVER FAILURE SYNDROME 2 | 1 | ORPHANET;UNIPROT |