Fusion gene information | Fusion gene name: EZR-NBAS |
Fusion gene ID: hg7430tg51594 | | Hgene | Tgene | Gene symbol | EZR | NBAS | Gene ID | 7430 | 51594 | Gene name | ezrin | NBAS subunit of NRZ tethering complex |
Synonyms | CVIL|CVL|HEL-S-105|VIL2 | ILFS2|NAG|SOPH |
Cytomap | ('EZR')('NBAS') 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 sequenceneuroblastoma-amplified gene protein |
Modification date | 20200322 | 20200313 |
UniProtAcc | P15311 | . |
Ensembl transtripts involved in fusion gene | ENST00000337147, ENST00000367075, ENST00000392177, ENST00000476189,
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Fusion gene scores | * DoF score | 26 X 22 X 10=5720 | 15 X 15 X 6=1350 |
# samples | 32 | 15 |
** MAII score | log2(32/5720*10)=-4.15987133677839 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(15/1350*10)=-3.16992500144231 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] |
Most frequent breakpoint | EZR(159190368)-NBAS(15511301), # samples:2
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Anticipated loss of major functional domain due to fusion event. | |
Hgene | Tgene |
EZR
P15311 | . |
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}. | FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | EZR | C0033578 | Prostatic Neoplasms | 3 | CTD_human |
Hgene | EZR | C0376358 | Malignant neoplasm of prostate | 3 | CTD_human |
Hgene | EZR | C0007097 | Carcinoma | 1 | 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 |
Hgene | EZR | C0086743 | Osteoarthrosis Deformans | 1 | CTD_human |
Hgene | EZR | C0205696 | Anaplastic carcinoma | 1 | CTD_human |
Hgene | EZR | C0205697 | Carcinoma, Spindle-Cell | 1 | CTD_human |
Hgene | EZR | C0205698 | Undifferentiated carcinoma | 1 | CTD_human |
Hgene | EZR | C0205699 | Carcinomatosis | 1 | CTD_human |
Hgene | EZR | C1257925 | Mammary Carcinoma, Animal | 1 | CTD_human |
Tgene | | C3541319 | SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY | 2 | GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Tgene | | C0021051 | Immunologic Deficiency Syndromes | 1 | GENOMICS_ENGLAND |
Tgene | | C0024623 | Malignant neoplasm of stomach | 1 | CTD_human |
Tgene | | C0038356 | Stomach Neoplasms | 1 | CTD_human |
Tgene | | C0235874 | Disease Exacerbation | 1 | CTD_human |
Tgene | | C0424605 | Developmental delay (disorder) | 1 | GENOMICS_ENGLAND |
Tgene | | C0557874 | Global developmental delay | 1 | GENOMICS_ENGLAND |
Tgene | | C1390474 | Increased susceptibility to fractures | 1 | GENOMICS_ENGLAND |
Tgene | | C1708349 | Hereditary Diffuse Gastric Cancer | 1 | CTD_human |
Tgene | | C3809651 | INFANTILE LIVER FAILURE SYNDROME 2 | 1 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |