Fusion gene information | Fusion gene name: EHHADH-EZR |
Fusion gene ID: hg1962tg7430 | | Hgene | Tgene | Gene symbol | EHHADH | EZR | Gene ID | 1962 | 7430 | Gene name | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | ezrin |
Synonyms | ECHD|FRTS3|L-PBE|LBFP|LBP|PBFE | CVIL|CVL|HEL-S-105|VIL2 |
Cytomap | ('EHHADH')('EZR') 3q27.2 | 6q25.3 |
Type of gene | protein-coding | protein-coding |
Description | peroxisomal bifunctional enzyme3,2-trans-enoyl-CoA isomeraseL-3-hydroxyacyl-CoA dehydrogenaseL-bifunctional protein, peroxisomalPBEenoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenaseenoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase | ezrincytovillin 2epididymis secretory protein Li 105p81villin 2 (ezrin) |
Modification date | 20200327 | 20200322 |
UniProtAcc | . | P15311 |
Ensembl transtripts involved in fusion gene | ENST00000231887, ENST00000440662, ENST00000456310, ENST00000475987,
| |
Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 25 X 24 X 6=3600 |
# samples | 2 | 27 |
** MAII score | log2(2/8*10)=1.32192809488736 | log2(27/3600*10)=-3.73696559416621 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 |
Context | PubMed: EHHADH [Title/Abstract] AND EZR [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | EHHADH(184929395)-EZR(159186782), # samples:1
|
Anticipated loss of major functional domain due to fusion event. | |
Hgene | Tgene |
. | EZR
P15311 |
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}. | 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}. |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | EHHADH | C0005586 | Bipolar Disorder | 1 | PSYGENET |
Hgene | EHHADH | C0013146 | Drug abuse | 1 | CTD_human |
Hgene | EHHADH | C0013170 | Drug habituation | 1 | CTD_human |
Hgene | EHHADH | C0013222 | Drug Use Disorders | 1 | CTD_human |
Hgene | EHHADH | C0029231 | Organic Mental Disorders, Substance-Induced | 1 | CTD_human |
Hgene | EHHADH | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Hgene | EHHADH | C0038580 | Substance Dependence | 1 | CTD_human |
Hgene | EHHADH | C0038586 | Substance Use Disorders | 1 | CTD_human |
Hgene | EHHADH | C0236969 | Substance-Related Disorders | 1 | CTD_human |
Hgene | EHHADH | C0341703 | Adult Fanconi syndrome | 1 | CTD_human;ORPHANET |
Hgene | EHHADH | C0342870 | Bifunctional peroxisomal enzyme deficiency | 1 | ORPHANET |
Hgene | EHHADH | C0376358 | Malignant neoplasm of prostate | 1 | CTD_human |
Hgene | EHHADH | C0740858 | Substance abuse problem | 1 | CTD_human |
Hgene | EHHADH | C1510472 | Drug Dependence | 1 | CTD_human |
Hgene | EHHADH | C3810100 | FANCONI RENOTUBULAR SYNDROME 3 | 1 | GENOMICS_ENGLAND;UNIPROT |
Hgene | EHHADH | C4316881 | Prescription Drug Abuse | 1 | CTD_human |
Hgene | EHHADH | C4551503 | FANCONI RENOTUBULAR SYNDROME 1 | 1 | ORPHANET |
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 |