Fusion gene information | Fusion gene name: HOMER1-ITM2B |
Fusion gene ID: hg9456tg9445 | | Hgene | Tgene | Gene symbol | HOMER1 | ITM2B | Gene ID | 9456 | 9445 | Gene name | homer scaffold protein 1 | integral membrane protein 2B |
Synonyms | HOMER|HOMER1A|HOMER1B|HOMER1C|SYN47|Ves-1 | ABRI|BRI|BRI2|BRICD2B|E25B|E3-16|FBD|RDGCA|imBRI2 |
Cytomap | ('HOMER1')('ITM2B') 5q14.1 | 13q14.2 |
Type of gene | protein-coding | protein-coding |
Description | homer protein homolog 1homer homolog 1homer scaffolding protein 1homer, neuronal immediate early gene, 1homer-1 | integral membrane protein 2BABri/ADan amyloid peptideBRICHOS domain containing 2Bepididymis secretory sperm binding proteinimmature BRI2transmembrane protein BRI |
Modification date | 20200313 | 20200313 |
UniProtAcc | . | . |
Ensembl transtripts involved in fusion gene | ENST00000282260, ENST00000334082, ENST00000508576, ENST00000535690,
| ENST00000282260, ENST00000334082, ENST00000508576, ENST00000535690,
|
Fusion gene scores | * DoF score | 7 X 6 X 5=210 | 19 X 11 X 7=1463 |
# samples | 8 | 22 |
** MAII score | log2(8/210*10)=-1.39231742277876 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(22/1463*10)=-2.73335434061383 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 |
Context | PubMed: HOMER1 [Title/Abstract] AND ITM2B [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | HOMER1(78779313)-ITM2B(48835524), # samples:1
|
Anticipated loss of major functional domain due to fusion event. | |
Hgene | Tgene |
. | . |
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: 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 | HOMER1 | C0036341 | Schizophrenia | 4 | PSYGENET |
Hgene | HOMER1 | C0011570 | Mental Depression | 3 | PSYGENET |
Hgene | HOMER1 | C0011581 | Depressive disorder | 3 | PSYGENET |
Hgene | HOMER1 | C0009171 | Cocaine Abuse | 2 | CTD_human |
Hgene | HOMER1 | C0236736 | Cocaine-Related Disorders | 2 | CTD_human |
Hgene | HOMER1 | C0600427 | Cocaine Dependence | 2 | CTD_human |
Hgene | HOMER1 | C0013221 | Drug toxicity | 1 | CTD_human |
Hgene | HOMER1 | C0013386 | Dyskinesia, Drug-Induced | 1 | CTD_human |
Hgene | HOMER1 | C0018524 | Hallucinations | 1 | CTD_human |
Hgene | HOMER1 | C0029226 | Hallucinations, Organic | 1 | CTD_human |
Hgene | HOMER1 | C0041696 | Unipolar Depression | 1 | PSYGENET |
Hgene | HOMER1 | C0041755 | Adverse reaction to drug | 1 | CTD_human |
Hgene | HOMER1 | C0233759 | Hallucinations, Elementary | 1 | CTD_human |
Hgene | HOMER1 | C0233762 | Hallucinations, Auditory | 1 | CTD_human |
Hgene | HOMER1 | C0233763 | Hallucinations, Visual | 1 | CTD_human |
Hgene | HOMER1 | C0233765 | Hallucinations, Olfactory | 1 | CTD_human |
Hgene | HOMER1 | C0233766 | Hallucinations, Gustatory | 1 | CTD_human |
Hgene | HOMER1 | C0233767 | Hallucinations, Tactile | 1 | CTD_human |
Hgene | HOMER1 | C0233773 | Hallucinations, Hypnagogic | 1 | CTD_human |
Hgene | HOMER1 | C0233774 | Hallucinations, Somatic | 1 | CTD_human |
Hgene | HOMER1 | C0233775 | Hallucinations, Mood Congruent | 1 | CTD_human |
Hgene | HOMER1 | C0233776 | Hallucinations, Mood Incongruent | 1 | CTD_human |
Hgene | HOMER1 | C0235153 | Hallucinations, Sensory | 1 | CTD_human |
Hgene | HOMER1 | C0424068 | Verbal auditory hallucinations | 1 | CTD_human |
Hgene | HOMER1 | C0424071 | Hallucinations, Visual, Unformed | 1 | CTD_human |
Hgene | HOMER1 | C0424072 | Hallucinations, Visual, Formed | 1 | CTD_human |
Hgene | HOMER1 | C0424082 | Hallucinations, Hypnapompic | 1 | CTD_human |
Hgene | HOMER1 | C0424083 | Hallucinations, Dissociative | 1 | CTD_human |
Hgene | HOMER1 | C0544668 | Hallucinations, Kinesthetic | 1 | CTD_human |
Hgene | HOMER1 | C0563608 | Hallucinations, Formed, of People | 1 | CTD_human |
Hgene | HOMER1 | C0563661 | Hallucinations, Reflex | 1 | CTD_human |
Hgene | HOMER1 | C0751088 | Dyskinesia, Medication-Induced | 1 | CTD_human |
Hgene | HOMER1 | C0751175 | Hallucination of Body Sensation | 1 | CTD_human |
Hgene | HOMER1 | C0751176 | Hallucinations, Internal Body Sensation | 1 | CTD_human |
Hgene | HOMER1 | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
Tgene | | C1867773 | CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1 | 2 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Tgene | | C0020538 | Hypertensive disease | 1 | CTD_human |
Tgene | | C0038454 | Cerebrovascular accident | 1 | GENOMICS_ENGLAND |
Tgene | | C0270790 | Quadriparesis | 1 | GENOMICS_ENGLAND |
Tgene | | C0553692 | Brain hemorrhage | 1 | GENOMICS_ENGLAND |
Tgene | | C0575059 | Spastic tetraparesis | 1 | GENOMICS_ENGLAND |
Tgene | | C0948008 | Ischemic stroke | 1 | GENOMICS_ENGLAND |
Tgene | | C1861735 | Dementia, familial Danish | 1 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Tgene | | C4015146 | RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES | 1 | CTD_human;ORPHANET;UNIPROT |