Fusion gene information | Fusion gene name: KIF25-AS1-LMNA |
Fusion gene ID: hg100505879tg4000 | | Hgene | Tgene | Gene symbol | KIF25-AS1 | LMNA | Gene ID | 100505879 | 4000 | Gene name | KIF25 antisense RNA 1 | lamin A/C |
Synonyms | C6orf54|HGC6.1.1|NCRNA00300 | CDCD1|CDDC|CMD1A|CMT2B1|EMD2|FPL|FPLD|FPLD2|HGPS|IDC|LDP1|LFP|LGMD1B|LMN1|LMNC|LMNL1|MADA|PRO1 |
Cytomap | ('KIF25-AS1')('LMNA') 6q27 | 1q22 |
Type of gene | ncRNA | protein-coding |
Description | KIF25 antisense RNA 1 (non-protein coding) | lamin70 kDa laminepididymis secretory sperm binding proteinlamin A/C-like 1mandibuloacral dysplasia type Aprelamin-A/Crenal carcinoma antigen NY-REN-32 |
Modification date | 20200313 | 20200329 |
UniProtAcc | . | . |
Ensembl transtripts involved in fusion gene | ENST00000456585, | |
Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 13 X 16 X 6=1248 |
# samples | 1 | 16 |
** MAII score | log2(1/1*10)=3.32192809488736 | log2(16/1248*10)=-2.96347412397489 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 |
Context | PubMed: KIF25-AS1 [Title/Abstract] AND LMNA [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | KIF25-AS1(168397626)-LMNA(156084778), # 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 |
Tgene | | C1449563 | Cardiomyopathy, Familial Idiopathic | 24 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Tgene | | C1720860 | Familial Partial Lipodystrophy, Type 2 | 19 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Tgene | | C0033300 | Progeria | 16 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Tgene | | C0410190 | Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) | 10 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Tgene | | C0432291 | Mandibuloacral dysostosis | 9 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Tgene | | C1720859 | Familial Partial Lipodystrophy, Type 1 | 6 | CTD_human;ORPHANET |
Tgene | | C0271694 | Familial partial lipodystrophy | 5 | CTD_human;GENOMICS_ENGLAND |
Tgene | | C0406585 | Lethal tight skin contracture syndrome (disorder) | 5 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Tgene | | C0796031 | Malouf syndrome | 5 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Tgene | | C0007193 | Cardiomyopathy, Dilated | 4 | CTD_human |
Tgene | | C1720861 | Familial Partial Lipodystrophy, Type 3 | 4 | CTD_human |
Tgene | | C2750035 | Emery-Dreifuss Muscular Dystrophy 3 | 4 | GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Tgene | | C2750785 | MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder) | 4 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Tgene | | C0410189 | Muscular Dystrophy, Emery-Dreifuss | 3 | CTD_human |
Tgene | | C0686353 | Muscular Dystrophies, Limb-Girdle | 3 | CTD_human;GENOMICS_ENGLAND |
Tgene | | C0751337 | X-Linked Emery-Dreifuss Muscular Dystrophy | 3 | CTD_human |
Tgene | | C1450051 | Autosomal Recessive Emery-Dreifuss Muscular Dystrophy | 3 | CTD_human;ORPHANET |
Tgene | | C1854154 | Charcot-Marie-Tooth disease, Type 2B1 | 3 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Tgene | | C1857829 | Heart-hand syndrome, Slovenian type | 3 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Tgene | | C1832931 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2 | 2 | ORPHANET |
Tgene | | C4275075 | Atypical Werner syndrome | 2 | ORPHANET |
Tgene | | C0004245 | Atrioventricular Block | 1 | CTD_human |
Tgene | | C0004331 | Auriculo-Ventricular Dissociation | 1 | CTD_human |
Tgene | | C0011644 | Scleroderma | 1 | CTD_human |
Tgene | | C0016508 | Congenital Foot Deformity | 1 | CTD_human |
Tgene | | C0017668 | Focal glomerulosclerosis | 1 | GENOMICS_ENGLAND |
Tgene | | C0018566 | Congenital Hand Deformities | 1 | CTD_human |
Tgene | | C0018794 | Heart Block | 1 | CTD_human |
Tgene | | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human |
Tgene | | C0036420 | Localized scleroderma | 1 | CTD_human |
Tgene | | C0037188 | Sinoatrial Block | 1 | CTD_human |
Tgene | | C0042514 | Tachycardia, Ventricular | 1 | CTD_human |
Tgene | | C0085298 | Sudden Cardiac Death | 1 | CTD_human |
Tgene | | C0152013 | Adenocarcinoma of lung (disorder) | 1 | CTD_human |
Tgene | | C0263409 | Linear Scleroderma | 1 | CTD_human |
Tgene | | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
Tgene | | C0546264 | Congenital Fiber Type Disproportion | 1 | GENOMICS_ENGLAND |
Tgene | | C0796083 | Najjar syndrome | 1 | ORPHANET |
Tgene | | C1136321 | HIV-Associated Lipodystrophy Syndrome | 1 | CTD_human |
Tgene | | C1136382 | Sclerocystic Ovaries | 1 | CTD_human |
Tgene | | C1527383 | Morphea | 1 | CTD_human |
Tgene | | C1720824 | Sudden Cardiac Arrest | 1 | CTD_human |
Tgene | | C4049702 | Focal Segmental Glomerulosclerosis, Not Otherwise Specified | 1 | GENOMICS_ENGLAND |
Tgene | | C4750858 | LMNA-related cardiocutaneous progeria syndrome | 1 | ORPHANET |