Fusion gene information | Fusion gene name: AHI1-GLS |
Fusion gene ID: hg54806tg2744 | | Hgene | Tgene | Gene symbol | AHI1 | GLS | Gene ID | 54806 | 2744 | Gene name | Abelson helper integration site 1 | glutaminase |
Synonyms | AHI-1|JBTS3|ORF1|dJ71N10.1 | AAD20|CASGID|EIEE71|GAC|GAM|GDPAG|GLS1|KGA |
Cytomap | ('AHI1')('GLS') 6q23.3 | 2q32.2 |
Type of gene | protein-coding | protein-coding |
Description | jouberinabelson helper integration site 1 protein homologcontatins SH3 and WD40 domains | glutaminase kidney isoform, mitochondrialK-glutaminaseL-glutamine amidohydrolaseglutaminase Cglutaminase, phosphate-activated |
Modification date | 20200313 | 20200313 |
UniProtAcc | Q8N157 | . |
Ensembl transtripts involved in fusion gene | ENST00000327035, ENST00000367800, ENST00000457866, ENST00000488690, ENST00000531527, ENST00000367798, ENST00000417892, ENST00000528103, ENST00000534469, | |
Fusion gene scores | * DoF score | 10 X 11 X 6=660 | 12 X 9 X 5=540 |
# samples | 10 | 12 |
** MAII score | log2(10/660*10)=-2.72246602447109 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(12/540*10)=-2.16992500144231 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 |
Context | PubMed: AHI1 [Title/Abstract] AND GLS [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | AHI1(135818721)-GLS(191765290), # samples:1
|
Anticipated loss of major functional domain due to fusion event. | |
Hgene | Tgene |
AHI1
Q8N157 | . |
FUNCTION: Involved in vesicle trafficking and required for ciliogenesis, formation of primary non-motile cilium, and recruitment of RAB8A to the basal body of primary cilium. Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in neuronal differentiation. As a positive modulator of classical Wnt signaling, may play a crucial role in ciliary signaling during cerebellum embryonic development (PubMed:21623382). {ECO:0000250|UniProtKB:Q8K3E5, ECO:0000269|PubMed:21623382}. | 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 | AHI1 | C1837713 | JOUBERT SYNDROME 3 | 7 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | AHI1 | C0004352 | Autistic Disorder | 1 | CTD_human |
Hgene | AHI1 | C0007760 | Cerebellar Diseases | 1 | CTD_human |
Hgene | AHI1 | C0020796 | Profound Mental Retardation | 1 | CTD_human |
Hgene | AHI1 | C0025363 | Mental Retardation, Psychosocial | 1 | CTD_human |
Hgene | AHI1 | C0035304 | Retinal Degeneration | 1 | CTD_human |
Hgene | AHI1 | C0036341 | Schizophrenia | 1 | CTD_human |
Hgene | AHI1 | C0152427 | Polydactyly | 1 | GENOMICS_ENGLAND |
Hgene | AHI1 | C0162538 | Immunoglobulin A deficiency (disorder) | 1 | CTD_human |
Hgene | AHI1 | C0431399 | Familial aplasia of the vermis | 1 | GENOMICS_ENGLAND;ORPHANET |
Hgene | AHI1 | C0917816 | Mental deficiency | 1 | CTD_human |
Hgene | AHI1 | C3553264 | JOUBERT SYNDROME 17 | 1 | GENOMICS_ENGLAND |
Hgene | AHI1 | C3714756 | Intellectual Disability | 1 | CTD_human |
Hgene | AHI1 | C4274118 | Joubert syndrome with ocular defect | 1 | ORPHANET |
Hgene | AHI1 | C4551568 | Joubert syndrome 1 | 1 | ORPHANET |
Tgene | | C0000786 | Spontaneous abortion | 1 | CTD_human |
Tgene | | C0000822 | Abortion, Tubal | 1 | CTD_human |
Tgene | | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Tgene | | C0029408 | Degenerative polyarthritis | 1 | CTD_human |
Tgene | | C0086743 | Osteoarthrosis Deformans | 1 | CTD_human |
Tgene | | C3830362 | Early Pregnancy Loss | 1 | CTD_human |
Tgene | | C4552766 | Miscarriage | 1 | CTD_human |