Fusion gene information | Fusion gene name: LRBA-ADCY5 |
Fusion gene ID: hg987tg111 | | Hgene | Tgene | Gene symbol | LRBA | ADCY5 | Gene ID | 987 | 111 | Gene name | LPS responsive beige-like anchor protein | adenylate cyclase 5 |
Synonyms | BGL|CDC4L|CVID8|LAB300|LBA | AC5|FDFM |
Cytomap | ('LRBA')('ADCY5') 4q31.3 | 3q21.1 |
Type of gene | protein-coding | protein-coding |
Description | lipopolysaccharide-responsive and beige-like anchor proteinCDC4-like proteinLPS-responsive vesicle trafficking, beach and anchor containingvesicle trafficking, beach and anchor containing | adenylate cyclase type 5ATP pyrophosphate-lyase 5adenylate cyclase type Vadenylyl cyclase 5epididymis secretory sperm binding protein |
Modification date | 20200320 | 20200313 |
UniProtAcc | . | O95622 |
Ensembl transtripts involved in fusion gene | ENST00000357115, ENST00000503716, ENST00000507224, ENST00000510413, ENST00000535741, | |
Fusion gene scores | * DoF score | 31 X 32 X 15=14880 | 6 X 6 X 3=108 |
# samples | 41 | 7 |
** MAII score | log2(41/14880*10)=-5.18160680648995 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/108*10)=-0.625604485218502 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 |
Context | PubMed: LRBA [Title/Abstract] AND ADCY5 [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | LRBA(151370422)-ADCY5(123001159), # samples:1
|
Anticipated loss of major functional domain due to fusion event. | |
Hgene | Tgene |
. | ADCY5
O95622 |
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: Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling (PubMed:15385642, PubMed:26206488, PubMed:24700542). Mediates signaling downstream of ADRB1 (PubMed:24700542). Regulates the increase of free cytosolic Ca(2+) in response to increased blood glucose levels and contributes to the regulation of Ca(2+)-dependent insulin secretion (PubMed:24740569). {ECO:0000269|PubMed:15385642, ECO:0000269|PubMed:24700542, ECO:0000269|PubMed:24740569, ECO:0000269|PubMed:26206488}. |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | LRBA | C3553512 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY | 7 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Tgene | | C1847627 | Dyskinesia, Familial, with Facial Myokymia | 4 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Tgene | | C0011570 | Mental Depression | 2 | PSYGENET |
Tgene | | C0011581 | Depressive disorder | 2 | PSYGENET |
Tgene | | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 2 | CTD_human |
Tgene | | C0033141 | Cardiomyopathies, Primary | 2 | CTD_human |
Tgene | | C0036529 | Myocardial Diseases, Secondary | 2 | CTD_human |
Tgene | | C0878544 | Cardiomyopathies | 2 | CTD_human |
Tgene | | C0001787 | Osteoporosis, Age-Related | 1 | CTD_human |
Tgene | | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
Tgene | | C0005612 | Birth Weight | 1 | CTD_human |
Tgene | | C0007097 | Carcinoma | 1 | CTD_human |
Tgene | | C0013421 | Dystonia | 1 | GENOMICS_ENGLAND |
Tgene | | C0016059 | Fibrosis | 1 | CTD_human |
Tgene | | C0020538 | Hypertensive disease | 1 | CTD_human |
Tgene | | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
Tgene | | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
Tgene | | C0029456 | Osteoporosis | 1 | CTD_human |
Tgene | | C0029459 | Osteoporosis, Senile | 1 | CTD_human |
Tgene | | C0041696 | Unipolar Depression | 1 | PSYGENET |
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 | | C0242698 | Ventricular Dysfunction, Left | 1 | CTD_human |
Tgene | | C0393584 | Benign Hereditary Chorea | 1 | ORPHANET |
Tgene | | C0751406 | Post-Traumatic Osteoporosis | 1 | CTD_human |
Tgene | | C1257925 | Mammary Carcinoma, Animal | 1 | CTD_human |
Tgene | | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
Tgene | | C1535926 | Neurodevelopmental Disorders | 1 | CTD_human |
Tgene | | C1623038 | Cirrhosis | 1 | CTD_human |
Tgene | | C1859098 | Chorea, Benign Familial | 1 | ORPHANET |