Fusion gene information | Fusion gene name: GNAS-CUL4A |
Fusion gene ID: hg2778tg8451 | | Hgene | Tgene | Gene symbol | GNAS | CUL4A | Gene ID | 2778 | 8451 | Gene name | GNAS complex locus | cullin 4A |
Synonyms | AHO|C20orf45|GNAS1|GPSA|GSA|GSP|NESP|PITA3|POH|SCG6|SgVI | - |
Cytomap | ('GNAS')('CUL4A') 20q13.32 | 13q34 |
Type of gene | protein-coding | protein-coding |
Description | protein ALEXprotein GNASprotein SCG6 (secretogranin VI)G protein subunit alpha Sadenylate cyclase-stimulating G alpha proteinalternative gene product encoded by XL-exonextra large alphas proteinguanine nucleotide binding protein (G protein), alpha | cullin-4ACUL-4A |
Modification date | 20200329 | 20200327 |
UniProtAcc | . | Q13619 |
Ensembl transtripts involved in fusion gene | ENST00000265620, ENST00000306090, ENST00000313949, ENST00000354359, ENST00000371075, ENST00000371085, ENST00000371095, ENST00000371100, ENST00000371102, ENST00000464624, ENST00000306120, ENST00000371081, ENST00000371098, ENST00000371099,
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Fusion gene scores | * DoF score | 44 X 25 X 16=17600 | 15 X 13 X 9=1755 |
# samples | 51 | 20 |
** MAII score | log2(51/17600*10)=-5.10893437155316 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(20/1755*10)=-3.1333991254172 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 |
Context | PubMed: GNAS [Title/Abstract] AND CUL4A [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | GNAS(57486101)-CUL4A(113918826), # samples:1
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Anticipated loss of major functional domain due to fusion event. | |
Hgene | Tgene |
. | CUL4A
Q13619 |
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: Core component of multiple cullin-RING-based E3 ubiquitin-protein ligase complexes which mediate the ubiquitination of target proteins. As a scaffold protein may contribute to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme. The E3 ubiquitin-protein ligase activity of the complex is dependent on the neddylation of the cullin subunit and is inhibited by the association of the deneddylated cullin subunit with TIP120A/CAND1. The functional specificity of the E3 ubiquitin-protein ligase complex depends on the variable substrate recognition component. DCX(DET1-COP1) directs ubiquitination of JUN. DCX(DDB2) directs ubiquitination of XPC. DCX(DDB2) ubiquitinates histones H3-H4 and is required for efficient histone deposition during replication-coupled (H3.1) and replication-independent (H3.3) nucleosome assembly, probably by facilitating the transfer of H3 from ASF1A/ASF1B to other chaperones involved in histone deposition. DCX(DTL) plays a role in PCNA-dependent polyubiquitination of CDT1 and MDM2-dependent ubiquitination of TP53 in response to radiation-induced DNA damage and during DNA replication. In association with DDB1 and SKP2 probably is involved in ubiquitination of CDKN1B/p27kip. Is involved in ubiquitination of HOXA9. DCX(DTL) directs autoubiquitination of DTL. The DDB1-CUL4A-DTL E3 ligase complex regulates the circadian clock function by mediating the ubiquitination and degradation of CRY1 (PubMed:26431207). With CUL4B, contributes to ribosome biogenesis (PubMed:26711351). {ECO:0000269|PubMed:14578910, ECO:0000269|PubMed:14609952, ECO:0000269|PubMed:15448697, ECO:0000269|PubMed:15548678, ECO:0000269|PubMed:16537899, ECO:0000269|PubMed:16678110, ECO:0000269|PubMed:23478445, ECO:0000269|PubMed:24209620, ECO:0000269|PubMed:26431207, ECO:0000269|PubMed:26711351}. |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | GNAS | C3494506 | Pseudohypoparathyroidism, Type Ia | 17 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | GNAS | C0242292 | McCune-Albright Syndrome | 7 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | GNAS | C0016065 | Polyostotic fibrous dysplasia | 5 | CTD_human;ORPHANET |
Hgene | GNAS | C1864100 | PSEUDOHYPOPARATHYROIDISM, TYPE IB | 5 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Hgene | GNAS | C2931404 | Albright's hereditary osteodystrophy | 4 | CTD_human;GENOMICS_ENGLAND |
Hgene | GNAS | C0033806 | Pseudohypoparathyroidism | 3 | CTD_human |
Hgene | GNAS | C0334041 | Osteoma cutis | 3 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | GNAS | C0014130 | Endocrine System Diseases | 2 | CTD_human |
Hgene | GNAS | C0016064 | Fibrous Dysplasia, Monostotic | 2 | ORPHANET |
Hgene | GNAS | C0034013 | Precocious Puberty | 2 | CTD_human |
Hgene | GNAS | C0221263 | Cafe-au-Lait Spots | 2 | CTD_human |
Hgene | GNAS | C0271527 | Cryptogenic sexual precocity | 2 | CTD_human |
Hgene | GNAS | C0342543 | Central Precocious Puberty | 2 | CTD_human |
Hgene | GNAS | C1504412 | Testotoxicosis | 2 | CTD_human |
Hgene | GNAS | C1857451 | Acth-Independent Macronodular Adrenal Hyperplasia | 2 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | GNAS | C2932716 | Pseudohypoparathyroidism Type 1C | 2 | GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | GNAS | C0001206 | Acromegaly | 1 | CTD_human |
Hgene | GNAS | C0001624 | Adrenal Gland Neoplasms | 1 | CTD_human |
Hgene | GNAS | C0003129 | Anoxemia | 1 | CTD_human |
Hgene | GNAS | C0003130 | Anoxia | 1 | CTD_human |
Hgene | GNAS | C0008370 | Cholestasis | 1 | GENOMICS_ENGLAND |
Hgene | GNAS | C0009438 | Common Bile Duct Calculi | 1 | CTD_human |
Hgene | GNAS | C0011573 | Endogenous depression | 1 | PSYGENET |
Hgene | GNAS | C0019087 | Hemorrhagic Disorders | 1 | CTD_human |
Hgene | GNAS | C0020538 | Hypertensive disease | 1 | CTD_human |
Hgene | GNAS | C0020796 | Profound Mental Retardation | 1 | CTD_human |
Hgene | GNAS | C0021655 | Insulin Resistance | 1 | CTD_human |
Hgene | GNAS | C0023897 | Liver Diseases, Parasitic | 1 | CTD_human |
Hgene | GNAS | C0025363 | Mental Retardation, Psychosocial | 1 | CTD_human |
Hgene | GNAS | C0027819 | Neuroblastoma | 1 | CTD_human |
Hgene | GNAS | C0028754 | Obesity | 1 | CTD_human |
Hgene | GNAS | C0029396 | Heterotopic Ossification | 1 | CTD_human |
Hgene | GNAS | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human |
Hgene | GNAS | C0033835 | Pseudopseudohypoparathyroidism | 1 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Hgene | GNAS | C0035204 | Respiration Disorders | 1 | CTD_human |
Hgene | GNAS | C0036341 | Schizophrenia | 1 | PSYGENET |
Hgene | GNAS | C0038587 | Substance Withdrawal Syndrome | 1 | CTD_human |
Hgene | GNAS | C0039231 | Tachycardia | 1 | CTD_human |
Hgene | GNAS | C0080203 | Tachyarrhythmia | 1 | CTD_human |
Hgene | GNAS | C0086189 | Drug Withdrawal Symptoms | 1 | CTD_human |
Hgene | GNAS | C0087169 | Withdrawal Symptoms | 1 | CTD_human |
Hgene | GNAS | C0206698 | Cholangiocarcinoma | 1 | CTD_human |
Hgene | GNAS | C0221357 | Brachydactyly | 1 | CTD_human |
Hgene | GNAS | C0242184 | Hypoxia | 1 | CTD_human |
Hgene | GNAS | C0242216 | Biliary calculi | 1 | CTD_human |
Hgene | GNAS | C0345905 | Intrahepatic Cholangiocarcinoma | 1 | CTD_human |
Hgene | GNAS | C0346302 | Growth Hormone-Secreting Pituitary Adenoma | 1 | CTD_human |
Hgene | GNAS | C0700292 | Hypoxemia | 1 | CTD_human |
Hgene | GNAS | C0750887 | Adrenal Cancer | 1 | CTD_human |
Hgene | GNAS | C0917816 | Mental deficiency | 1 | CTD_human |
Hgene | GNAS | C0920563 | Insulin Sensitivity | 1 | CTD_human |
Hgene | GNAS | C1136382 | Sclerocystic Ovaries | 1 | CTD_human |
Hgene | GNAS | C2932715 | Pseudohypoparathyroidism Type 1B | 1 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Hgene | GNAS | C3489630 | Somatotrophinoma, Familial | 1 | CTD_human |
Hgene | GNAS | C3697137 | Fibrous dysplasia of bone with intramuscular myxoma | 1 | ORPHANET |
Hgene | GNAS | C3714756 | Intellectual Disability | 1 | CTD_human |
Hgene | GNAS | C3805278 | Extrahepatic Cholangiocarcinoma | 1 | CTD_human |
Tgene | | C0004238 | Atrial Fibrillation | 2 | CTD_human |
Tgene | | C0235480 | Paroxysmal atrial fibrillation | 2 | CTD_human |
Tgene | | C2585653 | Persistent atrial fibrillation | 2 | CTD_human |
Tgene | | C3468561 | familial atrial fibrillation | 2 | CTD_human |
Tgene | | C0014518 | Toxic Epidermal Necrolysis | 1 | CTD_human |
Tgene | | C0038325 | Stevens-Johnson Syndrome | 1 | CTD_human |
Tgene | | C1274933 | Drug-Induced Stevens Johnson Syndrome | 1 | CTD_human |
Tgene | | C3658301 | Mycoplasma-Induced Stevens-Johnson Syndrome | 1 | CTD_human |
Tgene | | C3658302 | Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum | 1 | CTD_human |