BUD23
Basic information
Region (hg38): 7:73683597-73698212
Previous symbols: [ "WBSCR22" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (49 variants)
- not_provided (3 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the BUD23 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000017528.5. Only rare variants are included in the table.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
---|---|---|---|---|---|---|
synonymous | 2 | |||||
missense | 44 | 46 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
Total | 0 | 0 | 44 | 3 | 1 |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
BUD23 | protein_coding | protein_coding | ENST00000423497 | 13 | 22137 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.0000766 | 0.996 | 125703 | 0 | 45 | 125748 | 0.000179 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.271 | 170 | 180 | 0.943 | 0.0000100 | 1919 |
Missense in Polyphen | 72 | 78.301 | 0.91953 | 783 | ||
Synonymous | -0.0200 | 64 | 63.8 | 1.00 | 0.00000308 | 578 |
Loss of Function | 2.56 | 11 | 24.7 | 0.445 | 0.00000149 | 246 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000271 | 0.000271 |
Ashkenazi Jewish | 0.0000994 | 0.0000992 |
East Asian | 0.000218 | 0.000217 |
Finnish | 0.0000924 | 0.0000924 |
European (Non-Finnish) | 0.000133 | 0.000132 |
Middle Eastern | 0.000218 | 0.000217 |
South Asian | 0.000523 | 0.000523 |
Other | 0.000163 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the N(7) position of a guanine in 18S rRNA (PubMed:25851604). Requires the methyltransferase adapter protein TRM112 for full rRNA methyltransferase activity (PubMed:25851604). Involved in the pre-rRNA processing steps leading to small-subunit rRNA production independently of its RNA-modifying catalytic activity (PubMed:25851604). Important for biogenesis end export of the 40S ribosomal subunit independent on its methyltransferase activity (PubMed:24086612). Locus-specific steroid receptor coactivator. Potentiates transactivation by glucocorticoid (NR3C1), mineralocorticoid (NR3C2), androgen (AR) and progesterone (PGR) receptors (PubMed:24488492). Required for the maintenance of open chromatin at the TSC22D3/GILZ locus to facilitate NR3C1 loading on the response elements (PubMed:24488492). Required for maintenance of dimethylation on histone H3 'Lys-79' (H3K79me2), although direct histone methyltransferase activity is not observed in vitro (PubMed:24488492). {ECO:0000250, ECO:0000269|PubMed:24086612, ECO:0000269|PubMed:24488492, ECO:0000269|PubMed:25851604}.;
- Disease
- DISEASE: Note=BUD23 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of BUD23 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease. {ECO:0000305|PubMed:11978965}.;
- Pathway
- rRNA processing;Metabolism of RNA;rRNA modification in the nucleus and cytosol;rRNA processing in the nucleus and cytosol
(Consensus)
Recessive Scores
- pRec
- 0.118
Intolerance Scores
- loftool
- rvis_EVS
- -0.56
- rvis_percentile_EVS
- 19.31
Haploinsufficiency Scores
- pHI
- 0.0575
- hipred
- N
- hipred_score
- 0.432
- ghis
- 0.511
Essentials
- essential_gene_CRISPR
- essential_gene_CRISPR2
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- gene_indispensability_score
Mouse Genome Informatics
- Gene name
- Bud23
- Phenotype
Gene ontology
- Biological process
- chromatin organization;rRNA (guanine-N7)-methylation;positive regulation of rRNA processing
- Cellular component
- nucleus;nucleoplasm;nucleolus;perinuclear region of cytoplasm
- Molecular function
- RNA binding;methyltransferase activity;rRNA (guanine) methyltransferase activity;protein heterodimerization activity