BUD31
Basic information
Region (hg38): 7:99408641-99419616
Previous symbols: [ "G10" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the BUD31 gene is commonly pathogenic or not.
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.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 6 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 6 | 0 | 0 |
Variants in BUD31
This is a list of pathogenic ClinVar variants found in the BUD31 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 7-99411178-T-C | not specified | Uncertain significance (Jun 24, 2022) | ||
| 7-99416147-A-G | not specified | Uncertain significance (Oct 25, 2023) | ||
| 7-99416216-G-A | not specified | Uncertain significance (Nov 21, 2024) | ||
| 7-99416237-A-G | not specified | Uncertain significance (Jan 10, 2023) | ||
| 7-99417521-C-T | not specified | Uncertain significance (Aug 11, 2024) | ||
| 7-99417522-G-C | not specified | Uncertain significance (Apr 18, 2023) | ||
| 7-99417569-C-T | not specified | Uncertain significance (Sep 11, 2024) | ||
| 7-99417572-G-A | not specified | Uncertain significance (Dec 22, 2023) | ||
| 7-99419434-C-G | not specified | Uncertain significance (Jun 12, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| BUD31 | protein_coding | protein_coding | ENST00000403633 | 4 | 10976 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.231 | 0.738 | 125740 | 0 | 8 | 125748 | 0.0000318 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.34 | 54 | 89.7 | 0.602 | 0.00000571 | 948 |
| Missense in Polyphen | 18 | 27.772 | 0.64815 | 331 | ||
| Synonymous | 0.439 | 28 | 31.1 | 0.900 | 0.00000180 | 250 |
| Loss of Function | 1.81 | 2 | 7.26 | 0.275 | 3.03e-7 | 100 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000579 | 0.0000579 |
| Ashkenazi Jewish | 0.000101 | 0.0000992 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000264 | 0.0000264 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.0000653 | 0.0000653 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Involved in the pre-mRNA splicing process (PubMed:28502770, PubMed:28076346). May play a role as regulator of AR transcriptional activity; may increase AR transcriptional activity (PubMed:25091737). {ECO:0000269|PubMed:28076346, ECO:0000269|PubMed:28502770, ECO:0000305|PubMed:25091737}.;
- Pathway
- Spliceosome - Homo sapiens (human);Metabolism of RNA;mRNA Splicing - Major Pathway;mRNA Splicing;Processing of Capped Intron-Containing Pre-mRNA
(Consensus)
Recessive Scores
- pRec
- 0.124
Intolerance Scores
- loftool
- 0.283
- rvis_EVS
- -0.03
- rvis_percentile_EVS
- 51.04
Haploinsufficiency Scores
- pHI
- 0.224
- hipred
- Y
- hipred_score
- 0.769
- ghis
- 0.685
Essentials
- essential_gene_CRISPR
- E
- essential_gene_CRISPR2
- E
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.896
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Bud31
- Phenotype
Zebrafish Information Network
- Gene name
- bud31
- Affected structure
- head
- Phenotype tag
- abnormal
- Phenotype quality
- flat
Gene ontology
- Biological process
- mRNA splicing, via spliceosome;positive regulation of nucleic acid-templated transcription;positive regulation of androgen receptor activity
- Cellular component
- nuclear chromatin;nucleus;nucleoplasm;spliceosomal complex;U2-type catalytic step 2 spliceosome
- Molecular function
- protein binding;nuclear receptor transcription coactivator activity;nuclear hormone receptor binding