PRPF40B
Basic information
Region (hg38): 12:49568218-49644666
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 PRPF40B 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 | 1 | |||||
missense | 87 | 87 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 87 | 1 | 0 |
Variants in PRPF40B
This is a list of pathogenic ClinVar variants found in the PRPF40B region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
12-49587627-C-T | not specified | Uncertain significance (Apr 24, 2023) | ||
12-49587661-G-A | not specified | Likely benign (Jul 16, 2021) | ||
12-49587685-T-C | not specified | Uncertain significance (Nov 21, 2024) | ||
12-49587690-A-G | not specified | Uncertain significance (Dec 02, 2024) | ||
12-49587695-G-A | Benign (Oct 25, 2024) | |||
12-49587731-C-G | Benign (Dec 09, 2024) | |||
12-49587939-T-C | Benign (May 12, 2021) | |||
12-49588449-C-T | Uncertain significance (Nov 23, 2021) | |||
12-49588455-G-A | Benign (Jan 23, 2025) | |||
12-49588459-C-T | Likely benign (Jan 13, 2025) | |||
12-49588460-A-G | Likely benign (Jul 19, 2022) | |||
12-49588481-C-T | Benign (Jul 31, 2024) | |||
12-49588535-C-T | Likely benign (Dec 07, 2023) | |||
12-49588536-G-A | Benign (Apr 29, 2024) | |||
12-49588559-C-G | not specified | Likely benign (Nov 09, 2024) | ||
12-49588577-G-A | not specified | Uncertain significance (Sep 26, 2024) | ||
12-49588614-C-A | Uncertain significance (Nov 11, 2024) | |||
12-49598742-G-A | Likely benign (Apr 08, 2022) | |||
12-49598749-G-A | Uncertain significance (May 23, 2023) | |||
12-49598760-G-C | not specified | Uncertain significance (Nov 09, 2023) | ||
12-49598793-G-A | Uncertain significance (May 13, 2022) | |||
12-49598799-TCTC-T | Uncertain significance (Oct 13, 2022) | |||
12-49598825-G-A | not specified | Uncertain significance (Feb 06, 2023) | ||
12-49598900-G-A | not specified | Uncertain significance (Feb 27, 2023) | ||
12-49598909-G-A | Benign (Jan 15, 2025) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
PRPF40B | protein_coding | protein_coding | ENST00000548825 | 26 | 76449 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
1.00 | 0.000369 | 125724 | 0 | 24 | 125748 | 0.0000954 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.07 | 466 | 536 | 0.870 | 0.0000340 | 5799 |
Missense in Polyphen | 166 | 199.69 | 0.83128 | 2087 | ||
Synonymous | -0.599 | 204 | 193 | 1.05 | 0.0000107 | 1717 |
Loss of Function | 5.89 | 7 | 53.5 | 0.131 | 0.00000266 | 613 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000343 | 0.000329 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000109 | 0.000109 |
Finnish | 0.0000929 | 0.0000924 |
European (Non-Finnish) | 0.0000994 | 0.0000879 |
Middle Eastern | 0.000109 | 0.000109 |
South Asian | 0.0000653 | 0.0000653 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: May be involved in pre-mRNA splicing. {ECO:0000269|PubMed:9700202}.;
- Pathway
- Spliceosome - Homo sapiens (human)
(Consensus)
Recessive Scores
- pRec
- 0.0828
Intolerance Scores
- loftool
- rvis_EVS
- -1.46
- rvis_percentile_EVS
- 3.81
Haploinsufficiency Scores
- pHI
- 0.469
- hipred
- N
- hipred_score
- 0.372
- ghis
- 0.579
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.846
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Prpf40b
- Phenotype
Gene ontology
- Biological process
- mRNA splicing, via spliceosome;mRNA cis splicing, via spliceosome
- Cellular component
- U1 snRNP;nuclear speck;U2-type prespliceosome
- Molecular function
- RNA binding