SNRPB
small nuclear ribonucleoprotein polypeptides B and B1, the group of Sm spliceosomal proteins|Small nucleolar RNA protein coding host genes
Basic information
Region (hg38): 20:2461634-2470853
Previous symbols: [ "SNRPB1" ]
Links
Phenotypes
GenCC
Source:
- cerebrocostomandibular syndrome (Strong), mode of inheritance: AD
- cerebrocostomandibular syndrome (Supportive), mode of inheritance: AD
- cerebrocostomandibular syndrome (Moderate), mode of inheritance: Semidominant
- cerebrocostomandibular syndrome (Strong), mode of inheritance: AD
- cerebrocostomandibular syndrome (Definitive), mode of inheritance: AD
Clinical Genomic Database
Source:
| Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
|---|---|---|---|---|---|
| Cerebrocostomandibular syndrome | AD | General | Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing | Craniofacial; Musculoskeletal; Neurologic | 25047197; 25504470; 26971886 |
ClinVar
This is a list of variants' phenotypes submitted to
- not_provided (103 variants)
- Inborn_genetic_diseases (13 variants)
- Cerebro-costo-mandibular_syndrome (6 variants)
- SNRPB-related_disorder (6 variants)
- Isolated_Pierre-Robin_syndrome (1 variants)
- Intellectual_disability (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the SNRPB gene is commonly pathogenic or not. These statistics are base on transcript: NM_000003091.4. 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 | 1 | 31 | 2 | 34 | ||
| missense | 1 | 45 | 1 | 47 | ||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 1 | 1 | 2 | |||
| splice donor/acceptor (+/-2bp) | 1 | 2 | 3 | |||
| Total | 0 | 3 | 49 | 31 | 3 |
Highest pathogenic variant AF is 0.000005811003
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| SNRPB | protein_coding | protein_coding | ENST00000438552 | 7 | 9220 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.709 | 0.291 | 123389 | 0 | 2 | 123391 | 0.00000810 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.87 | 85 | 149 | 0.569 | 0.00000813 | 1522 |
| Missense in Polyphen | 8 | 33.465 | 0.23906 | 420 | ||
| Synonymous | -0.184 | 53 | 51.3 | 1.03 | 0.00000294 | 531 |
| Loss of Function | 2.79 | 2 | 12.8 | 0.157 | 8.54e-7 | 123 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000182 | 0.0000181 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Core component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. As part of the U7 snRNP it is involved in histone 3'-end processing. {ECO:0000269|PubMed:18984161}.;
- Disease
- DISEASE: Cerebrocostomandibular syndrome (CCMS) [MIM:117650]: A syndrome characterized by severe micrognathia, rib defects ranging from a few dorsal rib segments to complete absence of ossification, and mental retardation. {ECO:0000269|PubMed:25047197, ECO:0000269|PubMed:25504470}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
- Pathway
- Systemic lupus erythematosus - Homo sapiens (human);Spliceosome - Homo sapiens (human);mRNA Processing;Gene expression (Transcription);snRNP Assembly;RNA Polymerase II Transcription;SLBP Dependent Processing of Replication-Dependent Histone Pre-mRNAs;Metabolism of RNA;Processing of Capped Intronless Pre-mRNA;Cleavage of Growing Transcript in the Termination Region ;RNA Polymerase II Transcription Termination;mRNA Splicing - Major Pathway;Metabolism of non-coding RNA;SLBP independent Processing of Histone Pre-mRNAs;mRNA Splicing - Minor Pathway;mRNA Splicing;Processing of Capped Intron-Containing Pre-mRNA
(Consensus)
Recessive Scores
- pRec
- 0.175
Intolerance Scores
- loftool
- 0.443
- rvis_EVS
- -0.27
- rvis_percentile_EVS
- 33.97
Haploinsufficiency Scores
- pHI
- 0.658
- hipred
- Y
- hipred_score
- 0.701
- ghis
- 0.689
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- E
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.973
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Snrpb
- Phenotype
Gene ontology
- Biological process
- spliceosomal snRNP assembly;mRNA splicing, via spliceosome;termination of RNA polymerase II transcription;protein methylation;histone mRNA metabolic process;RNA splicing;import into nucleus
- Cellular component
- nucleus;nucleoplasm;spliceosomal complex;U5 snRNP;U7 snRNP;U1 snRNP;U2 snRNP;U4 snRNP;U12-type spliceosomal complex;telomerase holoenzyme complex;cytoplasm;cytosol;small nuclear ribonucleoprotein complex;methylosome;SMN-Sm protein complex;U4/U6 x U5 tri-snRNP complex;U2-type prespliceosome;U2-type precatalytic spliceosome;U2-type catalytic step 2 spliceosome;catalytic step 2 spliceosome;histone pre-mRNA 3'end processing complex
- Molecular function
- RNA binding;protein binding;telomerase RNA binding;histone pre-mRNA DCP binding