RBM28
Basic information
Region (hg38): 7:128297685-128343908
Links
Phenotypes
GenCC
Source:
- ANE syndrome (Limited), mode of inheritance: AR
- ANE syndrome (Supportive), mode of inheritance: AR
- ANE syndrome (Strong), mode of inheritance: AR
Clinical Genomic Database
Source:
| Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
|---|---|---|---|---|---|
| Alopecia, neurologic defects, and endocrinopathy syndrome | AR | Endocrine | Features may include progressive endocrine abnormalities primarily related to progressive anterior pituitary hormone deficiency, including central adrenal insufficiency, as well as other endocrine deficiencies, and surveillance in order to allow appropriate hormonal replacement therapy may be beneficial | Dermatologic; Endocrine; Musculoskeletal; Neurologic | 18439547; 20231366 |
ClinVar
This is a list of variants' phenotypes submitted to
- ANE syndrome (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the RBM28 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 | 14 | 18 | ||||
| missense | 33 | 45 | ||||
| nonsense | 1 | |||||
| start loss | 0 | |||||
| frameshift | 1 | |||||
| inframe indel | 1 | |||||
| splice donor/acceptor (+/-2bp) | 1 | |||||
| splice region | 1 | 3 | 4 | |||
| non coding | 2 | |||||
| Total | 1 | 1 | 35 | 23 | 9 |
Variants in RBM28
This is a list of pathogenic ClinVar variants found in the RBM28 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| RBM28 | protein_coding | protein_coding | ENST00000223073 | 19 | 46225 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 6.23e-12 | 0.990 | 125644 | 0 | 104 | 125748 | 0.000414 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.179 | 388 | 398 | 0.975 | 0.0000223 | 5010 |
| Missense in Polyphen | 175 | 178.82 | 0.97865 | 2181 | ||
| Synonymous | 0.768 | 139 | 151 | 0.921 | 0.00000872 | 1386 |
| Loss of Function | 2.52 | 25 | 42.8 | 0.584 | 0.00000236 | 532 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000684 | 0.000684 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000163 | 0.000163 |
| Finnish | 0.000277 | 0.000277 |
| European (Non-Finnish) | 0.000449 | 0.000448 |
| Middle Eastern | 0.000163 | 0.000163 |
| South Asian | 0.000784 | 0.000784 |
| Other | 0.000326 | 0.000326 |
dbNSFP
Source:
- Function
- FUNCTION: Nucleolar component of the spliceosomal ribonucleoprotein complexes. {ECO:0000269|PubMed:17081119}.;
- Pathway
- Ribosome biogenesis in eukaryotes - Homo sapiens (human)
(Consensus)
Recessive Scores
- pRec
- 0.0962
Intolerance Scores
- loftool
- 0.965
- rvis_EVS
- 1
- rvis_percentile_EVS
- 90.77
Haploinsufficiency Scores
- pHI
- 0.702
- hipred
- Y
- hipred_score
- 0.692
- ghis
- 0.433
Essentials
- essential_gene_CRISPR
- E
- essential_gene_CRISPR2
- E
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.936
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Rbm28
- Phenotype
Gene ontology
- Biological process
- mRNA processing;RNA splicing
- Cellular component
- nucleus;spliceosomal complex;nucleolus;ribonucleoprotein complex
- Molecular function
- RNA binding