RHCE
Basic information
Region (hg38): 1:25362249-25430192
Previous symbols: [ "RH" ]
Links
Phenotypes
GenCC
Source:
- Rh deficiency syndrome (Supportive), mode of inheritance: AR
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Rhesus blood group | BG | Hematologic | Variants associated with a blood group may be important in specific situations (eg, related to transfusion) | Hematologic | 1824267; 8220426; 9657769 |
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (38 variants)
- not_provided (9 variants)
- RH-NULL,_AMORPH_TYPE (4 variants)
- altered_RhC_expression (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the RHCE gene is commonly pathogenic or not. These statistics are base on transcript: NM_000020485.8. 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 | 4 | |||||
missense | 34 | 46 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 3 | |||||
splice donor/acceptor (+/-2bp) | 1 | |||||
Total | 5 | 0 | 34 | 11 | 4 |
Highest pathogenic variant AF is 0.00000205254
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
RHCE | protein_coding | protein_coding | ENST00000294413 | 10 | 67944 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.00116 | 0.990 | 125733 | 0 | 15 | 125748 | 0.0000596 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.403 | 211 | 228 | 0.925 | 0.0000131 | 2667 |
Missense in Polyphen | 39 | 60.826 | 0.64117 | 835 | ||
Synonymous | 0.149 | 95 | 96.9 | 0.981 | 0.00000631 | 876 |
Loss of Function | 2.31 | 8 | 18.8 | 0.426 | 9.75e-7 | 208 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000116 | 0.000116 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000109 | 0.000109 |
Finnish | 0.0000462 | 0.0000462 |
European (Non-Finnish) | 0.0000619 | 0.0000615 |
Middle Eastern | 0.000109 | 0.000109 |
South Asian | 0.00 | 0.00 |
Other | 0.000163 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane.;
Recessive Scores
- pRec
- 0.119
Intolerance Scores
- loftool
- 0.624
- rvis_EVS
- 1.69
- rvis_percentile_EVS
- 96.38
Haploinsufficiency Scores
- pHI
- 0.189
- hipred
- N
- hipred_score
- 0.380
- ghis
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.00564
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Gene ontology
- Biological process
- ammonium transmembrane transport
- Cellular component
- integral component of plasma membrane
- Molecular function
- ammonium transmembrane transporter activity