RHCG
Basic information
Region (hg38): 15:89471398-89496589
Previous symbols: [ "C15orf6" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (64 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the RHCG gene is commonly pathogenic or not. These statistics are base on transcript: NM_000016321.3. 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 | 0 | |||||
| missense | 58 | 64 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 58 | 6 | 0 |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| RHCG | protein_coding | protein_coding | ENST00000268122 | 10 | 41165 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.000100 | 0.997 | 125699 | 0 | 49 | 125748 | 0.000195 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.289 | 273 | 287 | 0.952 | 0.0000158 | 3128 |
| Missense in Polyphen | 108 | 121.51 | 0.88884 | 1320 | ||
| Synonymous | -0.354 | 126 | 121 | 1.04 | 0.00000785 | 955 |
| Loss of Function | 2.65 | 11 | 25.4 | 0.432 | 0.00000136 | 255 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000627 | 0.000627 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000164 | 0.000163 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.000222 | 0.000220 |
| Middle Eastern | 0.000164 | 0.000163 |
| South Asian | 0.000163 | 0.000163 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Functions as an electroneutral and bidirectional ammonium transporter. May regulate transepithelial ammonia secretion. {ECO:0000269|PubMed:11062476, ECO:0000269|PubMed:14761968, ECO:0000269|PubMed:15929723, ECO:0000269|PubMed:16477434}.;
- Pathway
- Amine compound SLC transporters;Rhesus glycoproteins mediate ammonium transport.;Transport of bile salts and organic acids, metal ions and amine compounds;SLC-mediated transmembrane transport;Transport of small molecules
(Consensus)
Recessive Scores
- pRec
- 0.138
Intolerance Scores
- loftool
- 0.722
- rvis_EVS
- -0.44
- rvis_percentile_EVS
- 24.46
Haploinsufficiency Scores
- pHI
- 0.0877
- hipred
- N
- hipred_score
- 0.300
- ghis
- 0.444
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.197
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Rhcg
- Phenotype
- growth/size/body region phenotype; homeostasis/metabolism phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); reproductive system phenotype; renal/urinary system phenotype;
Zebrafish Information Network
- Gene name
- rhcgl1
- Affected structure
- ammonium transport
- Phenotype tag
- abnormal
- Phenotype quality
- decreased process quality
Gene ontology
- Biological process
- cellular ion homeostasis;regulation of pH;ammonium transport;amine transport;epithelial cell differentiation;homeostatic process;transepithelial ammonium transport;ammonium transmembrane transport
- Cellular component
- plasma membrane;integral component of plasma membrane;basolateral plasma membrane;apical plasma membrane;cytoplasmic vesicle;extracellular exosome
- Molecular function
- ammonium transmembrane transporter activity;ankyrin binding;identical protein binding