RHPN2
Basic information
Region (hg38): 19:32978592-33064888
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (82 variants)
- not_provided (8 variants)
- Infantile_epilepsy_syndrome (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the RHPN2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000033103.5. 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 | |||||
missense | 77 | 86 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
Total | 0 | 0 | 77 | 7 | 3 |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
RHPN2 | protein_coding | protein_coding | ENST00000254260 | 15 | 86296 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
1.07e-7 | 0.997 | 125712 | 0 | 36 | 125748 | 0.000143 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.315 | 369 | 386 | 0.955 | 0.0000255 | 4458 |
Missense in Polyphen | 97 | 119.31 | 0.81302 | 1487 | ||
Synonymous | 1.27 | 145 | 166 | 0.875 | 0.0000120 | 1335 |
Loss of Function | 2.65 | 17 | 33.6 | 0.506 | 0.00000170 | 395 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000380 | 0.000380 |
Ashkenazi Jewish | 0.0000993 | 0.0000992 |
East Asian | 0.000381 | 0.000272 |
Finnish | 0.0000462 | 0.0000462 |
European (Non-Finnish) | 0.000106 | 0.000105 |
Middle Eastern | 0.000381 | 0.000272 |
South Asian | 0.0000980 | 0.0000980 |
Other | 0.000327 | 0.000326 |
dbNSFP
Source:
- Function
- FUNCTION: Binds specifically to GTP-Rho. May function in a Rho pathway to limit stress fiber formation and/or increase the turnover of F-actin structures in the absence of high levels of RhoA activity. {ECO:0000269|PubMed:12221077}.;
- Pathway
- G13 Signaling Pathway;Signal Transduction;RHO GTPases Activate Rhotekin and Rhophilins;RHO GTPase Effectors;Signaling by Rho GTPases
(Consensus)
Recessive Scores
- pRec
- 0.102
Intolerance Scores
- loftool
- 0.744
- rvis_EVS
- 0
- rvis_percentile_EVS
- 54.07
Haploinsufficiency Scores
- pHI
- 0.191
- hipred
- Y
- hipred_score
- 0.590
- ghis
- 0.426
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.539
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | High | High | High |
Primary Immunodeficiency | High | High | High |
Cancer | High | High | High |
Mouse Genome Informatics
- Gene name
- Rhpn2
- Phenotype
- normal phenotype;
Gene ontology
- Biological process
- signal transduction
- Cellular component
- cytosol;perinuclear region of cytoplasm
- Molecular function