RILPL2
Basic information
Region (hg38): 12:123409714-123436684
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (27 variants)
- not_provided (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the RILPL2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000145058.3. 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 | 1 | |||||
missense | 26 | 27 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
Total | 0 | 0 | 26 | 2 | 0 |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
RILPL2 | protein_coding | protein_coding | ENST00000280571 | 4 | 21329 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.00389 | 0.865 | 125732 | 0 | 15 | 125747 | 0.0000596 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.518 | 98 | 114 | 0.863 | 0.00000551 | 1340 |
Missense in Polyphen | 32 | 38.093 | 0.84005 | 469 | ||
Synonymous | -0.308 | 52 | 49.2 | 1.06 | 0.00000242 | 417 |
Loss of Function | 1.27 | 5 | 9.15 | 0.547 | 4.73e-7 | 102 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0000660 | 0.0000660 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000337 | 0.000326 |
Finnish | 0.0000462 | 0.0000462 |
European (Non-Finnish) | 0.0000551 | 0.0000527 |
Middle Eastern | 0.000337 | 0.000326 |
South Asian | 0.00 | 0.00 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Involved in cell shape and neuronal morphogenesis, positively regulating the establishment and maintenance of dendritic spines. Plays a role in cellular protein transport, including protein transport away from primary cilia. May function via activation of RAC1 and PAK1 (By similarity). {ECO:0000250}.;
Recessive Scores
- pRec
- 0.0747
Intolerance Scores
- loftool
- 0.136
- rvis_EVS
- -0.19
- rvis_percentile_EVS
- 39.68
Haploinsufficiency Scores
- pHI
- 0.0768
- hipred
- N
- hipred_score
- 0.244
- ghis
- 0.599
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.699
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Rilpl2
- Phenotype
Gene ontology
- Biological process
- epithelial cell morphogenesis;cilium assembly;protein transport from ciliary membrane to plasma membrane
- Cellular component
- cytoplasm;centrosome;cytosol;cilium;membrane;ciliary basal body
- Molecular function
- small GTPase binding;identical protein binding;protein dimerization activity;dynein light intermediate chain binding