FOLR2
Basic information
Region (hg38): 11:72216601-72221950
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (31 variants)
- not_provided (2 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the FOLR2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000000803.5. 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 | 28 | 32 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
Total | 0 | 0 | 28 | 3 | 2 |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
FOLR2 | protein_coding | protein_coding | ENST00000298223 | 4 | 5350 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.00000548 | 0.449 | 125633 | 1 | 26 | 125660 | 0.000107 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.123 | 145 | 149 | 0.972 | 0.00000817 | 1700 |
Missense in Polyphen | 46 | 43.161 | 1.0658 | 536 | ||
Synonymous | 0.194 | 52 | 53.8 | 0.966 | 0.00000287 | 452 |
Loss of Function | 0.556 | 9 | 11.0 | 0.819 | 4.69e-7 | 121 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000152 | 0.000152 |
Ashkenazi Jewish | 0.000596 | 0.000496 |
East Asian | 0.0000545 | 0.0000544 |
Finnish | 0.0000925 | 0.0000924 |
European (Non-Finnish) | 0.0000711 | 0.0000704 |
Middle Eastern | 0.0000545 | 0.0000544 |
South Asian | 0.000196 | 0.000196 |
Other | 0.000327 | 0.000326 |
dbNSFP
Source:
- Function
- FUNCTION: Binds to folate and reduced folic acid derivatives and mediates delivery of 5-methyltetrahydrofolate and folate analogs into the interior of cells. Has high affinity for folate and folic acid analogs at neutral pH. Exposure to slightly acidic pH after receptor endocytosis triggers a conformation change that strongly reduces its affinity for folates and mediates their release. {ECO:0000269|PubMed:23934049, ECO:0000269|PubMed:2605182, ECO:0000269|PubMed:4066659}.;
- Pathway
- Endocytosis - Homo sapiens (human);Folate Metabolism;Post-translational modification: synthesis of GPI-anchored proteins;Post-translational protein modification;Metabolism of proteins;Metabolism;Metabolism of folate and pterines;Metabolism of water-soluble vitamins and cofactors;Metabolism of vitamins and cofactors
(Consensus)
Recessive Scores
- pRec
- 0.147
Intolerance Scores
- loftool
- 0.568
- rvis_EVS
- 0.06
- rvis_percentile_EVS
- 58.53
Haploinsufficiency Scores
- pHI
- 0.0579
- hipred
- N
- hipred_score
- 0.146
- ghis
- 0.519
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.209
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Folr2
- Phenotype
- normal phenotype;
Gene ontology
- Biological process
- monocyte chemotaxis;receptor-mediated endocytosis;inflammatory response;cell adhesion;fusion of sperm to egg plasma membrane involved in single fertilization;positive regulation of cell population proliferation;folic acid transport;sperm-egg recognition;folic acid metabolic process;regulation of thymidylate synthase biosynthetic process;cellular response to folic acid;folate import across plasma membrane
- Cellular component
- extracellular region;plasma membrane;cell surface;anchored component of external side of plasma membrane
- Molecular function
- folic acid binding;drug binding;signaling receptor activity;methotrexate binding;folic acid receptor activity