FOLH1
Basic information
Region (hg38): 11:49145092-49208638
Previous symbols: [ "FOLH" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (59 variants)
- not_provided (6 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the FOLH1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000004476.3. 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 | 4 | |||||
missense | 53 | 60 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
Total | 0 | 0 | 53 | 8 | 3 |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
FOLH1 | protein_coding | protein_coding | ENST00000256999 | 19 | 62036 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
6.20e-9 | 0.998 | 125682 | 0 | 63 | 125745 | 0.000251 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.51 | 295 | 378 | 0.781 | 0.0000182 | 4878 |
Missense in Polyphen | 98 | 155.02 | 0.63218 | 1960 | ||
Synonymous | 0.184 | 128 | 131 | 0.979 | 0.00000644 | 1398 |
Loss of Function | 2.84 | 20 | 39.2 | 0.510 | 0.00000197 | 509 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000858 | 0.000842 |
Ashkenazi Jewish | 0.000101 | 0.0000992 |
East Asian | 0.000329 | 0.000326 |
Finnish | 0.0000924 | 0.0000924 |
European (Non-Finnish) | 0.000199 | 0.000193 |
Middle Eastern | 0.000329 | 0.000326 |
South Asian | 0.000167 | 0.000163 |
Other | 0.000784 | 0.000652 |
dbNSFP
Source:
- Function
- FUNCTION: Has both folate hydrolase and N-acetylated-alpha-linked- acidic dipeptidase (NAALADase) activity. Has a preference for tri- alpha-glutamate peptides. In the intestine, required for the uptake of folate. In the brain, modulates excitatory neurotransmission through the hydrolysis of the neuropeptide, N- aceylaspartylglutamate (NAAG), thereby releasing glutamate. Involved in prostate tumor progression.;
- Pathway
- Alanine, aspartate and glutamate metabolism - Homo sapiens (human);Vitamin digestion and absorption - Homo sapiens (human);One Carbon Metabolism;Metabolism of amino acids and derivatives;Metabolism;Amino acid synthesis and interconversion (transamination)
(Consensus)
Recessive Scores
- pRec
- 0.432
Intolerance Scores
- loftool
- 0.898
- rvis_EVS
- 1.33
- rvis_percentile_EVS
- 94.21
Haploinsufficiency Scores
- pHI
- 0.158
- hipred
- Y
- hipred_score
- 0.571
- ghis
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.604
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Folh1
- Phenotype
- homeostasis/metabolism phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan);
Gene ontology
- Biological process
- proteolysis;folic acid-containing compound metabolic process;cellular amino acid biosynthetic process;C-terminal protein deglutamylation
- Cellular component
- cytoplasm;plasma membrane;integral component of plasma membrane;cell surface;membrane;extracellular exosome
- Molecular function
- metallocarboxypeptidase activity;peptidase activity;dipeptidase activity;metal ion binding;Ac-Asp-Glu binding;tetrahydrofolyl-poly(glutamate) polymer binding