FDFT1
Basic information
Region (hg38): 8:11795573-11839395
Links
Phenotypes
GenCC
Source:
- squalene synthase deficiency (Limited), mode of inheritance: AR
- squalene synthase deficiency (Limited), mode of inheritance: AR
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Squalene synthase deficiency | AR | General | Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing | Biochemical; Cardiovascular; Craniofacial; Gastrointestinal; Musculoskeletal; Neurologic | 29909962 |
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the FDFT1 gene is commonly pathogenic or not.
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.
Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
---|---|---|---|---|---|---|
synonymous | 10 | 16 | ||||
missense | 35 | 41 | ||||
nonsense | 1 | |||||
start loss | 0 | |||||
frameshift | 1 | |||||
inframe indel | 1 | |||||
splice donor/acceptor (+/-2bp) | 2 | |||||
splice region | 1 | 1 | ||||
non coding | 22 | |||||
Total | 0 | 2 | 43 | 23 | 16 |
Variants in FDFT1
This is a list of pathogenic ClinVar variants found in the FDFT1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
8-11802585-TCTTCCTAGTGTGAGCG-T | Squalene synthase deficiency | Likely pathogenic (May 29, 2018) | ||
8-11802831-G-A | FDFT1-related disorder | Likely benign (Jan 14, 2024) | ||
8-11802851-C-A | Squalene synthase deficiency | Uncertain significance (Jul 20, 2020) | ||
8-11802916-GC-G | not specified | Uncertain significance (Dec 08, 2023) | ||
8-11803341-G-A | Likely benign (Jul 01, 2023) | |||
8-11808296-C-T | FDFT1-related disorder | Benign (Nov 25, 2020) | ||
8-11808562-G-C | FDFT1-related disorder | Likely benign (Jul 01, 2024) | ||
8-11808586-C-T | Likely benign (Feb 01, 2023) | |||
8-11808615-C-G | FDFT1-related disorder | Benign/Likely benign (Nov 01, 2023) | ||
8-11808649-C-G | FDFT1-related disorder | Benign (Nov 30, 2023) | ||
8-11808664-C-G | FDFT1-related disorder | Likely benign (Nov 07, 2022) | ||
8-11808693-G-A | Squalene synthase deficiency | Uncertain significance (Feb 02, 2022) | ||
8-11808704-C-CCCCACT | Uncertain significance (Aug 01, 2023) | |||
8-11808709-G-C | FDFT1-related disorder | Uncertain significance (Aug 01, 2023) | ||
8-11808709-GTCCCAC-G | FDFT1-related disorder | Benign (Sep 05, 2019) | ||
8-11808709-GTCCCACTCCCAC-G | FDFT1-related disorder | Benign (Dec 05, 2019) | ||
8-11808709-G-GTCCCACTCCCACTCCCACTCCCACTCCCAC | Squalene synthase deficiency | Uncertain significance (Mar 19, 2020) | ||
8-11808709-G-GTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCAC | FDFT1-related disorder | Uncertain significance (Jul 21, 2023) | ||
8-11808709-G-GTCCCACTCCCACTCCCACTCCCAC | FDFT1-related disorder | Likely benign (Apr 01, 2024) | ||
8-11808709-G-GTCCCACTCCCACTCCCAC | FDFT1-related disorder | Benign (Sep 05, 2019) | ||
8-11808754-C-T | Likely benign (Apr 01, 2022) | |||
8-11808804-G-A | Uncertain significance (-) | |||
8-11808810-G-C | not specified | Uncertain significance (Aug 02, 2022) | ||
8-11808814-G-C | Likely benign (Jun 28, 2017) | |||
8-11808823-C-G | Uncertain significance (May 01, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
FDFT1 | protein_coding | protein_coding | ENST00000220584 | 8 | 43737 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
4.10e-15 | 0.00625 | 125700 | 0 | 48 | 125748 | 0.000191 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -3.88 | 408 | 239 | 1.71 | 0.0000129 | 2754 |
Missense in Polyphen | 105 | 78.436 | 1.3387 | 962 | ||
Synonymous | -7.30 | 172 | 86.0 | 2.00 | 0.00000452 | 768 |
Loss of Function | -0.394 | 21 | 19.1 | 1.10 | 8.96e-7 | 233 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000346 | 0.000341 |
Ashkenazi Jewish | 0.000203 | 0.000198 |
East Asian | 0.000329 | 0.000326 |
Finnish | 0.0000464 | 0.0000462 |
European (Non-Finnish) | 0.000249 | 0.000246 |
Middle Eastern | 0.000329 | 0.000326 |
South Asian | 0.000100 | 0.0000980 |
Other | 0.000163 | 0.000163 |
dbNSFP
Source:
- Pathway
- Steroid biosynthesis - Homo sapiens (human);Bisphosphonate Pathway, Pharmacodynamics;Statin Pathway, Pharmacodynamics;Simvastatin Action Pathway;Pravastatin Action Pathway;Atorvastatin Action Pathway;Hyper-IgD syndrome;Cholesteryl ester storage disease;Lysosomal Acid Lipase Deficiency (Wolman Disease);Alendronate Action Pathway;Rosuvastatin Action Pathway;Lovastatin Action Pathway;Mevalonic aciduria;Wolman disease;Risedronate Action Pathway;Cerivastatin Action Pathway;Pamidronate Action Pathway;Fluvastatin Action Pathway;Smith-Lemli-Opitz Syndrome (SLOS);Chondrodysplasia Punctata II, X Linked Dominant (CDPX2);CHILD Syndrome;Desmosterolosis;Hypercholesterolemia;Steroid Biosynthesis;Zoledronate Action Pathway;Ibandronate Action Pathway;Cholesterol Biosynthesis;Sterol Regulatory Element-Binding Proteins (SREBP) signalling;Activation of gene expression by SREBF (SREBP);Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha);Demo complete;Statin Pathway;Metabolism of lipids;Regulation of cholesterol biosynthesis by SREBP (SREBF);Squalene and cholesterol biosynthesis;Metabolism;cholesterol biosynthesis III (via desmosterol);cholesterol biosynthesis II (via 24,25-dihydrolanosterol);superpathway of cholesterol biosynthesis;Metabolism of steroids;epoxysqualene biosynthesis;cholesterol biosynthesis I;Steroids metabolism;Cholesterol biosynthesis;Activation of gene expression by SREBF (SREBP)
(Consensus)
Recessive Scores
- pRec
- 0.267
Intolerance Scores
- loftool
- 0.320
- rvis_EVS
- -1.13
- rvis_percentile_EVS
- 6.48
Haploinsufficiency Scores
- pHI
- 0.181
- hipred
- hipred_score
- ghis
- 0.622
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- H
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.999
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Fdft1
- 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; growth/size/body region phenotype; 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); skeleton phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); embryo phenotype;
Gene ontology
- Biological process
- steroid biosynthetic process;cholesterol biosynthetic process;ergosterol biosynthetic process;isoprenoid biosynthetic process;regulation of lipid metabolic process;farnesyl diphosphate metabolic process;regulation of cholesterol biosynthetic process
- Cellular component
- endoplasmic reticulum;endoplasmic reticulum membrane;integral component of membrane
- Molecular function
- farnesyl-diphosphate farnesyltransferase activity;protein binding;squalene synthase activity