FDFT1

farnesyl-diphosphate farnesyltransferase 1

Basic information

Region (hg38): 8:11795573-11839395

Links

ENSG00000079459NCBI:2222OMIM:184420HGNC:3629Uniprot:P37268AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

  • squalene synthase deficiency (Limited), mode of inheritance: AR
  • squalene synthase deficiency (Limited), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Squalene synthase deficiencyARGeneralGenetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testingBiochemical; Cardiovascular; Craniofacial; Gastrointestinal; Musculoskeletal; Neurologic29909962

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FDFT1 gene.

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
clinvar
6
clinvar
16
missense
35
clinvar
3
clinvar
3
clinvar
41
nonsense
1
clinvar
1
start loss
0
frameshift
1
clinvar
1
inframe indel
1
clinvar
1
splice donor/acceptor (+/-2bp)
1
clinvar
1
clinvar
2
splice region
1
1
non coding
1
clinvar
5
clinvar
9
clinvar
7
clinvar
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)587362
8-11802831-G-A FDFT1-related disorder Likely benign (Jan 14, 2024)3048321
8-11802851-C-A Squalene synthase deficiency Uncertain significance (Jul 20, 2020)1028763
8-11802916-GC-G not specified Uncertain significance (Dec 08, 2023)2691547
8-11803341-G-A Likely benign (Jul 01, 2023)2499068
8-11808296-C-T FDFT1-related disorder Benign (Nov 25, 2020)3054358
8-11808562-G-C FDFT1-related disorder Likely benign (Jul 01, 2024)1049617
8-11808586-C-T Likely benign (Feb 01, 2023)2658413
8-11808615-C-G FDFT1-related disorder Benign/Likely benign (Nov 01, 2023)2571307
8-11808649-C-G FDFT1-related disorder Benign (Nov 30, 2023)3037723
8-11808664-C-G FDFT1-related disorder Likely benign (Nov 07, 2022)3050246
8-11808693-G-A Squalene synthase deficiency Uncertain significance (Feb 02, 2022)1805053
8-11808704-C-CCCCACT Uncertain significance (Aug 01, 2023)2579043
8-11808709-G-C FDFT1-related disorder Uncertain significance (Aug 01, 2023)2579044
8-11808709-GTCCCAC-G FDFT1-related disorder Benign (Sep 05, 2019)3060113
8-11808709-GTCCCACTCCCAC-G FDFT1-related disorder Benign (Dec 05, 2019)3057202
8-11808709-G-GTCCCACTCCCACTCCCACTCCCACTCCCAC Squalene synthase deficiency Uncertain significance (Mar 19, 2020)1301611
8-11808709-G-GTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCAC FDFT1-related disorder Uncertain significance (Jul 21, 2023)2631608
8-11808709-G-GTCCCACTCCCACTCCCACTCCCAC FDFT1-related disorder Likely benign (Apr 01, 2024)3051193
8-11808709-G-GTCCCACTCCCACTCCCAC FDFT1-related disorder Benign (Sep 05, 2019)3043487
8-11808754-C-T Likely benign (Apr 01, 2022)2658414
8-11808804-G-A Uncertain significance (-)1050011
8-11808810-G-C not specified Uncertain significance (Aug 02, 2022)2373252
8-11808814-G-C Likely benign (Jun 28, 2017)782853
8-11808823-C-G Uncertain significance (May 01, 2023)1299105

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
FDFT1protein_codingprotein_codingENST00000220584 843737
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
4.10e-150.006251257000481257480.000191
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-3.884082391.710.00001292754
Missense in Polyphen10578.4361.3387962
Synonymous-7.3017286.02.000.00000452768
Loss of Function-0.3942119.11.108.96e-7233

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0003460.000341
Ashkenazi Jewish0.0002030.000198
East Asian0.0003290.000326
Finnish0.00004640.0000462
European (Non-Finnish)0.0002490.000246
Middle Eastern0.0003290.000326
South Asian0.0001000.0000980
Other0.0001630.000163

dbNSFP

Source: dbNSFP

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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