FGGY

FGGY carbohydrate kinase domain containing

Basic information

Region (hg38): 1:59296638-59810647

Links

ENSG00000172456NCBI:55277OMIM:611370HGNC:25610Uniprot:Q96C11AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FGGY 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
0
missense
36
clinvar
2
clinvar
38
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
1
clinvar
1
splice region
0
non coding
0
Total 0 0 37 2 0

Variants in FGGY

This is a list of pathogenic ClinVar variants found in the FGGY region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
1-59321589-G-A not specified Uncertain significance (Jan 03, 2024)3094837
1-59321617-G-A not specified Uncertain significance (Oct 28, 2023)3094840
1-59321662-A-G not specified Uncertain significance (Jan 23, 2024)3094828
1-59321712-T-C not specified Uncertain significance (Feb 27, 2023)2490065
1-59340039-C-G not specified Uncertain significance (Aug 02, 2021)2240578
1-59340041-G-C not specified Uncertain significance (Oct 20, 2023)3094833
1-59340048-C-A not specified Uncertain significance (Feb 03, 2022)2218515
1-59346247-G-A not specified Likely benign (Dec 08, 2023)3094835
1-59346256-A-G not specified Uncertain significance (Dec 19, 2022)3094836
1-59346346-G-T not specified Uncertain significance (Apr 01, 2024)3278690
1-59346396-G-A not specified Uncertain significance (Jan 10, 2022)3094838
1-59346397-A-G not specified Uncertain significance (Jun 23, 2023)2588760
1-59378777-C-T not specified Uncertain significance (Dec 03, 2021)2403091
1-59378809-T-C not specified Uncertain significance (Jul 06, 2022)2359892
1-59378831-C-G not specified Uncertain significance (May 18, 2022)2400892
1-59457019-A-T not specified Uncertain significance (Oct 06, 2021)2370823
1-59457020-G-A not specified Uncertain significance (Aug 12, 2021)2352794
1-59457044-A-G not specified Uncertain significance (Jan 23, 2024)3094839
1-59512350-G-A not specified Uncertain significance (Apr 06, 2023)2533709
1-59512377-T-C not specified Uncertain significance (Jan 29, 2024)3094841
1-59512392-G-A not specified Uncertain significance (Aug 02, 2021)2395165
1-59512398-C-T not specified Uncertain significance (Jun 06, 2023)2520647
1-59554153-G-A not specified Uncertain significance (Jul 20, 2022)2302488
1-59554187-G-A not specified Uncertain significance (Jun 10, 2022)2208995
1-59554222-A-T not specified Uncertain significance (Feb 16, 2023)2486539

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
FGGYprotein_codingprotein_codingENST00000371218 16471038
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
3.19e-180.017412490638391257480.00335
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.1163313251.020.00001733738
Missense in Polyphen136134.431.01171510
Synonymous-0.6701371271.080.000007731131
Loss of Function0.5742932.50.8910.00000158374

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.004550.00454
Ashkenazi Jewish0.0003970.000397
East Asian0.0003820.000326
Finnish0.004620.00463
European (Non-Finnish)0.004850.00484
Middle Eastern0.0003820.000326
South Asian0.0009810.000948
Other0.003760.00375

dbNSFP

Source: dbNSFP

Disease
DISEASE: Amyotrophic lateral sclerosis (ALS) [MIM:105400]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5- 10% of the cases. {ECO:0000269|PubMed:17671248}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.;

Recessive Scores

pRec
0.141

Intolerance Scores

loftool
0.301
rvis_EVS
0.34
rvis_percentile_EVS
73.7

Haploinsufficiency Scores

pHI
0.105
hipred
N
hipred_score
0.216
ghis
0.454

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.158

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumHigh
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Fggy
Phenotype

Gene ontology

Biological process
pentose metabolic process;carbohydrate phosphorylation;neuron cellular homeostasis
Cellular component
cellular_component;cell
Molecular function
D-ribulokinase activity