FN3K

fructosamine 3 kinase

Basic information

Region (hg38): 17:82735615-82751196

Links

ENSG00000167363 ∙ NCBI:64122 ∙ OMIM:608425 ∙ HGNC:24822 ∙ Uniprot:Q9H479 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FN3K gene.

• not_specified (51 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FN3K gene is commonly pathogenic or not. These statistics are base on transcript: NM_000022158.4. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			50	1		51
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	50	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FN3K	protein_coding	protein_coding	ENST00000300784	6	15623

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.06e-8	0.260	125670	0	78	125748	0.000310

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0510	188	190	0.990	0.0000122	1994
Missense in Polyphen		68	68.054	0.9992		726
Synonymous	-0.436	90	84.9	1.06	0.00000616	611
Loss of Function	0.513	13	15.2	0.858	9.42e-7	150

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000927	0.000927
Ashkenazi Jewish	0.0000994	0.0000992
East Asian	0.000490	0.000489
Finnish	0.00	0.00
European (Non-Finnish)	0.000158	0.000158
Middle Eastern	0.000490	0.000489
South Asian	0.000524	0.000523
Other	0.000328	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May initiate a process leading to the deglycation of fructoselysine and of glycated proteins. May play a role in the phosphorylation of 1-deoxy-1-morpholinofructose (DMF), fructoselysine, fructoseglycine, fructose and glycated lysozyme.
• Pathway: Post-translational protein modification;Metabolism of proteins;Gamma carboxylation, hypusine formation and arylsulfatase activation (Consensus)

Recessive Scores

• pRec: 0.131

Intolerance Scores

• loftool: 0.629
• rvis_EVS: -0.14
• rvis_percentile_EVS: 43.57

Haploinsufficiency Scores

• pHI: 0.214
• hipred: N
• hipred_score: 0.187
• ghis: 0.544

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.964

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Fn3k
• Phenotype: renal/urinary system phenotype; cellular phenotype; homeostasis/metabolism phenotype

Gene ontology

• Biological process: phosphorylation;fructosamine metabolic process;fructoselysine metabolic process;epithelial cell differentiation;post-translational protein modification
• Cellular component: cellular_component;cytosol
• Molecular function: kinase activity;fructosamine-3-kinase activity