FN3KRP

fructosamine 3 kinase related protein

Basic information

Region (hg38): 17:82716706-82730328

Links

ENSG00000141560 ∙ NCBI:79672 ∙ OMIM:611683 ∙ HGNC:25700 ∙ Uniprot:Q9HA64 ∙ 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 FN3KRP gene.

• not_specified (74 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FN3KRP gene is commonly pathogenic or not. These statistics are base on transcript: NM_000024619.4. 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			71	3		74
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	71	3	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FN3KRP	protein_coding	protein_coding	ENST00000269373	6	13646

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.56e-9	0.115	125553	2	193	125748	0.000776

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.330	199	186	1.07	0.0000106	2008
Missense in Polyphen		82	84.743	0.96763		953
Synonymous	-0.636	81	74.0	1.09	0.00000452	590
Loss of Function	0.0774	13	13.3	0.977	5.72e-7	159

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000700	0.000700
Ashkenazi Jewish	0.00	0.00
East Asian	0.000218	0.000217
Finnish	0.000398	0.000370
European (Non-Finnish)	0.000325	0.000325
Middle Eastern	0.000218	0.000217
South Asian	0.00431	0.00426
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Phosphorylates psicosamines and ribulosamines, but not fructosamines, on the third carbon of the sugar moiety. Protein- bound psicosamine 3-phosphates and ribulosamine 3-phosphates are unstable and decompose under physiological conditions. Thus phosphorylation leads to deglycation. {ECO:0000269|PubMed:14633848, ECO:0000269|PubMed:15137908}.
• Pathway: Post-translational protein modification;Metabolism of proteins;Gamma carboxylation, hypusine formation and arylsulfatase activation (Consensus)

Intolerance Scores

• loftool: 0.854
• rvis_EVS: 0.02
• rvis_percentile_EVS: 55.61

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.177
• ghis: 0.525

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.778

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fn3krp

Gene ontology

• Biological process: phosphorylation;post-translational protein modification
• Cellular component: cytosol
• Molecular function: kinase activity