Fbp1 - SNV Details



 Human Rare Diseases 
Fructose-1,6-bisphosphatase deficiency

 Gene Information 
Gene Name Fbp1
Old Gene Names for Fbp1 Fbp3 , Fbp-1
Gene Description fructose bisphosphatase 1 [Source:MGI Symbol;Acc:MGI:95492]
Uniprot Name
CCDS Name
Gene GO
regulation of gluconeogenesis; cellular response to drug; negative regulation of glycolytic process; gluconeogenesis; fructose 1
6-bisphosphate 1-phosphatase activity; cytoplasm; dephosphorylation; metal ion binding; phosphoric ester hydrolase activity; monosaccharide binding; carbohydrate metabolic process; protein binding; protein homotetramerization; cellular response to magnesium ion; fructose 6-phosphate metabolic process; cytosol; extracellular vesicular exosome; AMP binding; negative regulation of cell growth; identical protein binding; negative regulation of Ras protein signal transduction
Homolog in other species FBP1
Omim http://omim.org/entry/611570
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
LOW/MEDIAN(HIGH IN KIDNEY, LIVER, SMALLINTESTINE)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000069805
Chromosome 13
Coordinate 62,875,143     (Assembly: GRCm38)    
Ref Base A
Var Base C
Zygosity Heterozygous
Read Depth 15
Allele Frequency
A:R0.60
C:V0.40
Amino Acid Change Disrupted splicing
Splice Position 6
Sample ID IGL02751
Median Base Quality 37
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 44 Other Mutations

 Predictions 
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved