Acy1 - SNV Details



 Human Rare Diseases 
Neurological conditions associated with aminoacylase 1 deficiency

 Gene Information 
Gene Name Acy1
Old Gene Names for Acy1 1110014j22rik , Acy-1
Gene Description aminoacylase 1 [Source:MGI Symbol;Acc:MGI:87913]
Uniprot Name
CCDS Name
Gene GO
metallopeptidase activity; aminoacylase activity; hydrolase activity; cytoplasm; metal ion binding; cellular amino acid metabolic process; metabolic process; proteolysis
Homolog in other species ACY1
Omim http://omim.org/entry/104620
Immgen Expression
MEDIAN(HIGH IN DC.PDC.8-.SP, DC.PDC.8+.SP)
Gnf Expression
LOW/MEDIAN(HIGH IN KIDNEY, LIVER, BLASTOCYSTS, GI GROUP)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000023262
Chromosome 9
Coordinate 106,436,807     (Assembly: GRCm38)    
Ref Base A
Var Base C
Zygosity Heterozygous
Read Depth 24
Allele Frequency
A:R0.54
C:V0.46
Amino Acid Change Disrupted splicing
Splice Position 7
Sample ID IGL01670
Median Base Quality 36
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 47 Other Mutations

 Predictions 
Druggable Yes, View known drug interactions

 Availability Details 
Availability