Usp7 - SNV Details



 Gene Information 
Gene Name Usp7
Old Gene Names for Usp7 2210010o09rik , Aa617399 , Aa409944 , Au019296 , Aw548146 , C80752
Gene Description ubiquitin specific peptidase 7 [Source:MGI Symbol;Acc:MGI:2182061]
MGI phenotype Mice homozygous for a null allele show embryonic growth arrest and die between E6.5 and E7.5.
Uniprot Name
CCDS Name
Gene GO
maintenance of DNA methylation; ubiquitin thiolesterase activity; cytoplasm; regulation of protein stability; negative regulation of NF-kappaB transcription factor activity; regulation of sequence-specific DNA binding transcription factor activity; induction of apoptosis; protein C-terminus binding; ubiquitin protein ligase binding; protein homodimerization activity; ubiquitin-dependent protein catabolic process; protein binding; nucleus; p53 binding; cytosol; cysteine-type endopeptidase activity; transcription-coupled nucleotide-excision repair; ubiquitin-specific protease activity; protein deubiquitination; transcription factor binding
Homolog in other species USP7
Omim http://omim.org/entry/602519
Immgen Expression
HIGH
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000022710
Chromosome 16
Coordinate 8,716,513     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 35
Allele Frequency
A:R0.54
G:V0.43
Amino Acid Change Disrupted splicing
Splice Position 2
Sample ID IGL02113
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 48 Other Mutations

 Predictions 
Druggable Yes, View known drug interactions

 Availability Details 
Availability