USP44 ubiquitin specific peptidase 44

Information
Symbol
USP44
Type
protein-coding
Description
ubiquitin specific peptidase 44
Entrez Gene ID
84101
Genome
hg19
Position
chr12:95,910,336-95,945,252
Genome
hg38
Position
chr12:95,516,560-95,551,476
MIM
610993 OMIM
HGNC
HGNC:20064 HGNC
Ensembl
ENSG00000136014 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 10
Likely benign 0 12
not provided 0 2
Uncertain significance 0 60
Ranking
ClinVar
0
0
2
78
2
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
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Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
MIM 610993 OMIM
HGNC HGNC:20064 HGNC
Ensembl ENSG00000136014 Ensembl
AllianceGenome HGNC:20064
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000537435.2 hg38 chr12 95,518,154 95,548,272 30,119
ENST00000258499.8 hg38 chr12 95,516,560 95,551,476 34,917
ENST00000552440.5 hg38 chr12 95,518,143 95,534,326 16,184
ENST00000393091.6 hg38 chr12 95,517,276 95,548,844 31,569
ENST00000258499.8 hg19 chr12 95,910,336 95,945,252 34,917
ENST00000393091.6 hg19 chr12 95,911,052 95,942,620 31,569
ENST00000552440.5 hg19 chr12 95,911,919 95,928,102 16,184
ENST00000537435.2 hg19 chr12 95,911,930 95,942,048 30,119
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