USP27X ubiquitin specific peptidase 27 X-linked

Information
Symbol
USP27X
Type
protein-coding
Description
ubiquitin specific peptidase 27 X-linked
Entrez Gene ID
389856
Genome
hg19
Position
chrX:49,644,087-49,647,162
Genome
hg38
Position
chrX:49,879,484-49,882,558
MIM
300975 OMIM
HGNC
HGNC:13486 HGNC
Ensembl
ENSG00000273820 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 6
Likely pathogenic 0 12
Benign 0 6
Likely benign 0 12
Conflicting classifications of pathogenicity 0 2
not provided 6 0
Uncertain significance 0 46
Ranking
ClinVar
0
0
4
70
6
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
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
SYNONYM MRX105
SYNONYM USP22L
SYNONYM USP27
SYNONYM XLID105
MIM 300975 OMIM
HGNC HGNC:13486 HGNC
Ensembl ENSG00000273820 Ensembl
AllianceGenome HGNC:13486
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000621775.2 hg38 chrX 49,879,484 49,882,558 3,075
ENST00000621775.2 hg19 chrX 49,644,087 49,647,162 3,076
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