UBQLN2 ubiquilin 2

Information
Symbol
UBQLN2
Type
protein-coding
Description
ubiquilin 2
Entrez Gene ID
29978
Genome
hg19
Position
chrX:56,590,060-56,594,301
Genome
hg38
Position
chrX:56,563,627-56,567,868
MIM
300264 OMIM
HGNC
HGNC:12509 HGNC
Ensembl
ENSG00000188021 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 6
Likely pathogenic 0 4
Benign 0 28
Likely benign 0 90
Conflicting classifications of pathogenicity 0 14
not provided 6 0
Uncertain significance 0 196
Ranking
ClinVar
0
0
28
284
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 ALS15
SYNONYM CHAP1
SYNONYM DSK2
SYNONYM HRIHFB2157
SYNONYM N4BP4
SYNONYM PLIC2
MIM 300264 OMIM
HGNC HGNC:12509 HGNC
Ensembl ENSG00000188021 Ensembl
AllianceGenome HGNC:12509
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000338222.7 hg38 chrX 56,563,627 56,567,868 4,242
ENST00000338222.7 hg19 chrX 56,590,060 56,594,301 4,242
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