UBA1 ubiquitin like modifier activating enzyme 1

Information
Symbol
UBA1
Type
protein-coding
Description
ubiquitin like modifier activating enzyme 1
Entrez Gene ID
7317
Genome
hg19
Position
chrX:47,053,228-47,074,527
Genome
hg38
Position
chrX:47,193,829-47,215,128
MIM
314370 OMIM
HGNC
HGNC:12469 HGNC
Ensembl
ENSG00000130985 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Likely pathogenic 0 2
Benign 0 226
Likely benign 0 498
Conflicting classifications of pathogenicity 0 34
not provided 6 0
Uncertain significance 0 456
Ranking
ClinVar
0
0
226
872
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
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 A1S9
SYNONYM A1S9T
SYNONYM A1ST
SYNONYM AMCX1
SYNONYM CFAP124
SYNONYM GXP1
SYNONYM POC20
SYNONYM SMAX2
SYNONYM UBA1A
SYNONYM UBE1
SYNONYM UBE1X
SYNONYM VEXAS
MIM 314370 OMIM
HGNC HGNC:12469 HGNC
Ensembl ENSG00000130985 Ensembl
AllianceGenome HGNC:12469
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000377269.3 hg38 chrX 47,208,562 47,215,126 6,565
ENST00000377351.8 hg38 chrX 47,190,861 47,215,128 24,268
ENST00000335972.11 hg38 chrX 47,193,829 47,215,128 21,300
ENST00000377351.8 hg19 chrX 47,050,260 47,074,527 24,268
ENST00000335972.11 hg19 chrX 47,053,228 47,074,527 21,300
ENST00000377269.3 hg19 chrX 47,067,961 47,074,525 6,565
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