NOP53 NOP53 ribosome biogenesis factor

Information
Symbol
NOP53
Type
protein-coding
Description
NOP53 ribosome biogenesis factor
Entrez Gene ID
29997
Genome
hg19
Position
chr19:48,248,803-48,260,315
Genome
hg38
Position
chr19:47,745,546-47,757,058
MIM
605691 OMIM
HGNC
HGNC:4333 HGNC
Ensembl
ENSG00000105373 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 6
Likely benign 0 4
Uncertain significance 0 100
Ranking
ClinVar
0
0
0
110
0
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 :
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 GLTSCR2
SYNONYM PICT-1
SYNONYM PICT1
MIM 605691 OMIM
HGNC HGNC:4333 HGNC
Ensembl ENSG00000105373 Ensembl
AllianceGenome HGNC:4333
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000246802.10 hg38 chr19 47,745,546 47,757,058 11,513
ENST00000246802.10 hg19 chr19 48,248,803 48,260,315 11,513
Genome browser