PJA1 praja ring finger ubiquitin ligase 1

Information
Symbol
PJA1
Type
protein-coding
Description
praja ring finger ubiquitin ligase 1
Entrez Gene ID
64219
Genome
hg19
Position
chrX:68,380,705-68,385,364
Genome
hg38
Position
chrX:69,160,862-69,165,521
MIM
300420 OMIM
HGNC
HGNC:16648 HGNC
Ensembl
ENSG00000181191 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 6
Likely benign 0 14
not provided 6 0
Uncertain significance 0 52
Ranking
ClinVar
0
0
2
66
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 :
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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
SYNONYM PRAJA1
SYNONYM RNF70
MIM 300420 OMIM
HGNC HGNC:16648 HGNC
Ensembl ENSG00000181191 Ensembl
AllianceGenome HGNC:16648
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000374584.3 hg38 chrX 69,160,854 69,165,437 4,584
ENST00000374583.1 hg38 chrX 69,160,854 69,163,545 2,692
ENST00000374571.5 hg38 chrX 69,160,861 69,165,453 4,593
ENST00000361478.1 hg38 chrX 69,160,862 69,165,521 4,660
ENST00000374583.1 hg19 chrX 68,380,697 68,383,388 2,692
ENST00000374584.3 hg19 chrX 68,380,697 68,385,280 4,584
ENST00000374571.5 hg19 chrX 68,380,704 68,385,296 4,593
ENST00000361478.1 hg19 chrX 68,380,705 68,385,364 4,660
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