PRMT5 protein arginine methyltransferase 5

Information
Symbol
PRMT5
Type
protein-coding
Description
protein arginine methyltransferase 5
Entrez Gene ID
10419
Genome
hg19
Position
chr14:23,389,738-23,398,585
Genome
hg38
Position
chr14:22,920,529-22,929,376
MIM
604045 OMIM
HGNC
HGNC:10894 HGNC
Ensembl
ENSG00000100462 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 6
Likely benign 0 8
Uncertain significance 0 28
Ranking
ClinVar
0
0
0
42
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 :
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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 HRMT1L5
SYNONYM HSL7
SYNONYM IBP72
SYNONYM JBP1
SYNONYM SKB1
SYNONYM SKB1Hs
MIM 604045 OMIM
HGNC HGNC:10894 HGNC
Ensembl ENSG00000100462 Ensembl
AllianceGenome HGNC:10894
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000553897.5 hg38 chr14 22,920,876 22,929,408 8,533
ENST00000627278.1 hg38 chr14 22,927,596 22,929,361 1,766
ENST00000324366.13 hg38 chr14 22,920,529 22,929,376 8,848
ENST00000397440.8 hg38 chr14 22,920,529 22,929,356 8,828
ENST00000397441.6 hg38 chr14 22,920,525 22,929,401 8,877
ENST00000216350.12 hg38 chr14 22,920,530 22,929,391 8,862
ENST00000397441.6 hg19 chr14 23,389,734 23,398,610 8,877
ENST00000397440.8 hg19 chr14 23,389,738 23,398,565 8,828
ENST00000324366.13 hg19 chr14 23,389,738 23,398,585 8,848
ENST00000216350.12 hg19 chr14 23,389,739 23,398,600 8,862
ENST00000553897.5 hg19 chr14 23,390,085 23,398,617 8,533
ENST00000627278.1 hg19 chr14 23,396,805 23,398,570 1,766
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