DKC1 dyskerin pseudouridine synthase 1

Information
Symbol
DKC1
Type
protein-coding
Description
dyskerin pseudouridine synthase 1
Entrez Gene ID
1736
Genome
hg19
Position
chrX:153,991,139-154,005,964
Genome
hg38
Position
chrX:154,762,864-154,777,689
MIM
300126 OMIM
HGNC
HGNC:2890 HGNC
Ensembl
ENSG00000130826 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 10 34
Likely pathogenic 0 24
Benign 0 64
Likely benign 0 488
Conflicting classifications of pathogenicity 0 32
Likely risk allele 0 4
not provided 6 40
Uncertain significance 0 216
Ranking
ClinVar
0
0
86
706
26
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 CBF5
SYNONYM CHINE1
SYNONYM DKC
SYNONYM DKCX
SYNONYM NAP57
SYNONYM NOLA4
SYNONYM XAP101
MIM 300126 OMIM
HGNC HGNC:2890 HGNC
Ensembl ENSG00000130826 Ensembl
AllianceGenome HGNC:2890
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000696575.1 hg38 chrX 154,762,853 154,777,228 14,376
ENST00000696577.1 hg38 chrX 154,762,864 154,777,613 14,750
ENST00000696628.1 hg38 chrX 154,762,915 154,777,684 14,770
ENST00000696588.1 hg38 chrX 154,764,239 154,777,664 13,426
ENST00000696587.1 hg38 chrX 154,762,951 154,777,663 14,713
ENST00000369550.10 hg38 chrX 154,762,864 154,777,689 14,826
ENST00000696580.1 hg38 chrX 154,762,868 154,777,665 14,798
ENST00000696583.1 hg38 chrX 154,762,881 154,777,660 14,780
ENST00000369550.10 hg19 chrX 153,991,139 154,005,964 14,826
ENST00000696575.1 hg19 chrX 153,991,128 154,005,503 14,376
ENST00000696577.1 hg19 chrX 153,991,139 154,005,888 14,750
ENST00000696580.1 hg19 chrX 153,991,143 154,005,940 14,798
ENST00000696583.1 hg19 chrX 153,991,156 154,005,935 14,780
ENST00000696587.1 hg19 chrX 153,991,226 154,005,938 14,713
ENST00000696588.1 hg19 chrX 153,992,514 154,005,939 13,426
ENST00000696628.1 hg19 chrX 153,991,190 154,005,959 14,770
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