RPUSD3 RNA pseudouridine synthase D3

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Variants
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Information

Symbol: RPUSD3
Type: protein-coding
Description: RNA pseudouridine synthase D3
Entrez Gene ID: 285367
Genome: hg19
Position: chr3:9,879,533-9,885,692
Genome: hg38
Position: chr3:9,837,849-9,844,008
MIM: 617759 OMIM
HGNC: HGNC:28437 HGNC
Ensembl: ENSG00000156990 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Likely pathogenic	0	4
Likely benign	0	4
Uncertain significance	0	36

Ranking

	ClinVar
	0
	0
	0
	44
	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

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Target data	:	MGeND data only
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Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	MGeND				Genome	ClinVar			CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction
Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	Entry	Origin	Type	Annotation	Genome	Entry	Origin	Annotation	CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction

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Target data	:	MGeND data only
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Name	MGeND				Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Search Word

Target data	:	MGeND data only
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Name	MGeND				Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Type	ID
MIM	617759 OMIM
HGNC	HGNC:28437 HGNC
Ensembl	ENSG00000156990 Ensembl
AllianceGenome	HGNC:28437

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000433972.2	hg38	chr3	9,841,257	9,844,008	2,752
ENST00000418713.6	hg38	chr3	9,839,941	9,844,008	4,068
ENST00000433535.7	hg38	chr3	9,837,849	9,844,008	6,160
ENST00000424438.5	hg38	chr3	9,838,020	9,843,942	5,923
ENST00000383820.10	hg38	chr3	9,837,849	9,844,008	6,160
ENST00000383820.10	hg19	chr3	9,879,533	9,885,692	6,160
ENST00000433535.7	hg19	chr3	9,879,533	9,885,692	6,160
ENST00000424438.5	hg19	chr3	9,879,704	9,885,626	5,923
ENST00000418713.6	hg19	chr3	9,881,625	9,885,692	4,068
ENST00000433972.2	hg19	chr3	9,882,941	9,885,692	2,752

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