CTU2 cytosolic thiouridylase subunit 2

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Variants
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Information

Symbol: CTU2
Type: protein-coding
Description: cytosolic thiouridylase subunit 2
Entrez Gene ID: 348180
Genome: hg19
Position: chr16:88,772,930-88,781,794
Genome: hg38
Position: chr16:88,706,522-88,715,386
MIM: 617057 OMIM
HGNC: HGNC:28005 HGNC
Ensembl: ENSG00000174177 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	10
Likely pathogenic	0	4
Benign	0	104
Likely benign	0	126
Conflicting classifications of pathogenicity	0	14
Uncertain significance	0	224

Ranking

	ClinVar
	0
	0
	74
	380
	4

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

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Target data	:	MGeND data only
Category	:
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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
SYNONYM	C16orf84
SYNONYM	MFRG
SYNONYM	NCS2
SYNONYM	UPF0432
MIM	617057 OMIM
HGNC	HGNC:28005 HGNC
Ensembl	ENSG00000174177 Ensembl
AllianceGenome	HGNC:28005

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000453996.7	hg38	chr16	88,706,503	88,715,396	8,894
ENST00000567949.5	hg38	chr16	88,706,522	88,715,386	8,865
ENST00000312060.9	hg38	chr16	88,706,483	88,715,386	8,904
ENST00000312060.9	hg19	chr16	88,772,891	88,781,794	8,904
ENST00000453996.7	hg19	chr16	88,772,911	88,781,804	8,894
ENST00000567949.5	hg19	chr16	88,772,930	88,781,794	8,865

Key	Value
strand	+
start	88,772,870
Gene Symbol	CTU2
Entrez GeneId	348,180
Chr Band	16q24.3
end	88,781,785
chr	chr16

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