UFL1 UFM1 specific ligase 1

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: UFL1
Type: protein-coding
Description: UFM1 specific ligase 1
Entrez Gene ID: 23376
Genome: hg19
Position: chr6:96,969,682-97,003,152
Genome: hg38
Position: chr6:96,521,806-96,555,276
MIM: 613372 OMIM
HGNC: HGNC:23039 HGNC
Ensembl: ENSG00000014123 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Benign	0	6
Uncertain significance	0	86

Ranking

	ClinVar
	0
	0
	0
	92
	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

Search Word

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
Category	:
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Filtering	:

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	KIAA0776
SYNONYM	Maxer
SYNONYM	NLBP
SYNONYM	RCAD
MIM	613372 OMIM
HGNC	HGNC:23039 HGNC
Ensembl	ENSG00000014123 Ensembl
AllianceGenome	HGNC:23039

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000369278.5	hg38	chr6	96,521,806	96,555,276	33,471
ENST00000369278.5	hg19	chr6	96,969,682	97,003,152	33,471

Key	Value
strand	+
UniProt	TSG
start	96,969,701
Gene Symbol	UFL1
Entrez GeneId	23,376
Chr Band	6q16.1
end	97,003,150
chr	chr6

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