HERPUD1 homocysteine inducible ER protein with ubiquitin like domain 1

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: HERPUD1
Type: protein-coding
Description: homocysteine inducible ER protein with ubiquitin like domain 1
Entrez Gene ID: 9709
Genome: hg19
Position: chr16:56,966,054-56,978,776
Genome: hg38
Position: chr16:56,932,142-56,944,864
MIM: 608070 OMIM
HGNC: HGNC:13744 HGNC
Ensembl: ENSG00000051108 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	2
Likely benign	0	4
Uncertain significance	0	10

Ranking

	ClinVar
	0
	0
	0
	16
	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
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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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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	HERP
SYNONYM	Mif1
SYNONYM	SUP
MIM	608070 OMIM
HGNC	HGNC:13744 HGNC
Ensembl	ENSG00000051108 Ensembl
AllianceGenome	HGNC:13744

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000379792.6	hg38	chr16	56,932,160	56,943,886	11,727
ENST00000439977.7	hg38	chr16	56,932,142	56,944,864	12,723
ENST00000300302.9	hg38	chr16	56,932,147	56,943,881	11,735
ENST00000344114.8	hg38	chr16	56,932,147	56,943,881	11,735
ENST00000439977.7	hg19	chr16	56,966,054	56,978,776	12,723
ENST00000300302.9	hg19	chr16	56,966,059	56,977,793	11,735
ENST00000344114.8	hg19	chr16	56,966,059	56,977,793	11,735
ENST00000379792.6	hg19	chr16	56,966,072	56,977,798	11,727

Key	Value
strand	+
start	56,966,001
Gene Symbol	HERPUD1
Entrez GeneId	9,709
Chr Band	16q12.2-q13
end	56,977,792
chr	chr16
Name	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1

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