POU5F1 POU class 5 homeobox 1

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
Locus Zoom
Variants
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Information

Symbol: POU5F1
Type: protein-coding
Description: POU class 5 homeobox 1
Entrez Gene ID: 5460
Genome: hg19
Position: chr6:31,132,114-31,138,459
Genome: hg38
Position: chr6:31,164,337-31,170,682
MIM: 164177 OMIM
HGNC: HGNC:9221 HGNC
Ensembl: ENSG00000204531 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Likely benign	0	2
not provided	70	0
Uncertain significance	0	12

Ranking

	ClinVar
	0
	0
	0
	14
	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

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
Category	:
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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	:
Search word	:
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	OCT3
SYNONYM	OCT4
SYNONYM	OTF-3
SYNONYM	OTF3
SYNONYM	OTF4
SYNONYM	Oct-3
SYNONYM	Oct-4
SYNONYM	Oct3/4
MIM	164177 OMIM
HGNC	HGNC:9221 HGNC
Ensembl	ENSG00000204531 Ensembl
AllianceGenome	HGNC:9221

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000471529.6	hg38	chr6	31,164,347	31,166,838	2,492
ENST00000606567.6	hg38	chr6	31,164,348	31,166,838	2,491
ENST00000259915.13	hg38	chr6	31,164,337	31,170,682	6,346
ENST00000513407.1	hg38	chr6	31,164,351	31,167,170	2,820
ENST00000512818.5	hg38	chr6	31,164,351	31,166,838	2,488
ENST00000441888.7	hg38	chr6	31,164,337	31,180,731	16,395
ENST00000259915.13	hg19	chr6	31,132,114	31,138,459	6,346
ENST00000441888.7	hg19	chr6	31,132,114	31,148,508	16,395
ENST00000471529.6	hg19	chr6	31,132,124	31,134,615	2,492
ENST00000606567.6	hg19	chr6	31,132,125	31,134,615	2,491
ENST00000512818.5	hg19	chr6	31,132,128	31,134,615	2,488
ENST00000513407.1	hg19	chr6	31,132,128	31,134,947	2,820

Key	Value
strand	-
start	31,132,113
Gene Symbol	POU5F1
Entrez GeneId	5,460
Chr Band	6p21.31
end	31,138,469
chr	chr6
Name	POU domain, class 5, transcription factor 1

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