DAXX death domain associated protein

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Information

Symbol: DAXX
Type: protein-coding
Description: death domain associated protein
Entrez Gene ID: 1616
Genome: hg19
Position: chr6:33,286,335-33,290,787
Genome: hg38
Position: chr6:33,318,558-33,323,010
MIM: 603186 OMIM
HGNC: HGNC:2681 HGNC
Ensembl: ENSG00000204209 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	1	0
Likely pathogenic	0	6
Benign	0	6
Likely benign	0	14
not provided	15	0
Uncertain significance	3	48

Ranking

	ClinVar
	0
	0
	0
	68
	6

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

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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
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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	BING2
SYNONYM	DAP6
SYNONYM	EAP1
SYNONYM	SMIM40
MIM	603186 OMIM
HGNC	HGNC:2681 HGNC
Ensembl	ENSG00000204209 Ensembl
AllianceGenome	HGNC:2681

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000620164.4	hg38	chr6	33,318,559	33,323,016	4,458
ENST00000266000.10	hg38	chr6	33,318,558	33,323,010	4,453
ENST00000706094.1	hg38	chr6	33,318,558	33,323,010	4,453
ENST00000414083.6	hg38	chr6	33,318,559	33,323,016	4,458
ENST00000374542.10	hg38	chr6	33,318,558	33,322,959	4,402
ENST00000374542.10	hg19	chr6	33,286,335	33,290,736	4,402
ENST00000706094.1	hg19	chr6	33,286,335	33,290,787	4,453
ENST00000266000.10	hg19	chr6	33,286,335	33,290,787	4,453
ENST00000414083.6	hg19	chr6	33,286,336	33,290,793	4,458
ENST00000620164.4	hg19	chr6	33,286,336	33,290,793	4,458

Key	Value
strand	-
start	33,286,334
Vogelstein	TSG
Gene Symbol	DAXX
Entrez GeneId	1,616
Chr Band	6p21.3
end	33,290,792
chr	chr6
Name	death-domain associated protein

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