PHF6 PHD finger protein 6

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: PHF6
Type: protein-coding
Description: PHD finger protein 6
Entrez Gene ID: 84295
Genome: hg19
Position: chrX:133,507,342-133,562,819
Genome: hg38
Position: chrX:134,373,312-134,428,789
MIM: 300414 OMIM
HGNC: HGNC:18145 HGNC
Ensembl: ENSG00000156531 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	60
Likely pathogenic	0	28
Benign	0	42
Likely benign	0	116
Conflicting classifications of pathogenicity	0	12
not provided	37	2
other	0	2
Uncertain significance	0	114

Ranking

	ClinVar
	0
	0
	50
	266
	34

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

Search Word

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	BFLS
SYNONYM	BORJ
SYNONYM	CENP-31
MIM	300414 OMIM
HGNC	HGNC:18145 HGNC
Ensembl	ENSG00000156531 Ensembl
AllianceGenome	HGNC:18145

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000370800.4	hg38	chrX	134,373,373	134,415,292	41,920
ENST00000370803.8	hg38	chrX	134,373,312	134,428,790	55,479
ENST00000691812.1	hg38	chrX	134,373,327	134,428,768	55,442
ENST00000688598.1	hg38	chrX	134,373,334	134,428,768	55,435
ENST00000370799.5	hg38	chrX	134,373,320	134,420,323	47,004
ENST00000687496.1	hg38	chrX	134,373,290	134,428,775	55,486
ENST00000625464.2	hg38	chrX	134,373,312	134,428,791	55,480
ENST00000685047.1	hg38	chrX	134,373,288	134,397,098	23,811
ENST00000332070.7	hg38	chrX	134,373,312	134,428,789	55,478
ENST00000685047.1	hg19	chrX	133,507,318	133,531,128	23,811
ENST00000687496.1	hg19	chrX	133,507,320	133,562,805	55,486
ENST00000332070.7	hg19	chrX	133,507,342	133,562,819	55,478
ENST00000370803.8	hg19	chrX	133,507,342	133,562,820	55,479
ENST00000625464.2	hg19	chrX	133,507,342	133,562,821	55,480
ENST00000370799.5	hg19	chrX	133,507,350	133,554,353	47,004
ENST00000691812.1	hg19	chrX	133,507,357	133,562,798	55,442
ENST00000688598.1	hg19	chrX	133,507,364	133,562,798	55,435
ENST00000370800.4	hg19	chrX	133,507,403	133,549,322	41,920

Key	Value
strand	+
start	133,507,341
Vogelstein	TSG
Gene Symbol	PHF6
Entrez GeneId	84,295
Chr Band	Xq26.3
end	133,562,821
chr	chrX
Name	PHD finger protein 6

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