SPOP speckle type BTB/POZ protein

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: SPOP
Type: protein-coding
Description: speckle type BTB/POZ protein
Entrez Gene ID: 8405
Genome: hg19
Position: chr17:47,676,246-47,755,472
Genome: hg38
Position: chr17:49,598,884-49,678,110
MIM: 602650 OMIM
HGNC: HGNC:11254 HGNC
Ensembl: ENSG00000121067 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	1	10
Likely pathogenic	0	48
Benign	0	2
Likely benign	0	14
Conflicting classifications of pathogenicity	0	10
not provided	22	2
Uncertain significance	0	342

Ranking

	ClinVar
	0
	0
	6
	70
	342

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	BTBD32
SYNONYM	NEDMACE
SYNONYM	NEDMIDF
SYNONYM	NSDVS1
SYNONYM	NSDVS2
SYNONYM	TEF2
MIM	602650 OMIM
HGNC	HGNC:11254 HGNC
Ensembl	ENSG00000121067 Ensembl
AllianceGenome	HGNC:11254

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000347630.6	hg38	chr17	49,598,886	49,678,163	79,278
ENST00000503676.5	hg38	chr17	49,600,203	49,646,630	46,428
ENST00000393328.6	hg38	chr17	49,598,884	49,678,110	79,227
ENST00000509079.6	hg38	chr17	49,599,990	49,678,110	78,121
ENST00000665825.1	hg38	chr17	49,599,527	49,678,000	78,474
ENST00000514121.6	hg38	chr17	49,599,547	49,678,099	78,553
ENST00000504102.6	hg38	chr17	49,598,884	49,678,097	79,214
ENST00000393328.6	hg19	chr17	47,676,246	47,755,472	79,227
ENST00000347630.6	hg19	chr17	47,676,248	47,755,525	79,278
ENST00000504102.6	hg19	chr17	47,676,246	47,755,459	79,214
ENST00000503676.5	hg19	chr17	47,677,565	47,723,992	46,428
ENST00000509079.6	hg19	chr17	47,677,352	47,755,472	78,121
ENST00000514121.6	hg19	chr17	47,676,909	47,755,461	78,553
ENST00000665825.1	hg19	chr17	47,676,889	47,755,362	78,474

Key	Value
strand	-
start	47,676,245
Vogelstein	OG
Gene Symbol	SPOP
Entrez GeneId	8,405
Chr Band	17q21.33
end	47,755,524
chr	chr17
Name	speckle type POZ protein

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