STUB1 STIP1 homology and U-box containing protein 1

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: STUB1
Type: protein-coding
Description: STIP1 homology and U-box containing protein 1
Entrez Gene ID: 10273
Genome: hg19
Position: chr16:730,410-732,801
Genome: hg38
Position: chr16:680,410-682,801
MIM: 607207 OMIM
HGNC: HGNC:11427 HGNC
Ensembl: ENSG00000103266 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	46
Likely pathogenic	0	38
Benign	0	24
Likely benign	0	104
Conflicting classifications of pathogenicity	0	10
Uncertain significance	0	130

Ranking

	ClinVar
	0
	0
	34
	276
	20

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	:
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	CHIP
SYNONYM	HSPABP2
SYNONYM	NY-CO-7
SYNONYM	SCA48
SYNONYM	SCAR16
SYNONYM	SDCCAG7
SYNONYM	UBOX1
MIM	607207 OMIM
HGNC	HGNC:11427 HGNC
Ensembl	ENSG00000103266 Ensembl
AllianceGenome	HGNC:11427

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000219548.9	hg38	chr16	680,410	682,801	2,392
ENST00000564370.5	hg38	chr16	681,037	682,496	1,460
ENST00000565677.5	hg38	chr16	680,224	682,746	2,523
ENST00000565677.5	hg19	chr16	730,224	732,746	2,523
ENST00000219548.9	hg19	chr16	730,410	732,801	2,392
ENST00000564370.5	hg19	chr16	731,037	732,496	1,460

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