CASS4 Cas scaffold protein family member 4

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: CASS4
Type: protein-coding
Description: Cas scaffold protein family member 4
Entrez Gene ID: 57091
Genome: hg19
Position: chr20:54,987,316-55,035,438
Genome: hg38
Position: chr20:56,412,260-56,460,382
MIM: 618888 OMIM
HGNC: HGNC:15878 HGNC
Ensembl: ENSG00000087589 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Benign	23	6
Likely benign	0	24
not provided	1	0
Uncertain significance	0	64

Ranking

	ClinVar
	0
	0
	0
	94
	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

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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

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	:
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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	C20orf32
SYNONYM	CAS4
SYNONYM	HEFL
SYNONYM	HEPL
MIM	618888 OMIM
HGNC	HGNC:15878 HGNC
Ensembl	ENSG00000087589 Ensembl
AllianceGenome	HGNC:15878

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000679529.1	hg38	chr20	56,412,393	56,459,004	46,612
ENST00000434344.2	hg38	chr20	56,412,261	56,460,387	48,127
ENST00000360314.7	hg38	chr20	56,412,112	56,458,780	46,669
ENST00000679887.1	hg38	chr20	56,412,260	56,460,382	48,123
ENST00000360314.7	hg19	chr20	54,987,168	55,033,836	46,669
ENST00000679887.1	hg19	chr20	54,987,316	55,035,438	48,123
ENST00000434344.2	hg19	chr20	54,987,317	55,035,443	48,127
ENST00000679529.1	hg19	chr20	54,987,449	55,034,060	46,612

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