SALL4 spalt like transcription factor 4

Go to:

Information
Clinical Significance
Ranking
Frequency
Disease area statistics
Locus Zoom
Variants
Genome browser

Information

Symbol: SALL4
Type: protein-coding
Description: spalt like transcription factor 4
Entrez Gene ID: 57167
Genome: hg19
Position: chr20:50,398,870-50,419,060
Genome: hg38
Position: chr20:51,782,331-51,802,521
MIM: 607343 OMIM
HGNC: HGNC:15924 HGNC
Ensembl: ENSG00000101115 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	66
Likely pathogenic	1	16
Benign	14	90
Likely benign	0	212
Conflicting classifications of pathogenicity	0	48
not provided	2	4
Uncertain significance	0	292

Ranking

	ClinVar
	0
	0
	138
	470
	26

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

Search Word

Target data	:	MGeND data only
Category	:
Search word	:
Filtering	:

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
Category	:
Search word	:
Filtering	:

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	DRRS
SYNONYM	HSAL4
SYNONYM	IVIC
SYNONYM	ZNF797
MIM	607343 OMIM
HGNC	HGNC:15924 HGNC
Ensembl	ENSG00000101115 Ensembl
AllianceGenome	HGNC:15924

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000371539.7	hg38	chr20	51,784,046	51,802,509	18,464
ENST00000217086.9	hg38	chr20	51,782,331	51,802,521	20,191
ENST00000395997.3	hg38	chr20	51,784,265	51,802,475	18,211
ENST00000217086.9	hg19	chr20	50,398,870	50,419,060	20,191
ENST00000371539.7	hg19	chr20	50,400,585	50,419,048	18,464
ENST00000395997.3	hg19	chr20	50,400,804	50,419,014	18,211

Genome browser