SAE1 SUMO1 activating enzyme subunit 1

Go to:

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

Information

Symbol: SAE1
Type: protein-coding
Description: SUMO1 activating enzyme subunit 1
Entrez Gene ID: 10055
Genome: hg19
Position: chr19:47,634,092-47,713,893
Genome: hg38
Position: chr19:47,130,835-47,210,636
MIM: 613294 OMIM
HGNC: HGNC:30660 HGNC
Ensembl: ENSG00000142230 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Benign	0	2
Likely benign	0	4
Uncertain significance	0	26

Ranking

	ClinVar
	0
	0
	0
	32
	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

[No Data.]

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	AOS1
SYNONYM	HSPC140
SYNONYM	SUA1
SYNONYM	UBLE1A
MIM	613294 OMIM
HGNC	HGNC:30660 HGNC
Ensembl	ENSG00000142230 Ensembl
AllianceGenome	HGNC:30660

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000270225.12	hg38	chr19	47,130,835	47,210,636	79,802
ENST00000598840.5	hg38	chr19	47,130,838	47,210,191	79,354
ENST00000392776.3	hg38	chr19	47,130,895	47,210,170	79,276
ENST00000413379.7	hg38	chr19	47,130,829	47,210,636	79,808
ENST00000413379.7	hg19	chr19	47,634,086	47,713,893	79,808
ENST00000270225.12	hg19	chr19	47,634,092	47,713,893	79,802
ENST00000598840.5	hg19	chr19	47,634,095	47,713,448	79,354
ENST00000392776.3	hg19	chr19	47,634,152	47,713,427	79,276

Genome browser