EWSR1 EWS RNA binding protein 1

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

Symbol: EWSR1
Type: protein-coding
Description: EWS RNA binding protein 1
Entrez Gene ID: 2130
Genome: hg19
Position: chr22:29,664,305-29,696,333
Genome: hg38
Position: chr22:29,268,316-29,300,343
MIM: 133450 OMIM
HGNC: HGNC:3508 HGNC
Ensembl: ENSG00000182944 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Benign	0	40
Likely benign	0	18
Conflicting classifications of pathogenicity	0	2
not provided	23	0
Uncertain significance	0	44

Ranking

	ClinVar
	0
	0
	4
	98
	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
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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	EWS
SYNONYM	EWS-FLI1
SYNONYM	bK984G1.4
MIM	133450 OMIM
HGNC	HGNC:3508 HGNC
Ensembl	ENSG00000182944 Ensembl
AllianceGenome	HGNC:3508

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000414183.6	hg38	chr22	29,268,316	29,300,343	32,028
ENST00000332035.10	hg38	chr22	29,268,326	29,300,336	32,011
ENST00000333395.11	hg38	chr22	29,268,268	29,290,684	22,417
ENST00000397938.7	hg38	chr22	29,268,268	29,300,521	32,254
ENST00000406548.5	hg38	chr22	29,268,273	29,300,336	32,064
ENST00000629659.2	hg38	chr22	29,268,009	29,300,524	32,516
ENST00000331029.11	hg38	chr22	29,268,291	29,300,525	32,235
ENST00000332050.10	hg38	chr22	29,268,009	29,300,522	32,514
ENST00000332050.10	hg19	chr22	29,663,998	29,696,512	32,515
ENST00000331029.11	hg19	chr22	29,664,280	29,696,515	32,236
ENST00000332035.10	hg19	chr22	29,664,315	29,696,326	32,012
ENST00000333395.11	hg19	chr22	29,664,257	29,686,673	22,417
ENST00000397938.7	hg19	chr22	29,664,257	29,696,511	32,255
ENST00000406548.5	hg19	chr22	29,664,262	29,696,326	32,065
ENST00000414183.6	hg19	chr22	29,664,305	29,696,333	32,029
ENST00000629659.2	hg19	chr22	29,663,998	29,696,514	32,517

Key	Value
strand	+
UniProt	OG
start	29,663,997
Gene Symbol	EWSR1
Entrez GeneId	2,130
Chr Band	22q12
end	29,696,514
chr	chr22
Name	Ewing sarcoma breakpoint region 1 (EWS)

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