Hs05570982_cn

• Gene Symbol: EWSR1
• Assay Reference Genome Location: Chr.22:29284490 on build GRCh38
• Cytoband: 22q12.2

Target Gene Details

• Entrez Gene ID: 2130
• Gene Name: EWS RNA binding protein 1
• Gene Aliases: EWS, EWS-FLI1, bK984G1.4
• Location: Chr.22:29268009-29300525 on Build GRCh38
• Assay Gene Location: Within Intron 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EWSR1	NM_001163285.1			NP_001156757.1
	NM_001163286.1			NP_001156758.1
	NM_001163287.1			NP_001156759.1
	NM_005243.3			NP_005234.1
	NM_013986.3			NP_053733.2
	XM_005261389.3			XP_005261446.1
	XM_005261390.4			XP_005261447.1
	XM_011529995.2			XP_011528297.1
	XM_011529996.2			XP_011528298.1
	XM_011529997.1			XP_011528299.1
	XM_011529998.1			XP_011528300.1
	XM_011529999.2			XP_011528301.1
	XM_011530000.1			XP_011528302.1
	XM_011530001.2			XP_011528303.1
	XM_011530002.2			XP_011528304.1
	XM_017028644.1			XP_016884133.1
	XM_017028645.1			XP_016884134.1
	XM_017028646.1			XP_016884135.1
	XM_017028647.1			XP_016884136.1
	XM_017028648.1			XP_016884137.1
	XM_017028649.1			XP_016884138.1
	XM_017028650.1			XP_016884139.1
	XM_017028651.1			XP_016884140.1
	XM_017028652.1			XP_016884141.1
	XM_017028653.1			XP_016884142.1
	XM_017028654.1			XP_016884143.1
	XM_017028655.1			XP_016884144.1
	XM_017028656.1			XP_016884145.1
	XM_017028657.1			XP_016884146.1
	XM_017028658.1			XP_016884147.1
	XM_017028659.1			XP_016884148.1
	XM_017028660.1			XP_016884149.1
	XM_017028661.1			XP_016884150.1
	XM_017028662.1			XP_016884151.1
	XM_017028663.1			XP_016884152.1
	XM_017028664.1			XP_016884153.1
	XM_017028665.1			XP_016884154.1
	XM_017028666.1			XP_016884155.1
	AK056309.1			BAB71145.1
	AK056681.1			BAB71252.1
	AK127624.1
	AK225096.1
	AK225102.1
	BC000527.2			AAH00527.1
	BC004817.1			AAH04817.1
	BC011048.1			AAH11048.1
	BC072442.1			AAH72442.1
	BX648769.1
	CR456490.1			CAG30376.1
	CX786322.1
	DA051447.1
	JX977847.1
	X66899.1			CAA47350.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv2669638	Chr.22:29283419 - 29285901 on Build GRCh38	Deletion	EWSR1
esv3647529	Chr.22:29283431 - 29285907 on Build GRCh38	Loss	EWSR1
esv21927	Chr.22:29284294 - 29285816 on Build GRCh38	Loss	EWSR1
nsv834171	Chr.22:29230413 - 29433855 on Build GRCh38	Loss	RASL10A RFPL1 AP1B1 EMID1 MIR3653 GAS2L1 SNORD125 EWSR1 RHBDD3
nsv829154	Chr.22:29221496 - 29328012 on Build GRCh38	Gain	RASL10A AP1B1 EMID1 GAS2L1 EWSR1 RHBDD3
nsv829155	Chr.22:29268407 - 29328012 on Build GRCh38	Loss	RASL10A AP1B1 GAS2L1 EWSR1

More Information

Additional Information:

For this assay, SNP(s) [rs74438268] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

RNA metabolism protein

Gene Ontology Categories:

Process(es)

transcription, DNA-templated
regulation of transcription, DNA-templated

Function(s)

nucleotide binding
RNA binding
protein binding
calmodulin binding
zinc ion binding
identical protein binding
poly(A) RNA binding