Hs02385409_cn

• Gene Symbol: ADAMTS13
• Assay Reference Genome Location: Chr.9:133418033 on build GRCh38
• Cytoband: 9q34.2

Target Gene Details

• Entrez Gene ID: 11093
• Gene Name: ADAM metallopeptidase with thrombospondin type 1 motif 13
• Gene Aliases: ADAM-TS13, ADAMTS-13, C9orf8, VWFCP, vWF-CP
• Location: Chr.9:133414339-133459403 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ADAMTS13	NR_024514.2
	DB069518.1

Target Gene Details

• Entrez Gene ID: 57109
• Gene Name: REX4 homolog, 3'-5' exonuclease
• Gene Aliases: REX4, XPMC2, XPMC2H
• Location: Chr.9:133406058-133418172 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
REXO4	NM_001279349.1	1	64	NP_001266278.1
	NM_001279350.1	1	64	NP_001266279.1
	NM_001279351.1			NP_001266280.1
	NM_020385.3	1	64	NP_065118.2
	NR_103995.1	1	64
	NR_103996.1	1	64
	AF273304.1			AAF98162.1
	AF295774.1			AAG02123.1
	AK295982.1
	AK304547.1
	AK310164.1
	AK314333.1
	AK315904.1
	AL136894.1			CAB66828.1
	BC009274.2			AAH09274.1
	DC387839.1	1	64

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2739138	Chr.9:132727483 - 135521553 on Build GRCh38	Deletion	GBGT1 MIR3689D1 STKLD1 RXRA PPP1R26 FAM163B TMEM8C MED22 OBP2B LOC100130548 SNORD141A LOC401557 SURF4 RPL7A FCN2 VAV2 CELP LCN1 LOC101448202 SPACA9 LOC101928525 SURF2 SNORD36A MIR3689E TSC1 COL5A1 GTF3C5 SARDH DBH-AS1 MIR3689A SURF1 MIR3689F SLC2A6 MIR3689B BRD3 MIR3689D2 SNORD36B ABO WDR5 C9orf62 LINC00094 CACFD1 ADAMTSL2 LOC101928193 MIR548AW PPP1R26-AS1 C9orf116 FCN1 MIR3689C AK8 RNU6ATAC DBH CEL MIR4669 COL5A1-AS1 LOC100996574 MRPS2 SNORD36C RALGDS GFI1B MIR6877 OLFM1 LOC105376306 SURF6 REXO4 SNORD24 ADAMTS13

More Information

Additional Information:

For this assay, SNP(s) [rs185304750] 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, Exonic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

exoribonuclease

Gene Ontology Categories:

Process(es)

proteolysis
cell-matrix adhesion
integrin-mediated signaling pathway
glycoprotein metabolic process
response to toxic substance
protein processing
platelet activation
response to interferon-gamma
response to tumor necrosis factor
protein O-linked fucosylation
peptide catabolic process
response to interleukin-4
regulation of transcription, DNA-templated
nucleic acid phosphodiester bond hydrolysis

Function(s)

metalloendopeptidase activity
integrin binding
calcium ion binding
protein binding
metallopeptidase activity
zinc ion binding
transcription factor activity, sequence-specific DNA binding
exonuclease activity
poly(A) RNA binding