Hs04774771_cn

• Gene Symbol: SHISA5
• Assay Reference Genome Location: Chr.3:48504375 on build GRCh38
• Cytoband: 3p21.31

Target Gene Details

• Entrez Gene ID: 51246
• Gene Name: shisa family member 5
• Gene Aliases: SCOTIN
• Location: Chr.3:48467798-48504826 on Build GRCh38
• Assay Gene Location: Overlaps Intron 1 - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SHISA5	NM_001272066.1			NP_001258995.1
	NM_001272067.1			NP_001258996.1
	XM_005265205.1			XP_005265262.1
	AK056328.1			BAB71152.1
	BX344125.2
	DA020280.1
	DA025113.1
	DA045437.1
	DA657994.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv834684	Chr.3:48344209 - 48551890 on Build GRCh38	Gain	PLXNB1 PFKFB4 CCDC51 ATRIP TMA7 FBXW12 MIR6823 TREX1 SHISA5
nsv523981	Chr.3:48478880 - 48683607 on Build GRCh38	Loss	UQCRC1 CELSR3-AS1 MIR6823 TMEM89 NCKIPSD SNORA94 MIR6824 CELSR3 SHISA5 SLC26A6 PFKFB4 MIR4793 COL7A1 UCN2 MIR711
nsv590242	Chr.3:48392157 - 48518906 on Build GRCh38	Loss	PLXNB1 PFKFB4 CCDC51 ATRIP TMA7 FBXW12 TREX1 SHISA5

More Information

Additional Information:

For this assay, SNP(s) [rs146502075] 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, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

scaffold/adaptor protein

Gene Ontology Categories:

Process(es)

intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator
positive regulation of I-kappaB kinase/NF-kappaB signaling

Function(s)

signal transducer activity
protein binding