Hs01474767_cn

• Gene Symbol: SEPN1
• Assay Reference Genome Location: Chr.1:25812703 on build GRCh38
• Cytoband: 1p36.11

Target Gene Details

• Entrez Gene ID: 57190
• Gene Name: selenoprotein N, 1
• Gene Aliases: CFTD, MDRS1, RSMD1, RSS, SELN
• Location: Chr.1:25800176-25818222 on Build GRCh38
• Assay Gene Location: Overlaps Intron 9 - Exon 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SEPN1	NM_020451.2			NP_065184.2
	NM_206926.1			NP_996809.1
	AF166125.1			AAF21430.1
	AJ306399.1			CAC83791.1
	AK308457.1
	BC015638.2			AAH15638.1
	BC042154.2			AAH42154.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv7490	Chr.1:25797857 - 25843537 on Build GRCh38	Deletion	MTFR1L SEPN1 AUNIP LOC646471
nsv460884	Chr.1:25778482 - 25891593 on Build GRCh38	Loss	MTFR1L MAN1C1 SEPN1 PAQR7 AUNIP STMN1 LOC646471
nsv834491	Chr.1:25726411 - 25914117 on Build GRCh38	Loss	MTFR1L MIR3917 MAN1C1 SEPN1 PAQR7 AUNIP STMN1 LOC646471
nsv950337	Chr.1:25800110 - 25819709 on Build GRCh38	Deletion	SEPN1

More Information

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

Gene Ontology Categories:

Process(es)

respiratory system process
mitochondrion organization
biological_process
skeletal muscle satellite cell differentiation
positive regulation of skeletal muscle cell proliferation
response to muscle activity involved in regulation of muscle adaptation
multicellular organismal response to stress
cellular response to oxidative stress
skeletal muscle tissue regeneration
lung alveolus development
skeletal muscle fiber development
calcium ion homeostasis
oxidation-reduction process
regulation of ryanodine-sensitive calcium-release channel activity
cellular response to caffeine
positive regulation of response to oxidative stress

Function(s)

molecular_function
calcium ion binding
protein binding
oxidoreductase activity