Hs00457540_cn

• Gene Symbol: C8orf44
• Assay Reference Genome Location: Chr.8:66680534 on build GRCh38
• Cytoband: 8q13.1

Target Gene Details

• Entrez Gene ID: 56260
• Gene Name: chromosome 8 open reading frame 44
• Gene Aliases: -
• Location: Chr.8:66667552-66681149 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
C8orf44	NM_019607.2	3	1277	NP_062553.1
	AK002129.1	4	1351	BAA92096.1
	BC014448.1	3	1211	AAH14448.1

Target Gene Details

• Entrez Gene ID: 100533105
• Gene Name: C8orf44-SGK3 readthrough
• Gene Aliases: -
• Location: Chr.8:66667552-66862022 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
C8orf44-SGK3	NM_001204173.1			NP_001191102.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv831346	Chr.8:66574320 - 66763089 on Build GRCh38	Loss	SGK3 C8orf44-SGK3 C8orf44 MYBL1 VCPIP1

More Information

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

Panther Classification:

Molecular Function -

non-receptor serine/threonine protein kinase

Gene Ontology Categories:

Process(es)

regulation of cell growth
protein phosphorylation
cellular sodium ion homeostasis
response to stress
positive regulation of sodium ion transport
peptidyl-serine phosphorylation
regulation of cell migration
positive regulation of transporter activity
ion transmembrane transport
intracellular signal transduction
regulation of cell proliferation
regulation of apoptotic process
regulation of sequence-specific DNA binding transcription factor activity

Function(s)

protein kinase activity
protein serine/threonine kinase activity
calcium channel regulator activity
protein binding
ATP binding
potassium channel regulator activity
sodium channel regulator activity
chloride channel regulator activity
phosphatidylinositol binding