Hs04572650_cn

• Gene Symbol: LOC101927027
• Assay Reference Genome Location: Chr.2:178434640 on build GRCh38
• Cytoband: 2q31.2

Target Gene Details

• Entrez Gene ID: 101927027
• Gene Name: uncharacterized LOC101927027
• Gene Aliases: -
• Location: Chr.2:178413659-178440243 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LOC101927027	NR_110204.1
	AL520497.3
	BX371397.2
	BX538254.1

Target Gene Details

• Entrez Gene ID: 8575
• Gene Name: protein activator of interferon induced protein kinase EIF2AK2
• Gene Aliases: DYT16, HSD14, PACT, RAX
• Location: Chr.2:178431414-178451240 on Build GRCh38
• Assay Gene Location: Within Intron 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PRKRA	NM_001139517.1			NP_001132989.1
	NM_001139518.1			NP_001132990.1
	NM_001316362.1			NP_001303291.1
	NM_003690.4			NP_003681.1
	XM_011512063.1			XP_011510365.1
	XM_011512066.1			XP_011510368.1
	XM_017005159.1			XP_016860648.1
	AF072860.1			AAC25672.1
	AF083033.1			AAD33099.1
	AK093360.1
	AK223107.1			BAD96827.1
	AK290601.1
	AK296019.1
	AL136615.1			CAB66550.1
	AL833867.1			CAD38725.1
	AY251164.1			AAP20061.1
	BC009470.1			AAH09470.1
	BT007243.1			AAP35907.1
	CR533525.1			CAG38556.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv625e201	Chr.2:178432240 - 178441593 on Build GRCh38	Deletion	LOC101927027 PRKRA
esv2721190	Chr.2:178432187 - 178436139 on Build GRCh38	Deletion	LOC101927027 PRKRA
esv8989	Chr.2:178432002 - 178436300 on Build GRCh38	Loss	LOC101927027 PRKRA
esv3560606	Chr.2:178432202 - 178436171 on Build GRCh38	Deletion	LOC101927027 PRKRA
nsv834467	Chr.2:178393413 - 178566238 on Build GRCh38	Loss	TTN LOC101927027 OSBPL6 PRKRA DFNB59 TTN-AS1 FKBP7 PLEKHA3

More Information

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

Gene Ontology Categories:

Process(es)

protein phosphorylation
immune response
negative regulation of cell proliferation
response to virus
production of siRNA involved in RNA interference
gene silencing by RNA
pre-miRNA processing
cellular response to oxidative stress
production of miRNAs involved in gene silencing by miRNA
outer ear morphogenesis
middle ear morphogenesis
positive regulation of catalytic activity
skeletal system morphogenesis
positive regulation of intrinsic apoptotic signaling pathway

Function(s)

double-stranded RNA binding
protein binding
enzyme activator activity
enzyme binding
identical protein binding
protein homodimerization activity
poly(A) RNA binding