Hs01996829_cn

• Gene Symbol: ARSG
• Assay Reference Genome Location: Chr.17:68428832 on build GRCh38
• Cytoband: 17q24.2

Target Gene Details

• Entrez Gene ID: 22901
• Gene Name: arylsulfatase G
• Gene Aliases: -
• Location: Chr.17:68259089-68452000 on Build GRCh38
• Assay Gene Location: Within Exon 19

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ARSG	XM_005257170.3	13	2626	XP_005257227.1
	XM_006721777.3			XP_006721840.2
	XM_011524538.2	14	2721	XP_011522840.1
	XM_011524541.2			XP_011522843.1
	XM_011524542.2			XP_011522844.1
	XM_011524543.2			XP_011522845.1
	XM_011524544.2			XP_011522846.1
	XM_017024361.1			XP_016879850.1
	XM_017024364.1	13	2467	XP_016879853.1
	XM_017024365.1	13	2455	XP_016879854.1
	XM_017024366.1			XP_016879855.1
	XM_017024367.1			XP_016879856.1

Target Gene Details

• Entrez Gene ID: 5573
• Gene Name: protein kinase cAMP-dependent type I regulatory subunit alpha
• Gene Aliases: ACRDYS1, ADOHR, CAR, CNC, CNC1, PKR1, PPNAD1, PRKAR1, TSE1
• Location: Chr.17:68413623-68551316 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PRKAR1A	NM_001278433.1			NP_001265362.1
	DA108801.1

Target Gene Details

• Entrez Gene ID: 55062
• Gene Name: WD repeat domain, phosphoinositide interacting 1
• Gene Aliases: ATG18, ATG18A, WIPI49
• Location: Chr.17:68421281-68457524 on Build GRCh38
• Assay Gene Location: Overlaps Intron 11 - Exon 11

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
WIPI1	NM_001320772.1			NP_001307701.1
	NM_017983.6			NP_060453.3
	NR_135470.1
	NR_135471.1
	XM_017024808.1			XP_016880297.1
	AK000917.1			BAA91423.1
	AK301830.1
	AY691424.1			AAV80760.1
	BC039867.2			AAH39867.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833523	Chr.17:68347182 - 68514320 on Build GRCh38	Gain	PRKAR1A ARSG WIPI1 MIR635

More Information

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

Panther Classification:

Molecular Function -

hydrolase, protein-binding activity modulator, kinase modulator

Gene Ontology Categories:

Process(es)

glycosphingolipid metabolic process
sulfur compound metabolic process
post-translational protein modification
mesoderm formation
renal water homeostasis
regulation of transcription from RNA polymerase II promoter
female meiotic division
blood coagulation
activation of protein kinase A activity
intracellular signal transduction
sarcomere organization
negative regulation of meiotic nuclear division
negative regulation of activated T cell proliferation
cardiac muscle cell proliferation
cellular response to glucagon stimulus
negative regulation of cAMP-dependent protein kinase activity
autophagosome assembly
mitophagy
protein lipidation
autophagy
macroautophagy
protein localization to pre-autophagosomal structure
IRE1-mediated unfolded protein response
nucleophagy
vesicle targeting, trans-Golgi to endosome

Function(s)

arylsulfatase activity
metal ion binding
cAMP-dependent protein kinase inhibitor activity
protein binding
cAMP-dependent protein kinase regulator activity
cAMP binding
ubiquitin protein ligase binding
protein kinase A catalytic subunit binding
receptor binding
estrogen receptor binding
phosphatidylinositol-3-phosphate binding
androgen receptor binding
phosphatidylinositol-3,5-bisphosphate binding