Hs05558624_cn

• Gene Symbol: ADSL
• Assay Reference Genome Location: Chr.22:40373529 on build GRCh38
• Cytoband: 22q13.1

Target Gene Details

• Entrez Gene ID: 158
• Gene Name: adenylosuccinate lyase
• Gene Aliases: AMPS, ASASE, ASL
• Location: Chr.22:40346500-40387408 on Build GRCh38
• Assay Gene Location: Within Intron 14

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ADSL	XM_011529979.1			XP_011528281.1

Target Gene Details

• Entrez Gene ID: 27352
• Gene Name: small G protein signaling modulator 3
• Gene Aliases: MAP, RABGAP5, RUSC3, RUTBC3, RabGAP-5, rabGAPLP
• Location: Chr.22:40370530-40410289 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SGSM3	NM_001301849.1			NP_001288778.1
	NM_015705.5			NP_056520.2
	XM_005261572.2			XP_005261629.1
	XM_005261573.3			XP_005261630.1
	XM_005261574.4			XP_005261631.1
	XM_005261575.1			XP_005261632.1
	XM_011530158.1			XP_011528460.1
	XM_011530159.1			XP_011528461.1
	XM_011530160.1			XP_011528462.1
	XM_011530161.1			XP_011528463.1
	XM_011530162.2			XP_011528464.1
	XM_017028775.1			XP_016884264.1
	XM_017028776.1			XP_016884265.1
	XM_017028777.1			XP_016884266.1
	XM_017028778.1			XP_016884267.1
	XM_017028779.1			XP_016884268.1
	XM_017028780.1			XP_016884269.1
	AK295469.1
	AK297599.1
	AK301042.1
	AK309400.1
	AY308849.1			AAQ81879.1
	BC008078.2			AAH08078.1
	BP283990.1
	BU585020.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv834202	Chr.22:40179762 - 40385241 on Build GRCh38	Loss	TNRC6B SGSM3 ADSL

More Information

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

Panther Classification:

Molecular Function -

lyase, GTPase-activating protein

Gene Ontology Categories:

Process(es)

purine nucleotide biosynthetic process
AMP biosynthetic process
'de novo' IMP biosynthetic process
purine ribonucleoside monophosphate biosynthetic process
'de novo' AMP biosynthetic process
protein tetramerization
intracellular protein transport
cell cycle arrest
regulation of vesicle fusion
regulation of Rab protein signal transduction
Rap protein signal transduction
plasma membrane to endosome transport
activation of GTPase activity
regulation of cilium assembly

Function(s)

N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity
(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity
GTPase activator activity
protein binding
Rab GTPase binding