Hs02285916_cn

• Gene Symbol: ANGPTL1
• Assay Reference Genome Location: Chr.1:178865039 on build GRCh38
• Cytoband: 1q25.2

Target Gene Details

• Entrez Gene ID: 9068
• Gene Name: angiopoietin like 1
• Gene Aliases: ANG3, ANGPT3, ARP1, AngY, UNQ162, dJ595C2.2
• Location: Chr.1:178849535-178871353 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ANGPTL1	NM_004673.3	3	1214	NP_004664.1
	XM_005245577.2	2	1377	XP_005245634.1
	AB056476.1	3	1171	BAB40691.1
	AF107253.1	1	738	AAD19608.1
	AK223467.1	3	1079	BAD97187.1
	AK300218.1	3	853
	AY358278.1	3	1186	AAQ88645.1
	BC050640.1	2	1046	AAH50640.1

Target Gene Details

• Entrez Gene ID: 55103
• Gene Name: Ral GEF with PH domain and SH3 binding motif 2
• Gene Aliases: dJ595C2.1
• Location: Chr.1:178725147-178921842 on Build GRCh38
• Assay Gene Location: Within Intron 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RALGPS2	NM_001286247.1			NP_001273176.1
	NM_152663.4			NP_689876.2
	XM_006711410.3			XP_006711473.1
	XM_006711411.3			XP_006711474.1
	XM_011509688.1			XP_011507990.1
	XM_017001591.1			XP_016857080.1
	AK001106.1			BAA91506.1
	AK301753.1
	BC047391.1			AAH47391.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1005359	Chr.1:178848551 - 178898098 on Build GRCh38	Loss	RALGPS2 ANGPTL1
nsv525444	Chr.1:178693726 - 178918428 on Build GRCh38	Loss	RALGPS2 LOC646976 ANGPTL1
nsv3710	Chr.1:178851240 - 178889766 on Build GRCh38	Insertion	RALGPS2 ANGPTL1
nsv466206	Chr.1:178700536 - 178874759 on Build GRCh38	Gain	RALGPS2 LOC646976 ANGPTL1

More Information

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

Panther Classification:

Molecular Function -

intercellular signal molecule, guanyl-nucleotide exchange factor

Gene Ontology Categories:

Process(es)

transmembrane receptor protein tyrosine kinase signaling pathway
small GTPase mediated signal transduction
regulation of Ral protein signal transduction
positive regulation of GTPase activity

Function(s)

receptor binding
guanyl-nucleotide exchange factor activity