Hs01287834_cn

• Gene Symbol: LRBA
• Assay Reference Genome Location: Chr.4:150584303 on build GRCh38
• Cytoband: 4q31.3

Target Gene Details

• Entrez Gene ID: 987
• Gene Name: LPS responsive beige-like anchor protein
• Gene Aliases: BGL, CDC4L, CVID8, LAB300, LBA
• Location: Chr.4:150264515-151015725 on Build GRCh38
• Assay Gene Location: Within Intron 42

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LRBA	NM_001199282.2			NP_001186211.2
	NM_006726.4			NP_006717.2
	XM_005263372.3			XP_005263429.1
	XM_005263373.2			XP_005263430.1
	XM_005263374.3			XP_005263431.1
	XM_005263375.3			XP_005263432.1
	XM_011532434.2			XP_011530736.1
	XM_017008872.1			XP_016864361.1
	AB208838.1			BAD92075.1
	AF216648.2			AAG48558.2
	AF467287.1			AAM53530.1
	AK122920.1
	M83822.1			AAB09603.1

Target Gene Details

• Entrez Gene ID: 10586
• Gene Name: mab-21 like 2
• Gene Aliases: MCOPS14
• Location: Chr.4:150581925-150584693 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MAB21L2	NM_006439.4	1	2379	NP_006430.1
	AF262032.1	1	2029	AAG09800.1
	AK055665.1	1	2153
	BC009983.2	1	1877	AAH09983.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1024820	Chr.4:150442926 - 151022409 on Build GRCh38	Gain	MAB21L2 LOC729558 LRBA
nsv4547	Chr.4:150565128 - 150610327 on Build GRCh38	Deletion	MAB21L2 LOC729558 LRBA

More Information

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

Gene Ontology Categories:

Process(es)

biological_process
eye development
nervous system development
positive regulation of cell proliferation
embryonic body morphogenesis
camera-type eye development

Function(s)

molecular_function
protein binding