Hs01228389_cn

• Gene Symbol: BSCL2
• Assay Reference Genome Location: Chr.11:62692748 on build GRCh38
• Cytoband: 11q12.3

Target Gene Details

• Entrez Gene ID: 26580
• Gene Name: BSCL2, seipin lipid droplet biogenesis associated
• Gene Aliases: GNG3LG, HMN5, PELD, SPG17
• Location: Chr.11:62690262-62709619 on Build GRCh38
• Assay Gene Location: Within Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BSCL2	NM_001122955.3	5	1192	NP_001116427.1
	NM_001130702.2	5	706	NP_001124174.2
	NM_032667.6	5	706	NP_116056.3
	NR_037948.1	6	1282
	NR_037949.1	6	1282
	AF052149.1	5	832
	AK027524.1	5	706	BAB55175.1
	AK075317.1	5	689	BAC11543.1
	AK223606.1	5	883	BAD97326.1
	AK225029.1	5	687
	AK315423.1	6	1199
	BC004911.2	5	685	AAH04911.1
	BC012140.1	5	676	AAH12140.1
	BC041640.1	5	658	AAH41640.1
	BC093048.1	5	741	AAH93048.1
	KU178595.1	4	488
	KU178596.1	3	406

Target Gene Details

• Entrez Gene ID: 100534595
• Gene Name: HNRNPUL2-BSCL2 readthrough (NMD candidate)
• Gene Aliases: -
• Location: Chr.11:62690262-62727384 on Build GRCh38
• Assay Gene Location: Within Exon 18

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HNRNPUL2-BSCL2	NR_037946.1	18	3200
	AK122942.1	18	3200

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv832182	Chr.11:62528103 - 62695376 on Build GRCh38	Gain+Loss	LRRN4CL GANAB INTS5 EML3 B3GAT3 LBHD1 MIR6747 SNORA57 AHNAK EEF1G ROM1 UQCC3 TUT1 BSCL2 METTL12 MTA2 HNRNPUL2-BSCL2 C11orf98 UBXN1
nsv555174	Chr.11:62566624 - 62729047 on Build GRCh38	Gain	LRRN4CL GNG3 GANAB INTS5 TTC9C EML3 B3GAT3 LBHD1 MIR6747 SNORA57 HNRNPUL2 EEF1G ROM1 UQCC3 TUT1 BSCL2 METTL12 MTA2 HNRNPUL2-BSCL2 C11orf98 UBXN1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

lipid catabolic process
lipid storage
lipid particle organization
fat cell differentiation
negative regulation of lipid catabolic process

Function(s)

molecular_function
protein binding