Hs05575377_cn

• Gene Symbol: BCL2L13
• Assay Reference Genome Location: Chr.22:17648217 on build GRCh38
• Cytoband: 22q11.21

Target Gene Details

• Entrez Gene ID: 23786
• Gene Name: BCL2 like 13
• Gene Aliases: BCL-RAMBO, Bcl2-L-13, MIL1
• Location: Chr.22:17628855-17730855 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BCL2L13	NM_001270726.1			NP_001257655.1
	NM_001270727.1			NP_001257656.1
	NM_001270728.1			NP_001257657.1
	NM_001270729.1			NP_001257658.1
	NM_001270730.1			NP_001257659.1
	NM_001270731.1			NP_001257660.1
	NM_001270732.1			NP_001257661.1
	NM_001270734.1			NP_001257663.1
	NM_001270735.1			NP_001257664.1
	NM_015367.3			NP_056182.2
	XM_011546119.1			XP_011544421.1
	XM_011546120.1			XP_011544422.1
	XM_011546121.2			XP_011544423.1
	XM_011546123.1			XP_011544425.1
	XM_017028725.1			XP_016884214.1
	XM_017028726.1			XP_016884215.1
	XM_017028727.1			XP_016884216.1
	XM_017028728.1			XP_016884217.1
	XM_017028729.1			XP_016884218.1
	XM_017028730.1			XP_016884219.1
	XM_017028731.1			XP_016884220.1
	XM_017028732.1			XP_016884221.1
	XM_017028733.1			XP_016884222.1
	XM_017028734.1			XP_016884223.1
	AF246665.1			AAK15150.1
	AK056248.1
	AK291449.1
	AK294286.1
	AK314489.1
	AL831982.2			CAD89976.1
	BC007658.2			AAH07658.1
	BE900458.1
	BI560132.1
	BX354578.2
	BX407004.2
	CR456521.1			CAG30407.1
	DA154984.1
	DA169152.1
	DA478149.1
	DA799358.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv9871	Chr.22:17545048 - 17683541 on Build GRCh38	Loss	ATP6V1E1 LOC101929372 SLC25A18 BCL2L13 CECR2
nsv526826	Chr.22:17411511 - 17836413 on Build GRCh38	Gain	ATP6V1E1 MIR3198-1 LOC101929372 MICAL3 SLC25A18 LINC00528 BCL2L13 BID CECR2
esv3893428	Chr.22:17578563 - 18040448 on Build GRCh38	Loss	ATP6V1E1 MIR3198-1 LOC101929372 MICAL3 MIR648 SLC25A18 LINC00528 BCL2L13 BID FLJ41941
esv3893429	Chr.22:17600825 - 17678777 on Build GRCh38	Gain	ATP6V1E1 BCL2L13
dgv4465n100	Chr.22:17577691 - 17706530 on Build GRCh38	Gain	ATP6V1E1 LOC101929372 SLC25A18 BCL2L13
nsv428385	Chr.22:17491941 - 18886703 on Build GRCh38	Gain+Loss	MIR3198-1 RIMBP3 TMEM191B LINC00528 BID LOC100996432 LOC102725072 LOC729461 LOC100996415 LOC642643 FLJ41941 ATP6V1E1 USP18 MICAL3 BCL2L13 GGT3P FAM230A TUBA8 PEX26 LOC101929372 MIR648 SLC25A18 PI4KAP1 LOC100996401 CECR2

More Information

Additional Information:

For this assay, SNP(s) [rs73376764] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Gene Ontology Categories:

Process(es)

apoptotic process
activation of cysteine-type endopeptidase activity involved in apoptotic process

Function(s)

protein binding
cysteine-type endopeptidase activator activity involved in apoptotic process