Hs05560323_cn

• Gene Symbol: BCL2L13
• Assay Reference Genome Location: Chr.22:17659737 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 3

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
	NR_073068.1
	NR_073069.1
	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
	AF325209.1			AAK27358.1
	AF539453.1			AAN10130.1
	AK056248.1
	AK291449.1
	AK294286.1
	AK314489.1
	AL831982.2			CAD89976.1
	BC007658.2			AAH07658.1
	BE900458.1
	BI560132.1
	BX354578.2
	BX407004.2
	CN420914.1
	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
nsv588106	Chr.22:17659162 - 17662058 on Build GRCh38	Gain	BCL2L13
esv2673622	Chr.22:17657329 - 17662076 on Build GRCh38	Deletion	BCL2L13
nsv588107	Chr.22:17659737 - 17661069 on Build GRCh38	Loss	BCL2L13
esv3893429	Chr.22:17600825 - 17678777 on Build GRCh38	Gain	BCL2L13 ATP6V1E1
esv3893428	Chr.22:17578563 - 18040448 on Build GRCh38	Loss	MICAL3 BCL2L13 MIR3198-1 SLC25A18 FLJ41941 ATP6V1E1 MIR648 LINC00528 LOC101929372 BID
nsv428385	Chr.22:17491941 - 18886703 on Build GRCh38	Gain+Loss	MICAL3 MIR3198-1 FLJ41941 ATP6V1E1 MIR648 LOC642643 PI4KAP1 PEX26 LOC729461 TMEM191B LOC100996432 USP18 LOC101929372 GGT3P RIMBP3 LOC100996415 LINC00528 FAM230A LOC100996401 CECR2 BCL2L13 LOC102725072 SLC25A18 TUBA8 BID
esv1008890	Chr.22:17657148 - 17667590 on Build GRCh38	Deletion	BCL2L13
esv3647231	Chr.22:17658930 - 17661862 on Build GRCh38	Loss	BCL2L13
nsv828929	Chr.22:17658015 - 17662018 on Build GRCh38	Gain	BCL2L13
nsv9871	Chr.22:17545048 - 17683541 on Build GRCh38	Loss	BCL2L13 SLC25A18 ATP6V1E1 LOC101929372 CECR2
nsv526826	Chr.22:17411511 - 17836413 on Build GRCh38	Gain	MICAL3 BCL2L13 MIR3198-1 SLC25A18 ATP6V1E1 LINC00528 LOC101929372 BID CECR2
dgv4465n100	Chr.22:17577691 - 17706530 on Build GRCh38	Gain	BCL2L13 SLC25A18 ATP6V1E1 LOC101929372
nsv1146118	Chr.22:17658929 - 17661865 on Build GRCh38	Deletion	BCL2L13
esv3557908	Chr.22:17658735 - 17662050 on Build GRCh38	Deletion	BCL2L13
esv28002	Chr.22:17658736 - 17661690 on Build GRCh38	Loss	BCL2L13

More Information

Additional Information:

For this assay, SNP(s) [rs143728189] 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