Hs03350665_cn

• Gene Symbol: CHD1L
• Assay Reference Genome Location: Chr.1:147195614 on build GRCh38
• Cytoband: 1q21.1

Target Gene Details

• Entrez Gene ID: 9557
• Gene Name: chromodomain helicase DNA binding protein 1 like
• Gene Aliases: ALC1, CHDL
• Location: Chr.1:147172804-147295766 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CHD1L	XM_017002858.1			XP_016858347.1

Target Gene Details

• Entrez Gene ID: 2330
• Gene Name: flavin containing monooxygenase 5
• Gene Aliases: -
• Location: Chr.1:147183963-147225798 on Build GRCh38
• Assay Gene Location: Within Intron 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
FMO5	NM_001144829.2			NP_001138301.1
	NM_001144830.2			NP_001138302.1
	NM_001461.3			NP_001452.2
	XM_005272946.4			XP_005273003.1
	XM_005272947.4			XP_005273004.1
	XM_005272948.4			XP_005273005.1
	XM_006711245.3			XP_006711308.1
	XM_011509350.2			XP_011507652.1
	XM_011509351.2			XP_011507653.1
	XM_017000801.1			XP_016856290.1
	XM_017000802.1			XP_016856291.1
	AK222728.1			BAD96448.1
	AK225739.1
	AK314647.1
	BC035687.1			AAH35687.1
	L37080.1			AAA67849.1
	Z47553.1			CAA87633.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1005055	Chr.1:145642988 - 148991068 on Build GRCh38	Loss	NUDT4P2 CHD1L RNF115 PDIA3P1 NBPF13P RNVU1-3 LOC101928979 PEX11B MIR6736 TXNIP ACP6 LOC101927468 RNVU1-7 HYDIN2 LOC728989 GNRHR2 LIX1L LINC00624 RNU1-13P GJA5 NBPF12 PDE4DIP LINC01138 NBPF10 RNVU1-8 LOC105371226 MIR5087 GPR89B RNVU1-1 FMO5 LOC284561 NBPF11 MIR6077 HFE2 NOTCH2NL LOC105371242 LOC100996517 ANKRD34A LOC100505824 NUDT4P1 NBPF14 POLR3GL GPR89A CD160 PPIAL4G PRKAB2 LOC100132057 GJA8 PIAS3 ITGA10 BCL9 ANKRD35 LOC100996763 CH17-408M7.1 POLR3C NUDT17 PDZK1 PDZK1P1 RBM8A RNVU1-6
dgv327n100	Chr.1:146028214 - 148860637 on Build GRCh38	Gain	NUDT4P2 RNVU1-1 FMO5 LOC284561 NBPF11 MIR6077 NOTCH2NL CHD1L PDIA3P1 NBPF13P RNVU1-3 LOC105371242 LOC100996517 LOC100505824 LOC101928979 NUDT4P1 ACP6 LOC101927468 NBPF14 RNVU1-7 HYDIN2 LOC728989 PPIAL4G PRKAB2 LOC100132057 LINC00624 GJA8 RNU1-13P BCL9 GJA5 NBPF12 PDE4DIP LINC01138 NBPF10 RNVU1-8 LOC100996763 LOC105371226 CH17-408M7.1 MIR5087 GPR89B PDZK1P1 RNVU1-6
nsv1121713	Chr.1:147010816 - 147207577 on Build GRCh38	Deletion	FMO5 PRKAB2 CHD1L PDIA3P1 NBPF13P RNVU1-8 LOC728989
dgv67e199	Chr.1:147188956 - 147198583 on Build GRCh38	Deletion	FMO5 CHD1L
esv2761299	Chr.1:146068341 - 148926801 on Build GRCh38	Gain+Loss	NUDT4P2 RNVU1-1 FMO5 LOC284561 NBPF11 MIR6077 NOTCH2NL CHD1L PDIA3P1 NBPF13P RNVU1-3 LOC105371242 LOC100996517 LOC100505824 NUDT4P1 ACP6 LOC101927468 NBPF14 RNVU1-7 HYDIN2 LOC728989 PPIAL4G PRKAB2 LOC100132057 LINC00624 GJA8 RNU1-13P BCL9 GJA5 NBPF12 PDE4DIP LINC01138 NBPF10 RNVU1-8 LOC100996763 LOC105371226 CH17-408M7.1 MIR5087 GPR89B PDZK1P1
nsv509457	Chr.1:145948024 - 149021821 on Build GRCh38	Insertion	NUDT4P2 RNVU1-1 FMO5 LOC284561 NBPF11 MIR6077 HFE2 NOTCH2NL CHD1L PDIA3P1 NBPF13P RNVU1-3 LOC105371242 LOC100996517 ANKRD34A LOC100505824 LOC101928979 NUDT4P1 TXNIP ACP6 LOC101927468 NBPF14 RNVU1-7 POLR3GL HYDIN2 LOC728989 PPIAL4G PRKAB2 LIX1L LOC100132057 LINC00624 GJA8 RNU1-13P BCL9 GJA5 NBPF12 PDE4DIP LINC01138 NBPF10 RNVU1-8 LOC100996763 LOC105371226 CH17-408M7.1 MIR5087 GPR89B PDZK1P1 RNVU1-6
nsv1132304	Chr.1:146186094 - 148977674 on Build GRCh38	Duplication	NUDT4P2 RNVU1-1 FMO5 LOC284561 NBPF11 MIR6077 NOTCH2NL CHD1L PDIA3P1 NBPF13P RNVU1-3 LOC105371242 LOC100996517 LOC100505824 NUDT4P1 ACP6 LOC101927468 NBPF14 RNVU1-7 HYDIN2 LOC728989 PPIAL4G PRKAB2 LOC100132057 LINC00624 GJA8 RNU1-13P BCL9 GJA5 NBPF12 PDE4DIP LINC01138 RNVU1-8 LOC100996763 LOC105371226 CH17-408M7.1 MIR5087 GPR89B PDZK1P1
nsv1003688	Chr.1:146036817 - 148934526 on Build GRCh38	Gain	NUDT4P2 RNVU1-1 FMO5 LOC284561 NBPF11 MIR6077 NOTCH2NL CHD1L PDIA3P1 NBPF13P RNVU1-3 LOC105371242 LOC100996517 LOC100505824 LOC101928979 NUDT4P1 ACP6 LOC101927468 NBPF14 RNVU1-7 HYDIN2 LOC728989 PPIAL4G PRKAB2 LOC100132057 LINC00624 GJA8 RNU1-13P BCL9 GJA5 NBPF12 PDE4DIP LINC01138 NBPF10 RNVU1-8 LOC100996763 LOC105371226 CH17-408M7.1 MIR5087 GPR89B PDZK1P1 RNVU1-6
dgv66e199	Chr.1:146055970 - 149056514 on Build GRCh38	Deletion	NUDT4P2 RNVU1-1 FMO5 LOC284561 NBPF9 NBPF11 MIR6077 NOTCH2NL CHD1L PDIA3P1 NBPF13P RNVU1-3 LOC105371242 LOC100996517 LOC100505824 LOC101928979 NUDT4P1 ACP6 LOC101927468 NBPF14 RNVU1-7 HYDIN2 LOC728989 PPIAL4G PRKAB2 LOC100132057 LINC00624 GJA8 RNU1-13P BCL9 GJA5 NBPF12 PDE4DIP LINC01138 NBPF10 RNVU1-8 LOC100996763 LOC105371226 CH17-408M7.1 MIR5087 GPR89B PDZK1P1
nsv437047	Chr.1:147171976 - 147369886 on Build GRCh38	Loss	FMO5 PRKAB2 CHD1L PDIA3P1
esv3587435	Chr.1:147189056 - 147198713 on Build GRCh38	Loss	FMO5 CHD1L

More Information

Additional Information:

For this assay, SNP(s) [rs72708573] 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

Panther Classification:

Molecular Function -

oxidoreductase, oxygenase, metabolite interconversion enzyme

Gene Ontology Categories:

Process(es)

nucleotide-excision repair, DNA duplex unwinding
DNA repair
nucleotide-excision repair, preincision complex stabilization
nucleotide-excision repair, preincision complex assembly
nucleotide-excision repair, DNA incision, 3'-to lesion
nucleotide-excision repair, DNA incision, 5'-to lesion
chromatin remodeling
cellular response to DNA damage stimulus
nucleotide-excision repair, DNA incision
global genome nucleotide-excision repair
biological_process
drug metabolic process
oxidation-reduction process

Function(s)

nucleotide binding
nucleic acid binding
ATP-dependent DNA helicase activity
protein binding
ATP binding
ATPase activity
N,N-dimethylaniline monooxygenase activity
flavin adenine dinucleotide binding
NADP binding