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
dgv327n100	Chr.1:146028214 - 148860637 on Build GRCh38	Gain	NBPF10 RNVU1-3 PDE4DIP MIR5087 LOC100996763 LINC01138 HYDIN2 PDZK1P1 LOC105371242 LOC100505824 NOTCH2NL LOC101927468 LOC100132057 RNVU1-8 NUDT4P2 LOC101928979 LOC284561 NBPF11 RNVU1-1 NBPF14 LOC728989 RNVU1-7 GJA8 NBPF12 RNU1-13P NUDT4P1 ACP6 FMO5 LOC105371226 GPR89B LINC00624 RNVU1-6 NBPF13P PPIAL4G LOC100996517 GJA5 MIR6077 CH17-408M7.1 CHD1L PRKAB2 PDIA3P1 BCL9
nsv1005055	Chr.1:145642988 - 148991068 on Build GRCh38	Loss	TXNIP PDE4DIP LOC100996763 LINC01138 MIR6736 NUDT4P2 HFE2 LOC101928979 LOC284561 POLR3GL GNRHR2 RNVU1-1 LOC728989 ANKRD34A NBPF12 RNU1-13P NUDT4P1 ACP6 LOC105371226 LIX1L GPR89B LINC00624 RNVU1-6 NBPF13P MIR6077 CHD1L PDIA3P1 BCL9 NBPF10 ITGA10 RNVU1-3 MIR5087 ANKRD35 HYDIN2 PDZK1P1 PEX11B LOC105371242 LOC100505824 NOTCH2NL LOC101927468 LOC100132057 RNVU1-8 RNF115 GPR89A NBPF11 CD160 NUDT17 NBPF14 RNVU1-7 GJA8 FMO5 POLR3C RBM8A PPIAL4G LOC100996517 GJA5 CH17-408M7.1 PRKAB2 PIAS3 PDZK1
nsv1077657	Chr.1:147010816 - 147207577 on Build GRCh38	Deletion	NBPF13P LOC728989 RNVU1-8 CHD1L PRKAB2 FMO5 PDIA3P1
esv2761299	Chr.1:146068341 - 148926801 on Build GRCh38	Gain+Loss	NBPF10 RNVU1-3 PDE4DIP MIR5087 LOC100996763 LINC01138 HYDIN2 PDZK1P1 LOC105371242 LOC100505824 NOTCH2NL LOC101927468 LOC100132057 RNVU1-8 NUDT4P2 LOC284561 NBPF11 RNVU1-1 NBPF14 LOC728989 RNVU1-7 GJA8 NBPF12 RNU1-13P NUDT4P1 ACP6 FMO5 LOC105371226 GPR89B LINC00624 NBPF13P PPIAL4G LOC100996517 GJA5 MIR6077 CH17-408M7.1 CHD1L PRKAB2 PDIA3P1 BCL9
dgv67e199	Chr.1:147188956 - 147198583 on Build GRCh38	Deletion	CHD1L FMO5
nsv509457	Chr.1:145948024 - 149021821 on Build GRCh38	Insertion	TXNIP NBPF10 RNVU1-3 PDE4DIP MIR5087 LOC100996763 LINC01138 HYDIN2 PDZK1P1 LOC105371242 LOC100505824 NOTCH2NL LOC101927468 LOC100132057 RNVU1-8 NUDT4P2 HFE2 LOC101928979 LOC284561 NBPF11 POLR3GL RNVU1-1 NBPF14 LOC728989 RNVU1-7 GJA8 ANKRD34A NBPF12 RNU1-13P NUDT4P1 ACP6 FMO5 LOC105371226 LIX1L GPR89B LINC00624 RNVU1-6 NBPF13P PPIAL4G LOC100996517 GJA5 MIR6077 CH17-408M7.1 CHD1L PRKAB2 PDIA3P1 BCL9
nsv1132304	Chr.1:146186094 - 148977674 on Build GRCh38	Duplication	RNVU1-3 PDE4DIP MIR5087 LOC100996763 LINC01138 HYDIN2 PDZK1P1 LOC105371242 LOC100505824 NOTCH2NL LOC101927468 LOC100132057 RNVU1-8 NUDT4P2 LOC284561 NBPF11 RNVU1-1 NBPF14 LOC728989 RNVU1-7 GJA8 NBPF12 RNU1-13P NUDT4P1 ACP6 FMO5 LOC105371226 GPR89B LINC00624 NBPF13P PPIAL4G LOC100996517 GJA5 MIR6077 CH17-408M7.1 CHD1L PRKAB2 PDIA3P1 BCL9
nsv1003688	Chr.1:146036817 - 148934526 on Build GRCh38	Gain	NBPF10 RNVU1-3 PDE4DIP MIR5087 LOC100996763 LINC01138 HYDIN2 PDZK1P1 LOC105371242 LOC100505824 NOTCH2NL LOC101927468 LOC100132057 RNVU1-8 NUDT4P2 LOC101928979 LOC284561 NBPF11 RNVU1-1 NBPF14 LOC728989 RNVU1-7 GJA8 NBPF12 RNU1-13P NUDT4P1 ACP6 FMO5 LOC105371226 GPR89B LINC00624 RNVU1-6 NBPF13P PPIAL4G LOC100996517 GJA5 MIR6077 CH17-408M7.1 CHD1L PRKAB2 PDIA3P1 BCL9
dgv66e199	Chr.1:146055970 - 149056514 on Build GRCh38	Deletion	NBPF10 RNVU1-3 PDE4DIP MIR5087 LOC100996763 LINC01138 HYDIN2 PDZK1P1 LOC105371242 LOC100505824 NOTCH2NL LOC101927468 LOC100132057 RNVU1-8 NUDT4P2 LOC101928979 LOC284561 NBPF9 NBPF11 RNVU1-1 NBPF14 LOC728989 RNVU1-7 GJA8 NBPF12 RNU1-13P NUDT4P1 ACP6 FMO5 LOC105371226 GPR89B LINC00624 NBPF13P PPIAL4G LOC100996517 GJA5 MIR6077 CH17-408M7.1 CHD1L PRKAB2 PDIA3P1 BCL9
esv3587435	Chr.1:147189056 - 147198713 on Build GRCh38	Loss	CHD1L FMO5
nsv437047	Chr.1:147171976 - 147369886 on Build GRCh38	Loss	CHD1L PRKAB2 FMO5 PDIA3P1

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