Hs03371151_cn

• Gene Symbol: CHD1L
• Assay Reference Genome Location: Chr.1:147199376 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	LOC100996763 BCL9 LOC105371242 LOC100996517 GJA5 CHD1L RNVU1-1 PDIA3P1 LOC101928979 RNVU1-8 RNVU1-7 PDE4DIP RNU1-13P RNVU1-3 MIR6077 MIR5087 PPIAL4G LOC101927468 LOC105371226 NUDT4P2 NBPF10 GJA8 NBPF13P NBPF11 NUDT4P1 LOC100505824 PRKAB2 LINC00624 LOC728989 NOTCH2NL GPR89B LOC100132057 ACP6 PDZK1P1 LINC01138 FMO5 HYDIN2 NBPF12 RNVU1-6 CH17-408M7.1 LOC284561 NBPF14
nsv1005055	Chr.1:145642988 - 148991068 on Build GRCh38	Loss	LOC100996763 RNVU1-1 LOC101928979 RNVU1-7 PDE4DIP RNF115 HFE2 RNU1-13P MIR5087 POLR3GL LOC105371226 CD160 PEX11B NBPF10 GJA8 NBPF13P NBPF11 NUDT4P1 LOC100505824 TXNIP PRKAB2 LIX1L LOC728989 NOTCH2NL GPR89B GNRHR2 PDZK1P1 LINC01138 HYDIN2 RNVU1-6 NBPF14 NUDT17 GPR89A BCL9 LOC105371242 LOC100996517 GJA5 CHD1L PDIA3P1 RNVU1-8 RNVU1-3 MIR6077 PPIAL4G ANKRD35 LOC101927468 ITGA10 MIR6736 NUDT4P2 LINC00624 LOC100132057 ACP6 RBM8A ANKRD34A FMO5 NBPF12 CH17-408M7.1 LOC284561 POLR3C PIAS3 PDZK1
nsv1121713	Chr.1:147010816 - 147207577 on Build GRCh38	Deletion	FMO5 CHD1L LOC728989 PDIA3P1 RNVU1-8 NBPF13P PRKAB2
esv2761299	Chr.1:146068341 - 148926801 on Build GRCh38	Gain+Loss	LOC100996763 BCL9 LOC105371242 LOC100996517 GJA5 CHD1L RNVU1-1 PDIA3P1 RNVU1-8 RNVU1-7 PDE4DIP RNU1-13P RNVU1-3 MIR6077 MIR5087 PPIAL4G LOC101927468 LOC105371226 NUDT4P2 NBPF10 GJA8 NBPF13P NBPF11 NUDT4P1 LOC100505824 PRKAB2 LINC00624 LOC728989 NOTCH2NL GPR89B LOC100132057 ACP6 PDZK1P1 LINC01138 FMO5 HYDIN2 NBPF12 CH17-408M7.1 LOC284561 NBPF14
nsv509457	Chr.1:145948024 - 149021821 on Build GRCh38	Insertion	LOC100996763 BCL9 LOC105371242 LOC100996517 GJA5 CHD1L RNVU1-1 PDIA3P1 LOC101928979 RNVU1-8 RNVU1-7 PDE4DIP HFE2 RNU1-13P RNVU1-3 MIR6077 MIR5087 POLR3GL PPIAL4G LOC101927468 LOC105371226 NUDT4P2 NBPF10 GJA8 NBPF13P NBPF11 NUDT4P1 LOC100505824 TXNIP PRKAB2 LIX1L LINC00624 LOC728989 NOTCH2NL GPR89B LOC100132057 ACP6 PDZK1P1 ANKRD34A LINC01138 FMO5 HYDIN2 NBPF12 RNVU1-6 CH17-408M7.1 LOC284561 NBPF14
nsv1132304	Chr.1:146186094 - 148977674 on Build GRCh38	Duplication	LOC100996763 BCL9 LOC105371242 LOC100996517 GJA5 CHD1L RNVU1-1 PDIA3P1 RNVU1-8 RNVU1-7 PDE4DIP RNU1-13P RNVU1-3 MIR6077 MIR5087 PPIAL4G LOC101927468 LOC105371226 NUDT4P2 GJA8 NBPF13P NBPF11 NUDT4P1 LOC100505824 PRKAB2 LINC00624 LOC728989 NOTCH2NL GPR89B LOC100132057 ACP6 PDZK1P1 LINC01138 FMO5 HYDIN2 NBPF12 CH17-408M7.1 LOC284561 NBPF14
nsv1003688	Chr.1:146036817 - 148934526 on Build GRCh38	Gain	LOC100996763 BCL9 LOC105371242 LOC100996517 GJA5 CHD1L RNVU1-1 PDIA3P1 LOC101928979 RNVU1-8 RNVU1-7 PDE4DIP RNU1-13P RNVU1-3 MIR6077 MIR5087 PPIAL4G LOC101927468 LOC105371226 NUDT4P2 NBPF10 GJA8 NBPF13P NBPF11 NUDT4P1 LOC100505824 PRKAB2 LINC00624 LOC728989 NOTCH2NL GPR89B LOC100132057 ACP6 PDZK1P1 LINC01138 FMO5 HYDIN2 NBPF12 RNVU1-6 CH17-408M7.1 LOC284561 NBPF14
dgv66e199	Chr.1:146055970 - 149056514 on Build GRCh38	Deletion	LOC100996763 BCL9 NBPF9 LOC105371242 LOC100996517 GJA5 CHD1L RNVU1-1 PDIA3P1 LOC101928979 RNVU1-8 RNVU1-7 PDE4DIP RNU1-13P RNVU1-3 MIR6077 MIR5087 PPIAL4G LOC101927468 LOC105371226 NUDT4P2 NBPF10 GJA8 NBPF13P NBPF11 NUDT4P1 LOC100505824 PRKAB2 LINC00624 LOC728989 NOTCH2NL GPR89B LOC100132057 ACP6 PDZK1P1 LINC01138 FMO5 HYDIN2 NBPF12 CH17-408M7.1 LOC284561 NBPF14
nsv437047	Chr.1:147171976 - 147369886 on Build GRCh38	Loss	FMO5 CHD1L PDIA3P1 PRKAB2

More Information

Additional Information:

For this assay, SNP(s) [rs72708586] 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