Hs03338637_cn

• Gene Symbol: CHD1L
• Assay Reference Genome Location: Chr.1:147210503 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 5

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_006711244.3			XP_006711307.1
	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
	AK022172.1			BAB13975.1
	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	CH17-408M7.1 PIAS3 RNVU1-6 HFE2 GNRHR2 NBPF14 MIR6077 RNVU1-8 LOC100505824 CHD1L GJA8 PRKAB2 TXNIP POLR3GL NBPF11 LOC284561 GJA5 RNU1-13P NOTCH2NL ACP6 NBPF13P GPR89B LOC100132057 PDIA3P1 PEX11B RNVU1-7 PDZK1 PDZK1P1 LOC105371226 NUDT4P1 FMO5 RBM8A GPR89A LOC101928979 LOC101927468 LOC100996517 RNVU1-1 NUDT4P2 LIX1L LINC01138 HYDIN2 NBPF12 RNF115 POLR3C NUDT17 PPIAL4G BCL9 NBPF10 ANKRD35 PDE4DIP LOC100996763 CD160 MIR6736 ITGA10 LOC728989 ANKRD34A LINC00624 LOC105371242 MIR5087 RNVU1-3
dgv327n100	Chr.1:146028214 - 148860637 on Build GRCh38	Gain	GPR89B LOC100132057 PDIA3P1 CH17-408M7.1 RNVU1-7 RNVU1-6 PDZK1P1 LOC105371226 NBPF14 NUDT4P1 MIR6077 FMO5 LOC101928979 LOC101927468 RNVU1-8 LOC100996517 RNVU1-1 NUDT4P2 LOC100505824 LINC01138 HYDIN2 CHD1L GJA8 NBPF12 PRKAB2 PPIAL4G BCL9 NBPF10 PDE4DIP NBPF11 LOC100996763 LOC284561 GJA5 RNU1-13P NOTCH2NL LOC728989 ACP6 LINC00624 LOC105371242 NBPF13P MIR5087 RNVU1-3
esv2761299	Chr.1:146068341 - 148926801 on Build GRCh38	Gain+Loss	GPR89B LOC100132057 PDIA3P1 CH17-408M7.1 RNVU1-7 PDZK1P1 LOC105371226 NBPF14 NUDT4P1 MIR6077 FMO5 LOC101927468 RNVU1-8 LOC100996517 RNVU1-1 NUDT4P2 LOC100505824 LINC01138 HYDIN2 CHD1L GJA8 NBPF12 PRKAB2 PPIAL4G BCL9 NBPF10 PDE4DIP NBPF11 LOC100996763 LOC284561 GJA5 RNU1-13P NOTCH2NL LOC728989 ACP6 LINC00624 LOC105371242 NBPF13P MIR5087 RNVU1-3
nsv509457	Chr.1:145948024 - 149021821 on Build GRCh38	Insertion	GPR89B LOC100132057 PDIA3P1 CH17-408M7.1 RNVU1-7 RNVU1-6 HFE2 PDZK1P1 LOC105371226 NBPF14 NUDT4P1 MIR6077 FMO5 LOC101928979 LOC101927468 RNVU1-8 LOC100996517 RNVU1-1 NUDT4P2 LOC100505824 LIX1L LINC01138 HYDIN2 CHD1L GJA8 NBPF12 PRKAB2 TXNIP POLR3GL PPIAL4G BCL9 NBPF10 PDE4DIP NBPF11 LOC100996763 LOC284561 GJA5 RNU1-13P NOTCH2NL LOC728989 ACP6 ANKRD34A LINC00624 LOC105371242 NBPF13P MIR5087 RNVU1-3
nsv1132304	Chr.1:146186094 - 148977674 on Build GRCh38	Duplication	GPR89B LOC100132057 PDIA3P1 CH17-408M7.1 RNVU1-7 PDZK1P1 LOC105371226 NBPF14 NUDT4P1 MIR6077 FMO5 LOC101927468 RNVU1-8 LOC100996517 RNVU1-1 NUDT4P2 LOC100505824 LINC01138 HYDIN2 CHD1L GJA8 NBPF12 PRKAB2 PPIAL4G BCL9 PDE4DIP NBPF11 LOC100996763 LOC284561 GJA5 RNU1-13P NOTCH2NL LOC728989 ACP6 LINC00624 LOC105371242 NBPF13P MIR5087 RNVU1-3
nsv1003688	Chr.1:146036817 - 148934526 on Build GRCh38	Gain	GPR89B LOC100132057 PDIA3P1 CH17-408M7.1 RNVU1-7 RNVU1-6 PDZK1P1 LOC105371226 NBPF14 NUDT4P1 MIR6077 FMO5 LOC101928979 LOC101927468 RNVU1-8 LOC100996517 RNVU1-1 NUDT4P2 LOC100505824 LINC01138 HYDIN2 CHD1L GJA8 NBPF12 PRKAB2 PPIAL4G BCL9 NBPF10 PDE4DIP NBPF11 LOC100996763 LOC284561 GJA5 RNU1-13P NOTCH2NL LOC728989 ACP6 LINC00624 LOC105371242 NBPF13P MIR5087 RNVU1-3
dgv66e199	Chr.1:146055970 - 149056514 on Build GRCh38	Deletion	GPR89B LOC100132057 PDIA3P1 CH17-408M7.1 RNVU1-7 PDZK1P1 LOC105371226 NBPF14 NUDT4P1 MIR6077 FMO5 LOC101928979 LOC101927468 RNVU1-8 LOC100996517 RNVU1-1 NUDT4P2 LOC100505824 LINC01138 HYDIN2 CHD1L GJA8 NBPF12 PRKAB2 PPIAL4G BCL9 NBPF10 NBPF9 PDE4DIP NBPF11 LOC100996763 LOC284561 GJA5 RNU1-13P NOTCH2NL LOC728989 ACP6 LINC00624 LOC105371242 NBPF13P MIR5087 RNVU1-3
nsv437047	Chr.1:147171976 - 147369886 on Build GRCh38	Loss	PDIA3P1 PRKAB2 CHD1L FMO5

More Information

• 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