Hs04193582_cn

• Gene Symbol: CHD1L
• Assay Reference Genome Location: Chr.1:147208360 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 6

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

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