Hs04210219_cn

• Gene Symbol: CHD1L
• Assay Reference Genome Location: Chr.1:147185588 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 Exon 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
FMO5	NM_001144829.2			NP_001138301.1
	XM_005272946.4	9	3277	XP_005273003.1
	XM_005272947.4	9	3021	XP_005273004.1
	XM_005272948.4	9	3004	XP_005273005.1
	XM_006711245.3	8	2940	XP_006711308.1
	XM_011509350.2	9	3308	XP_011507652.1
	XM_011509351.2	8	3040	XP_011507653.1
	XM_017000801.1	8	3052	XP_016856290.1
	XM_017000802.1	8	2822	XP_016856291.1
	AK225739.1

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

More Information

• Set Membership: Intragenic, Exonic, 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