Hs02969677_cn

• Gene Symbol: CHD1L
• Assay Reference Genome Location: Chr.1:147186291 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
	NM_001144830.2			NP_001138302.1
	NM_001461.3			NP_001452.2
	XM_005272946.4	9	2574	XP_005273003.1
	XM_005272947.4	9	2318	XP_005273004.1
	XM_005272948.4	9	2301	XP_005273005.1
	XM_006711245.3	8	2237	XP_006711308.1
	XM_011509350.2	9	2605	XP_011507652.1
	XM_011509351.2	8	2337	XP_011507653.1
	XM_017000801.1	8	2349	XP_016856290.1
	XM_017000802.1	8	2119	XP_016856291.1
	AK222728.1			BAD96448.1
	AK225739.1
	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	GJA8 HFE2 NBPF13P LOC101927468 LOC105371242 LOC100996517 ITGA10 CD160 GPR89B LINC01138 TXNIP PPIAL4G NBPF10 RNU1-13P POLR3GL NUDT4P1 BCL9 LOC100996763 HYDIN2 LOC105371226 RNF115 PIAS3 LOC284561 MIR6736 LINC00624 NBPF12 CHD1L GNRHR2 ANKRD34A LOC728989 LOC100132057 LIX1L PDZK1 PRKAB2 MIR5087 FMO5 RNVU1-8 NUDT4P2 LOC100505824 ACP6 MIR6077 POLR3C PDIA3P1 RNVU1-3 RBM8A RNVU1-6 RNVU1-7 CH17-408M7.1 LOC101928979 RNVU1-1 PDE4DIP GPR89A ANKRD35 GJA5 NBPF11 NOTCH2NL PEX11B NBPF14 PDZK1P1 NUDT17
dgv327n100	Chr.1:146028214 - 148860637 on Build GRCh38	Gain	CHD1L LOC728989 LOC100132057 GJA8 NBPF13P LOC101927468 LOC105371242 LOC100996517 PRKAB2 GPR89B MIR5087 FMO5 LINC01138 RNVU1-8 NUDT4P2 LOC100505824 ACP6 MIR6077 PPIAL4G NBPF10 RNU1-13P PDIA3P1 RNVU1-3 NUDT4P1 RNVU1-6 BCL9 RNVU1-7 CH17-408M7.1 LOC100996763 LOC101928979 RNVU1-1 HYDIN2 PDE4DIP LOC105371226 GJA5 NBPF11 LOC284561 NOTCH2NL NBPF14 LINC00624 NBPF12 PDZK1P1
esv2761299	Chr.1:146068341 - 148926801 on Build GRCh38	Gain+Loss	CHD1L LOC728989 LOC100132057 GJA8 NBPF13P LOC101927468 LOC105371242 LOC100996517 PRKAB2 GPR89B MIR5087 FMO5 LINC01138 RNVU1-8 NUDT4P2 LOC100505824 ACP6 MIR6077 PPIAL4G NBPF10 RNU1-13P PDIA3P1 RNVU1-3 NUDT4P1 BCL9 RNVU1-7 CH17-408M7.1 LOC100996763 RNVU1-1 HYDIN2 PDE4DIP LOC105371226 GJA5 NBPF11 LOC284561 NOTCH2NL NBPF14 LINC00624 NBPF12 PDZK1P1
nsv1077657	Chr.1:147010816 - 147207577 on Build GRCh38	Deletion	FMO5 RNVU1-8 CHD1L LOC728989 NBPF13P PDIA3P1 PRKAB2
nsv509457	Chr.1:145948024 - 149021821 on Build GRCh38	Insertion	CHD1L ANKRD34A LOC728989 LOC100132057 GJA8 LIX1L HFE2 NBPF13P LOC101927468 LOC105371242 LOC100996517 PRKAB2 GPR89B MIR5087 FMO5 LINC01138 RNVU1-8 TXNIP NUDT4P2 LOC100505824 ACP6 MIR6077 PPIAL4G NBPF10 RNU1-13P POLR3GL PDIA3P1 RNVU1-3 NUDT4P1 RNVU1-6 BCL9 RNVU1-7 CH17-408M7.1 LOC100996763 LOC101928979 RNVU1-1 HYDIN2 PDE4DIP LOC105371226 GJA5 NBPF11 LOC284561 NOTCH2NL NBPF14 LINC00624 NBPF12 PDZK1P1
nsv1132304	Chr.1:146186094 - 148977674 on Build GRCh38	Duplication	CHD1L LOC728989 LOC100132057 GJA8 NBPF13P LOC101927468 LOC105371242 LOC100996517 PRKAB2 GPR89B MIR5087 FMO5 LINC01138 RNVU1-8 NUDT4P2 LOC100505824 ACP6 MIR6077 PPIAL4G RNU1-13P PDIA3P1 RNVU1-3 NUDT4P1 BCL9 RNVU1-7 CH17-408M7.1 LOC100996763 RNVU1-1 HYDIN2 PDE4DIP LOC105371226 GJA5 NBPF11 LOC284561 NOTCH2NL NBPF14 LINC00624 NBPF12 PDZK1P1
nsv1003688	Chr.1:146036817 - 148934526 on Build GRCh38	Gain	CHD1L LOC728989 LOC100132057 GJA8 NBPF13P LOC101927468 LOC105371242 LOC100996517 PRKAB2 GPR89B MIR5087 FMO5 LINC01138 RNVU1-8 NUDT4P2 LOC100505824 ACP6 MIR6077 PPIAL4G NBPF10 RNU1-13P PDIA3P1 RNVU1-3 NUDT4P1 RNVU1-6 BCL9 RNVU1-7 CH17-408M7.1 LOC100996763 LOC101928979 RNVU1-1 HYDIN2 PDE4DIP LOC105371226 GJA5 NBPF11 LOC284561 NOTCH2NL NBPF14 LINC00624 NBPF12 PDZK1P1
dgv66e199	Chr.1:146055970 - 149056514 on Build GRCh38	Deletion	CHD1L LOC728989 LOC100132057 GJA8 NBPF13P LOC101927468 LOC105371242 LOC100996517 PRKAB2 GPR89B MIR5087 FMO5 LINC01138 RNVU1-8 NUDT4P2 LOC100505824 ACP6 MIR6077 PPIAL4G NBPF10 RNU1-13P PDIA3P1 RNVU1-3 NUDT4P1 BCL9 NBPF9 RNVU1-7 CH17-408M7.1 LOC100996763 LOC101928979 RNVU1-1 HYDIN2 PDE4DIP LOC105371226 GJA5 NBPF11 LOC284561 NOTCH2NL NBPF14 LINC00624 NBPF12 PDZK1P1
nsv437047	Chr.1:147171976 - 147369886 on Build GRCh38	Loss	FMO5 CHD1L PDIA3P1 PRKAB2

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