Hs03336282_cn

• Gene Symbol: CHD1L
• Assay Reference Genome Location: Chr.1:147184154 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	XM_005272946.4	9	4711	XP_005273003.1
	XM_005272947.4	9	4455	XP_005273004.1
	XM_005272948.4	9	4438	XP_005273005.1
	XM_011509350.2	9	4742	XP_011507652.1
	XM_011509351.2	8	4474	XP_011507653.1
	XM_017000801.1	8	4486	XP_016856290.1
	XM_017000802.1	8	4256	XP_016856291.1

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