Hs00338835_cn

• Gene Symbol: RECQL4
• Assay Reference Genome Location: Chr.8:144514234 on build GRCh38
• Cytoband: 8q24.3

Target Gene Details

• Entrez Gene ID: 9401
• Gene Name: RecQ like helicase 4
• Gene Aliases: RECQ4
• Location: Chr.8:144511284-144517833 on Build GRCh38
• Assay Gene Location: Within Exon 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RECQL4	NM_004260.3	11	1875	NP_004251.3
	XM_011517384.2	11	1875	XP_011515686.1
	XM_017013991.1	11	1880	XP_016869480.1
	XM_017013992.1	11	1879	XP_016869481.1
	XM_017013993.1	11	1879	XP_016869482.1
	XM_017013994.1	12	1785	XP_016869483.1
	XM_017013995.1	11	1877	XP_016869484.1
	XM_017013996.1	11	1878	XP_016869485.1
	XM_017013997.1	11	1880	XP_016869486.1
	XM_017013998.1	11	1877	XP_016869487.1
	XM_017013999.1	11	1879	XP_016869488.1
	XM_017014000.1	7	791	XP_016869489.1
	XM_017014001.1	9	1971	XP_016869490.1
	AB006532.1	11	1833	BAA74453.1
	BC011602.2	4	434	AAH11602.2
	BC013277.2	2	172	AAH13277.2
	KJ147518.1	7	1380

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv470249	Chr.8:143889098 - 144519234 on Build GRCh38	Loss	MIR661 KIFC2 CYC1 MIR6848 GPT LOC101928953 OPLAH PPP1R16A MAF1 RECQL4 MIR939 HGH1 SPATC1 BOP1 SLC52A2 PLEC LOC101928902 EXOSC4 MIR7112 SLC39A4 TONSL SHARPIN GRINA WDR97 CYHR1 GPAA1 DGAT1 SCRT1 MIR6849 PARP10 SMPD5 SCX ADCK5 VPS28 HSF1 MFSD3 FBXL6 TONSL-AS1 MIR6893 MIR6846 MROH1 MIR1234 CPSF1 TMEM249 LRRC14 FOXH1 MIR6847
nsv612951	Chr.8:144479830 - 144677692 on Build GRCh38	Loss	C8orf82 ARHGAP39 GPT LRRC24 LRRC14 LOC101928953 MFSD3 PPP1R16A RECQL4
nsv831489	Chr.8:144342140 - 144544026 on Build GRCh38	Loss	KIFC2 GPT LOC101928953 PPP1R16A RECQL4 MIR939 ARHGAP39 SLC52A2 LOC101928902 SLC39A4 TONSL CYHR1 C8orf82 MIR6849 ADCK5 VPS28 MFSD3 FBXL6 TONSL-AS1 MIR6893 MIR1234 CPSF1 TMEM249 LRRC24 LRRC14 FOXH1
dgv12439n54	Chr.8:144438306 - 144525122 on Build GRCh38	Loss	TONSL-AS1 CYHR1 KIFC2 GPT LRRC24 LRRC14 FOXH1 LOC101928953 MFSD3 TONSL PPP1R16A RECQL4
dgv1207n67	Chr.8:144498396 - 144532417 on Build GRCh38	Gain	C8orf82 ARHGAP39 GPT LRRC24 LRRC14 LOC101928953 MFSD3 PPP1R16A RECQL4
dgv907n27	Chr.8:144416180 - 144525122 on Build GRCh38	Loss	CYHR1 KIFC2 GPT VPS28 LOC101928953 MFSD3 PPP1R16A RECQL4 TONSL-AS1 MIR6893 LRRC24 LRRC14 FOXH1 SLC39A4 TONSL
dgv12442n54	Chr.8:144492696 - 144516381 on Build GRCh38	Loss	GPT LOC101928953 MFSD3 PPP1R16A RECQL4
dgv12434n54	Chr.8:144270080 - 144516801 on Build GRCh38	Loss	KIFC2 MIR6848 GPT LOC101928953 PPP1R16A RECQL4 MIR939 BOP1 SLC52A2 LOC101928902 SLC39A4 TONSL CYHR1 DGAT1 SCRT1 MIR6849 ADCK5 VPS28 HSF1 MFSD3 FBXL6 TONSL-AS1 MIR6893 MIR1234 CPSF1 TMEM249 FOXH1
dgv12443n54	Chr.8:144502322 - 144518490 on Build GRCh38	Loss	GPT LRRC14 LOC101928953 MFSD3 RECQL4
nsv515809	Chr.8:143904439 - 144519234 on Build GRCh38	Gain+Loss	MIR661 KIFC2 CYC1 MIR6848 GPT LOC101928953 OPLAH PPP1R16A MAF1 RECQL4 MIR939 HGH1 SPATC1 BOP1 SLC52A2 PLEC LOC101928902 EXOSC4 MIR7112 SLC39A4 TONSL SHARPIN GRINA WDR97 CYHR1 GPAA1 DGAT1 SCRT1 MIR6849 PARP10 SMPD5 SCX ADCK5 VPS28 HSF1 MFSD3 FBXL6 TONSL-AS1 MIR6893 MIR6846 MROH1 MIR1234 CPSF1 TMEM249 LRRC14 FOXH1 MIR6847
nsv612940	Chr.8:144436292 - 144613673 on Build GRCh38	Loss	CYHR1 C8orf82 KIFC2 GPT LOC101928953 MFSD3 PPP1R16A RECQL4 TONSL-AS1 ARHGAP39 LRRC24 LRRC14 FOXH1 TONSL
nsv428208	Chr.8:144041826 - 144722291 on Build GRCh38	Gain	ZNF251 KIFC2 CYC1 MIR6848 GPT LOC101928953 OPLAH PPP1R16A MAF1 RECQL4 MIR939 HGH1 SPATC1 BOP1 ARHGAP39 SLC52A2 LOC101928902 EXOSC4 MIR7112 SLC39A4 TONSL SHARPIN WDR97 CYHR1 GPAA1 DGAT1 SCRT1 C8orf82 MIR6849 SMPD5 SCX ADCK5 VPS28 HSF1 MFSD3 FBXL6 TONSL-AS1 MIR6893 MIR6846 MROH1 MIR1234 CPSF1 TMEM249 LRRC24 LRRC14 FOXH1 MIR6847
esv29999	Chr.8:144456732 - 144525122 on Build GRCh38	Loss	CYHR1 KIFC2 GPT LRRC24 LRRC14 FOXH1 LOC101928953 MFSD3 PPP1R16A RECQL4
nsv612965	Chr.8:144508945 - 144516381 on Build GRCh38	Loss	MFSD3 RECQL4

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

DNA helicase

Gene Ontology Categories:

Process(es)

DNA strand renaturation
DNA replication
DNA repair
base-excision repair
double-strand break repair
DNA recombination
multicellular organism development
DNA duplex unwinding

Function(s)

bubble DNA binding
protein binding
ATP binding
four-way junction helicase activity
annealing helicase activity
ATP-dependent 3'-5' DNA helicase activity