Hs01938502_cn

• Gene Symbol: RECQL4
• Assay Reference Genome Location: Chr.8:144513617 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 11

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RECQL4	NM_004260.3	13	2196	NP_004251.3
	XM_011517384.2	13	2196	XP_011515686.1
	XM_017013991.1	13	2201	XP_016869480.1
	XM_017013992.1	13	2200	XP_016869481.1
	XM_017013993.1	13	2200	XP_016869482.1
	XM_017013994.1	14	2106	XP_016869483.1
	XM_017013995.1	13	2198	XP_016869484.1
	XM_017013996.1	13	2199	XP_016869485.1
	XM_017013997.1	13	2201	XP_016869486.1
	XM_017013998.1	13	2198	XP_016869487.1
	XM_017013999.1	13	2200	XP_016869488.1
	XM_017014000.1	9	1112	XP_016869489.1
	XM_017014001.1	11	2292	XP_016869490.1
	AB006532.1	13	2154	BAA74453.1
	BC011602.2	6	755	AAH11602.2
	BC013277.2	4	493	AAH13277.2
	KJ147518.1	9	1701

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