Hs02578037_cn

• Gene Symbol: RECQL4
• Assay Reference Genome Location: Chr.8:144513093 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 12

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RECQL4	NM_004260.3	15	2551	NP_004251.3
	XM_011517384.2	15	2353	XP_011515686.1
	XM_017013991.1	14	2646	XP_016869480.1
	XM_017013992.1	14	2645	XP_016869481.1
	XM_017013993.1	15	2555	XP_016869482.1
	XM_017013994.1	15	2551	XP_016869483.1
	XM_017013995.1	15	2553	XP_016869484.1
	XM_017013996.1	14	2644	XP_016869485.1
	XM_017013997.1	14	2448	XP_016869486.1
	XM_017013998.1	14	2643	XP_016869487.1
	XM_017013999.1	15	2357	XP_016869488.1
	XM_017014000.1	10	1557	XP_016869489.1
	XM_017014001.1	13	2647	XP_016869490.1
	AB006532.1	15	2509	BAA74453.1
	BC011602.2	8	1110	AAH11602.2
	BC013277.2	6	848	AAH13277.2
	KJ147518.1	11	1858

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

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