Product Details

Assay Reference Genome
Location

Chr.8:144516006 on build GRCh38
Cytoband
8q24.3
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

Target Gene Details

Entrez Gene ID
9401
Gene Symbol
RECQL4
Gene Name
RecQ like helicase 4
Gene Aliases
RECQ4
Location
Chr.8:144511284-144517833 on build GRCh38
Assay Gene Location
Overlaps Intron 3 - Exon 3
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
RECQL4 NM_004260.3 NP_004251.3
XM_011517384.2 XP_011515686.1
XM_017013991.1 XP_016869480.1
XM_017013992.1 XP_016869481.1
XM_017013993.1 XP_016869482.1
XM_017013994.1 XP_016869483.1
XM_017013995.1 XP_016869484.1
XM_017013996.1 XP_016869485.1
XM_017013997.1 XP_016869486.1
XM_017013998.1 XP_016869487.1
XM_017013999.1 XP_016869488.1
XM_017014000.1 XP_016869489.1
XM_017014001.1 XP_016869490.1
AB006532.1 BAA74453.1
KJ147518.1

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv470249 Chr8:143889098 - 144519234 on Build GRCh38 Loss SMPD5 FOXH1 CYHR1 DGAT1 MIR1234 SHARPIN SLC52A2 PLEC MAF1 TMEM249 PPP1R16A BOP1 EXOSC4 GPAA1 MFSD3 SCX KIFC2 HGH1 MIR6846 LOC101928953 ADCK5 RECQL4 OPLAH LRRC14 MIR6893 WDR97 MIR7112 LOC101928902 FBXL6 CYC1 MIR6849 TONSL TONSL-AS1 HSF1 CPSF1 MIR6847 GRINA SCRT1 MIR939 SPATC1 MROH1 GPT PARP10 VPS28 MIR6848 MIR661 SLC39A4
nsv612951 Chr8:144479830 - 144677692 on Build GRCh38 Loss MFSD3 LOC101928953 RECQL4 GPT LRRC24 LRRC14 C8orf82 PPP1R16A ARHGAP39
nsv831489 Chr8:144342140 - 144544026 on Build GRCh38 Loss FOXH1 CYHR1 MIR1234 SLC52A2 TMEM249 PPP1R16A ARHGAP39 MFSD3 KIFC2 LOC101928953 ADCK5 RECQL4 LRRC14 MIR6893 LOC101928902 FBXL6 MIR6849 TONSL TONSL-AS1 C8orf82 CPSF1 MIR939 GPT LRRC24 VPS28 SLC39A4
dgv1207n67 Chr8:144498396 - 144532417 on Build GRCh38 Gain MFSD3 LOC101928953 RECQL4 GPT LRRC24 LRRC14 C8orf82 PPP1R16A ARHGAP39
dgv12439n54 Chr8:144438306 - 144525122 on Build GRCh38 Loss FOXH1 CYHR1 MFSD3 KIFC2 LOC101928953 RECQL4 TONSL TONSL-AS1 GPT LRRC24 LRRC14 PPP1R16A
dgv907n27 Chr8:144416180 - 144525122 on Build GRCh38 Loss FOXH1 CYHR1 TONSL TONSL-AS1 PPP1R16A MFSD3 KIFC2 LOC101928953 RECQL4 GPT LRRC24 LRRC14 MIR6893 VPS28 SLC39A4
dgv12442n54 Chr8:144492696 - 144516381 on Build GRCh38 Loss MFSD3 LOC101928953 RECQL4 GPT PPP1R16A
dgv12434n54 Chr8:144270080 - 144516801 on Build GRCh38 Loss FOXH1 CYHR1 DGAT1 MIR1234 SLC52A2 TMEM249 PPP1R16A BOP1 MFSD3 KIFC2 LOC101928953 ADCK5 RECQL4 MIR6893 LOC101928902 FBXL6 MIR6849 TONSL TONSL-AS1 HSF1 CPSF1 SCRT1 MIR939 GPT VPS28 MIR6848 SLC39A4
dgv12443n54 Chr8:144502322 - 144518490 on Build GRCh38 Loss MFSD3 LOC101928953 RECQL4 GPT LRRC14
nsv515809 Chr8:143904439 - 144519234 on Build GRCh38 Gain+Loss SMPD5 FOXH1 CYHR1 DGAT1 MIR1234 SHARPIN SLC52A2 PLEC MAF1 TMEM249 PPP1R16A BOP1 EXOSC4 GPAA1 MFSD3 SCX KIFC2 HGH1 MIR6846 LOC101928953 ADCK5 RECQL4 OPLAH LRRC14 MIR6893 WDR97 MIR7112 LOC101928902 FBXL6 CYC1 MIR6849 TONSL TONSL-AS1 HSF1 CPSF1 MIR6847 GRINA SCRT1 MIR939 SPATC1 MROH1 GPT PARP10 VPS28 MIR6848 MIR661 SLC39A4
nsv612940 Chr8:144436292 - 144613673 on Build GRCh38 Loss FOXH1 CYHR1 TONSL TONSL-AS1 C8orf82 PPP1R16A ARHGAP39 MFSD3 KIFC2 LOC101928953 RECQL4 GPT LRRC24 LRRC14
nsv428208 Chr8:144041826 - 144722291 on Build GRCh38 Gain SMPD5 FOXH1 CYHR1 DGAT1 MIR1234 SHARPIN SLC52A2 MAF1 TMEM249 PPP1R16A ARHGAP39 BOP1 EXOSC4 GPAA1 MFSD3 SCX KIFC2 HGH1 MIR6846 LOC101928953 ADCK5 RECQL4 OPLAH LRRC14 MIR6893 WDR97 MIR7112 LOC101928902 FBXL6 CYC1 MIR6849 TONSL TONSL-AS1 HSF1 C8orf82 CPSF1 MIR6847 SCRT1 MIR939 SPATC1 MROH1 GPT LRRC24 ZNF251 VPS28 MIR6848 SLC39A4
nsv612965 Chr8:144508945 - 144516381 on Build GRCh38 Loss MFSD3 RECQL4
esv29999 Chr8:144456732 - 144525122 on Build GRCh38 Loss FOXH1 CYHR1 MFSD3 KIFC2 LOC101928953 RECQL4 GPT LRRC24 LRRC14 PPP1R16A

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