Product Details

Assay Reference Genome
Location

Chr.8:144513093 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
Within Exon 12
Gene Symbol Transcript Accession Exon Location Assay 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 Chr8:143889098 - 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 Chr8:144479830 - 144677692 on Build GRCh38 Loss PPP1R16A LOC101928953 RECQL4 GPT MFSD3 C8orf82 ARHGAP39 LRRC14 LRRC24
nsv831489 Chr8:144342140 - 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 Chr8:144498396 - 144532417 on Build GRCh38 Gain PPP1R16A LOC101928953 RECQL4 GPT MFSD3 C8orf82 ARHGAP39 LRRC14 LRRC24
dgv12439n54 Chr8:144438306 - 144525122 on Build GRCh38 Loss PPP1R16A LOC101928953 RECQL4 TONSL-AS1 CYHR1 GPT MFSD3 TONSL KIFC2 LRRC14 FOXH1 LRRC24
dgv907n27 Chr8:144416180 - 144525122 on Build GRCh38 Loss PPP1R16A LOC101928953 TONSL-AS1 MIR6893 VPS28 CYHR1 GPT TONSL LRRC14 FOXH1 LRRC24 SLC39A4 RECQL4 MFSD3 KIFC2
dgv12442n54 Chr8:144492696 - 144516381 on Build GRCh38 Loss PPP1R16A LOC101928953 RECQL4 GPT MFSD3
dgv12434n54 Chr8:144270080 - 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 Chr8:144502322 - 144518490 on Build GRCh38 Loss LOC101928953 RECQL4 GPT MFSD3 LRRC14
nsv515809 Chr8:143904439 - 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 Chr8:144436292 - 144613673 on Build GRCh38 Loss PPP1R16A LOC101928953 TONSL-AS1 CYHR1 GPT TONSL C8orf82 ARHGAP39 LRRC14 FOXH1 LRRC24 RECQL4 MFSD3 KIFC2
nsv428208 Chr8:144041826 - 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 Chr8:144508945 - 144516381 on Build GRCh38 Loss RECQL4 MFSD3
esv29999 Chr8:144456732 - 144525122 on Build GRCh38 Loss PPP1R16A LOC101928953 RECQL4 CYHR1 GPT MFSD3 KIFC2 LRRC14 FOXH1 LRRC24

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