Hs07495880_cn

• Gene Symbol: RECQL5
• Assay Reference Genome Location: Chr.17:75633426 on build GRCh38
• Cytoband: 17q25.1

Target Gene Details

• Entrez Gene ID: 9400
• Gene Name: RecQ like helicase 5
• Gene Aliases: RECQ5
• Location: Chr.17:75626845-75667202 on Build GRCh38
• Assay Gene Location: Overlaps Intron 11 - Exon 11

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RECQL5	NM_004259.6			NP_004250.4
	XM_005257818.3			XP_005257875.1
	XM_005257822.3			XP_005257879.1
	XM_005257823.3			XP_005257880.1
	XM_006722186.2			XP_006722249.1
	XM_011525482.2			XP_011523784.1
	XM_011525484.1			XP_011523786.1
	XM_011525485.2			XP_011523787.1
	XM_011525486.2			XP_011523788.1
	XM_017025343.1			XP_016880832.1
	AB042824.1			BAA95953.1
	AF193041.1			AAG22469.1
	AK304168.1
	BC000570.2			AAH00570.2
	BC063440.1			AAH63440.1
	EF560729.1

Target Gene Details

• Entrez Gene ID: 643008
• Gene Name: small integral membrane protein 5
• Gene Aliases: C17orf109, PP12104
• Location: Chr.17:75633434-75641406 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SMIM5	NM_001162995.2			NP_001156467.1
	XM_011525116.2			XP_011523418.1
	XM_017024943.1			XP_016880432.1
	XM_017024944.1			XP_016880433.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833544	Chr.17:75595541 - 75771639 on Build GRCh38	Loss	SMIM6 MYO15B ITGB4 GALK1 SMIM5 RECQL5 SAP30BP
nsv470603	Chr.17:75468213 - 75741366 on Build GRCh38	Loss	SMIM6 MIR6785 MYO15B ITGB4 TSEN54 TMEM94 CASKIN2 SMIM5 LLGL2 RECQL5 SAP30BP
nsv516133	Chr.17:75420733 - 75763223 on Build GRCh38	Loss	SMIM6 MIR6785 MYO15B ITGB4 GALK1 TSEN54 TMEM94 CASKIN2 SMIM5 LLGL2 RECQL5 SAP30BP
nsv576027	Chr.17:75249939 - 75750289 on Build GRCh38	Gain	MIR3678 SMIM6 MRPS7 MIR6785 MYO15B GRB2 TSEN54 CASKIN2 SMIM5 LLGL2 RECQL5 SAP30BP GGA3 MIF4GD LOC100287042 ITGB4 TMEM94 SLC25A19
nsv833543	Chr.17:75517604 - 75692749 on Build GRCh38	Loss	SMIM6 MYO15B TSEN54 SMIM5 LLGL2 RECQL5 SAP30BP

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

DNA helicase

Gene Ontology Categories:

Process(es)

double-strand break repair via homologous recombination
DNA metabolic process
DNA replication
DNA repair
mitotic nuclear division
DNA duplex unwinding
negative regulation of transcription elongation from RNA polymerase II promoter
cell division
chromosome separation

Function(s)

RNA polymerase II core binding
DNA binding
DNA helicase activity
ATP binding
four-way junction helicase activity
ATP-dependent 3'-5' DNA helicase activity