Hs07496249_cn

• Gene Symbol: RECQL5
• Assay Reference Genome Location: Chr.17:75633645 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: Within 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	1	574	XP_005257879.1
	XM_005257823.3			XP_005257880.1
	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	1	579	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: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SMIM5	NM_001162995.2	1	212	NP_001156467.1
	XM_011525116.2	1	200	XP_011523418.1
	XM_017024943.1	1	200	XP_016880432.1
	XM_017024944.1	1	200	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 RECQL5 GALK1 SMIM5 SAP30BP ITGB4
nsv470603	Chr.17:75468213 - 75741366 on Build GRCh38	Loss	SMIM6 MYO15B CASKIN2 RECQL5 TSEN54 LLGL2 MIR6785 TMEM94 SMIM5 SAP30BP ITGB4
nsv516133	Chr.17:75420733 - 75763223 on Build GRCh38	Loss	SMIM6 MYO15B CASKIN2 RECQL5 GALK1 TSEN54 LLGL2 MIR6785 TMEM94 SMIM5 SAP30BP ITGB4
nsv576027	Chr.17:75249939 - 75750289 on Build GRCh38	Gain	MYO15B CASKIN2 RECQL5 MIR3678 TMEM94 GRB2 LOC100287042 SAP30BP ITGB4 SLC25A19 SMIM6 MRPS7 GGA3 TSEN54 LLGL2 MIR6785 SMIM5 MIF4GD
nsv833543	Chr.17:75517604 - 75692749 on Build GRCh38	Loss	SMIM6 MYO15B RECQL5 TSEN54 LLGL2 SMIM5 SAP30BP

More Information

• Set Membership: Intragenic, 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