Hs00900927_cn

• Gene Symbol: HELZ2
• Assay Reference Genome Location: Chr.20:63560261 on build GRCh38
• Cytoband: 20q13.33

Target Gene Details

• Entrez Gene ID: 85441
• Gene Name: helicase with zinc finger 2
• Gene Aliases: PDIP-1, PRIC285
• Location: Chr.20:63558086-63574239 on Build GRCh38
• Assay Gene Location: Overlaps Intron 17 - Exon 18

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HELZ2	NM_001037335.2			NP_001032412.2
	NM_033405.3			NP_208384.3
	AB051556.2
	AB201715.1			BAE46995.1
	AF517673.1			AAM74197.1
	AK055611.1			BAB70969.1
	AK074171.1			BAB84997.1
	BC150283.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv586578	Chr.20:63558992 - 63570431 on Build GRCh38	Loss	HELZ2
nsv953306	Chr.20:63151949 - 63571247 on Build GRCh38	Deletion	FLJ16779 ARFGAP1 LOC100130152 MIR4326 NKAIN4 SRMS MIR3196 KCNQ2 LOC102723788 EEF1A2 LOC107985425 PPDPF LOC100130587 BIRC7 COL20A1 HELZ2 FNDC11 CHRNA4 MIR124-3 YTHDF1 PTK6
nsv586573	Chr.20:63535645 - 63560584 on Build GRCh38	Loss	HELZ2 FNDC11 SRMS PTK6
nsv521734	Chr.20:63522433 - 63566995 on Build GRCh38	Loss	HELZ2 FNDC11 SRMS PTK6
nsv9825	Chr.20:62775470 - 63601330 on Build GRCh38	Gain	LOC100130152 SLC17A9 NKAIN4 MIR3196 KCNQ2 LINC00659 EEF1A2 LOC63930 PPDPF LOC100130587 HAR1A BIRC7 TCFL5 LINC01056 DPH3P1 COL20A1 HELZ2 FNDC11 MIR124-3 MRGBP GMEB2 FLJ16779 ARFGAP1 LOC107985428 HAR1B MIR4326 LINC00029 SRMS DIDO1 LOC102723788 OGFR-AS1 LOC107985425 COL9A3 OGFR GID8 CHRNA4 BHLHE23 YTHDF1 PTK6
nsv470563	Chr.20:63486715 - 63793308 on Build GRCh38	Loss	GMEB2 STMN3 ZGPAT ZBTB46 SLC2A4RG RTEL1 RTEL1-TNFRSF6B SRMS LIME1 EEF1A2 PPDPF ARFRP1 HELZ2 FNDC11 TNFRSF6B LOC100505771 PTK6
nsv834034	Chr.20:63462825 - 63625901 on Build GRCh38	Loss	GMEB2 PPDPF HELZ2 FNDC11 SRMS KCNQ2 PTK6 EEF1A2
nsv517702	Chr.20:63540916 - 63581575 on Build GRCh38	Loss	HELZ2 FNDC11 SRMS
esv2758806	Chr.20:63470996 - 63745014 on Build GRCh38	Gain+Loss	GMEB2 STMN3 ZGPAT ZBTB46 SLC2A4RG RTEL1 RTEL1-TNFRSF6B SRMS LIME1 KCNQ2 EEF1A2 PPDPF ARFRP1 HELZ2 FNDC11 TNFRSF6B LOC100505771 PTK6

More Information

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

Panther Classification:

Molecular Function -

DNA metabolism protein

Gene Ontology Categories:

Process(es)

transcription, DNA-templated
cellular lipid metabolic process
positive regulation of transcription from RNA polymerase II promoter

Function(s)

DNA binding
helicase activity
protein binding
ATP binding
ligand-dependent nuclear receptor transcription coactivator activity
poly(A) RNA binding
metal ion binding