Hs02315490_cn

• Gene Symbol: HELZ2
• Assay Reference Genome Location: Chr.20:63560011 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: Within Exon 19

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HELZ2	NM_001037335.2	19	8634	NP_001032412.2
	NM_033405.3	13	6139	NP_208384.3
	AB051556.2	13	6139
	AB201715.1	18	7812	BAE46995.1
	AF517673.1	13	6459	AAM74197.1
	AK055611.1	8	1171	BAB70969.1
	AK074171.1	11	3168	BAB84997.1
	BC150283.1	13	6139

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

More Information

• Set Membership: Intragenic, 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