Hs00803875_cn

• Gene Symbol: ANKZF1
• Assay Reference Genome Location: Chr.2:219236644 on build GRCh38
• Cytoband: 2q35

Target Gene Details

• Entrez Gene ID: 55139
• Gene Name: ankyrin repeat and zinc finger domain containing 1
• Gene Aliases: ZNF744
• Location: Chr.2:219229757-219236669 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 13

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ANKZF1	NM_001042410.1			NP_001035869.1
	NM_001282792.1			NP_001269721.1
	NM_018089.2			NP_060559.2
	XM_005246663.2			XP_005246720.1
	XM_011511392.2			XP_011509694.1
	XM_017004420.1			XP_016859909.1
	XM_017004421.1			XP_016859910.1
	AA482007.1
	AF364318.1
	AK001277.1			BAA91596.1
	AK023206.1			BAB14462.1
	AK056060.1
	AK095304.1
	AK225275.1
	AK225309.1
	BC000238.1			AAH00238.1
	BC008948.2			AAH08948.1
	DQ412564.1			ABD65410.1

Target Gene Details

• Entrez Gene ID: 79411
• Gene Name: galactosidase beta 1 like
• Gene Aliases: -
• Location: Chr.2:219236598-219245429 on Build GRCh38
• Assay Gene Location: Within Exon 17

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GLB1L	NM_001286423.1	17	2664	NP_001273352.1
	NM_001286427.1	14	2181	NP_001273356.1
	NM_024506.4	17	2652	NP_078782.3
	XM_011511813.2			XP_011510115.1
	XM_017004895.1			XP_016860384.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv834543	Chr.2:219226398 - 219416430 on Build GRCh38	Loss	RESP18 STK16 TUBA4A GLB1L MIR153-1 PTPRN DNPEP ANKZF1 TUBA4B DNAJB2 ATG9A
esv3594357	Chr.2:219236349 - 219237364 on Build GRCh38	Loss	GLB1L ANKZF1
esv3893555	Chr.2:219172722 - 219273269 on Build GRCh38	Loss	STK16 TUBA4A ZFAND2B GLB1L CNPPD1 ANKZF1 TUBA4B FAM134A ATG9A ABCB6
nsv508885	Chr.2:219231225 - 219333602 on Build GRCh38	Insertion	RESP18 STK16 TUBA4A GLB1L MIR153-1 PTPRN ANKZF1 TUBA4B DNAJB2

More Information

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

Panther Classification:

Molecular Function -

galactosidase

Gene Ontology Categories:

Process(es)

ER-associated ubiquitin-dependent protein catabolic process
nucleus-associated proteasomal ubiquitin-dependent protein catabolic process
mitochondria-associated ubiquitin-dependent protein catabolic process
carbohydrate metabolic process

Function(s)

thiol-dependent ubiquitin-specific protease activity
protein binding
metal ion binding
beta-galactosidase activity