Hs00295186_cn

• Gene Symbol: GLB1
• Assay Reference Genome Location: Chr.3:33090835 on build GRCh38
• Cytoband: 3p22.3

Target Gene Details

• Entrez Gene ID: 2720
• Gene Name: galactosidase beta 1
• Gene Aliases: EBP, ELNR1, MPS4B
• Location: Chr.3:32996608-33097230 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GLB1	NM_000404.3			NP_000395.2
	NM_001079811.2			NP_001073279.1
	NM_001135602.2			NP_001129074.1
	NM_001317040.1			NP_001303969.1
	AK130133.1
	AK222763.1			BAD96483.1
	AK223091.1			BAD96811.1
	AK298985.1
	AK300021.1
	AK300753.1
	AK312988.1
	AU134179.1
	BC007493.2			AAH07493.1
	BT007147.1			AAP35811.1
	BX485230.1
	DA077250.1
	DA261513.1
	DB504658.1
	DC301575.1
	M22590.1			AAA51822.1
	M27507.1			AAA51819.1
	M27508.1			AAA35599.1
	M34423.1			AAA51823.1

Target Gene Details

• Entrez Gene ID: 643853
• Gene Name: transmembrane protein with metallophosphoesterase domain
• Gene Aliases: -
• Location: Chr.3:33090416-33096801 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TMPPE	NM_001039770.2	2	3552	NP_001034859.2
	NM_001136238.1	2	3037	NP_001129710.1
	AK126979.1	2	3552	BAC86774.1
	AK128242.1	2	3037	BAC87349.1
	AW103036.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv998302	Chr.3:32595752 - 33112754 on Build GRCh38	Gain	CCR4 GLB1 LOC105377021 CNOT10 TRIM71 TMPPE LOC105377022
nsv1003285	Chr.3:31386933 - 33172886 on Build GRCh38	Gain	OSBPL10 CMTM7 CCR4 SUSD5 GLB1 DYNC1LI1 LOC105377021 OSBPL10-AS1 TMPPE LOC105377022 ZNF860 GPD1L MIR548AY CMTM6 CNOT10 TRIM71 CRTAP STT3B CMTM8
nsv590050	Chr.3:33060889 - 33117420 on Build GRCh38	Loss	GLB1 CRTAP TMPPE

More Information

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

Panther Classification:

Molecular Function -

galactosidase

Gene Ontology Categories:

Process(es)

glycosaminoglycan catabolic process
glycosphingolipid metabolic process
galactose catabolic process
keratan sulfate catabolic process
cellular carbohydrate metabolic process

Function(s)

exo-alpha-sialidase activity
beta-galactosidase activity
protein binding
galactoside binding
hydrolase activity
metal ion binding