Hs03032152_cn

• Gene Symbol: SIAE
• Assay Reference Genome Location: Chr.11:124635964 on build GRCh38
• Cytoband: 11q24.2

Target Gene Details

• Entrez Gene ID: 54414
• Gene Name: sialic acid acetylesterase
• Gene Aliases: AIS6, CSE-C, CSEC, LSE, YSG2
• Location: Chr.11:124635789-124676303 on Build GRCh38
• Assay Gene Location: Within Exon 14

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SIAE	NM_001199922.1	12	2863	NP_001186851.1
	NM_170601.4	10	2732	NP_733746.1
	XM_017017930.1	11	5252	XP_016873419.1
	AA938533.1	1	171
	AF303378.1	10	2571	AAG14897.1
	AL137496.1	10	2554	CAB70771.1
	BC068450.1	10	2718	AAH68450.1
	CA778291.1	1	479

Target Gene Details

• Entrez Gene ID: 84897
• Gene Name: transforming growth factor beta regulator 1
• Gene Aliases: NIAM, TB-5
• Location: Chr.11:124622599-124635926 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TBRG1	NM_032811.2			NP_116200.2
	NR_016021.1
	XM_005271709.3			XP_005271766.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1045156	Chr.11:124565356 - 124705852 on Build GRCh38	Loss	SPA17 PANX3 OR8A1 SIAE TBRG1

More Information

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

Panther Classification:

Molecular Function -

esterase, hydrolase, metabolite interconversion enzyme, growth factor, intercellular signal molecule

Gene Ontology Categories:

Process(es)

regulation of immune system process
carbohydrate metabolic process
DNA replication
cell cycle arrest
negative regulation of cell proliferation
nucleolus to nucleoplasm transport
protein stabilization

Function(s)

sialate O-acetylesterase activity
protein binding