Hs01041002_cn

• Gene Symbol: CELA1
• Assay Reference Genome Location: Chr.12:51345829 on build GRCh38
• Cytoband: 12q13.13

Target Gene Details

• Entrez Gene ID: 1990
• Gene Name: chymotrypsin like elastase family member 1
• Gene Aliases: ELA1
• Location: Chr.12:51328443-51346679 on Build GRCh38
• Assay Gene Location: Overlaps Intron 2 - Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CELA1	NM_001971.5			NP_001962.3
	AF120493.1			AAD28441.1
	BC069454.1			AAH69454.1
	BC075091.2			AAH75091.2

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv832408	Chr.12:51302821 - 51477555 on Build GRCh38	Gain	GALNT6 BIN2 SLC4A8 CELA1

More Information

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

Panther Classification:

Molecular Function -

serine protease

Gene Ontology Categories:

Process(es)

negative regulation of transcription from RNA polymerase II promoter
proteolysis
inflammatory response
post-embryonic development
Wnt signaling pathway
exocrine pancreas development
multicellular organism growth
regulation of cell proliferation
regulation of cell differentiation
positive regulation of angiogenesis
positive regulation of transcription from RNA polymerase II promoter
tissue remodeling
elastin catabolic process
pancreas morphogenesis

Function(s)

serine-type endopeptidase activity
metal ion binding