Hs01204771_cn

• Gene Symbol: ELL3
• Assay Reference Genome Location: Chr.15:43776957 on build GRCh38
• Cytoband: 15q15.3

Target Gene Details

• Entrez Gene ID: 80237
• Gene Name: elongation factor for RNA polymerase II 3
• Gene Aliases: -
• Location: Chr.15:43772600-43777304 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ELL3	NM_025165.2	1	348	NP_079441.1
	AF276512.1			AAG13463.1
	AK026290.1			BAB15432.1
	AK126384.1	1	587
	BC006548.2			AAH06548.1
	BC019293.1			AAH19293.1
	CR457358.1			CAG33639.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1036318	Chr.15:43761419 - 43868575 on Build GRCh38	Gain	SERF2 MIR1282 WDR76 MFAP1 SERINC4 ELL3 HYPK PDIA3 SERF2-C15ORF63
esv2760028	Chr.15:43530960 - 43856443 on Build GRCh38	Gain+Loss	SERF2 CATSPER2 STRC WDR76 CKMT1B CKMT1A MAP1A STRCP1 MFAP1 SERINC4 PDIA3 MIR1282 CATSPER2P1 ELL3 HYPK SERF2-C15ORF63 PPIP5K1

More Information

Additional Information:

For this assay, SNP(s) [rs140343683] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

general transcription factor

Gene Ontology Categories:

Process(es)

DNA-templated transcription, elongation
transcription from RNA polymerase II promoter
transcription elongation from RNA polymerase II promoter
spermatogenesis
regulation of epithelial to mesenchymal transition
positive regulation of DNA-templated transcription, elongation
snRNA transcription from RNA polymerase II promoter
positive regulation of transcription from RNA polymerase II promoter
stem cell differentiation
positive regulation of neurogenesis
negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator
positive regulation of neural precursor cell proliferation

Function(s)

enhancer binding