Hs02312685_cn

• Gene Symbol: NODAL
• Assay Reference Genome Location: Chr.10:70432492 on build GRCh38
• Cytoband: 10q22.1

Target Gene Details

• Entrez Gene ID: 4838
• Gene Name: nodal growth differentiation factor
• Gene Aliases: HTX5
• Location: Chr.10:70431936-70441709 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NODAL	NM_018055.4	3	1530	NP_060525.3
	BC033585.1	3	1424	AAH33585.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv32737	Chr.10:69504230 - 70786847 on Build GRCh38	Gain+Loss	AIFM2 PALD1 SAR1A NEUROG3 TBATA ADAMTS14 TSPAN15 LRRC20 EIF4EBP2 NODAL TYSND1 H2AFY2 COL13A1 C10orf35 NPFFR1 PRF1 PPA1
nsv1043245	Chr.10:70290210 - 70915897 on Build GRCh38	Loss	TBATA ADAMTS14 LRRC20 EIF4EBP2 SGPL1 PCBD1 NODAL PALD1 PRF1

More Information

Additional Information:

For this assay, SNP(s) [rs77232076] 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 -

growth factor

Gene Ontology Categories:

Process(es)

negative regulation of transcription from RNA polymerase II promoter
trophectodermal cellular morphogenesis
neural fold formation
liver development
placenta development
embryonic placenta development
maternal placenta development
vasculature development
heart looping
inhibition of neuroepithelial cell differentiation
brain development
embryonic pattern specification
polarity specification of proximal/distal axis
regulation of gastrulation
positive regulation of vascular endothelial growth factor production
negative regulation of cell development
positive regulation of pathway-restricted SMAD protein phosphorylation
stem cell population maintenance
positive regulation of cell-cell adhesion
BMP signaling pathway
positive regulation of activin receptor signaling pathway
floor plate morphogenesis
endodermal cell differentiation
cell migration involved in gastrulation
positive regulation of cysteine-type endopeptidase activity involved in apoptotic process
positive regulation of angiogenesis
positive regulation of transcription from RNA polymerase II promoter
axial mesodermal cell fate specification
mesendoderm development
digestive tract morphogenesis
embryonic cranial skeleton morphogenesis
formation of anatomical boundary
positive regulation of epithelial cell proliferation
positive regulation of sequence-specific DNA binding transcription factor activity
embryonic process involved in female pregnancy
maternal process involved in parturition
positive regulation of SMAD protein import into nucleus
SMAD protein signal transduction
left lung morphogenesis
negative regulation of androgen receptor signaling pathway
epiblast cell-extraembryonic ectoderm cell signaling involved in anterior/posterior axis specification
positive regulation of ERK1 and ERK2 cascade
transforming growth factor beta receptor signaling pathway involved in primitive streak formation
nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry
positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry
negative regulation of trophoblast cell migration
negative regulation of chorionic trophoblast cell proliferation
regulation of stem cell population maintenance

Function(s)

cytokine activity
transforming growth factor beta receptor binding
growth factor activity
morphogen activity
receptor agonist activity
type I activin receptor binding