Hs01605145_cn

• Gene Symbol: SOX9
• Assay Reference Genome Location: Chr.17:72125351 on build GRCh38
• Cytoband: 17q24.3

Target Gene Details

• Entrez Gene ID: 6662
• Gene Name: SRY-box 9
• Gene Aliases: CMD1, CMPD1, SRA1, SRXX2, SRXY10
• Location: Chr.17:72121020-72126420 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SOX9	NM_000346.3	3	2866	NP_000337.1
	Z46629.1	3	2853	CAA86598.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833530	Chr.17:72033949 - 72232973 on Build GRCh38	Gain+Loss	LINC01152 LOC102723517 LOC101928205 SOX9-AS1 SOX9
esv3573809	Chr.17:71977779 - 72157070 on Build GRCh38	Gain	LINC01152 LOC102723517 LOC102723505 LOC101928205 SOX9-AS1 SOX9

More Information

Additional Information:

For this assay, SNP(s) [rs74999341] 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

Gene Ontology Categories:

Process(es)

negative regulation of transcription from RNA polymerase II promoter
skeletal system development
cartilage condensation
ossification
branching involved in ureteric bud morphogenesis
cell fate specification
epithelial to mesenchymal transition
tissue homeostasis
positive regulation of protein phosphorylation
hair follicle development
positive regulation of mesenchymal cell proliferation
negative regulation of immune system process
heart valve development
heart valve morphogenesis
heart valve formation
endocardial cushion morphogenesis
chondrocyte differentiation involved in endochondral bone morphogenesis
chondrocyte hypertrophy
nucleosome assembly
chromatin remodeling
transcription from RNA polymerase II promoter
protein complex assembly
cytoskeleton organization
signal transduction
epidermal growth factor receptor signaling pathway
Notch signaling pathway
spermatogenesis
positive regulation of cell proliferation
male gonad development
regulation of cell cycle process
positive regulation of epithelial cell migration
neural crest cell development
positive regulation of phosphatidylinositol 3-kinase signaling
single organismal cell-cell adhesion
male germ-line sex determination
cAMP-mediated signaling
regulation of cell adhesion
extracellular matrix organization
negative regulation of ossification
negative regulation of bone mineralization
prostate gland development
negative regulation of epithelial cell differentiation
positive regulation of epithelial cell differentiation
mammary gland development
notochord development
otic vesicle formation
endocrine pancreas development
negative regulation of chondrocyte differentiation
positive regulation of chondrocyte differentiation
lacrimal gland development
protein localization to nucleus
somatic stem cell population maintenance
intrahepatic bile duct development
regulation of cell proliferation
regulation of apoptotic process
negative regulation of apoptotic process
protein kinase B signaling
negative regulation of myoblast differentiation
positive regulation of protein catabolic process
negative regulation of transcription, DNA-templated
positive regulation of transcription, DNA-templated
positive regulation of transcription from RNA polymerase II promoter
negative regulation of photoreceptor cell differentiation
oligodendrocyte differentiation
positive regulation of epithelial cell proliferation
negative regulation of epithelial cell proliferation
cartilage development
Sertoli cell differentiation
Sertoli cell development
astrocyte fate commitment
retina development in camera-type eye
limb bud formation
retinal rod cell differentiation
epithelial tube branching involved in lung morphogenesis
lung epithelial cell differentiation
epithelial cell proliferation involved in prostatic bud elongation
bronchus cartilage development
trachea cartilage development
intestinal epithelial structure maintenance
regulation of cell proliferation involved in tissue homeostasis
positive regulation of cartilage development
regulation of branching involved in lung morphogenesis
morphogenesis of a branching epithelium
lung smooth muscle development
negative regulation of biomineral tissue development
ERK1 and ERK2 cascade
Harderian gland development
cellular response to mechanical stimulus
cellular response to retinoic acid
cellular response to interleukin-1
cellular response to epidermal growth factor stimulus
cellular response to heparin
cellular response to transforming growth factor beta stimulus
renal vesicle induction
ureter urothelium development
ureter smooth muscle cell differentiation
ureter morphogenesis
metanephric nephron tubule formation
negative regulation of canonical Wnt signaling pathway
cochlea morphogenesis
positive regulation of kidney development
positive regulation of branching involved in ureteric bud morphogenesis
positive regulation of extracellular matrix assembly
positive regulation of male gonad development
positive regulation of cell proliferation involved in heart morphogenesis
positive regulation of mesenchymal stem cell differentiation
regulation of epithelial cell proliferation involved in lung morphogenesis
negative regulation of mesenchymal cell apoptotic process

Function(s)

core promoter sequence-specific DNA binding
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
enhancer sequence-specific DNA binding
chromatin binding
transcription factor activity, sequence-specific DNA binding
transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding
protein kinase activity
protein binding
beta-catenin binding
protein kinase A catalytic subunit binding
enhancer binding
bHLH transcription factor binding
protein heterodimerization activity
pre-mRNA intronic binding