Hs05198040_cn

• Gene Symbol: HHEX
• Assay Reference Genome Location: Chr.10:92691205 on build GRCh38
• Cytoband: 10q23.33

Target Gene Details

• Entrez Gene ID: 3087
• Gene Name: hematopoietically expressed homeobox
• Gene Aliases: HEX, HMPH, HOX11L-PEN, PRH, PRHX
• Location: Chr.10:92689924-92695651 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HHEX	NM_002729.4			NP_002720.1
	AK309463.1
	AK314891.1
	BC014336.1			AAH14336.1
	BC015110.1			AAH15110.1
	BC050638.1			AAH50638.1
	DB504532.1
	L16499.1			AAA02988.1
	X67235.1			CAA47661.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv168n67	Chr.10:92637392 - 92712752 on Build GRCh38	Gain	HHEX KIF11
nsv1046258	Chr.10:92107212 - 92706349 on Build GRCh38	Gain	MARK2P9 IDE HHEX KIF11 MARCH5 CPEB3

More Information

Additional Information:

For this assay, SNP(s) [rs200962922] 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, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

homeodomain transcription factor

Gene Ontology Categories:

Process(es)

negative regulation of transcription from RNA polymerase II promoter
vasculogenesis
in utero embryonic development
myeloid leukocyte differentiation
transcription, DNA-templated
mRNA export from nucleus
Notch signaling pathway
endoderm development
cell proliferation
anterior/posterior pattern specification
negative regulation of transcription by transcription factor localization
negative regulation of transcription by competitive promoter binding
Wnt signaling pathway
negative regulation of angiogenesis
poly(A)+ mRNA export from nucleus
interkinetic nuclear migration
cell differentiation
positive regulation of Wnt signaling pathway
B cell differentiation
thyroid gland development
negative regulation of vascular endothelial growth factor receptor signaling pathway
pancreas development
protein localization to nucleus
embryonic heart tube development
multicellular organism growth
regulation of cell proliferation
negative regulation of cyclin-dependent protein serine/threonine kinase activity
negative regulation of transcription, DNA-templated
positive regulation of transcription from RNA polymerase II promoter
forebrain morphogenesis
primary lung bud formation
gall bladder development
hepatic duct development
hepatoblast differentiation
hepatocyte differentiation
DNA conformation change
primitive streak formation

Function(s)

RNA polymerase II core promoter proximal region sequence-specific DNA binding
transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding
chromatin binding
protein binding
transcription factor binding
eukaryotic initiation factor 4E binding
DNA binding, bending
TBP-class protein binding
protein homodimerization activity
sequence-specific DNA binding
transcription regulatory region DNA binding
repressing transcription factor binding
HMG box domain binding