Hs06544381_cn

• Gene Symbol: DMBX1
• Assay Reference Genome Location: Chr.1:46497814 on build GRCh38
• Cytoband: 1p33

Target Gene Details

• Entrez Gene ID: 127343
• Gene Name: diencephalon/mesencephalon homeobox 1
• Gene Aliases: MBX, OTX3, PAXB
• Location: Chr.1:46489837-46514226 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DMBX1	XM_011540668.2			XP_011538970.1
	XM_017000289.1			XP_016855778.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1009193	Chr.1:46474327 - 46619995 on Build GRCh38	Gain	MKNK1 MKNK1-AS1 DMBX1 MOB3C KNCN
esv2761743	Chr.1:45874186 - 46561071 on Build GRCh38	Gain	POMGNT1 MKNK1 RAD54L FAAH MAST2 TSPAN1 LINC01398 FAAHP1 LRRC41 NSUN4 MKNK1-AS1 LURAP1 DMBX1 LOC101929626 KNCN PIK3R3 UQCRH

More Information

• 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
transcription, DNA-templated
central nervous system development
brain development
adult feeding behavior
adult locomotory behavior
negative regulation of transcription, DNA-templated
developmental growth

Function(s)

RNA polymerase II regulatory region sequence-specific DNA binding
transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding
DNA binding
transcription factor activity, sequence-specific DNA binding
protein homodimerization activity
sequence-specific DNA binding
protein heterodimerization activity