Hs04250494_cn

• Gene Symbol: DLG1
• Assay Reference Genome Location: Chr.3:197299020 on build GRCh38
• Cytoband: 3q29

Target Gene Details

• Entrez Gene ID: 1739
• Gene Name: discs large MAGUK scaffold protein 1
• Gene Aliases: DLGH1, SAP-97, SAP97, dJ1061C18.1.1, hdlg
• Location: Chr.3:197042560-197299272 on Build GRCh38
• Assay Gene Location: Overlaps Intron 1 - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DLG1	NM_001290983.1			NP_001277912.1
	XM_017005803.1			XP_016861292.1
	XM_017005819.1			XP_016861308.1
	EF553524.1

Target Gene Details

• Entrez Gene ID: 100507086
• Gene Name: DLG1 antisense RNA 1
• Gene Aliases: -
• Location: Chr.3:197298247-197303751 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DLG1-AS1	NR_038289.1	2	407

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3599293	Chr.3:196759100 - 197444213 on Build GRCh38	Gain	PAK2 NCBP2 MFI2-AS1 NCBP2-AS2 MELTF DLG1-AS1 PIGZ DLG1 SENP5 MIR4797
nsv829830	Chr.3:197161008 - 197354023 on Build GRCh38	Gain	DLG1-AS1 DLG1 MIR4797
esv3893852	Chr.3:197204950 - 197333165 on Build GRCh38	Gain	DLG1-AS1 DLG1 MIR4797
nsv428431	Chr.3:197128182 - 197316896 on Build GRCh38	Gain+Loss	DLG1-AS1 DLG1 MIR4797
esv3599304	Chr.3:197291633 - 197300133 on Build GRCh38	Gain	DLG1-AS1 DLG1 MIR4797
nsv516873	Chr.3:197066987 - 197300056 on Build GRCh38	Gain+Loss	DLG1-AS1 DLG1 MIR4797
dgv5038n100	Chr.3:197134594 - 197659420 on Build GRCh38	Gain	LOC100129516 LOC107986175 BDH1 DLG1-AS1 LOC220729 DLG1 MIR4797
nsv593116	Chr.3:197183211 - 197617305 on Build GRCh38	Gain	LOC100129516 BDH1 DLG1-AS1 LOC220729 DLG1 MIR4797
nsv818205	Chr.3:197291254 - 197300056 on Build GRCh38	Gain	DLG1-AS1 DLG1 MIR4797

More Information

• Set Membership: Intragenic, Exonic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

scaffold/adaptor protein

Gene Ontology Categories:

Process(es)

negative regulation of transcription from RNA polymerase II promoter
branching involved in ureteric bud morphogenesis
immunological synapse formation
endothelial cell proliferation
lens development in camera-type eye
T cell cytokine production
protein dephosphorylation
actin filament organization
mitotic cell cycle checkpoint
establishment or maintenance of cell polarity
chemical synaptic transmission
nervous system development
positive regulation of cell proliferation
regulation of cell shape
viral process
single organismal cell-cell adhesion
peristalsis
positive regulation of actin filament polymerization
cortical actin cytoskeleton organization
astral microtubule organization
membrane raft organization
regulation of myelination
activation of protein kinase activity
ion transmembrane transport
cellular protein complex localization
T cell activation
negative regulation of T cell proliferation
regulation of membrane potential
amyloid precursor protein metabolic process
receptor clustering
positive regulation of potassium ion transport
cortical microtubule organization
establishment or maintenance of epithelial cell apical/basal polarity
negative regulation of mitotic cell cycle
GMP metabolic process
GDP metabolic process
reproductive structure development
embryonic skeletal system morphogenesis
smooth muscle tissue development
negative regulation of epithelial cell proliferation
establishment of centrosome localization
negative regulation of protein kinase B signaling
hard palate development
negative regulation of ERK1 and ERK2 cascade
bicellular tight junction assembly
protein localization to plasma membrane
positive regulation of establishment of protein localization to plasma membrane
receptor localization to synapse
regulation of NIK/NF-kappaB signaling
regulation of sodium ion transmembrane transport
negative regulation of p38MAPK cascade

Function(s)

guanylate kinase activity
phosphoprotein phosphatase activity
protein binding
protein C-terminus binding
cytoskeletal protein binding
ligand-gated ion channel activity
potassium channel regulator activity
protein kinase binding
phosphatase binding
mitogen-activated protein kinase kinase binding
protein complex scaffold
ionotropic glutamate receptor binding
ion channel binding
L27 domain binding
cadherin binding involved in cell-cell adhesion