Hs05931086_cn

• Gene Symbol: LOC100130872
• Assay Reference Genome Location: Chr.4:1198263 on build GRCh38
• Cytoband: 4p16.3

Target Gene Details

• Entrez Gene ID: 100130872
• Gene Name: uncharacterized LOC100130872
• Gene Aliases: -
• Location: Chr.4:1195783-1208962 on Build GRCh38
• Assay Gene Location: Within Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LOC100130872	NR_024569.1	4	2501
	AK091779.1			BAC03745.1

Target Gene Details

• Entrez Gene ID: 10417
• Gene Name: spondin 2
• Gene Aliases: DIL-1, DIL1, M-SPONDIN, MINDIN
• Location: Chr.4:1166932-1208962 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SPON2	NM_001199021.1			NP_001185950.1
	DA201089.1
	DB249869.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv8891n54	Chr.4:1181073 - 1261142 on Build GRCh38	Loss	SPON2 LOC101928548 CTBP1-AS CTBP1 CTBP1-AS2 LOC100130872
nsv822425	Chr.4:546316 - 1420011 on Build GRCh38	Loss	CPLX1 CTBP1-AS LOC100129917 DGKQ PDE6B LOC100130872 MYL5 LOC107986211 FGFRL1 LOC101928548 ATP5I CTBP1 MFSD7 LOC105374344 SLC26A1 NKX1-1 GAK LOC101928521 PCGF3 CTBP1-AS2 RNF212 IDUA TMEM175 SPON2 TMED11P UVSSA CRIPAK MAEA
nsv593278	Chr.4:1165892 - 1421910 on Build GRCh38	Loss	NKX1-1 SPON2 LOC101928548 CTBP1-AS CTBP1 CTBP1-AS2 UVSSA CRIPAK LOC100130872 MAEA
nsv950331	Chr.4:1164113 - 1239212 on Build GRCh38	Deletion	SPON2 LOC101928548 CTBP1-AS CTBP1 LOC100130872
nsv508988	Chr.4:1190955 - 1358870 on Build GRCh38	Insertion	SPON2 LOC101928548 CTBP1-AS CTBP1 CTBP1-AS2 UVSSA LOC100130872 MAEA
nsv829835	Chr.4:1103798 - 1310451 on Build GRCh38	Gain	SPON2 LOC101928548 CTBP1-AS TMED11P CTBP1 CTBP1-AS2 LOC105374344 RNF212 LOC100130872 MAEA

More Information

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

Panther Classification:

Molecular Function -

cell adhesion molecule

Gene Ontology Categories:

Process(es)

mast cell mediated immunity
cell adhesion
axon guidance
opsonization
positive regulation of interleukin-6 production
positive regulation of tumor necrosis factor production
induction of bacterial agglutination
innate immune response
defense response to fungus
defense response to virus
positive regulation of macrophage cytokine production
cellular response to lipopolysaccharide

Function(s)

lipopolysaccharide binding
antigen binding
protein binding
metal ion binding