Hs04018257_cn

• Gene Symbol: LOC102725180
• Assay Reference Genome Location: Chr.19:1172917 on build GRCh38
• Cytoband: 19p13.3

Target Gene Details

• Entrez Gene ID: 102725180
• Gene Name: collagen alpha-1(VII) chain-like
• Gene Aliases: -
• Location: Chr.19:1168696-1174735 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LOC102725180	XM_017027551.1			XP_016883040.1

Target Gene Details

• Entrez Gene ID: 22904
• Gene Name: strawberry notch homolog 2
• Gene Aliases: KIAA0963, SNO, STNO
• Location: Chr.19:1107634-1174283 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SBNO2	NM_014963.2			NP_055778.2
	XM_011527804.2			XP_011526106.1
	AB023180.1
	AK292407.1
	AK300981.1
	DC400108.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1056200	Chr.19:1107036 - 1193347 on Build GRCh38	Gain	LOC102725180 SBNO2
nsv1058677	Chr.19:1054061 - 1283189 on Build GRCh38	Loss	ABCA7 ARHGAP45 POLR2E CBARP C19orf24 SBNO2 EFNA2 ATP5D CIRBP-AS1 LOC102725180 CIRBP MIDN STK11 GPX4
dgv136n111	Chr.19:1038223 - 1329640 on Build GRCh38	Deletion	ABCA7 ARHGAP45 CNN2 POLR2E CBARP C19orf24 SBNO2 EFNA2 ATP5D CIRBP-AS1 LOC102725180 CIRBP MIDN STK11 GPX4
nsv9662	Chr.19:893394 - 1317740 on Build GRCh38	Gain	TMEM259 ABCA7 ARHGAP45 CNN2 POLR2E ARID3A CBARP C19orf24 R3HDM4 SBNO2 EFNA2 RNU6-2 ATP5D CIRBP-AS1 LOC102725180 CIRBP RNU6-9 WDR18 KISS1R MIDN GRIN3B STK11 LOC105372235 GPX4
nsv470104	Chr.19:1170446 - 1325151 on Build GRCh38	Loss	ATP5D CIRBP-AS1 LOC102725180 CIRBP CBARP C19orf24 MIDN STK11 SBNO2 EFNA2
nsv1160555	Chr.19:887275 - 1346084 on Build GRCh38	Deletion	TMEM259 ABCA7 ARHGAP45 CNN2 ARID3A CBARP RNU6-2 LOC102725180 CIRBP RNU6-9 WDR18 KISS1R MIDN GRIN3B STK11 LOC105372235 GPX4 POLR2E C19orf24 R3HDM4 SBNO2 EFNA2 ATP5D CIRBP-AS1 MED16
nsv470103	Chr.19:1086044 - 1325151 on Build GRCh38	Gain	ARHGAP45 POLR2E CBARP C19orf24 SBNO2 EFNA2 ATP5D CIRBP-AS1 LOC102725180 CIRBP MIDN STK11 GPX4
esv2758743	Chr.19:951641 - 1544934 on Build GRCh38	Gain+Loss	GAMT C19orf25 TMEM259 ABCA7 ARHGAP45 CNN2 ARID3A CBARP REEP6 MUM1 RPS15 RNU6-2 LOC102725180 CIRBP WDR18 PCSK4 MIDN GRIN3B STK11 DAZAP1 LOC105372235 GPX4 APC2 POLR2E PLK5 C19orf24 SBNO2 EFNA2 ATP5D CIRBP-AS1 NDUFS7 ADAMTSL5
nsv953939	Chr.19:1104902 - 1174301 on Build GRCh38	Deletion	LOC102725180 SBNO2 GPX4

More Information

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

Gene Ontology Categories:

Process(es)

macrophage activation involved in immune response
transcription, DNA-templated
bone mineralization
negative regulation of transcription, DNA-templated
positive regulation of transcription from RNA polymerase II promoter
regulation of inflammatory response
bone trabecula morphogenesis
cellular response to lipopolysaccharide
cellular response to interleukin-11
cellular response to interleukin-6
osteoclast fusion
cellular response to leukemia inhibitory factor