Hs00059552_cn

• Gene Symbol: SOX18
• Assay Reference Genome Location: Chr.20:64048024 on build GRCh38
• Cytoband: 20q13.33

Target Gene Details

• Entrez Gene ID: 54345
• Gene Name: SRY-box 18
• Gene Aliases: HLTRS, HLTS
• Location: Chr.20:64047726-64049626 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SOX18	NM_018419.2	2	1407	NP_060889.1
	AF270652.1	2	1419	AAG48577.1
	AJ243896.1	2	1309	CAB95835.1
	BC038590.1	2	1409	AAH38590.1
	BC073971.1	2	1409	AAH73971.1
	BC111390.1	2	1407

Target Gene Details

• Entrez Gene ID: 6919
• Gene Name: transcription elongation factor A2
• Gene Aliases: TFIIS
• Location: Chr.20:64042350-64072347 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TCEA2	XM_011529022.1			XP_011527324.1
	XM_011529027.2			XP_011527329.1
	XM_017028036.1			XP_016883525.1
	XM_017028037.1			XP_016883526.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv470564	Chr.20:64027492 - 64169828 on Build GRCh38	Gain	LKAAEAR1 SOX18 TCEA2 MYT1 MIR6813 OPRL1 LINC00176 PRPF6 RGS19 NPBWR2
nsv586703	Chr.20:63964886 - 64095388 on Build GRCh38	Loss	LKAAEAR1 SOX18 TCEA2 MIR6813 OPRL1 LINC00176 PRPF6 RGS19 SAMD10 ZNF512B
nsv509785	Chr.20:63999103 - 64137376 on Build GRCh38	Insertion	LKAAEAR1 SOX18 TCEA2 MIR6813 OPRL1 LINC00176 PRPF6 RGS19 NPBWR2
nsv428381	Chr.20:63583375 - 64334167 on Build GRCh38	Gain+Loss	TNFRSF6B ZBTB46-AS1 SOX18 MYT1 ABHD16B MIR941-4 MIR941-2 RGS19 SAMD10 MIR941-3 MIR647 ZGPAT RTEL1-TNFRSF6B MIR1914 DNAJC5 LOC100505771 PRPF6 ARFRP1 ZBTB46 LIME1 SLC2A4RG PCMTD2 LKAAEAR1 STMN3 RTEL1 MIR6813 OPRL1 C20orf181 NPBWR2 ZNF512B UCKL1-AS1 TCEA2 GMEB2 MIR941-5 TPD52L2 LINC00176 MIR941-1 LINC00266-1 UCKL1
nsv953310	Chr.20:64017648 - 64160147 on Build GRCh38	Deletion	LKAAEAR1 SOX18 TCEA2 MIR6813 OPRL1 LINC00176 PRPF6 RGS19 NPBWR2
nsv1160691	Chr.20:63943650 - 64055199 on Build GRCh38	Deletion	SOX18 TCEA2 LINC00176 PRPF6 UCKL1 SAMD10 ZNF512B UCKL1-AS1
dgv7699n54	Chr.20:64036665 - 64048700 on Build GRCh38	Loss	SOX18 TCEA2 LINC00176
esv2758807	Chr.20:64006869 - 64334167 on Build GRCh38	Gain+Loss	LKAAEAR1 SOX18 TCEA2 MYT1 MIR6813 OPRL1 LINC00176 PRPF6 RGS19 LINC00266-1 NPBWR2 PCMTD2
nsv586720	Chr.20:64047196 - 64048926 on Build GRCh38	Loss	SOX18 TCEA2

More Information

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

Panther Classification:

Molecular Function -

HMG box transcription factor, general transcription factor

Gene Ontology Categories:

Process(es)

negative regulation of transcription from RNA polymerase II promoter
angiogenesis
vasculogenesis
in utero embryonic development
hair follicle development
vasculature development
lymphangiogenesis
heart looping
outflow tract morphogenesis
hair cycle process
embryonic heart tube development
mRNA transcription from RNA polymerase II promoter
blood vessel endothelial cell migration
negative regulation of transcription, DNA-templated
positive regulation of transcription, DNA-templated
positive regulation of transcription from RNA polymerase II promoter
cell maturation
stem cell fate specification
endocardium formation
lymphatic endothelial cell differentiation
endocardial cell differentiation
establishment of endothelial barrier
regulation of stem cell proliferation
DNA-templated transcription, elongation
regulation of DNA-templated transcription, elongation

Function(s)

RNA polymerase II core promoter proximal region sequence-specific DNA binding
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
transcription regulatory region DNA binding
protein heterodimerization activity
DNA binding
protein binding
zinc ion binding