Hs00106858_cn

• Gene Symbol: SOX18
• Assay Reference Genome Location: Chr.20:64048229 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	1202	NP_060889.1
	AB033888.1	2	1237	BAA94874.1
	AF270652.1	2	1214	AAG48577.1
	AJ243896.1	2	1104	CAB95835.1
	BC038590.1	2	1204	AAH38590.1
	BC073971.1	2	1204	AAH73971.1
	BC111390.1	2	1202

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
nsv586727	Chr.20:64048243 - 64052630 on Build GRCh38	Gain	SOX18 TCEA2
nsv470564	Chr.20:64027492 - 64169828 on Build GRCh38	Gain	MYT1 MIR6813 SOX18 LKAAEAR1 PRPF6 TCEA2 LINC00176 NPBWR2 RGS19 OPRL1
nsv586722	Chr.20:64048115 - 64048926 on Build GRCh38	Loss	SOX18 TCEA2
nsv586703	Chr.20:63964886 - 64095388 on Build GRCh38	Loss	MIR6813 SOX18 LKAAEAR1 SAMD10 PRPF6 TCEA2 LINC00176 RGS19 OPRL1 ZNF512B
nsv509785	Chr.20:63999103 - 64137376 on Build GRCh38	Insertion	MIR6813 SOX18 LKAAEAR1 PRPF6 TCEA2 LINC00176 NPBWR2 RGS19 OPRL1
nsv428381	Chr.20:63583375 - 64334167 on Build GRCh38	Gain+Loss	MYT1 SOX18 TNFRSF6B GMEB2 PCMTD2 RGS19 TPD52L2 ZNF512B UCKL1 LOC100505771 MIR941-3 MIR647 MIR941-2 LINC00266-1 C20orf181 MIR941-1 MIR1914 MIR941-4 ABHD16B ZGPAT LKAAEAR1 SAMD10 TCEA2 MIR941-5 ZBTB46-AS1 UCKL1-AS1 STMN3 OPRL1 ZBTB46 MIR6813 RTEL1 PRPF6 RTEL1-TNFRSF6B LINC00176 NPBWR2 SLC2A4RG ARFRP1 LIME1 DNAJC5
esv22562	Chr.20:64048087 - 64049968 on Build GRCh38	Loss	SOX18 TCEA2
nsv953310	Chr.20:64017648 - 64160147 on Build GRCh38	Deletion	MIR6813 SOX18 LKAAEAR1 PRPF6 TCEA2 LINC00176 NPBWR2 RGS19 OPRL1
nsv1160691	Chr.20:63943650 - 64055199 on Build GRCh38	Deletion	SOX18 SAMD10 PRPF6 TCEA2 LINC00176 UCKL1-AS1 ZNF512B UCKL1
dgv7699n54	Chr.20:64036665 - 64048700 on Build GRCh38	Loss	SOX18 TCEA2 LINC00176
esv2758807	Chr.20:64006869 - 64334167 on Build GRCh38	Gain+Loss	MYT1 MIR6813 SOX18 LKAAEAR1 PRPF6 TCEA2 LINC00176 NPBWR2 LINC00266-1 PCMTD2 RGS19 OPRL1
nsv586721	Chr.20:64047196 - 64049671 on Build GRCh38	Gain	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