Hs00124159_cn

• Gene Symbol: SOX18
• Assay Reference Genome Location: Chr.20:64047871 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	1560	NP_060889.1
	AF270652.1	2	1572	AAG48577.1
	AJ243896.1	2	1462	CAB95835.1
	BC038590.1	2	1562	AAH38590.1
	BC073971.1	2	1562	AAH73971.1
	BC111390.1	2	1560

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