Hs02892355_cn

• Gene Symbol: VSX1
• Assay Reference Genome Location: Chr.20:25075960 on build GRCh38
• Cytoband: 20p11.21

Target Gene Details

• Entrez Gene ID: 30813
• Gene Name: visual system homeobox 1
• Gene Aliases: CAASDS, KTCN, KTCN1, PPCD, PPCD1, PPD, RINX
• Location: Chr.20:25069940-25082379 on Build GRCh38
• Assay Gene Location: Within Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
VSX1	NM_001256271.1			NP_001243200.1
	NM_001256272.1			NP_001243201.1
	NM_014588.5	5	1682	NP_055403.2
	NR_045948.1
	NR_045951.1
	XM_017027837.1			XP_016883326.1
	XM_017027838.1			XP_016883327.1
	AF251033.1	5	1434	AAF99656.1
	DQ854807.1	5	1434
	DQ854809.1
	DQ854810.1
	DQ854811.1
	DQ854812.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1056345	Chr.20:24838934 - 25187523 on Build GRCh38	Gain	ACSS1 APMAP CST7 LOC284798 LOC101926889 VSX1
esv3645552	Chr.20:24494271 - 25093181 on Build GRCh38	Gain	SYNDIG1 ACSS1 APMAP CST7 VSX1
nsv522873	Chr.20:23923336 - 26134874 on Build GRCh38	Gain	SYNDIG1 ZNF337-AS1 ZNF337 APMAP VN1R108P FLJ33581 LOC105372585 GINS1 LOC100134868 ENTPD6 ACSS1 LOC284798 LOC101926955 LOC101926889 NANP NINL CST7 PYGB LOC105372580 GGTLC1 LOC105372582 FAM182A FAM182B LOC101926935 NCOR1P1 ABHD12 VSX1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

helix-turn-helix transcription factor, homeodomain transcription factor, DNA-binding transcription factor, gene-specific transcriptional regulator

Gene Ontology Categories:

Process(es)

transcription, DNA-templated
regulation of transcription, DNA-templated
visual perception
neuron maturation
neuron development
response to stimulus
retinal bipolar neuron differentiation

Function(s)

chromatin binding
transcription factor activity, sequence-specific DNA binding
sequence-specific DNA binding
transcription regulatory region DNA binding