Hs06360953_cn

• Gene Symbol: LOC100287944
• Assay Reference Genome Location: Chr.12:106684561 on build GRCh38
• Cytoband: 12q23.3

Target Gene Details

• Entrez Gene ID: 100287944
• Gene Name: uncharacterized LOC100287944
• Gene Aliases: -
• Location: Chr.12:106496410-106774831 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LOC100287944	NR_040246.1
	DA250223.1

Target Gene Details

• Entrez Gene ID: 100505978
• Gene Name: uncharacterized LOC100505978
• Gene Aliases: -
• Location: Chr.12:106680758-106684700 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LOC100505978	NR_038912.1

Target Gene Details

• Entrez Gene ID: 5992
• Gene Name: regulatory factor X4
• Gene Aliases: NYD-SP10
• Location: Chr.12:106582907-106762804 on Build GRCh38
• Assay Gene Location: Within Intron 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RFX4	NM_001206691.1			NP_001193620.1
	NM_213594.2			NP_998759.1
	AB044245.1			BAB59001.1
	AB095365.1			BAE48231.1
	AB095366.1			BAE48232.1
	AK074913.1			BAC11288.1
	AK291445.1
	AK302837.1
	AY102009.1			AAM52484.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv832511	Chr.12:106551876 - 106714050 on Build GRCh38	Gain	LOC100505978 RFX4 LOC100287944
nsv9005	Chr.12:106625455 - 106973352 on Build GRCh38	Gain	LOC100505978 RIC8B TMEM263 RFX4 LOC100287944
nsv560090	Chr.12:106541358 - 106830191 on Build GRCh38	Gain	LOC100505978 RIC8B RFX4 LOC100287944

More Information

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

Panther Classification:

Molecular Function -

winged helix/forkhead transcription factor

Gene Ontology Categories:

Process(es)

transcription from RNA polymerase II promoter
dorsal spinal cord development
telencephalon development
cerebellar cortex morphogenesis
negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning
midbrain development
cilium assembly
positive regulation of transcription from RNA polymerase II promoter
regulation of protein processing

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
chromatin binding
protein binding