Hs01882607_cn

• Gene Symbol: FOXH1
• Assay Reference Genome Location: Chr.8:144476302 on build GRCh38
• Cytoband: 8q24.3

Target Gene Details

• Entrez Gene ID: 8928
• Gene Name: forkhead box H1
• Gene Aliases: FAST-1, FAST1
• Location: Chr.8:144473732-144476335 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
FOXH1	NM_003923.2			NP_003914.1
	AF076292.1			AAC34303.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv612936	Chr.8:144416180 - 144479830 on Build GRCh38	Loss	CYHR1 MIR6893 SLC39A4 TONSL KIFC2 FOXH1 TONSL-AS1 VPS28 PPP1R16A
nsv470249	Chr.8:143889098 - 144519234 on Build GRCh38	Loss	CYHR1 ADCK5 MIR6893 SLC52A2 SPATC1 MIR6848 WDR97 MIR939 FBXL6 TONSL-AS1 GRINA VPS28 PARP10 PLEC KIFC2 GPT LOC101928953 HSF1 DGAT1 SCRT1 LRRC14 EXOSC4 CYC1 PPP1R16A LOC101928902 MIR6846 HGH1 MIR1234 OPLAH MROH1 MIR661 GPAA1 MIR6849 TMEM249 MFSD3 MIR7112 RECQL4 SLC39A4 TONSL SHARPIN MAF1 CPSF1 FOXH1 SMPD5 SCX BOP1 MIR6847
dgv12434n54	Chr.8:144270080 - 144516801 on Build GRCh38	Loss	CYHR1 ADCK5 MIR6893 SLC52A2 MIR6848 MIR939 FBXL6 TONSL-AS1 VPS28 KIFC2 GPT LOC101928953 HSF1 DGAT1 SCRT1 PPP1R16A LOC101928902 MIR1234 MIR6849 TMEM249 MFSD3 RECQL4 SLC39A4 TONSL CPSF1 FOXH1 BOP1
nsv831489	Chr.8:144342140 - 144544026 on Build GRCh38	Loss	CYHR1 ADCK5 MIR6893 C8orf82 SLC52A2 MIR939 FBXL6 TONSL-AS1 ARHGAP39 VPS28 KIFC2 GPT LOC101928953 LRRC14 PPP1R16A LOC101928902 LRRC24 MIR1234 MIR6849 TMEM249 MFSD3 RECQL4 SLC39A4 TONSL CPSF1 FOXH1
nsv515809	Chr.8:143904439 - 144519234 on Build GRCh38	Gain+Loss	CYHR1 ADCK5 MIR6893 SLC52A2 SPATC1 MIR6848 WDR97 MIR939 FBXL6 TONSL-AS1 GRINA VPS28 PARP10 PLEC KIFC2 GPT LOC101928953 HSF1 DGAT1 SCRT1 LRRC14 EXOSC4 CYC1 PPP1R16A LOC101928902 MIR6846 HGH1 MIR1234 OPLAH MROH1 MIR661 GPAA1 MIR6849 TMEM249 MFSD3 MIR7112 RECQL4 SLC39A4 TONSL SHARPIN MAF1 CPSF1 FOXH1 SMPD5 SCX BOP1 MIR6847
dgv12439n54	Chr.8:144438306 - 144525122 on Build GRCh38	Loss	CYHR1 RECQL4 LRRC24 TONSL KIFC2 FOXH1 GPT LOC101928953 MFSD3 TONSL-AS1 LRRC14 PPP1R16A
nsv612940	Chr.8:144436292 - 144613673 on Build GRCh38	Loss	CYHR1 LRRC24 C8orf82 MFSD3 TONSL-AS1 ARHGAP39 RECQL4 TONSL KIFC2 FOXH1 GPT LOC101928953 LRRC14 PPP1R16A
nsv428208	Chr.8:144041826 - 144722291 on Build GRCh38	Gain	CYHR1 ADCK5 MIR6893 C8orf82 SLC52A2 SPATC1 MIR6848 WDR97 MIR939 FBXL6 TONSL-AS1 ARHGAP39 VPS28 KIFC2 ZNF251 GPT LOC101928953 HSF1 DGAT1 SCRT1 LRRC14 EXOSC4 CYC1 PPP1R16A LOC101928902 MIR6846 LRRC24 HGH1 MIR1234 OPLAH MROH1 GPAA1 MIR6849 TMEM249 MFSD3 MIR7112 RECQL4 SLC39A4 TONSL SHARPIN MAF1 CPSF1 FOXH1 SMPD5 SCX BOP1 MIR6847
esv29999	Chr.8:144456732 - 144525122 on Build GRCh38	Loss	CYHR1 RECQL4 LRRC24 KIFC2 FOXH1 GPT LOC101928953 MFSD3 LRRC14 PPP1R16A

More Information

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

Gene Ontology Categories:

Process(es)

negative regulation of transcription from RNA polymerase II promoter
heart looping
secondary heart field specification
outflow tract morphogenesis
cardiac right ventricle morphogenesis
ventricular trabecula myocardium morphogenesis
transcription from RNA polymerase II promoter
transforming growth factor beta receptor signaling pathway
negative regulation of intracellular estrogen receptor signaling pathway
embryonic heart tube anterior/posterior pattern specification
aorta morphogenesis
positive regulation of transcription, DNA-templated
positive regulation of transcription from RNA polymerase II promoter
axial mesoderm development
negative regulation of androgen receptor signaling pathway
nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry
negative regulation of androgen receptor activity

Function(s)

RNA polymerase II transcription factor activity, sequence-specific DNA binding
RNA polymerase II transcription cofactor activity
transcriptional activator activity, RNA polymerase II transcription factor binding
transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding
DNA binding
transcription factor activity, sequence-specific DNA binding
protein binding
protein domain specific binding
enhancer binding
bHLH transcription factor binding
sequence-specific DNA binding
transcription regulatory region DNA binding
SMAD binding
androgen receptor binding
co-SMAD binding
R-SMAD binding