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
dgv907n27	Chr.8:144416180 - 144525122 on Build GRCh38	Loss	FOXH1 RECQL4 LOC101928953 PPP1R16A KIFC2 VPS28 LRRC24 GPT MFSD3 TONSL-AS1 SLC39A4 MIR6893 TONSL CYHR1 LRRC14
dgv12434n54	Chr.8:144270080 - 144516801 on Build GRCh38	Loss	MIR6848 RECQL4 PPP1R16A MIR1234 DGAT1 VPS28 MFSD3 BOP1 CPSF1 LOC101928902 SLC39A4 MIR6893 ADCK5 TONSL HSF1 MIR6849 FOXH1 TMEM249 LOC101928953 KIFC2 SLC52A2 GPT SCRT1 FBXL6 TONSL-AS1 MIR939 CYHR1
nsv470249	Chr.8:143889098 - 144519234 on Build GRCh38	Loss	MIR6848 RECQL4 PPP1R16A PARP10 MIR1234 DGAT1 SCX VPS28 EXOSC4 MFSD3 BOP1 MIR7112 MROH1 CPSF1 LOC101928902 OPLAH WDR97 SLC39A4 MIR6893 ADCK5 PLEC TONSL MIR661 HSF1 MIR6849 HGH1 FOXH1 TMEM249 LOC101928953 SMPD5 KIFC2 CYC1 SPATC1 SLC52A2 MAF1 GPT SCRT1 MIR6846 SHARPIN FBXL6 MIR6847 TONSL-AS1 MIR939 GRINA CYHR1 LRRC14 GPAA1
nsv831489	Chr.8:144342140 - 144544026 on Build GRCh38	Loss	C8orf82 RECQL4 PPP1R16A MIR1234 VPS28 LRRC24 MFSD3 CPSF1 LOC101928902 SLC39A4 MIR6893 ADCK5 TONSL MIR6849 ARHGAP39 FOXH1 TMEM249 LOC101928953 KIFC2 SLC52A2 GPT FBXL6 TONSL-AS1 MIR939 CYHR1 LRRC14
nsv515809	Chr.8:143904439 - 144519234 on Build GRCh38	Gain+Loss	MIR6848 RECQL4 PPP1R16A PARP10 MIR1234 DGAT1 SCX VPS28 EXOSC4 MFSD3 BOP1 MIR7112 MROH1 CPSF1 LOC101928902 OPLAH WDR97 SLC39A4 MIR6893 ADCK5 PLEC TONSL MIR661 HSF1 MIR6849 HGH1 FOXH1 TMEM249 LOC101928953 SMPD5 KIFC2 CYC1 SPATC1 SLC52A2 MAF1 GPT SCRT1 MIR6846 SHARPIN FBXL6 MIR6847 TONSL-AS1 MIR939 GRINA CYHR1 LRRC14 GPAA1
nsv612940	Chr.8:144436292 - 144613673 on Build GRCh38	Loss	ARHGAP39 FOXH1 C8orf82 RECQL4 LOC101928953 PPP1R16A KIFC2 LRRC24 GPT MFSD3 TONSL-AS1 TONSL CYHR1 LRRC14
dgv12439n54	Chr.8:144438306 - 144525122 on Build GRCh38	Loss	MFSD3 FOXH1 RECQL4 LOC101928953 PPP1R16A TONSL-AS1 KIFC2 TONSL LRRC24 CYHR1 LRRC14 GPT
nsv428208	Chr.8:144041826 - 144722291 on Build GRCh38	Gain	MIR6848 C8orf82 RECQL4 PPP1R16A MIR1234 DGAT1 SCX VPS28 LRRC24 EXOSC4 MFSD3 BOP1 MIR7112 MROH1 CPSF1 LOC101928902 OPLAH WDR97 SLC39A4 MIR6893 ADCK5 TONSL HSF1 MIR6849 ARHGAP39 HGH1 FOXH1 TMEM249 LOC101928953 ZNF251 SMPD5 KIFC2 CYC1 SPATC1 SLC52A2 MAF1 GPT SCRT1 MIR6846 SHARPIN FBXL6 MIR6847 TONSL-AS1 MIR939 CYHR1 LRRC14 GPAA1
esv29999	Chr.8:144456732 - 144525122 on Build GRCh38	Loss	MFSD3 FOXH1 RECQL4 LOC101928953 PPP1R16A KIFC2 LRRC24 CYHR1 LRRC14 GPT

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