Hs00899866_cn

• Gene Symbol: FOXH1
• Assay Reference Genome Location: Chr.8:144475171 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 Intron 2 - Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
FOXH1	NM_003923.2			NP_003914.1
	AF076292.1			AAC34303.1
	BC065377.1			AAH65377.1

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

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