Hs01392190_cn

• Gene Symbol: FOXH1
• Assay Reference Genome Location: Chr.8:144475625 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 1 - Exon 1

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

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