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

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