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