Hs00850109_cn

• Gene Symbol: FOXH1
• Assay Reference Genome Location: Chr.8:144473729 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 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
FOXH1	NM_003923.2			NP_003914.1
	BC065377.1			AAH65377.1
	BE550635.1

Target Gene Details

• Entrez Gene ID: 90990
• Gene Name: kinesin family member C2
• Gene Aliases: -
• Location: Chr.8:144466246-144474116 on Build GRCh38
• Assay Gene Location: Within Exon 18

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
KIFC2	NM_145754.3	17	2879	NP_665697.1
	XM_005272357.3	18	2889	XP_005272414.1
	AK055045.1	13	1972	BAB70844.1
	AY007121.1	1	1141
	BC015171.2	1	1156	AAH15171.1
	BC017311.2	18	2861	AAH17311.1

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	GPT LOC101928953 VPS28 RECQL4 FOXH1 TONSL LRRC24 CYHR1 SLC39A4 MFSD3 MIR6893 TONSL-AS1 KIFC2 PPP1R16A LRRC14
dgv12434n54	Chr.8:144270080 - 144516801 on Build GRCh38	Loss	TMEM249 GPT ADCK5 VPS28 RECQL4 FBXL6 TONSL MIR1234 MIR939 CYHR1 SLC39A4 MIR6849 MIR6893 SLC52A2 TONSL-AS1 DGAT1 KIFC2 SCRT1 PPP1R16A HSF1 LOC101928953 CPSF1 FOXH1 MFSD3 MIR6848 BOP1 LOC101928902
nsv470249	Chr.8:143889098 - 144519234 on Build GRCh38	Loss	TMEM249 GPT ADCK5 VPS28 MIR6847 MIR6846 SHARPIN SPATC1 RECQL4 FBXL6 TONSL MIR1234 MIR939 WDR97 CYHR1 SLC39A4 SMPD5 MROH1 MIR6849 MIR6893 SLC52A2 OPLAH CYC1 GRINA TONSL-AS1 DGAT1 KIFC2 SCRT1 PPP1R16A HSF1 LRRC14 LOC101928953 SCX CPSF1 FOXH1 HGH1 MIR661 MFSD3 PARP10 EXOSC4 MAF1 MIR6848 BOP1 GPAA1 PLEC MIR7112 LOC101928902
nsv831489	Chr.8:144342140 - 144544026 on Build GRCh38	Loss	TMEM249 GPT ADCK5 VPS28 RECQL4 FBXL6 TONSL MIR1234 MIR939 LRRC24 CYHR1 SLC39A4 MIR6849 MIR6893 SLC52A2 TONSL-AS1 KIFC2 PPP1R16A LRRC14 ARHGAP39 LOC101928953 C8orf82 CPSF1 FOXH1 MFSD3 LOC101928902
nsv515809	Chr.8:143904439 - 144519234 on Build GRCh38	Gain+Loss	TMEM249 GPT ADCK5 VPS28 MIR6847 MIR6846 SHARPIN SPATC1 RECQL4 FBXL6 TONSL MIR1234 MIR939 WDR97 CYHR1 SLC39A4 SMPD5 MROH1 MIR6849 MIR6893 SLC52A2 OPLAH CYC1 GRINA TONSL-AS1 DGAT1 KIFC2 SCRT1 PPP1R16A HSF1 LRRC14 LOC101928953 SCX CPSF1 FOXH1 HGH1 MIR661 MFSD3 PARP10 EXOSC4 MAF1 MIR6848 BOP1 GPAA1 PLEC MIR7112 LOC101928902
dgv12440n54	Chr.8:144463603 - 144474259 on Build GRCh38	Loss	FOXH1 KIFC2 CYHR1
dgv12439n54	Chr.8:144438306 - 144525122 on Build GRCh38	Loss	MFSD3 GPT LOC101928953 RECQL4 FOXH1 TONSL-AS1 TONSL KIFC2 LRRC24 PPP1R16A CYHR1 LRRC14
nsv612940	Chr.8:144436292 - 144613673 on Build GRCh38	Loss	ARHGAP39 GPT LOC101928953 C8orf82 RECQL4 FOXH1 TONSL LRRC24 CYHR1 MFSD3 TONSL-AS1 KIFC2 PPP1R16A LRRC14
nsv428208	Chr.8:144041826 - 144722291 on Build GRCh38	Gain	TMEM249 GPT ADCK5 VPS28 MIR6847 MIR6846 SHARPIN SPATC1 RECQL4 FBXL6 TONSL MIR1234 MIR939 LRRC24 WDR97 CYHR1 SLC39A4 SMPD5 MROH1 MIR6849 MIR6893 SLC52A2 OPLAH CYC1 TONSL-AS1 DGAT1 KIFC2 SCRT1 PPP1R16A HSF1 LRRC14 ARHGAP39 LOC101928953 SCX C8orf82 CPSF1 FOXH1 HGH1 ZNF251 MFSD3 EXOSC4 MAF1 MIR6848 BOP1 GPAA1 MIR7112 LOC101928902
esv29999	Chr.8:144456732 - 144525122 on Build GRCh38	Loss	MFSD3 GPT LOC101928953 RECQL4 FOXH1 KIFC2 LRRC24 PPP1R16A CYHR1 LRRC14

More Information

• Set Membership: Intragenic, Exonic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

microtubule binding motor protein

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
microtubule-based movement

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
microtubule motor activity
ATP binding
microtubule binding
ATPase activity