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
nsv612936	Chr.8:144416180 - 144479830 on Build GRCh38	Loss	SLC39A4 MIR6893 CYHR1 KIFC2 VPS28 PPP1R16A FOXH1 TONSL-AS1 TONSL
nsv470249	Chr.8:143889098 - 144519234 on Build GRCh38	Loss	RECQL4 HGH1 MIR1234 SCX CYHR1 HSF1 MIR7112 GRINA PPP1R16A GPT SHARPIN LOC101928953 MFSD3 GPAA1 MIR661 MIR6846 KIFC2 VPS28 ADCK5 CYC1 LRRC14 MIR6849 TONSL-AS1 MAF1 WDR97 SCRT1 TMEM249 LOC101928902 PLEC CPSF1 DGAT1 BOP1 OPLAH MIR6848 SLC39A4 MIR939 PARP10 MROH1 MIR6893 EXOSC4 SLC52A2 MIR6847 SPATC1 SMPD5 FOXH1 FBXL6 TONSL
dgv12434n54	Chr.8:144270080 - 144516801 on Build GRCh38	Loss	RECQL4 MIR1234 CYHR1 HSF1 PPP1R16A GPT LOC101928953 MFSD3 KIFC2 VPS28 ADCK5 MIR6849 TONSL-AS1 SCRT1 TMEM249 LOC101928902 CPSF1 DGAT1 BOP1 MIR6848 SLC39A4 MIR939 MIR6893 SLC52A2 FOXH1 FBXL6 TONSL
nsv831489	Chr.8:144342140 - 144544026 on Build GRCh38	Loss	RECQL4 MIR1234 CYHR1 PPP1R16A GPT LOC101928953 MFSD3 LRRC24 KIFC2 VPS28 ADCK5 LRRC14 MIR6849 TONSL-AS1 TMEM249 LOC101928902 CPSF1 ARHGAP39 C8orf82 SLC39A4 MIR939 MIR6893 SLC52A2 FOXH1 FBXL6 TONSL
nsv515809	Chr.8:143904439 - 144519234 on Build GRCh38	Gain+Loss	RECQL4 HGH1 MIR1234 SCX CYHR1 HSF1 MIR7112 GRINA PPP1R16A GPT SHARPIN LOC101928953 MFSD3 GPAA1 MIR661 MIR6846 KIFC2 VPS28 ADCK5 CYC1 LRRC14 MIR6849 TONSL-AS1 MAF1 WDR97 SCRT1 TMEM249 LOC101928902 PLEC CPSF1 DGAT1 BOP1 OPLAH MIR6848 SLC39A4 MIR939 PARP10 MROH1 MIR6893 EXOSC4 SLC52A2 MIR6847 SPATC1 SMPD5 FOXH1 FBXL6 TONSL
dgv12440n54	Chr.8:144463603 - 144474259 on Build GRCh38	Loss	CYHR1 KIFC2 FOXH1
nsv612940	Chr.8:144436292 - 144613673 on Build GRCh38	Loss	RECQL4 CYHR1 ARHGAP39 PPP1R16A GPT LOC101928953 MFSD3 C8orf82 LRRC24 KIFC2 FOXH1 LRRC14 TONSL-AS1 TONSL
dgv12439n54	Chr.8:144438306 - 144525122 on Build GRCh38	Loss	RECQL4 LRRC24 CYHR1 KIFC2 PPP1R16A GPT LOC101928953 FOXH1 LRRC14 TONSL-AS1 TONSL MFSD3
nsv428208	Chr.8:144041826 - 144722291 on Build GRCh38	Gain	RECQL4 HGH1 MIR1234 SCX CYHR1 HSF1 MIR7112 PPP1R16A GPT SHARPIN LOC101928953 MFSD3 GPAA1 LRRC24 MIR6846 KIFC2 VPS28 ADCK5 CYC1 LRRC14 MIR6849 ZNF251 TONSL-AS1 MAF1 WDR97 SCRT1 TMEM249 LOC101928902 CPSF1 DGAT1 ARHGAP39 BOP1 OPLAH MIR6848 C8orf82 SLC39A4 MIR939 MROH1 MIR6893 EXOSC4 SLC52A2 MIR6847 SPATC1 SMPD5 FOXH1 FBXL6 TONSL
esv29999	Chr.8:144456732 - 144525122 on Build GRCh38	Loss	RECQL4 LRRC24 CYHR1 KIFC2 PPP1R16A GPT LOC101928953 FOXH1 LRRC14 MFSD3

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