Hs02900185_cn

• Gene Symbol: GLI1
• Assay Reference Genome Location: Chr.12:57467312 on build GRCh38
• Cytoband: 12q13.3

Target Gene Details

• Entrez Gene ID: 2735
• Gene Name: GLI family zinc finger 1
• Gene Aliases: GLI
• Location: Chr.12:57460135-57472268 on Build GRCh38
• Assay Gene Location: Overlaps Intron 9 - Exon 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GLI1	NM_001160045.1			NP_001153517.1
	NM_001167609.1			NP_001161081.1
	NM_005269.2			NP_005260.1
	XM_011538189.2			XP_011536491.1
	XM_011538190.1			XP_011536492.1
	AK297899.1
	BC013000.2			AAH13000.1
	GQ890670.2
	X07384.1			CAA30297.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv2759901	Chr.12:57435950 - 57608085 on Build GRCh38	Gain	INHBE KIF5A MIR6758 MBD6 DTX3 DDIT3 DCTN2 GLI1 ARHGAP9 INHBC MIR616 PIP4K2C MARS
nsv559034	Chr.12:57466149 - 57618450 on Build GRCh38	Loss	KIF5A MIR6758 MBD6 DTX3 DDIT3 DCTN2 GLI1 LOC101927583 ARHGAP9 MIR616 PIP4K2C ARHGEF25 MARS
dgv2651n54	Chr.12:57450266 - 57552694 on Build GRCh38	Loss	INHBE KIF5A ARHGAP9 MIR6758 INHBC MBD6 DDIT3 MIR616 DCTN2 MARS GLI1
nsv482992	Chr.12:56206217 - 57706217 on Build GRCh38	Gain+Loss	LRP1 RNF41 MYO1A MIR6758 NXPH4 PAN2 NACA MIP STAT6 GPR182 SDR9C7 PIP4K2C PTGES3 NEMP1 CS SNORA105C DTX3 NAB2 PRIM1 SLC39A5 GLI1 R3HDM2 APOF B4GALNT1 HSD17B6 MIR616 SNORD59B RDH16 MIR1228 MARS LRP1-AS INHBE DDIT3 IL23A ATP5B ZBTB39 COQ10A TAC3 SNORD59A GLS2 LOC101927583 SPRYD4 ARHGAP9 BAZ2A OS9 ARHGEF25 KIF5A NABP2 CNPY2 MBD6 SLC26A10 SHMT2 TIMELESS DCTN2 STAC3 INHBC NDUFA4L2 STAT2 HBCBP ANKRD52 RBMS2
nsv559035	Chr.12:57467189 - 57476865 on Build GRCh38	Loss	ARHGAP9 GLI1
nsv8974	Chr.12:57458996 - 57472098 on Build GRCh38	Gain	GLI1

More Information

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

Panther Classification:

Molecular Function -

DNA-binding transcription factor

Gene Ontology Categories:

Process(es)

osteoblast differentiation
transcription, DNA-templated
smoothened signaling pathway
spermatogenesis
ventral midline development
positive regulation of cell proliferation
regulation of smoothened signaling pathway
response to wounding
epidermal cell differentiation
dorsal/ventral pattern formation
proximal/distal pattern formation
cerebellar cortex morphogenesis
smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation
pituitary gland development
lung development
regulation of osteoblast differentiation
positive regulation of DNA replication
positive regulation of smoothened signaling pathway
positive regulation of transcription, DNA-templated
positive regulation of transcription from RNA polymerase II promoter
digestive tract morphogenesis
notochord regression
canonical Wnt signaling pathway
negative regulation of canonical Wnt signaling pathway
liver regeneration
regulation of hepatocyte proliferation

Function(s)

RNA polymerase II regulatory region sequence-specific DNA binding
RNA polymerase II core promoter proximal region sequence-specific DNA binding
DNA binding
chromatin binding
transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding
protein binding
microtubule binding
transcription regulatory region DNA binding
metal ion binding