Hs01527609_cn

• Gene Symbol: GLI1
• Assay Reference Genome Location: Chr.12:57464788 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: Within Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GLI1	NM_001160045.1	2	183	NP_001153517.1
	NM_001167609.1	3	264	NP_001161081.1
	NM_005269.2	4	387	NP_005260.1
	XM_011538189.2	4	633	XP_011536491.1
	XM_011538190.1	4	400	XP_011536492.1
	AK297899.1	2	183
	BC013000.2	3	347	AAH13000.1
	GQ890670.2	2	186
	X07384.1	4	387	CAA30297.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv952190	Chr.12:57459418 - 57466117 on Build GRCh38	Deletion	GLI1
nsv428283	Chr.12:57435950 - 57608085 on Build GRCh38	Gain	MIR6758 ARHGAP9 MBD6 PIP4K2C DDIT3 DCTN2 MARS GLI1 INHBE KIF5A INHBC MIR616 DTX3
nsv469411	Chr.12:57450266 - 57527405 on Build GRCh38	Loss	MIR6758 MARS ARHGAP9 GLI1 MBD6 INHBE INHBC MIR616 DDIT3
nsv482992	Chr.12:56206217 - 57706217 on Build GRCh38	Gain+Loss	LRP1-AS STAT2 ARHGAP9 NEMP1 NDUFA4L2 RDH16 SPRYD4 SNORD59B DCTN2 B4GALNT1 DTX3 MIP NAB2 SLC39A5 STAT6 OS9 APOF PTGES3 NACA MIR1228 STAC3 LRP1 PIP4K2C GLS2 MARS GPR182 CNPY2 BAZ2A MYO1A ANKRD52 CS INHBC SLC26A10 ARHGEF25 RNF41 MIR6758 SHMT2 PRIM1 TAC3 MBD6 R3HDM2 COQ10A DDIT3 SDR9C7 ZBTB39 GLI1 INHBE RBMS2 MIR616 HBCBP SNORA105C IL23A ATP5B PAN2 SNORD59A HSD17B6 LOC101927583 NXPH4 TIMELESS KIF5A NABP2
nsv8974	Chr.12:57458996 - 57472098 on Build GRCh38	Gain	GLI1

More Information

• Set Membership: Intragenic, 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