GLI1 GLI family zinc finger 1

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: GLI1
Type: protein-coding
Description: GLI family zinc finger 1
Entrez Gene ID: 2735
Genome: hg19
Position: chr12:57,853,568-57,866,051
Genome: hg38
Position: chr12:57,459,785-57,472,268
MIM: 165220 OMIM
HGNC: HGNC:4317 HGNC
Ensembl: ENSG00000111087 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	8
Likely pathogenic	0	8
Benign	0	24
Likely benign	0	42
Conflicting classifications of pathogenicity	0	2
not provided	22	0
Uncertain significance	0	118

Ranking

	ClinVar
	0
	0
	30
	160
	8

Frequency

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

Disease area statistics

Locus Zoom

Variants

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Target data	:	MGeND data only
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Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	MGeND				Genome	ClinVar			CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction
Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	Entry	Origin	Type	Annotation	Genome	Entry	Origin	Annotation	CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction

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Target data	:	MGeND data only
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Name	MGeND				Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Search Word

Target data	:	MGeND data only
Category	:
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Name	MGeND				Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Type	ID
SYNONYM	GLI
SYNONYM	PAPA8
SYNONYM	PPD1
MIM	165220 OMIM
HGNC	HGNC:4317 HGNC
Ensembl	ENSG00000111087 Ensembl
AllianceGenome	HGNC:4317

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000546141.5	hg38	chr12	57,460,151	57,472,260	12,110
ENST00000228682.7	hg38	chr12	57,459,785	57,472,268	12,484
ENST00000543426.5	hg38	chr12	57,460,135	57,472,260	12,126
ENST00000228682.7	hg19	chr12	57,853,568	57,866,051	12,484
ENST00000543426.5	hg19	chr12	57,853,918	57,866,043	12,126
ENST00000546141.5	hg19	chr12	57,853,934	57,866,043	12,110

Key	Value
strand	+
UniProt	OG
start	57,853,917
Gene Symbol	GLI1
Entrez GeneId	2,735
Chr Band	12q13.3
end	57,866,046
chr	chr12

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