GPI glucose-6-phosphate isomerase

Go to:

Information
Clinical Significance
Ranking
Frequency
Disease area statistics
Locus Zoom
Variants
Genome browser

Information

Symbol: GPI
Type: protein-coding
Description: glucose-6-phosphate isomerase
Entrez Gene ID: 2821
Genome: hg19
Position: chr19:34,855,645-34,893,318
Genome: hg38
Position: chr19:34,364,740-34,402,413
MIM: 172400 OMIM
HGNC: HGNC:4458 HGNC
Ensembl: ENSG00000105220 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	10	36
Likely pathogenic	0	18
Benign	8	38
Likely benign	0	70
Conflicting classifications of pathogenicity	0	14
Uncertain significance	0	136

Ranking

	ClinVar
	0
	0
	60
	218
	10

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

Search Word

Target data	:	MGeND data only
Category	:
Search word	:
Filtering	:

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

Search Word

Target data	:	MGeND data only
Category	:
Search word	:
Filtering	:

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	:
Search word	:
Filtering	:

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	AMF
SYNONYM	GNPI
SYNONYM	NLK
SYNONYM	PGI
SYNONYM	PHI
SYNONYM	SA-36
SYNONYM	SA36
MIM	172400 OMIM
HGNC	HGNC:4458 HGNC
Ensembl	ENSG00000105220 Ensembl
AllianceGenome	HGNC:4458

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000588991.7	hg38	chr19	34,364,793	34,400,245	35,453
ENST00000415930.8	hg38	chr19	34,364,740	34,402,413	37,674
ENST00000356487.11	hg38	chr19	34,365,196	34,402,413	37,218
ENST00000356487.11	hg19	chr19	34,856,101	34,893,318	37,218
ENST00000415930.8	hg19	chr19	34,855,645	34,893,318	37,674
ENST00000588991.7	hg19	chr19	34,855,698	34,891,150	35,453

Genome browser