CHPF chondroitin polymerizing factor

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: CHPF
Type: protein-coding
Description: chondroitin polymerizing factor
Entrez Gene ID: 79586
Genome: hg19
Position: chr2:220,403,676-220,408,531
Genome: hg38
Position: chr2:219,538,954-219,543,809
MIM: 610405 OMIM
HGNC: HGNC:24291 HGNC
Ensembl: ENSG00000123989 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Benign	0	4
Likely benign	0	4
Uncertain significance	0	100

Ranking

	ClinVar
	0
	0
	0
	108
	0

Frequency

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

Disease area statistics

[No Data.]

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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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
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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	CHPF1
SYNONYM	CHSY2
SYNONYM	CSS2
MIM	610405 OMIM
HGNC	HGNC:24291 HGNC
Ensembl	ENSG00000123989 Ensembl
AllianceGenome	HGNC:24291

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000535926.3	hg38	chr2	219,539,372	219,543,097	3,726
ENST00000373891.3	hg38	chr2	219,541,460	219,543,538	2,079
ENST00000243776.11	hg38	chr2	219,538,954	219,543,809	4,856
ENST00000691864.1	hg38	chr2	219,538,978	219,543,595	4,618
ENST00000243776.11	hg19	chr2	220,403,676	220,408,531	4,856
ENST00000691864.1	hg19	chr2	220,403,700	220,408,317	4,618
ENST00000535926.3	hg19	chr2	220,404,094	220,407,819	3,726
ENST00000373891.3	hg19	chr2	220,406,182	220,408,260	2,079

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