CDK2AP1 cyclin dependent kinase 2 associated protein 1

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Variants
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Information

Symbol: CDK2AP1
Type: protein-coding
Description: cyclin dependent kinase 2 associated protein 1
Entrez Gene ID: 8099
Genome: hg19
Position: chr12:123,745,523-123,756,403
Genome: hg38
Position: chr12:123,260,976-123,271,856
MIM: 602198 OMIM
HGNC: HGNC:14002 HGNC
Ensembl: ENSG00000111328 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Benign	0	4
Uncertain significance	0	6

Ranking

	ClinVar
	0
	0
	0
	10
	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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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

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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	DOC1
SYNONYM	DORC1
SYNONYM	ST19
SYNONYM	doc-1
SYNONYM	p12DOC-1
MIM	602198 OMIM
HGNC	HGNC:14002 HGNC
Ensembl	ENSG00000111328 Ensembl
AllianceGenome	HGNC:14002

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000538446.5	hg38	chr12	123,261,003	123,269,239	8,237
ENST00000261692.7	hg38	chr12	123,260,976	123,271,856	10,881
ENST00000544658.5	hg38	chr12	123,261,276	123,272,334	11,059
ENST00000542174.5	hg38	chr12	123,261,012	123,268,077	7,066
ENST00000618072.4	hg38	chr12	123,260,971	123,268,254	7,284
ENST00000535979.5	hg38	chr12	123,261,003	123,271,141	10,139
ENST00000618072.4	hg19	chr12	123,745,518	123,752,801	7,284
ENST00000261692.7	hg19	chr12	123,745,523	123,756,403	10,881
ENST00000538446.5	hg19	chr12	123,745,550	123,753,786	8,237
ENST00000535979.5	hg19	chr12	123,745,550	123,755,688	10,139
ENST00000542174.5	hg19	chr12	123,745,559	123,752,624	7,066
ENST00000544658.5	hg19	chr12	123,745,823	123,756,881	11,059

Key	Value
strand	-
UniProt	TSG
start	123,745,516
Gene Symbol	CDK2AP1
Entrez GeneId	8,099
Chr Band	12q24.31
end	123,756,862
chr	chr12

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