CEP131 centrosomal protein 131

Go to:

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

Information

Symbol: CEP131
Type: protein-coding
Description: centrosomal protein 131
Entrez Gene ID: 22994
Genome: hg19
Position: chr17:79,163,396-79,196,799
Genome: hg38
Position: chr17:81,189,596-81,222,999
MIM: 613479 OMIM
HGNC: HGNC:29511 HGNC
Ensembl: ENSG00000141577 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Likely benign	0	26
Conflicting classifications of pathogenicity	0	2
Uncertain significance	0	184

Ranking

	ClinVar
	0
	0
	0
	210
	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

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	AZ1
SYNONYM	AZI1
SYNONYM	ZA1
MIM	613479 OMIM
HGNC	HGNC:29511 HGNC
Ensembl	ENSG00000141577 Ensembl
AllianceGenome	HGNC:29511

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000575907.5	hg38	chr17	81,189,648	81,222,930	33,283
ENST00000269392.8	hg38	chr17	81,189,596	81,222,999	33,404
ENST00000374782.7	hg38	chr17	81,189,593	81,222,945	33,353
ENST00000450824.7	hg38	chr17	81,189,596	81,222,965	33,370
ENST00000374782.7	hg19	chr17	79,163,393	79,196,745	33,353
ENST00000450824.7	hg19	chr17	79,163,396	79,196,765	33,370
ENST00000269392.8	hg19	chr17	79,163,396	79,196,799	33,404
ENST00000575907.5	hg19	chr17	79,163,448	79,196,730	33,283

Genome browser