CEP57 centrosomal protein 57

Information
Symbol
CEP57
Type
protein-coding
Description
centrosomal protein 57
Entrez Gene ID
9702
Genome
hg19
Position
chr11:95,523,662-95,565,857
Genome
hg38
Position
chr11:95,790,498-95,832,693
MIM
607951 OMIM
HGNC
HGNC:30794 HGNC
Ensembl
ENSG00000166037 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 18
Likely pathogenic 0 8
Benign 0 22
Likely benign 0 268
Conflicting classifications of pathogenicity 0 14
not provided 7 0
Uncertain significance 1 532
Ranking
ClinVar
0
0
76
768
2
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
Entry Origin Type Annotation Entry Origin Annotation
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
Entry Origin Type Annotation
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
Entry Origin Type Annotation
TypeID
SYNONYM MVA2
SYNONYM PIG8
SYNONYM TSP57
MIM 607951 OMIM
HGNC HGNC:30794 HGNC
Ensembl ENSG00000166037 Ensembl
AllianceGenome HGNC:30794
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000325486.9 hg38 chr11 95,790,461 95,832,691 42,231
ENST00000541150.5 hg38 chr11 95,795,542 95,832,691 37,150
ENST00000538658.5 hg38 chr11 95,790,659 95,823,215 32,557
ENST00000537677.5 hg38 chr11 95,789,965 95,831,267 41,303
ENST00000325542.10 hg38 chr11 95,790,498 95,832,693 42,196
ENST00000537677.5 hg19 chr11 95,523,129 95,564,431 41,303
ENST00000325486.9 hg19 chr11 95,523,625 95,565,855 42,231
ENST00000325542.10 hg19 chr11 95,523,662 95,565,857 42,196
ENST00000538658.5 hg19 chr11 95,523,823 95,556,379 32,557
ENST00000541150.5 hg19 chr11 95,528,706 95,565,855 37,150
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