NUMA1 nuclear mitotic apparatus protein 1

Information
Symbol
NUMA1
Type
protein-coding
Description
nuclear mitotic apparatus protein 1
Entrez Gene ID
4926
Genome
hg19
Position
chr11:71,713,910-71,791,588
Genome
hg38
Position
chr11:72,002,864-72,080,542
MIM
164009 OMIM
HGNC
HGNC:8059 HGNC
Ensembl
ENSG00000137497 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Benign 0 34
Likely benign 0 60
Conflicting classifications of pathogenicity 0 4
Uncertain significance 0 252
Ranking
ClinVar
0
0
20
318
4
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
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 NMP-22
SYNONYM NUMA
MIM 164009 OMIM
HGNC HGNC:8059 HGNC
Ensembl ENSG00000137497 Ensembl
AllianceGenome HGNC:8059
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000613205.4 hg38 chr11 72,002,865 72,080,693 77,829
ENST00000351960.10 hg38 chr11 72,002,864 72,080,389 77,526
ENST00000620566.4 hg38 chr11 72,002,865 72,035,987 33,123
ENST00000358965.10 hg38 chr11 72,002,864 72,080,515 77,652
ENST00000393695.8 hg38 chr11 72,002,864 72,080,542 77,679
ENST00000351960.10 hg19 chr11 71,713,910 71,791,435 77,526
ENST00000358965.10 hg19 chr11 71,713,910 71,791,561 77,652
ENST00000393695.8 hg19 chr11 71,713,910 71,791,588 77,679
ENST00000613205.4 hg19 chr11 71,713,911 71,791,739 77,829
ENST00000620566.4 hg19 chr11 71,713,911 71,747,033 33,123
KeyValue
strand-
start71,713,909
Gene SymbolNUMA1
Entrez GeneId4,926
Chr Band11q13
end71,791,738
chrchr11
Namenuclear mitotic apparatus protein 1
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