GEMIN4 gem nuclear organelle associated protein 4

Information
Symbol
GEMIN4
Type
protein-coding
Description
gem nuclear organelle associated protein 4
Entrez Gene ID
50628
Genome
hg19
Position
chr17:647,661-655,504
Genome
hg38
Position
chr17:744,421-752,264
MIM
606969 OMIM
HGNC
HGNC:15717 HGNC
Ensembl
ENSG00000179409 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Likely pathogenic 0 2
Benign 0 54
Likely benign 0 80
Conflicting classifications of pathogenicity 0 6
Uncertain significance 0 202
Ranking
ClinVar
0
0
48
288
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
[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 HC56
SYNONYM HCAP1
SYNONYM HHRF-1
SYNONYM NEDMCR
SYNONYM p97
MIM 606969 OMIM
HGNC HGNC:15717 HGNC
Ensembl ENSG00000179409 Ensembl
AllianceGenome HGNC:15717
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000576778.1 hg38 chr17 744,623 749,351 4,729
ENST00000437269.1 hg38 chr17 746,631 752,174 5,544
ENST00000319004.6 hg38 chr17 744,421 752,264 7,844
ENST00000319004.6 hg19 chr17 647,661 655,504 7,844
ENST00000576778.1 hg19 chr17 647,863 652,591 4,729
ENST00000437269.1 hg19 chr17 649,871 655,414 5,544
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