PYM1 PYM homolog 1, exon junction complex associated factor

Information
Symbol
PYM1
Type
protein-coding
Description
PYM homolog 1, exon junction complex associated factor
Entrez Gene ID
84305
Genome
hg19
Position
chr12:56,295,197-56,321,678
Genome
hg38
Position
chr12:55,901,413-55,927,894
MIM
619753 OMIM
HGNC
HGNC:30258 HGNC
Ensembl
ENSG00000170473 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Uncertain significance 0 14
Ranking
ClinVar
0
0
0
14
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
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 PYM
SYNONYM WIBG
MIM 619753 OMIM
HGNC HGNC:30258 HGNC
Ensembl ENSG00000170473 Ensembl
AllianceGenome HGNC:30258
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000408946.7 hg38 chr12 55,901,413 55,927,894 26,482
ENST00000454792.2 hg38 chr12 55,913,826 55,927,875 14,050
ENST00000398213.4 hg38 chr12 55,901,414 55,927,112 25,699
ENST00000408946.7 hg19 chr12 56,295,197 56,321,678 26,482
ENST00000398213.4 hg19 chr12 56,295,198 56,320,896 25,699
ENST00000454792.2 hg19 chr12 56,307,610 56,321,659 14,050
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