PLIN1 perilipin 1

Information
Symbol
PLIN1
Type
protein-coding
Description
perilipin 1
Entrez Gene ID
5346
Genome
hg19
Position
chr15:90,207,598-90,222,598
Genome
hg38
Position
chr15:89,664,367-89,679,367
MIM
170290 OMIM
HGNC
HGNC:9076 HGNC
Ensembl
ENSG00000166819 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 10
Likely pathogenic 0 4
Benign 0 62
Likely benign 0 48
Conflicting classifications of pathogenicity 0 4
Uncertain significance 0 96
Ranking
ClinVar
0
0
32
168
12
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 FPLD4
SYNONYM PERI
SYNONYM PLIN
MIM 170290 OMIM
HGNC HGNC:9076 HGNC
Ensembl ENSG00000166819 Ensembl
AllianceGenome HGNC:9076
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000430628.2 hg38 chr15 89,664,372 89,679,427 15,056
ENST00000300055.10 hg38 chr15 89,664,367 89,679,367 15,001
ENST00000300055.10 hg19 chr15 90,207,598 90,222,598 15,001
ENST00000430628.2 hg19 chr15 90,207,603 90,222,658 15,056
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