PGAP1 post-GPI attachment to proteins inositol deacylase 1

Information
Symbol
PGAP1
Type
protein-coding
Description
post-GPI attachment to proteins inositol deacylase 1
Entrez Gene ID
80055
Genome
hg19
Position
chr2:197,697,728-197,791,431
Genome
hg38
Position
chr2:196,833,004-196,926,707
MIM
611655 OMIM
HGNC
HGNC:25712 HGNC
Ensembl
ENSG00000197121 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 6 48
Likely pathogenic 0 38
Benign 0 102
Likely benign 0 222
Conflicting classifications of pathogenicity 0 28
Uncertain significance 0 308
Ranking
ClinVar
0
0
82
606
10
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 Bst1
SYNONYM ISPD3024
SYNONYM MRT42
SYNONYM NEDDSBA
SYNONYM SPG67
MIM 611655 OMIM
HGNC HGNC:25712 HGNC
Ensembl ENSG00000197121 Ensembl
AllianceGenome HGNC:25712
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000409475.5 hg38 chr2 196,847,476 196,926,730 79,255
ENST00000409188.5 hg38 chr2 196,885,453 196,927,795 42,343
ENST00000354764.9 hg38 chr2 196,833,004 196,926,707 93,704
ENST00000354764.9 hg19 chr2 197,697,728 197,791,431 93,704
ENST00000409475.5 hg19 chr2 197,712,200 197,791,454 79,255
ENST00000409188.5 hg19 chr2 197,750,177 197,792,519 42,343
Genome browser