GPAA1 glycosylphosphatidylinositol anchor attachment 1

Information
Symbol
GPAA1
Type
protein-coding
Description
glycosylphosphatidylinositol anchor attachment 1
Entrez Gene ID
8733
Genome
hg19
Position
chr8:145,137,537-145,141,119
Genome
hg38
Position
chr8:144,082,634-144,086,216
MIM
603048 OMIM
HGNC
HGNC:4446 HGNC
Ensembl
ENSG00000197858 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 38
Likely pathogenic 0 40
Benign 0 40
Likely benign 0 466
Conflicting classifications of pathogenicity 0 18
Uncertain significance 0 460
Ranking
ClinVar
0
0
108
920
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 :
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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 GAA1
SYNONYM GPIBD15
SYNONYM hGAA1
MIM 603048 OMIM
HGNC HGNC:4446 HGNC
Ensembl ENSG00000197858 Ensembl
AllianceGenome HGNC:4446
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000704809.1 hg38 chr8 144,082,640 144,086,212 3,573
ENST00000704807.1 hg38 chr8 144,082,634 144,086,214 3,581
ENST00000704806.1 hg38 chr8 144,082,622 144,086,216 3,595
ENST00000703633.1 hg38 chr8 144,082,655 144,086,216 3,562
ENST00000703620.1 hg38 chr8 144,082,616 144,086,216 3,601
ENST00000703621.1 hg38 chr8 144,082,610 144,086,216 3,607
ENST00000703622.1 hg38 chr8 144,082,598 144,086,216 3,619
ENST00000703649.1 hg38 chr8 144,082,657 144,093,149 10,493
ENST00000703648.1 hg38 chr8 144,082,596 144,086,212 3,617
ENST00000704794.1 hg38 chr8 144,082,638 144,086,216 3,579
ENST00000524418.6 hg38 chr8 144,082,653 144,086,216 3,564
ENST00000704789.1 hg38 chr8 144,082,634 144,086,216 3,583
ENST00000355091.9 hg38 chr8 144,082,634 144,086,216 3,583
ENST00000361036.11 hg38 chr8 144,082,589 144,086,216 3,628
ENST00000361036.11 hg19 chr8 145,137,492 145,141,119 3,628
ENST00000355091.9 hg19 chr8 145,137,537 145,141,119 3,583
ENST00000524418.6 hg19 chr8 145,137,556 145,141,119 3,564
ENST00000703648.1 hg19 chr8 145,137,499 145,141,115 3,617
ENST00000703622.1 hg19 chr8 145,137,501 145,141,119 3,619
ENST00000703621.1 hg19 chr8 145,137,513 145,141,119 3,607
ENST00000703620.1 hg19 chr8 145,137,519 145,141,119 3,601
ENST00000704806.1 hg19 chr8 145,137,525 145,141,119 3,595
ENST00000704807.1 hg19 chr8 145,137,537 145,141,117 3,581
ENST00000704789.1 hg19 chr8 145,137,537 145,141,119 3,583
ENST00000704794.1 hg19 chr8 145,137,541 145,141,119 3,579
ENST00000704809.1 hg19 chr8 145,137,543 145,141,115 3,573
ENST00000703633.1 hg19 chr8 145,137,558 145,141,119 3,562
ENST00000703649.1 hg19 chr8 145,137,560 145,148,052 10,493
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