GPN1 GPN-loop GTPase 1

Information
Symbol
GPN1
Type
protein-coding
Description
GPN-loop GTPase 1
Entrez Gene ID
11321
Genome
hg19
Position
chr2:27,851,917-27,874,378
Genome
hg38
Position
chr2:27,629,050-27,651,511
MIM
611479 OMIM
HGNC
HGNC:17030 HGNC
Ensembl
ENSG00000198522 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 4
Uncertain significance 0 38
Ranking
ClinVar
0
0
0
42
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 ATPBD1A
SYNONYM MBDIN
SYNONYM NTPBP
SYNONYM RPAP4
SYNONYM XAB1
MIM 611479 OMIM
HGNC HGNC:17030 HGNC
Ensembl ENSG00000198522 Ensembl
AllianceGenome HGNC:17030
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000503738.5 hg38 chr2 27,628,648 27,650,209 21,562
ENST00000515877.5 hg38 chr2 27,628,247 27,650,363 22,117
ENST00000407583.7 hg38 chr2 27,628,658 27,650,456 21,799
ENST00000424214.5 hg38 chr2 27,628,648 27,650,844 22,197
ENST00000616939.4 hg38 chr2 27,628,996 27,650,844 21,849
ENST00000264718.7 hg38 chr2 27,628,996 27,651,508 22,513
ENST00000610189.2 hg38 chr2 27,629,050 27,651,511 22,462
ENST00000458167.6 hg38 chr2 27,628,648 27,650,844 22,197
ENST00000515877.5 hg19 chr2 27,851,114 27,873,230 22,117
ENST00000503738.5 hg19 chr2 27,851,515 27,873,076 21,562
ENST00000424214.5 hg19 chr2 27,851,515 27,873,711 22,197
ENST00000458167.6 hg19 chr2 27,851,515 27,873,711 22,197
ENST00000407583.7 hg19 chr2 27,851,525 27,873,323 21,799
ENST00000616939.4 hg19 chr2 27,851,863 27,873,711 21,849
ENST00000264718.7 hg19 chr2 27,851,863 27,874,375 22,513
ENST00000610189.2 hg19 chr2 27,851,917 27,874,378 22,462
Genome browser