GPRASP2 G protein-coupled receptor associated sorting protein 2

Information
Symbol
GPRASP2
Type
protein-coding
Description
G protein-coupled receptor associated sorting protein 2
Entrez Gene ID
114928
Genome
hg19
Position
chrX:101,967,373-101,972,660
Genome
hg38
Position
chrX:102,712,445-102,717,732
MIM
300969 OMIM
HGNC
HGNC:25169 HGNC
Ensembl
ENSG00000158301 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Likely pathogenic 0 2
Benign 0 18
Likely benign 0 28
Conflicting classifications of pathogenicity 0 6
not provided 6 0
Uncertain significance 0 62
Ranking
ClinVar
0
0
12
96
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
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 DFNX7
SYNONYM GASP2
MIM 300969 OMIM
HGNC HGNC:25169 HGNC
Ensembl ENSG00000158301 Ensembl
AllianceGenome HGNC:25169
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000543253.6 hg38 chrX 102,712,445 102,717,732 5,288
ENST00000483720.7 hg38 chrX 102,712,448 102,717,733 5,286
ENST00000486814.2 hg38 chrX 102,712,445 102,717,731 5,287
ENST00000535209.6 hg38 chrX 102,712,445 102,717,732 5,288
ENST00000332262.10 hg38 chrX 102,712,445 102,717,733 5,289
ENST00000486814.2 hg19 chrX 101,967,373 101,972,659 5,287
ENST00000535209.6 hg19 chrX 101,967,373 101,972,660 5,288
ENST00000543253.6 hg19 chrX 101,967,373 101,972,660 5,288
ENST00000332262.10 hg19 chrX 101,967,373 101,972,661 5,289
ENST00000483720.7 hg19 chrX 101,967,376 101,972,661 5,286
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