ASPRV1 aspartic peptidase retroviral like 1

Information
Symbol
ASPRV1
Type
protein-coding
Description
aspartic peptidase retroviral like 1
Entrez Gene ID
151516
Genome
hg19
Position
chr2:70,187,221-70,188,763
Genome
hg38
Position
chr2:69,960,089-69,961,631
MIM
611765 OMIM
HGNC
HGNC:26321 HGNC
Ensembl
ENSG00000244617 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 6
Likely benign 0 6
Uncertain significance 0 22
Ranking
ClinVar
0
0
0
28
6
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 ADLI
SYNONYM MUNO
SYNONYM SASP
SYNONYM SASPase
SYNONYM Taps
MIM 611765 OMIM
HGNC HGNC:26321 HGNC
Ensembl ENSG00000244617 Ensembl
AllianceGenome HGNC:26321
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000320256.6 hg38 chr2 69,960,089 69,961,631 1,543
ENST00000320256.6 hg19 chr2 70,187,221 70,188,763 1,543
Genome browser