PGPEP1 pyroglutamyl-peptidase I
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Uncertain significance | 0 | 28 |
Ranking
ClinVar | |
---|---|
![]() |
0 |
![]() |
0 |
![]() |
0 |
![]() |
26 |
![]() |
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 | : | |
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 |
Type | ID |
---|---|
SYNONYM | PAP-I |
SYNONYM | PGI |
SYNONYM | PGP |
SYNONYM | PGP-I |
SYNONYM | PGPI |
SYNONYM | Pcp |
MIM | 610694 OMIM |
HGNC | HGNC:13568 HGNC |
Ensembl | ENSG00000130517 Ensembl |
AllianceGenome | HGNC:13568 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000252813.5 | hg38 | chr19 | 18,340,609 | 18,364,342 | 23,734 |
ENST00000597431.2 | hg38 | chr19 | 18,340,639 | 18,363,688 | 23,050 |
ENST00000269919.11 | hg38 | chr19 | 18,340,598 | 18,369,950 | 29,353 |
ENST00000595066.5 | hg38 | chr19 | 18,340,599 | 18,357,857 | 17,259 |
ENST00000604499.6 | hg38 | chr19 | 18,340,598 | 18,363,678 | 23,081 |
ENST00000604499.6 | hg19 | chr19 | 18,451,408 | 18,474,488 | 23,081 |
ENST00000269919.11 | hg19 | chr19 | 18,451,408 | 18,480,760 | 29,353 |
ENST00000595066.5 | hg19 | chr19 | 18,451,409 | 18,468,667 | 17,259 |
ENST00000252813.5 | hg19 | chr19 | 18,451,419 | 18,475,152 | 23,734 |
ENST00000597431.2 | hg19 | chr19 | 18,451,449 | 18,474,498 | 23,050 |
Genome browser