OSGEPL1 O-sialoglycoprotein endopeptidase like 1
Information
- Symbol
- OSGEPL1
- Type
- protein-coding
- Description
- O-sialoglycoprotein endopeptidase like 1
- Entrez Gene ID
- 64172
- Genome
- hg19
- Position
- chr2:190,611,386-190,627,518
- Genome
- hg38
- Position
- chr2:189,746,660-189,762,792
- MIM
- 619634 OMIM
- HGNC
- HGNC:23075 HGNC
- Ensembl
- ENSG00000128694 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 4 |
| Likely benign | 0 | 2 |
| Uncertain significance | 0 | 36 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
40 |
 |
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
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| Category | : |
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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
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| 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
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| Category | : |
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| 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 | OSGEPL |
| SYNONYM | Qri7 |
| MIM | 619634 OMIM |
| HGNC | HGNC:23075 HGNC |
| Ensembl | ENSG00000128694 Ensembl |
| AllianceGenome | HGNC:23075 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000264151.10 | hg38 | chr2 | 189,746,660 | 189,762,792 | 16,133 |
| ENST00000519810.5 | hg38 | chr2 | 189,746,660 | 189,763,227 | 16,568 |
| ENST00000522700.5 | hg38 | chr2 | 189,750,578 | 189,763,198 | 12,621 |
| ENST00000264151.10 | hg19 | chr2 | 190,611,386 | 190,627,518 | 16,133 |
| ENST00000519810.5 | hg19 | chr2 | 190,611,386 | 190,627,953 | 16,568 |
| ENST00000522700.5 | hg19 | chr2 | 190,615,304 | 190,627,924 | 12,621 |
| Key | Value |
|---|---|
| strand | - |
| start | 190,611,385 |
| Gene Symbol | OSGEPL1 |
| Entrez GeneId | 64,172 |
| Chr Band | 2q32.2 |
| end | 190,627,923 |
| chr | chr2 |
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