DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
Information
- Symbol
- DPAGT1
- Type
- protein-coding
- Description
- dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
- Entrez Gene ID
- 1798
- Genome
- hg19
- Position
- chr11:118,967,213-118,979,041
- Genome
- hg38
- Position
- chr11:119,096,503-119,108,331
- MIM
- 191350 OMIM
- HGNC
- HGNC:2995 HGNC
- Ensembl
- ENSG00000172269 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 40 |
| Likely pathogenic | 0 | 48 |
| Benign | 0 | 30 |
| Likely benign | 0 | 200 |
| Conflicting classifications of pathogenicity | 0 | 48 |
| Uncertain significance | 0 | 266 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
66 |
 |
478 |
 |
22 |
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 | ALG7 |
| SYNONYM | CDG-Ij |
| SYNONYM | CDG1J |
| SYNONYM | CMS13 |
| SYNONYM | CMSTA2 |
| SYNONYM | D11S366 |
| SYNONYM | DGPT |
| SYNONYM | DPAGT |
| SYNONYM | DPAGT2 |
| SYNONYM | G1PT |
| SYNONYM | GPT |
| SYNONYM | UAGT |
| SYNONYM | UGAT |
| MIM | 191350 OMIM |
| HGNC | HGNC:2995 HGNC |
| Ensembl | ENSG00000172269 Ensembl |
| AllianceGenome | HGNC:2995 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000639704.1 | hg38 | chr11 | 119,096,595 | 119,101,837 | 5,243 |
| ENST00000682791.1 | hg38 | chr11 | 119,096,523 | 119,101,831 | 5,309 |
| ENST00000354202.9 | hg38 | chr11 | 119,096,510 | 119,101,853 | 5,344 |
| ENST00000409993.6 | hg38 | chr11 | 119,096,503 | 119,108,331 | 11,829 |
| ENST00000409993.6 | hg19 | chr11 | 118,967,213 | 118,979,041 | 11,829 |
| ENST00000354202.9 | hg19 | chr11 | 118,967,220 | 118,972,563 | 5,344 |
| ENST00000639704.1 | hg19 | chr11 | 118,967,305 | 118,972,547 | 5,243 |
| ENST00000682791.1 | hg19 | chr11 | 118,967,233 | 118,972,541 | 5,309 |
| Key | Value |
|---|---|
| strand | - |
| start | 118,967,212 |
| Gene Symbol | DPAGT1 |
| Entrez GeneId | 1,798 |
| Chr Band | 11q23.3 |
| end | 118,972,784 |
| chr | chr11 |
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