CYP2E1 cytochrome P450 family 2 subfamily E member 1
Information
- Symbol
- CYP2E1
- Type
- protein-coding
- Description
- cytochrome P450 family 2 subfamily E member 1
- Entrez Gene ID
- 1571
- Genome
- hg19
- Position
- chr10:135,333,910-135,352,626
- Genome
- hg38
- Position
- chr10:133,520,406-133,539,122
- MIM
- 124040 OMIM
- HGNC
- HGNC:2631 HGNC
- Ensembl
- ENSG00000130649 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 13 |
| Likely benign | 0 | 12 |
| association | 0 | 2 |
| no classification for the single variant | 0 | 4 |
| Uncertain significance | 0 | 34 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
1 |
 |
58 |
 |
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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| 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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| 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 | CPE1 |
| SYNONYM | CYP2E |
| SYNONYM | P450-J |
| SYNONYM | P450C2E |
| MIM | 124040 OMIM |
| HGNC | HGNC:2631 HGNC |
| Ensembl | ENSG00000130649 Ensembl |
| AllianceGenome | HGNC:2631 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000252945.8 | hg38 | chr10 | 133,527,363 | 133,539,123 | 11,761 |
| ENST00000463117.6 | hg38 | chr10 | 133,520,406 | 133,539,122 | 18,717 |
| ENST00000463117.6 | hg19 | chr10 | 135,333,910 | 135,352,626 | 18,717 |
| ENST00000252945.8 | hg19 | chr10 | 135,340,867 | 135,352,627 | 11,761 |
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