SNRPE small nuclear ribonucleoprotein polypeptide E
Information
- Symbol
- SNRPE
- Type
- protein-coding
- Description
- small nuclear ribonucleoprotein polypeptide E
- Entrez Gene ID
- 6635
- Genome
- hg19
- Position
- chr1:203,830,727-203,840,280
- Genome
- hg38
- Position
- chr1:203,861,599-203,871,152
- MIM
- 128260 OMIM
- HGNC
- HGNC:11161 HGNC
- Ensembl
- ENSG00000182004 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 8 |
| Likely pathogenic | 0 | 2 |
| Benign | 0 | 2 |
| Likely benign | 0 | 10 |
| Uncertain significance | 0 | 8 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
2 |
 |
20 |
 |
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
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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 | HYPT11 |
| SYNONYM | SME |
| SYNONYM | Sm-E |
| SYNONYM | snRNP-E |
| MIM | 128260 OMIM |
| HGNC | HGNC:11161 HGNC |
| Ensembl | ENSG00000182004 Ensembl |
| AllianceGenome | HGNC:11161 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000414487.7 | hg38 | chr1 | 203,861,599 | 203,871,152 | 9,554 |
| ENST00000367208.1 | hg38 | chr1 | 203,863,625 | 203,870,051 | 6,427 |
| ENST00000414487.7 | hg19 | chr1 | 203,830,727 | 203,840,280 | 9,554 |
| ENST00000367208.1 | hg19 | chr1 | 203,832,753 | 203,839,179 | 6,427 |
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