CHRNE cholinergic receptor nicotinic epsilon subunit
Information
- Symbol
- CHRNE
- Type
- protein-coding
- Description
- cholinergic receptor nicotinic epsilon subunit
- Entrez Gene ID
- 1145
- Genome
- hg19
- Position
- chr17:4,801,066-4,806,393
- Genome
- hg38
- Position
- chr17:4,897,771-4,903,098
- MIM
- 100725 OMIM
- HGNC
- HGNC:1966 HGNC
- Ensembl
- ENSG00000108556 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 4 | 346 |
| Likely pathogenic | 2 | 264 |
| Benign | 8 | 140 |
| Likely benign | 0 | 1,290 |
| Conflicting classifications of pathogenicity | 0 | 126 |
| not provided | 0 | 2 |
| Uncertain significance | 0 | 798 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
460 |
 |
2,198 |
 |
46 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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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| 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 | : |
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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 | ACHRE |
| SYNONYM | CMS1A1 |
| SYNONYM | CMS1D |
| SYNONYM | CMS1E |
| SYNONYM | CMS2A |
| SYNONYM | CMS4A |
| SYNONYM | CMS4B |
| SYNONYM | CMS4C |
| SYNONYM | FCCMS |
| SYNONYM | FIM1 |
| SYNONYM | FIMG |
| SYNONYM | FIMG1 |
| SYNONYM | MGI |
| SYNONYM | SCCMS |
| MIM | 100725 OMIM |
| HGNC | HGNC:1966 HGNC |
| Ensembl | ENSG00000108556 Ensembl |
| AllianceGenome | HGNC:1966 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000649830.1 | hg38 | chr17 | 4,898,085 | 4,934,438 | 36,354 |
| ENST00000649488.2 | hg38 | chr17 | 4,897,771 | 4,903,098 | 5,328 |
| ENST00000649488.2 | hg19 | chr17 | 4,801,066 | 4,806,393 | 5,328 |
| ENST00000649830.1 | hg19 | chr17 | 4,801,380 | 4,837,733 | 36,354 |
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