GPER1 G protein-coupled estrogen receptor 1
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 4 |
| Likely benign | 0 | 4 |
| Uncertain significance | 0 | 44 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
52 |
 |
0 |
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 | |||||||||||
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MGeND data only
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| 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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| 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 | CEPR |
| SYNONYM | CMKRL2 |
| SYNONYM | DRY12 |
| SYNONYM | FEG-1 |
| SYNONYM | GPCR-Br |
| SYNONYM | GPER |
| SYNONYM | GPR30 |
| SYNONYM | LERGU |
| SYNONYM | LERGU2 |
| SYNONYM | LyGPR |
| SYNONYM | mER |
| MIM | 601805 OMIM |
| HGNC | HGNC:4485 HGNC |
| Ensembl | ENSG00000164850 Ensembl |
| AllianceGenome | HGNC:4485 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000397092.5 | hg38 | chr7 | 1,086,807 | 1,093,815 | 7,009 |
| ENST00000397088.4 | hg38 | chr7 | 1,088,113 | 1,093,810 | 5,698 |
| ENST00000401670.1 | hg38 | chr7 | 1,082,208 | 1,092,881 | 10,674 |
| ENST00000297469.3 | hg38 | chr7 | 1,086,876 | 1,093,815 | 6,940 |
| ENST00000401670.1 | hg19 | chr7 | 1,121,844 | 1,132,517 | 10,674 |
| ENST00000397092.5 | hg19 | chr7 | 1,126,443 | 1,133,451 | 7,009 |
| ENST00000297469.3 | hg19 | chr7 | 1,126,512 | 1,133,451 | 6,940 |
| ENST00000397088.4 | hg19 | chr7 | 1,127,749 | 1,133,446 | 5,698 |
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