ADGRE1 adhesion G protein-coupled receptor E1
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 16 |
Likely benign | 0 | 14 |
Uncertain significance | 0 | 114 |
Ranking
ClinVar | |
---|---|
![]() |
0 |
![]() |
0 |
![]() |
2 |
![]() |
140 |
![]() |
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
|
Category | : |
|
Search word | : | |
Filtering | : |
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
|
Category | : |
|
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 | : |
|
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 | EMR1 |
SYNONYM | TM7LN3 |
MIM | 600493 OMIM |
HGNC | HGNC:3336 HGNC |
Ensembl | ENSG00000174837 Ensembl |
AllianceGenome | HGNC:3336 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000250572.12 | hg38 | chr19 | 6,887,566 | 6,940,459 | 52,894 |
ENST00000312053.9 | hg38 | chr19 | 6,887,579 | 6,940,450 | 52,872 |
ENST00000381404.8 | hg38 | chr19 | 6,887,579 | 6,940,451 | 52,873 |
ENST00000381407.9 | hg38 | chr19 | 6,887,571 | 6,940,440 | 52,870 |
ENST00000450315.7 | hg38 | chr19 | 6,887,577 | 6,940,434 | 52,858 |
ENST00000250572.12 | hg19 | chr19 | 6,887,577 | 6,940,470 | 52,894 |
ENST00000381407.9 | hg19 | chr19 | 6,887,582 | 6,940,451 | 52,870 |
ENST00000450315.7 | hg19 | chr19 | 6,887,588 | 6,940,445 | 52,858 |
ENST00000312053.9 | hg19 | chr19 | 6,887,590 | 6,940,461 | 52,872 |
ENST00000381404.8 | hg19 | chr19 | 6,887,590 | 6,940,462 | 52,873 |
Genome browser