ENTREP3 endosomal transmembrane epsin interactor 3
Information
- Symbol
- ENTREP3
- Type
- protein-coding
- Description
- endosomal transmembrane epsin interactor 3
- Entrez Gene ID
- 10712
- Genome
- hg19
- Position
- chr1:155,216,996-155,225,274
- Genome
- hg38
- Position
- chr1:155,247,205-155,255,483
- MIM
- 619447 OMIM
- HGNC
- HGNC:1233 HGNC
- Ensembl
- ENSG00000160767 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Uncertain significance | 0 | 80 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
80 |
 |
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 | |||||||||||
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 | C1orf2 |
| SYNONYM | COTE1 |
| SYNONYM | FAM189B |
| MIM | 619447 OMIM |
| HGNC | HGNC:1233 HGNC |
| Ensembl | ENSG00000160767 Ensembl |
| AllianceGenome | HGNC:1233 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000368368.7 | hg38 | chr1 | 155,247,217 | 155,254,968 | 7,752 |
| ENST00000361361.7 | hg38 | chr1 | 155,247,205 | 155,255,483 | 8,279 |
| ENST00000350210.6 | hg38 | chr1 | 155,247,205 | 155,254,960 | 7,756 |
| ENST00000350210.6 | hg19 | chr1 | 155,216,996 | 155,224,751 | 7,756 |
| ENST00000361361.7 | hg19 | chr1 | 155,216,996 | 155,225,274 | 8,279 |
| ENST00000368368.7 | hg19 | chr1 | 155,217,008 | 155,224,759 | 7,752 |
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