ESCO1 establishment of sister chromatid cohesion N-acetyltransferase 1
Information
- Symbol
- ESCO1
- Type
- protein-coding
- Description
- establishment of sister chromatid cohesion N-acetyltransferase 1
- Entrez Gene ID
- 114799
- Genome
- hg19
- Position
- chr18:19,109,245-19,180,665
- Genome
- hg38
- Position
- chr18:21,529,284-21,600,704
- MIM
- 609674 OMIM
- HGNC
- HGNC:24645 HGNC
- Ensembl
- ENSG00000141446 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 4 |
| Uncertain significance | 0 | 66 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
70 |
 |
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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| 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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| 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 | A930014I12Rik |
| SYNONYM | CTF |
| SYNONYM | ECO1 |
| SYNONYM | EFO1 |
| SYNONYM | ESO1 |
| MIM | 609674 OMIM |
| HGNC | HGNC:24645 HGNC |
| Ensembl | ENSG00000141446 Ensembl |
| AllianceGenome | HGNC:24645 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000269214.10 | hg38 | chr18 | 21,529,284 | 21,600,704 | 71,421 |
| ENST00000622333.1 | hg38 | chr18 | 21,529,310 | 21,560,981 | 31,672 |
| ENST00000269214.10 | hg19 | chr18 | 19,109,245 | 19,180,665 | 71,421 |
| ENST00000622333.1 | hg19 | chr18 | 19,109,271 | 19,140,942 | 31,672 |
| Key | Value |
|---|---|
| strand | - |
| start | 19,109,261 |
| Gene Symbol | ESCO1 |
| Entrez GeneId | 114,799 |
| Chr Band | 18q11.2 |
| end | 19,180,692 |
| chr | chr18 |
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