DTL denticleless E3 ubiquitin protein ligase homolog
Information
- Symbol
- DTL
- Type
- protein-coding
- Description
- denticleless E3 ubiquitin protein ligase homolog
- Entrez Gene ID
- 51514
- Genome
- hg19
- Position
- chr1:212,209,090-212,278,355
- Genome
- hg38
- Position
- chr1:212,035,748-212,105,013
- MIM
- 610617 OMIM
- HGNC
- HGNC:30288 HGNC
- Ensembl
- ENSG00000143476 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 2 |
| Likely benign | 0 | 8 |
| Uncertain significance | 0 | 44 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
54 |
 |
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 | CDT2 |
| SYNONYM | DCAF2 |
| SYNONYM | L2DTL |
| SYNONYM | RAMP |
| MIM | 610617 OMIM |
| HGNC | HGNC:30288 HGNC |
| Ensembl | ENSG00000143476 Ensembl |
| AllianceGenome | HGNC:30288 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000542077.5 | hg38 | chr1 | 212,035,553 | 212,105,006 | 69,454 |
| ENST00000366991.5 | hg38 | chr1 | 212,035,748 | 212,105,013 | 69,266 |
| ENST00000542077.5 | hg19 | chr1 | 212,208,895 | 212,278,348 | 69,454 |
| ENST00000366991.5 | hg19 | chr1 | 212,209,090 | 212,278,355 | 69,266 |
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