HECTD4 HECT domain E3 ubiquitin protein ligase 4
Information
- Symbol
- HECTD4
- Type
- protein-coding
- Description
- HECT domain E3 ubiquitin protein ligase 4
- Entrez Gene ID
- 283450
- Genome
- hg19
- Position
- chr12:112,597,999-112,820,235
- Genome
- hg38
- Position
- chr12:112,160,195-112,382,431
- MIM
- 620209 OMIM
- HGNC
- HGNC:26611 HGNC
- Ensembl
- ENSG00000173064 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 10 |
| Likely pathogenic | 0 | 6 |
| Benign | 0 | 14 |
| Likely benign | 0 | 36 |
| Conflicting classifications of pathogenicity | 0 | 2 |
| Uncertain significance | 0 | 320 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
6 |
 |
372 |
 |
6 |
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
|
| Category | : |
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| 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 | C12ord51 |
| SYNONYM | C12orf51 |
| SYNONYM | HEEL |
| SYNONYM | NEDSSCC |
| SYNONYM | POTAGE |
| MIM | 620209 OMIM |
| HGNC | HGNC:26611 HGNC |
| Ensembl | ENSG00000173064 Ensembl |
| AllianceGenome | HGNC:26611 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000550722.5 | hg38 | chr12 | 112,160,188 | 112,382,092 | 221,905 |
| ENST00000682272.1 | hg38 | chr12 | 112,160,195 | 112,382,431 | 222,237 |
| ENST00000377560.9 | hg38 | chr12 | 112,160,190 | 112,382,439 | 222,250 |
| ENST00000550722.5 | hg19 | chr12 | 112,597,992 | 112,819,896 | 221,905 |
| ENST00000377560.9 | hg19 | chr12 | 112,597,994 | 112,820,243 | 222,250 |
| ENST00000682272.1 | hg19 | chr12 | 112,597,999 | 112,820,235 | 222,237 |
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