HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1
Information
- Symbol
- HUWE1
- Type
- protein-coding
- Description
- HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1
- Entrez Gene ID
- 10075
- Genome
- hg19
- Position
- chrX:53,559,057-53,711,114
- Genome
- hg38
- Position
- chrX:53,532,096-53,684,169
- MIM
- 300697 OMIM
- HGNC
- HGNC:30892 HGNC
- Ensembl
- ENSG00000086758 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 24 |
| Likely pathogenic | 0 | 98 |
| Benign | 0 | 542 |
| Likely benign | 0 | 880 |
| Conflicting classifications of pathogenicity | 0 | 94 |
| not provided | 6 | 4 |
| Uncertain significance | 0 | 1,120 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
363 |
 |
2,163 |
 |
18 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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| 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
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| Category | : |
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| 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 | ARF-BP1 |
| SYNONYM | HECTH9 |
| SYNONYM | HSPC272 |
| SYNONYM | Ib772 |
| SYNONYM | LASU1 |
| SYNONYM | MRXST |
| SYNONYM | MULE |
| SYNONYM | URE-B1 |
| SYNONYM | UREB1 |
| MIM | 300697 OMIM |
| HGNC | HGNC:30892 HGNC |
| Ensembl | ENSG00000086758 Ensembl |
| AllianceGenome | HGNC:30892 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000704099.1 | hg38 | chrX | 53,532,141 | 53,684,156 | 152,016 |
| ENST00000262854.11 | hg38 | chrX | 53,532,096 | 53,686,719 | 154,624 |
| ENST00000612484.4 | hg38 | chrX | 53,532,096 | 53,654,107 | 122,012 |
| ENST00000342160.7 | hg38 | chrX | 53,532,096 | 53,684,169 | 152,074 |
| ENST00000612484.4 | hg19 | chrX | 53,559,057 | 53,681,051 | 121,995 |
| ENST00000262854.11 | hg19 | chrX | 53,559,057 | 53,713,664 | 154,608 |
| ENST00000342160.7 | hg19 | chrX | 53,559,057 | 53,711,114 | 152,058 |
| ENST00000704099.1 | hg19 | chrX | 53,559,102 | 53,711,101 | 152,000 |
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