DUSP6 dual specificity phosphatase 6
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 2 |
| Benign | 0 | 32 |
| Likely benign | 0 | 38 |
| Conflicting classifications of pathogenicity | 0 | 2 |
| Uncertain significance | 0 | 48 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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14 |
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102 |
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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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| 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 | HH19 |
| SYNONYM | MKP3 |
| SYNONYM | PYST1 |
| MIM | 602748 OMIM |
| HGNC | HGNC:3072 HGNC |
| Ensembl | ENSG00000139318 Ensembl |
| AllianceGenome | HGNC:3072 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000308385.6 | hg38 | chr12 | 89,348,369 | 89,352,405 | 4,037 |
| ENST00000279488.8 | hg38 | chr12 | 89,347,235 | 89,352,501 | 5,267 |
| ENST00000547291.1 | hg38 | chr12 | 89,349,072 | 89,351,171 | 2,100 |
| ENST00000279488.8 | hg19 | chr12 | 89,741,012 | 89,746,278 | 5,267 |
| ENST00000308385.6 | hg19 | chr12 | 89,742,146 | 89,746,182 | 4,037 |
| ENST00000547291.1 | hg19 | chr12 | 89,742,849 | 89,744,948 | 2,100 |
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