MBD4 methyl-CpG binding domain 4, DNA glycosylase
Information
- Symbol
- MBD4
- Type
- protein-coding
- Description
- methyl-CpG binding domain 4, DNA glycosylase
- Entrez Gene ID
- 8930
- Genome
- hg19
- Position
- chr3:129,149,793-129,158,852
- Genome
- hg38
- Position
- chr3:129,430,950-129,440,009
- MIM
- 603574 OMIM
- HGNC
- HGNC:6919 HGNC
- Ensembl
- ENSG00000129071 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 42 |
| Likely pathogenic | 0 | 8 |
| Benign | 0 | 36 |
| Likely benign | 0 | 202 |
| Conflicting classifications of pathogenicity | 0 | 22 |
| risk factor | 0 | 2 |
| Uncertain significance | 0 | 422 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
58 |
 |
650 |
 |
2 |
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 | : |
|
| 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 | MED1 |
| SYNONYM | TPDS2 |
| SYNONYM | UVM1 |
| MIM | 603574 OMIM |
| HGNC | HGNC:6919 HGNC |
| Ensembl | ENSG00000129071 Ensembl |
| AllianceGenome | HGNC:6919 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000507208.1 | hg38 | chr3 | 129,432,176 | 129,440,035 | 7,860 |
| ENST00000393278.6 | hg38 | chr3 | 129,430,952 | 129,440,179 | 9,228 |
| ENST00000429544.7 | hg38 | chr3 | 129,430,947 | 129,439,948 | 9,002 |
| ENST00000503197.5 | hg38 | chr3 | 129,431,266 | 129,440,007 | 8,742 |
| ENST00000249910.5 | hg38 | chr3 | 129,430,950 | 129,440,009 | 9,060 |
| ENST00000429544.7 | hg19 | chr3 | 129,149,790 | 129,158,791 | 9,002 |
| ENST00000249910.5 | hg19 | chr3 | 129,149,793 | 129,158,852 | 9,060 |
| ENST00000393278.6 | hg19 | chr3 | 129,149,795 | 129,159,022 | 9,228 |
| ENST00000503197.5 | hg19 | chr3 | 129,150,109 | 129,158,850 | 8,742 |
| ENST00000507208.1 | hg19 | chr3 | 129,151,019 | 129,158,878 | 7,860 |
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