UGT1A4 UDP glucuronosyltransferase family 1 member A4
Information
- Symbol
- UGT1A4
- Type
- protein-coding
- Description
- UDP glucuronosyltransferase family 1 member A4
- Entrez Gene ID
- 54657
- Genome
- hg19
- Position
- chr2:234,627,382-234,681,946
- Genome
- hg38
- Position
- chr2:233,718,736-233,773,300
- MIM
- 606429 OMIM
- HGNC
- HGNC:12536 HGNC
- Ensembl
- ENSG00000244474 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 32 | 90 |
Likely pathogenic | 0 | 44 |
Benign | 0 | 34 |
Likely benign | 0 | 110 |
Benign; association | 0 | 2 |
Conflicting classifications of pathogenicity | 0 | 52 |
Conflicting classifications of pathogenicity; drug response | 0 | 2 |
Conflicting classifications of pathogenicity; other | 0 | 6 |
drug response | 0 | 2 |
Likely pathogenic; other | 0 | 2 |
not provided | 8 | 0 |
other | 0 | 2 |
Pathogenic; other | 0 | 2 |
Uncertain significance | 0 | 366 |
Ranking
ClinVar | |
---|---|
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0 |
![]() |
2 |
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156 |
![]() |
430 |
![]() |
40 |
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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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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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 | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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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 | GNT1 |
SYNONYM | HUG-BR2 |
SYNONYM | UDPGT |
SYNONYM | UDPGT 1-4 |
SYNONYM | UGT-1A |
SYNONYM | UGT-1D |
SYNONYM | UGT1 |
SYNONYM | UGT1-01 |
SYNONYM | UGT1-04 |
SYNONYM | UGT1.1 |
SYNONYM | UGT1.4 |
SYNONYM | UGT1A |
SYNONYM | UGT1A1 |
SYNONYM | UGT1A4S |
SYNONYM | UGT1D |
SYNONYM | hUG-BR1 |
MIM | 606429 OMIM |
HGNC | HGNC:12536 HGNC |
Ensembl | ENSG00000244474 Ensembl |
AllianceGenome | HGNC:12536 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000373409.8 | hg38 | chr2 | 233,718,736 | 233,773,300 | 54,565 |
ENST00000373409.8 | hg19 | chr2 | 234,627,382 | 234,681,946 | 54,565 |
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