UGT1A6 UDP glucuronosyltransferase family 1 member A6
Information
- Symbol
- UGT1A6
- Type
- protein-coding
- Description
- UDP glucuronosyltransferase family 1 member A6
- Entrez Gene ID
- 54578
- Genome
- hg19
- Position
- chr2:234,601,536-234,681,946
- Genome
- hg38
- Position
- chr2:233,692,890-233,773,300
- MIM
- 606431 OMIM
- HGNC
- HGNC:12538 HGNC
- Ensembl
- ENSG00000167165 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 32 | 90 |
| Likely pathogenic | 0 | 44 |
| Benign | 0 | 56 |
| Likely benign | 0 | 118 |
| 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 | 9 | 0 |
| other | 0 | 2 |
| Pathogenic; other | 0 | 2 |
| Uncertain significance | 0 | 452 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
2 |
 |
164 |
 |
538 |
 |
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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| Category | : |
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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 | GNT1 |
| SYNONYM | HLUGP |
| SYNONYM | HLUGP1 |
| SYNONYM | UDPGT |
| SYNONYM | UDPGT 1-6 |
| SYNONYM | UGT-1A |
| SYNONYM | UGT-1C |
| SYNONYM | UGT-1E |
| SYNONYM | UGT-1F |
| SYNONYM | UGT1 |
| SYNONYM | UGT1-01 |
| SYNONYM | UGT1-03 |
| SYNONYM | UGT1-05 |
| SYNONYM | UGT1-06 |
| SYNONYM | UGT1.1 |
| SYNONYM | UGT1.3 |
| SYNONYM | UGT1.5 |
| SYNONYM | UGT1.6 |
| SYNONYM | UGT1A |
| SYNONYM | UGT1A1 |
| SYNONYM | UGT1A3 |
| SYNONYM | UGT1A5 |
| SYNONYM | UGT1A6S |
| SYNONYM | UGT1C |
| SYNONYM | UGT1E |
| SYNONYM | UGT1F |
| SYNONYM | hUG-BR1 |
| MIM | 606431 OMIM |
| HGNC | HGNC:12538 HGNC |
| Ensembl | ENSG00000167165 Ensembl |
| AllianceGenome | HGNC:12538 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000406651.1 | hg38 | chr2 | 233,693,692 | 233,769,701 | 76,010 |
| ENST00000373424.5 | hg38 | chr2 | 233,691,607 | 233,772,668 | 81,062 |
| ENST00000305139.11 | hg38 | chr2 | 233,692,890 | 233,773,300 | 80,411 |
| ENST00000373424.5 | hg19 | chr2 | 234,600,253 | 234,681,314 | 81,062 |
| ENST00000305139.11 | hg19 | chr2 | 234,601,536 | 234,681,946 | 80,411 |
| ENST00000406651.1 | hg19 | chr2 | 234,602,338 | 234,678,347 | 76,010 |
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