Annotation Detail
Information
- Associated Genes
- UGT1A1
- Associated Variants
-
UGT1A6 c.862-6536G>A, UGT1A5 c.868-6536G>A, UGT1A9 c.856-6536G>A, UGT1A7 c.856-6536G>A, UGT1A4 c.868-6536G>A, UGT1A8 c.856-6536G>A, UGT1A10 c.856-6536G>A, UGT1A3 c.868-6536G>A, UGT1A1 p.Gly71Arg (p.G71R)
(
ENST00000373450.5,
ENST00000305139.11,
ENST00000360418.4,
ENST00000344644.10,
ENST00000373409.8,
ENST00000354728.5,
ENST00000305208.10,
ENST00000482026.6,
ENST00000406651.1,
ENST00000373414.4,
ENST00000373426.4,
ENST00000373445.1,
ENST00000373424.5 )
UGT1A6 c.862-6500T>A, UGT1A5 c.868-6500T>A, UGT1A9 c.856-6500T>A, UGT1A7 c.856-6500T>A, UGT1A4 c.868-6500T>A, UGT1A8 c.856-6500T>A, UGT1A10 c.856-6500T>A, UGT1A3 c.868-6500T>A, UGT1A1 p.Phe83Ile (p.F83I) ( ENST00000344644.10, ENST00000373445.1, ENST00000373450.5, ENST00000373426.4, ENST00000305139.11, ENST00000373424.5, ENST00000406651.1, ENST00000373414.4, ENST00000354728.5, ENST00000373409.8, ENST00000305208.10, ENST00000360418.4, ENST00000482026.6 )
UGT1A6 c.862-6500T>C, UGT1A5 c.868-6500T>C, UGT1A9 c.856-6500T>C, UGT1A7 c.856-6500T>C, UGT1A4 c.868-6500T>C, UGT1A8 c.856-6500T>C, UGT1A10 c.856-6500T>C, UGT1A3 c.868-6500T>C, UGT1A1 p.Phe83Leu (p.F83L) ( ENST00000344644.10, ENST00000373445.1, ENST00000373450.5, ENST00000373426.4, ENST00000305139.11, ENST00000373424.5, ENST00000406651.1, ENST00000373414.4, ENST00000354728.5, ENST00000373409.8, ENST00000305208.10, ENST00000360418.4, ENST00000482026.6 )
UGT1A6 c.862-6061C>A, UGT1A5 c.868-6061C>A, UGT1A9 c.856-6061C>A, UGT1A7 c.856-6061C>A, UGT1A4 c.868-6061C>A, UGT1A8 c.856-6061C>A, UGT1A10 c.856-6061C>A, UGT1A3 c.868-6061C>A, UGT1A1 p.Pro229Gln (p.P229Q) ( ENST00000373424.5, ENST00000344644.10, ENST00000373445.1, ENST00000373450.5, ENST00000373426.4, ENST00000305139.11, ENST00000406651.1, ENST00000373414.4, ENST00000354728.5, ENST00000373409.8, ENST00000305208.10, ENST00000360418.4, ENST00000482026.6 )
UGT1A6 c.862-6061C>T, UGT1A5 c.868-6061C>T, UGT1A9 c.856-6061C>T, UGT1A7 c.856-6061C>T, UGT1A4 c.868-6061C>T, UGT1A8 c.856-6061C>T, UGT1A10 c.856-6061C>T, UGT1A3 c.868-6061C>T, UGT1A1 p.Pro229Leu (p.P229L) ( ENST00000344644.10, ENST00000373445.1, ENST00000373450.5, ENST00000373426.4, ENST00000305139.11, ENST00000373424.5, ENST00000406651.1, ENST00000373414.4, ENST00000354728.5, ENST00000373409.8, ENST00000305208.10, ENST00000360418.4, ENST00000482026.6 )
UGT1A6 p.Tyr485Asn (p.Y485N), UGT1A5 p.Tyr487Asn (p.Y487N), UGT1A9 p.Tyr483Asn (p.Y483N), UGT1A7 p.Tyr483Asn (p.Y483N), UGT1A4 p.Tyr487Asn (p.Y487N), UGT1A8 p.Tyr483Asn (p.Y483N), UGT1A10 p.Tyr483Asn (p.Y483N), UGT1A3 p.Tyr487Asn (p.Y487N), UGT1A1 p.Tyr486Asn (p.Y486N) ( ENST00000344644.10, ENST00000373450.5, ENST00000373426.4, ENST00000305139.11, ENST00000373424.5, ENST00000373414.4, ENST00000354728.5, ENST00000373409.8, ENST00000305208.10, ENST00000482026.6 )
UGT1A6 p.Tyr485His (p.Y485H), UGT1A5 p.Tyr487His (p.Y487H), UGT1A9 p.Tyr483His (p.Y483H), UGT1A7 p.Tyr483His (p.Y483H), UGT1A4 p.Tyr487His (p.Y487H), UGT1A8 p.Tyr483His (p.Y483H), UGT1A10 p.Tyr483His (p.Y483H), UGT1A3 p.Tyr487His (p.Y487H), UGT1A1 p.Tyr486His (p.Y486H) ( ENST00000344644.10, ENST00000373450.5, ENST00000373426.4, ENST00000305139.11, ENST00000373424.5, ENST00000373414.4, ENST00000354728.5, ENST00000373409.8, ENST00000305208.10, ENST00000482026.6 )
UGT1A6 p.Tyr485Asp (p.Y485D), UGT1A5 p.Tyr487Asp (p.Y487D), UGT1A9 p.Tyr483Asp (p.Y483D), UGT1A7 p.Tyr483Asp (p.Y483D), UGT1A4 p.Tyr487Asp (p.Y487D), UGT1A8 p.Tyr483Asp (p.Y483D), UGT1A10 p.Tyr483Asp (p.Y483D), UGT1A3 p.Tyr487Asp (p.Y487D), UGT1A1 p.Tyr486Asp (p.Y486D) ( ENST00000482026.6, ENST00000305208.10, ENST00000373424.5, ENST00000373414.4, ENST00000344644.10, ENST00000373450.5, ENST00000305139.11, ENST00000373426.4, ENST00000354728.5, ENST00000373409.8 )
UGT1A6 c.862-6536G>A, UGT1A5 c.868-6536G>A, UGT1A9 c.856-6536G>A, UGT1A7 c.856-6536G>A, UGT1A4 c.868-6536G>A, UGT1A8 c.856-6536G>A, UGT1A10 c.856-6536G>A, UGT1A3 c.868-6536G>A, UGT1A1 p.Gly71Arg (p.G71R) ( ENST00000344644.10, ENST00000373445.1, ENST00000373450.5, ENST00000373426.4, ENST00000305139.11, ENST00000373424.5, ENST00000406651.1, ENST00000373414.4, ENST00000354728.5, ENST00000373409.8, ENST00000305208.10, ENST00000360418.4, ENST00000482026.6 )
UGT1A6 c.862-6500T>A, UGT1A5 c.868-6500T>A, UGT1A9 c.856-6500T>A, UGT1A7 c.856-6500T>A, UGT1A4 c.868-6500T>A, UGT1A8 c.856-6500T>A, UGT1A10 c.856-6500T>A, UGT1A3 c.868-6500T>A, UGT1A1 p.Phe83Ile (p.F83I) ( ENST00000344644.10, ENST00000373445.1, ENST00000373450.5, ENST00000373426.4, ENST00000305139.11, ENST00000373424.5, ENST00000406651.1, ENST00000373414.4, ENST00000354728.5, ENST00000373409.8, ENST00000305208.10, ENST00000360418.4, ENST00000482026.6 )
UGT1A6 c.862-6500T>C, UGT1A5 c.868-6500T>C, UGT1A9 c.856-6500T>C, UGT1A7 c.856-6500T>C, UGT1A4 c.868-6500T>C, UGT1A8 c.856-6500T>C, UGT1A10 c.856-6500T>C, UGT1A3 c.868-6500T>C, UGT1A1 p.Phe83Leu (p.F83L) ( ENST00000344644.10, ENST00000373445.1, ENST00000373450.5, ENST00000373426.4, ENST00000305139.11, ENST00000373424.5, ENST00000406651.1, ENST00000373414.4, ENST00000354728.5, ENST00000373409.8, ENST00000305208.10, ENST00000360418.4, ENST00000482026.6 )
UGT1A6 c.862-6061C>A, UGT1A5 c.868-6061C>A, UGT1A9 c.856-6061C>A, UGT1A7 c.856-6061C>A, UGT1A4 c.868-6061C>A, UGT1A8 c.856-6061C>A, UGT1A10 c.856-6061C>A, UGT1A3 c.868-6061C>A, UGT1A1 p.Pro229Gln (p.P229Q) ( ENST00000344644.10, ENST00000373445.1, ENST00000373450.5, ENST00000373426.4, ENST00000305139.11, ENST00000373424.5, ENST00000406651.1, ENST00000373414.4, ENST00000354728.5, ENST00000373409.8, ENST00000305208.10, ENST00000360418.4, ENST00000482026.6 )
UGT1A6 c.862-6061C>T, UGT1A5 c.868-6061C>T, UGT1A9 c.856-6061C>T, UGT1A7 c.856-6061C>T, UGT1A4 c.868-6061C>T, UGT1A8 c.856-6061C>T, UGT1A10 c.856-6061C>T, UGT1A3 c.868-6061C>T, UGT1A1 p.Pro229Leu (p.P229L) ( ENST00000344644.10, ENST00000373445.1, ENST00000373450.5, ENST00000373426.4, ENST00000305139.11, ENST00000373424.5, ENST00000406651.1, ENST00000373414.4, ENST00000354728.5, ENST00000373409.8, ENST00000305208.10, ENST00000360418.4, ENST00000482026.6 )
UGT1A6 p.Tyr485Asn (p.Y485N), UGT1A5 p.Tyr487Asn (p.Y487N), UGT1A9 p.Tyr483Asn (p.Y483N), UGT1A7 p.Tyr483Asn (p.Y483N), UGT1A4 p.Tyr487Asn (p.Y487N), UGT1A8 p.Tyr483Asn (p.Y483N), UGT1A10 p.Tyr483Asn (p.Y483N), UGT1A3 p.Tyr487Asn (p.Y487N), UGT1A1 p.Tyr486Asn (p.Y486N) ( ENST00000344644.10, ENST00000373450.5, ENST00000373426.4, ENST00000305139.11, ENST00000373424.5, ENST00000373414.4, ENST00000354728.5, ENST00000373409.8, ENST00000305208.10, ENST00000482026.6 )
UGT1A6 p.Tyr485His (p.Y485H), UGT1A5 p.Tyr487His (p.Y487H), UGT1A9 p.Tyr483His (p.Y483H), UGT1A7 p.Tyr483His (p.Y483H), UGT1A4 p.Tyr487His (p.Y487H), UGT1A8 p.Tyr483His (p.Y483H), UGT1A10 p.Tyr483His (p.Y483H), UGT1A3 p.Tyr487His (p.Y487H), UGT1A1 p.Tyr486His (p.Y486H) ( ENST00000344644.10, ENST00000373450.5, ENST00000373426.4, ENST00000305139.11, ENST00000373424.5, ENST00000373414.4, ENST00000354728.5, ENST00000373409.8, ENST00000305208.10, ENST00000482026.6 )
UGT1A6 p.Tyr485Asp (p.Y485D), UGT1A5 p.Tyr487Asp (p.Y487D), UGT1A9 p.Tyr483Asp (p.Y483D), UGT1A7 p.Tyr483Asp (p.Y483D), UGT1A4 p.Tyr487Asp (p.Y487D), UGT1A8 p.Tyr483Asp (p.Y483D), UGT1A10 p.Tyr483Asp (p.Y483D), UGT1A3 p.Tyr487Asp (p.Y487D), UGT1A1 p.Tyr486Asp (p.Y486D) ( ENST00000344644.10, ENST00000373450.5, ENST00000373426.4, ENST00000305139.11, ENST00000373424.5, ENST00000373414.4, ENST00000354728.5, ENST00000373409.8, ENST00000305208.10, ENST00000482026.6 ) - Associated Disease
- Crigler Najjar syndrome, type 2
- Source Database
- DisGeNET
- Description
- UGT1A1 coding region mutations, including UGT1A1*6 (G71R), UGT1A1*7 (Y486D), UGT1A1*27 (P229Q) and UGT1A1*62 (F83L), have been linked to Gilbert syndrome in Asian populations, whereas homozygosity for UGT1A1*7 is associated with the Crigler-Najjar syndrome type II.
- Pubmed
- 18004206
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.482714418720803
- Year of publication
- 2007
Drugs