Annotation Detail
Information
- Associated Genes
- FOXM1
- Associated Variants
-
INS p.Tyr108Cys (p.Y108C), INS-IGF2 c.187+923A>G
(
ENST00000250971.7,
ENST00000397270.1,
ENST00000381330.5,
ENST00000397262.5,
ENST00000512523.1 )
INS p.Ser101Cys (p.S101C), INS-IGF2 c.187+902C>G ( ENST00000397262.5, ENST00000381330.5, ENST00000397270.1, ENST00000250971.7, ENST00000512523.1 )
INS p.Cys96Ser (p.C96S), INS-IGF2 c.187+887G>C ( ENST00000397262.5, ENST00000381330.5, ENST00000397270.1, ENST00000250971.7, ENST00000512523.1 )
INS p.Cys96Tyr (p.C96Y), INS-IGF2 c.187+887G>A ( ENST00000512523.1, ENST00000397262.5, ENST00000397270.1, ENST00000381330.5, ENST00000250971.7 )
INS p.Gly90Cys (p.G90C), INS-IGF2 c.187+868G>T ( ENST00000397270.1, ENST00000381330.5, ENST00000397262.5, ENST00000250971.7, ENST00000512523.1 )
INS p.Arg89Cys (p.R89C), INS-IGF2 c.187+865C>T ( ENST00000397262.5, ENST00000397270.1, ENST00000381330.5, ENST00000250971.7, ENST00000512523.1 )
INS p.Gly84Arg (p.G84R), INS-IGF2 c.187+850G>A ( ENST00000250971.7, ENST00000397262.5, ENST00000381330.5, ENST00000397270.1, ENST00000512523.1 )
INS p.Phe48Cys (p.F48C), INS-IGF2 p.Phe48Cys (p.F48C) ( ENST00000512523.1, ENST00000397262.5, ENST00000381330.5, ENST00000397270.1, ENST00000250971.7 )
INS p.Phe48Ser (p.F48S), INS-IGF2 p.Phe48Ser (p.F48S) ( ENST00000397270.1, ENST00000381330.5, ENST00000397262.5, ENST00000250971.7, ENST00000512523.1 )
INS p.Gly47Val (p.G47V), INS-IGF2 p.Gly47Val (p.G47V) ( ENST00000512523.1, ENST00000397270.1, ENST00000381330.5, ENST00000397262.5, ENST00000250971.7 )
INS p.Cys43Gly (p.C43G), INS-IGF2 p.Cys43Gly (p.C43G) ( ENST00000512523.1, ENST00000250971.7, ENST00000381330.5, ENST00000397270.1, ENST00000397262.5 )
INS p.Leu35Pro (p.L35P), INS-IGF2 p.Leu35Pro (p.L35P) ( ENST00000397262.5, ENST00000381330.5, ENST00000397270.1, ENST00000250971.7, ENST00000512523.1 )
INS p.Gly32Arg (p.G32R), INS-IGF2 p.Gly32Arg (p.G32R) ( ENST00000512523.1, ENST00000397262.5, ENST00000381330.5, ENST00000397270.1, ENST00000250971.7 )
INS p.Gly32Ser (p.G32S), INS-IGF2 p.Gly32Ser (p.G32S) ( ENST00000512523.1, ENST00000397270.1, ENST00000381330.5, ENST00000397262.5, ENST00000250971.7 )
INS p.Ala24Val (p.A24V), INS-IGF2 p.Ala24Val (p.A24V) ( ENST00000397262.5, ENST00000397270.1, ENST00000381330.5, ENST00000250971.7, ENST00000512523.1 )
INS p.Ala24Asp (p.A24D), INS-IGF2 p.Ala24Asp (p.A24D) ( ENST00000250971.7, ENST00000397262.5, ENST00000397270.1, ENST00000381330.5, ENST00000512523.1 )
INS p.Tyr108Cys (p.Y108C), INS-IGF2 c.187+923A>G ( ENST00000250971.7, ENST00000381330.5, ENST00000397262.5, ENST00000512523.1, ENST00000397270.1 )
INS p.Ser101Cys (p.S101C), INS-IGF2 c.187+902C>G ( ENST00000250971.7, ENST00000381330.5, ENST00000397262.5, ENST00000512523.1, ENST00000397270.1 )
INS p.Cys96Ser (p.C96S), INS-IGF2 c.187+887G>C ( ENST00000250971.7, ENST00000381330.5, ENST00000397262.5, ENST00000512523.1, ENST00000397270.1 )
INS p.Cys96Tyr (p.C96Y), INS-IGF2 c.187+887G>A ( ENST00000250971.7, ENST00000381330.5, ENST00000397262.5, ENST00000512523.1, ENST00000397270.1 )
INS p.Gly90Cys (p.G90C), INS-IGF2 c.187+868G>T ( ENST00000250971.7, ENST00000381330.5, ENST00000397262.5, ENST00000512523.1, ENST00000397270.1 )
INS p.Arg89Cys (p.R89C), INS-IGF2 c.187+865C>T ( ENST00000250971.7, ENST00000381330.5, ENST00000397262.5, ENST00000512523.1, ENST00000397270.1 )
INS p.Gly84Arg (p.G84R), INS-IGF2 c.187+850G>A ( ENST00000250971.7, ENST00000381330.5, ENST00000397262.5, ENST00000512523.1, ENST00000397270.1 )
INS p.Phe48Cys (p.F48C), INS-IGF2 p.Phe48Cys (p.F48C) ( ENST00000250971.7, ENST00000381330.5, ENST00000397262.5, ENST00000512523.1, ENST00000397270.1 )
INS p.Phe48Ser (p.F48S), INS-IGF2 p.Phe48Ser (p.F48S) ( ENST00000250971.7, ENST00000381330.5, ENST00000397262.5, ENST00000512523.1, ENST00000397270.1 )
INS p.Gly47Val (p.G47V), INS-IGF2 p.Gly47Val (p.G47V) ( ENST00000250971.7, ENST00000381330.5, ENST00000397262.5, ENST00000512523.1, ENST00000397270.1 )
INS p.Cys43Gly (p.C43G), INS-IGF2 p.Cys43Gly (p.C43G) ( ENST00000250971.7, ENST00000381330.5, ENST00000397262.5, ENST00000512523.1, ENST00000397270.1 )
INS p.Leu35Pro (p.L35P), INS-IGF2 p.Leu35Pro (p.L35P) ( ENST00000250971.7, ENST00000381330.5, ENST00000397262.5, ENST00000512523.1, ENST00000397270.1 )
INS p.Gly32Arg (p.G32R), INS-IGF2 p.Gly32Arg (p.G32R) ( ENST00000250971.7, ENST00000381330.5, ENST00000397262.5, ENST00000512523.1, ENST00000397270.1 )
INS p.Gly32Ser (p.G32S), INS-IGF2 p.Gly32Ser (p.G32S) ( ENST00000250971.7, ENST00000381330.5, ENST00000397262.5, ENST00000512523.1, ENST00000397270.1 )
INS p.Ala24Val (p.A24V), INS-IGF2 p.Ala24Val (p.A24V) ( ENST00000250971.7, ENST00000381330.5, ENST00000397262.5, ENST00000512523.1, ENST00000397270.1 )
INS p.Ala24Asp (p.A24D), INS-IGF2 p.Ala24Asp (p.A24D) ( ENST00000250971.7, ENST00000381330.5, ENST00000397262.5, ENST00000512523.1, ENST00000397270.1 ) - Associated Disease
- insulinoma
- Source Database
- DisGeNET
- Description
- We examined the subcellular localization and secretion of 13 neonatal diabetes-associated human proinsulin proteins (A24D, G32R, G32S, L35P, C43G, G47V, F48C, G84R, R89C, G90C, C96Y, S101C and Y108C) in rat INS-1 insulinoma cells.
- Pubmed
- 20034470
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00732893054616819
- Year of publication
- 2010
Drugs