Reactome | loss_of_function via frameshift

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loss_of_function via frameshift_truncation Show undefined attributes

created	[InstanceEdit:2823059] Orlic-Milacic, M, 2012-12-11
dbId	2823060
displayName	loss_of_function via frameshift_truncation
functionalStatusType	[FunctionalStatusType:2426104] loss_of_function
schemaClass	FunctionalStatus
structuralVariant	[SequenceOntology:2318494] frameshift_truncation

Referrals

(functionalStatus)

[EntityFunctionalStatus:9646296] loss_of_function of p14ARF R21RfsTER47 [cytosol]
[EntityFunctionalStatus:5625096] loss_of_function of SLC20A2 mutants [plasma membrane]
[EntityFunctionalStatus:5660833] loss_of_function of SLC3A2:SLC7A7 mutants [plasma membrane]
[EntityFunctionalStatus:5652109] loss_of_function of SLC35A2 mutants [Golgi membrane]
[EntityFunctionalStatus:5625840] loss_of_function of SLC24A1 F538Cfs*23 [plasma membrane]
[EntityFunctionalStatus:5638282] loss_of_function of SLC2A2 mutants [plasma membrane]
[EntityFunctionalStatus:5651952] loss_of_function of SLC34A3 mutants [plasma membrane]
[EntityFunctionalStatus:5654123] loss_of_function of SLC39A4 mutants [plasma membrane]
[EntityFunctionalStatus:5661392] loss_of_function of SLCO2A1 mutants [plasma membrane]
[EntityFunctionalStatus:5661056] loss_of_function of SLC9A6 mutants [early endosome membrane]
[EntityFunctionalStatus:5656260] loss_of_function of SLC4A4 mutants [plasma membrane]
[EntityFunctionalStatus:5623050] loss_of_function of RHAG mutants [plasma membrane]
[EntityFunctionalStatus:5658165] loss_of_function of SLC5A2 mutants [plasma membrane]
[EntityFunctionalStatus:5658478] loss_of_function of SLC5A7 K499Nfs*13 [plasma membrane]
[EntityFunctionalStatus:5632797] loss_of_function of SLC2A10 mutants [plasma membrane]
[EntityFunctionalStatus:5628751] loss_of_function of SLC29A3 mutants [lysosomal membrane]
[EntityFunctionalStatus:5621379] loss_of_function of CP mutants:6xCu2+:SLC40A1 [plasma membrane]
[EntityFunctionalStatus:5624269] loss_of_function of SLC17A5 mutants [lysosomal membrane]
[EntityFunctionalStatus:5623783] loss_of_function of SLC12A6 mutants [plasma membrane]
[EntityFunctionalStatus:5626338] loss_of_function of SLC24A5 mutants [trans-Golgi network membrane]
[EntityFunctionalStatus:5651974] loss_of_function of SLC35A1 V93Cfs*17 [Golgi membrane]
[EntityFunctionalStatus:5659741] loss_of_function of SLC6A19 mutants [plasma membrane]
[EntityFunctionalStatus:5683172] loss_of_function of KCNJ11 tetramer:ABCC8 mutants [plasma membrane]
[EntityFunctionalStatus:5678763] loss_of_function of ABCB4 mutants [plasma membrane]
[EntityFunctionalStatus:5678459] loss_of_function of ABCC9 mutants:KCNJ11 [plasma membrane]
[EntityFunctionalStatus:5682318] loss_of_function of ABCA12 mutants [plasma membrane]
[EntityFunctionalStatus:9608299] loss_of_function of MUTYH binding LOF mutants [nucleoplasm]
[EntityFunctionalStatus:9605336] loss_of_function of MUTYH LOF mutants:(8oxoG:Ade)-dsDNA [nucleoplasm]
[EntityFunctionalStatus:5632956] loss_of_function of PMS2 Variants [nucleoplasm]
[EntityFunctionalStatus:5632965] loss_of_function of MSH6 LEU222TER [nucleoplasm]
[EntityFunctionalStatus:5578672] loss_of_function of MSH3 414TER [nucleoplasm]
[EntityFunctionalStatus:9704404] loss_of_function of PALB2 mutants (BRCA2/RAD51/RAD51C binding) [nucleoplasm]
[EntityFunctionalStatus:6802838] loss_of_function of NF1 GTPase mutants:SPRED dimer:p21 RAS:GTP [plasma membrane]
[EntityFunctionalStatus:5339707] loss_of_function of TCF7L2 mutants [nucleoplasm]
[EntityFunctionalStatus:4791276] loss_of_function of APC truncation mutants [cytosol]
[EntityFunctionalStatus:4839739] loss_of_function of truncated AMER1 mutants [cytosol]
[EntityFunctionalStatus:4839737] decreased_transcript_level and loss_of_function of truncation and missense AXIN mutants [cytosol]
[EntityFunctionalStatus:3642202] loss_of_function of TGFBR2 MSI frameshift mutants [cytosol]
[EntityFunctionalStatus:3656519] loss_of_function of TGFB1:TGFBR2:p-TGFBR1 KD Mutants [plasma membrane]
[EntityFunctionalStatus:2638178] loss_of_function of p-NICD1 PEST domain mutants [nucleoplasm]
[EntityFunctionalStatus:5683319] loss_of_function of ABCD4 mutant:LBRD1 complexes [lysosomal membrane]
[EntityFunctionalStatus:5601774] loss_of_function of CYP17A1 mutants [endoplasmic reticulum membrane]
[EntityFunctionalStatus:5603113] loss_of_function of MAT1A mutant multimers [cytosol]
[EntityFunctionalStatus:5602256] loss_of_function of CYP2U1 mutants [endoplasmic reticulum membrane]
[EntityFunctionalStatus:5602019] loss_of_function of CYP24A1 mutants [mitochondrial inner membrane]
[EntityFunctionalStatus:5601964] loss_of_function of CYP21A2 mutants [endoplasmic reticulum membrane]
[EntityFunctionalStatus:5603285] loss_of_function of SLC35D1 mutants [endoplasmic reticulum membrane]
[EntityFunctionalStatus:5603197] loss_of_function of OPLAH mutants [cytosol]
[EntityFunctionalStatus:5602159] loss_of_function of CYP26C1 mutations [endoplasmic reticulum membrane]
[EntityFunctionalStatus:5579087] loss_of_function of ACY1 mutants:Zn2+ dimer [cytosol]
[EntityFunctionalStatus:4341661] loss_of_function of GFPT1 mutants [cytosol]
[EntityFunctionalStatus:5609932] loss_of_function of PGM1 mutants:Mg2+ [cytosol]
[EntityFunctionalStatus:3781904] loss_of_function of MPI mutants [cytosol]
[EntityFunctionalStatus:4755608] loss_of_function of SRD5A3 mutants [endoplasmic reticulum membrane]
[EntityFunctionalStatus:4717400] loss_of_function of DPM1 mutants:DPM2:DPM3 [endoplasmic reticulum membrane]
[EntityFunctionalStatus:3656429] loss_of_function of B4GALT1 R345Kfs*6 [Golgi membrane]
[EntityFunctionalStatus:3730977] loss_of_function of EXT1 mutants:EXT2 [Golgi membrane]
[EntityFunctionalStatus:3700925] loss_of_function of HEXB mutants [lysosomal lumen]
[EntityFunctionalStatus:4420360] loss_of_function of B3GALT6 mutants [Golgi membrane]
[EntityFunctionalStatus:3731101] loss_of_function of EXT1:EXT2 mutants [Golgi membrane]
[EntityFunctionalStatus:3700907] loss_of_function of HEXA Y427Ifs*5 [lysosomal lumen]
[EntityFunctionalStatus:3636868] loss_of_function of CHSY1 mutants [Golgi membrane]
[EntityFunctionalStatus:5617046] loss_of_function of POMT1:POMT2 mutants [endoplasmic reticulum membrane]
[EntityFunctionalStatus:5617039] loss_of_function of POMGNT1 mutants [Golgi membrane]
[EntityFunctionalStatus:6785677] loss_of_function of B4GAT1:LARGE mutants [Golgi membrane]
[EntityFunctionalStatus:5615570] loss_of_function of POMT1 mutants:POMT2 [endoplasmic reticulum membrane]
[EntityFunctionalStatus:4549390] loss_of_function of ALG2 mutants [endoplasmic reticulum membrane]
[EntityFunctionalStatus:4549405] loss_of_function of DPAGT1 mutants [endoplasmic reticulum membrane]
[EntityFunctionalStatus:4724335] loss_of_function of ALG8 mutants [endoplasmic reticulum membrane]
[EntityFunctionalStatus:4717402] loss_of_function of MPDU1 mutants [endoplasmic reticulum membrane]
[EntityFunctionalStatus:5662849] loss_of_function of DCXR H195Tfs*7 [plasma membrane]
[EntityFunctionalStatus:2318590] loss_of_function of HYAL1 mutants [lysosomal lumen]
[EntityFunctionalStatus:5688904] loss_of_function of CSF2RA:CSF2RB mutants [plasma membrane]
[EntityFunctionalStatus:9670622] loss_of_function of ATRX truncation mutants (DAXX binding region) [nucleoplasm]
[EntityFunctionalStatus:9670617] loss_of_function of DAXX Truncation Mutants (N-terminus) [nucleoplasm]
[EntityFunctionalStatus:9726239] loss_of_function and partial_loss_of_function of TP53 mutants (tetramerization) [nucleoplasm]
[EntityFunctionalStatus:9763199] loss_of_function and partial_loss_of_function of BRCA2 mutants (SEM1 binding) [cytosol]
[EntityFunctionalStatus:9709285] loss_of_function of BRCA2 mutants (NLS):SEM1 [cytosol]
[EntityFunctionalStatus:9702767] loss_of_function and partial_loss_of_function of Defective 3' overhanging ssDNA-DSBs:p-MRN:p-S1981,Ac-K3016-ATM:KAT5:BRCA1-C complex:EXO1,DNA2:BLM,WRN:p-S990,Ac-K1249-BRIP1:p-T309-RAD51:p-T3387-BRCA2:BCDX2 complex [nucleoplasm]

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