mRNA

AS Type

Biological role

Reference

AHR (Aryl-hydrocarbon receptor)

Skipping of exon 3

Regulator of the development and functioning of innate and adaptive immune responses. Regulate xenobiotic-metabolizing enzymes (cytochrome P450).

[13]

ARIH1 (Ariadne RBR E3 ubiquitin protein ligase 1)

Skipping of exons 1 and 2

Ubiquitination of target proteins.

Plays a role in protein translation in response to DNA damage.

[14]

ARNTL (Aryl hydrocarbon receptor nuclear translocator-like)

Skipping of exon 3

Activates the transcription and translation of PER1, PER2, CRY1 and CRY2 proteins.

[15]

BCLX (B-cell Lymphoma extra)

Skipping of 189 nucleotides from 3’-end of exon 2

Regulate cell death by blocking the voltage-dependent anion channel (VDAC). Caspase activation inhibition.

[16]

BDKRB2

(Bradykinin receptor B2)

Inclusion of exon 2

Initiation of inflammatory processes: vasodilation, edema, smooth muscle spasm.

[17]

CASP-2 (Caspase 2)

Inclusion of exon 9

Mediation of apoptosis by proteolytic cleavage of specific protein substrates.

[18]

CLDN7 (Claudin 7)

Skipping of exon 3

Components of the membrane system of intercellular interactions of dense connective tissues.

[19]

CLOCK (CLOCK circadian regulator)

Skipping of exons 1-9

Regulation of circadian rhythms.

[20]

CRHR2 (Corticotropin releasing hormone receptor 2)

Skipping of exon 3

Coordination of endocrine, autonomic, immune and behavioral responses to stress.

[21]

DNASE I (Deoxyribonuclease 1)

Skipping of exon 4

Hydrolysis of DNA by phosphodiester bonds in the last stages of apoptosis.

[22]

DRG2 (Developmentally regulated GTP binding protein 2)

Skipping of exons 1 and 2

Regulation of cell proliferation and differentiation.

[23]

FOXP3 (Forkhead box P3)

Skipping of exon 4

Regulation of proliferation, differentiation and suppressor activity of regulatory T cells.

[24]

FLT1 (FMS-related tyrosine kinase 1)

Skipping of exons 15-30

Regulation of endothelial cells angiogenesis and migration.

[25]

GFAP (Glial fibrillary acidic protein)

Skipping of exons 8-9

Provides instructions for making a protein called glial fibrillary acidic protein.

[26]

GRIN 1 (Glutamate ionotropic receptor NMDA type subunit 1)

Skipping of exon 4

Play a key role in the plasticity of synapses, which is believed to underlie memory and learning.

[27]

GTPBP8 (GTP-binding protein 8)

Skipping of exon 2

GTP binding and ferrous iron transmembrane transporter activity.

[28]

IL18 (Interleukin 18)

Skipping of exon 3

Augments natural killer cell activity in spleen cells, and stimulates interferon gamma production in T-helper type I cells.

[29]

KHDRBS1 (KH RNA binding domain containing, signal transduction associated 1)

Skipping of exon 3

Regulation of alternative splicing, gene expression and cell cycle.

[30]

MGAT5 (Мannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase)

Skipping of exons 12-18

The addition of beta-1,6-N-acetylglucosamine to the alpha-linked mannose on the newly synthesized glycoproteins.

[31]

NOVA 1 (NOVA alternative splicing regulator 1)

Skipping of exon 4

Regulation of splicing and processing of mRNA in neurons.

[32]

NR1D2 (Nuclear receptor subfamily 1 group D member 2c)

Skipping of exons 2-6

Transcriptional repressor. Regulation of circadian rhythms, carbohydrate and lipid metabolism.

[33]

PECAM1

Skipping of exon 3

Regulation of integrin activation, transendothelial migration of leukocytes and angiogenesis.

[34]

RNF128 (Ring finger protein 128, E3 ubiquitin protein ligase)

Skipping of exon 1

Inhibitor of.cytokine gene transcription

[35]

SAMHD1 (SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1)

Skipping of exon 14

Regulation of the innate and adaptive immune response along the tumor necrosis factor-alpha signaling pathway.

[36]

SIRT1 (Sirtuin 1)

Skipping of exon 2

Deacetylation of proteins. Increasing cell sensitivity to insulin.

[37]

SREBF1 (Sterol regulatory element binding transcription factor 1)

Skipping of exon 5

Regulation of gene expression of glucose metabolism proteins and the synthesis of fatty acids, cholesterol and lipids.

[38]

TERT

Skipping of exon 7-8

Regulation of telomerase activity.

[39]

TRIM23 (Tripartite motif-containing 23)

Skipping of exon 2

Autophagy activation during viral infection.

[40]