Table 1.

Alterations to splicing components and their associated outcomes and disease.

Splicing Component	Alteration to Splicing Component	Outcome	Associated Disease	References
U1 snRNP
U1 snRNA	Aggregation in post mortem human brain and spinal cord	RNA processing defects	Alzheimer’s disease	[70]
U1 snRNA	A→C somatic mutation at third position	Use of cryptic 5′SS	Chronic lymphocytic leukemia Hepatocellular carcinoma	[71]
U1 snRNA	A→G somatic mutation at third position	Use of cryptic 5′SS	Sonic hedgehog medulloblastoma	[72]
U1-70K	N40K isoform	Dominant-negative effect affecting the ability to assemble commitment complex	Alzheimer’s disease	[73]
U1-70K	Alternative exon between exons 7 and 8	Shorter transcript	Amyotrophic lateral sclerosis-oxidative stress (ALS-Ox)	[74]
U2AF complex
U2AF1	S34F/Y substitution	Promote exon skipping	Myelodysplastic syndrome	[75,76]
U2AF1	S34F substitution	Affects pre-mRNA processing of autophagy-related factor 7	Myelodysplastic syndrome	[77]
U2AF1	Q157R substitution	Promote exon skipping	Myelodysplastic syndrome	[78]
U2AF2	SNP rs310445 (T→C)	Not specified	Pancreatic cancer	[79]
U2AF2	N196K substitution	Stabilization of open conformation; increases RNA-binding affinity	Acute myeloid leukemia	[80]
U2AF2	G301D substitution	Decreases RNA-binding affinity	Colon adenocarcinoma Castration-resistant prostate carcinoma	[80]
DDX39B/UAP56	SNP rs2523506 (C→T)	Decreases translation	Multiple sclerosis	[55]
U2 snRNP
SF3A1	SNP rs2074733 (T→C)	Not specified	Pancreatic cancer	[81]
SF3B1	K700E substitution	Disrupt branchpoint recognition and induces usage of cryptic 3′SS	Myelodysplastic syndrome-ring sideroblasts	[82]
SF3B2	Loss of function variants	Haploinsufficiency	Craniofacial microsomia	[83]
SF3B4	Loss of function variants	Haploinsufficiency	Nager syndrome	[84]