Table 1 Alternative splicing in diseases

From: Alternative splicing and cancer: a systematic review

Diseases

Subtypes

Splicing factors

Spliced isoforms

Biological function

References

Cancer

Solid tumors

Bladder

PTBP1

PKM/MEIS2

Migration, invasion, and proliferation

35

Brain

hnRNPA1

Delta Max

Metabolism

36

Breast

SRSF1

BIM/BIN1

Apoptosis and proliferation

37

Cervix

SRSF10

MIL1RAP

NF-κB activation

38

Colon

SRSF10

BCLAF1

Increased tumorigenic potential

39

Kidney

SRSF1, SRSF2, hnRNP A1

3′UTR

Apoptosis

40

Liver

HBV

HBSP

Constraining inflammation

41

Lung

SRSF1

PTPMT1

Promote phosphorylation of AMPK

42

Oral /HN

SRSF3

Unknown

Metastasis

43

Ovary

hTra2β1, YB-1, SRp20, and ASF/SF2

CD44

Metastasis

44

Prostate

HNRNPF

AR-V7

Proliferation

45

Skin

SRSF6

+E10-15/ΔE14 Tnc

Proliferation

46

Stomach

PTBP3

CAV1

PUF60 / FIR

Metastasis

proliferation and invasion

47,48

Thyroid

SRSF1

Unknown

Unknown

49

Hematopoietic

AML

SRSF1

Caspase-8

Unknown

50

AML/MDS

SRSF2

Unknown

Unknown

51

CMML

SRSF2

Unknown

Prognostic impact

52

De novo AML

U2AF1

Unknown

Prognostic impact

53

MDS w/o RS

SF3B1

Unknown

Unknown

54

MPN

SF3B1

Unknown

Unknown

55

RARS/RCMD

SF3B1

Unknown

Unknown

56

Neurological diseases19

Alzheimer’s disease

Unknown

APOE/APP

Unknown

57

Parkinson’s disease

SRRM2

Unknown

Unknown

58,59

Huntington’s disease

SRSF6

Unknown

Unknown

60

Schizophrenia

Unknown

ANK3/ HMGA1a

Unknown

61,62

Congenital myasthenic syndrome

Unknown

AGRN

Unknown

63

Spinal muscular atrophy

Many (e.g., SRSF1, HNRNPA1)

SMN1/2 (exon 7)

Low levels of the SMN

64,65

Immunological and infectious diseases

Celiac disease

Unknown

FoxP3

Unknown

66

Psoriasis

Unknown

IL-20R2

Unknown

67

Systemic lupus erythematosus

Unknown

CTLA-4

Unknown

68

Asthma

Unknown

IL-4

Unknown

69

Inflammatory response

Unknown

MD-2

Unknown

70

Viral infections

Unknown

MRP

Unknown

71

Cardiovascular disease

 

RBM20

Unknown

Unknown

72,73

Diabetes mellitus

 

SRSF1

Unknown

Unknown

74,75

  1. AML acute myeloid leukemia, AML/MDS acute myeloid leukemia myelodysplastic syndrome, CMML chronic myelomonocytic leukemia, HN head and neck, MDS w/o RS, myelodysplastic syndrome without ringed sideroblasts, RARS/RCMD refractory anemia with ringed sideroblasts and refractory cytopenia with multilineage dysplasia and ringed sideroblasts, MPN myeloproliferative neoplasm
Back to article page