Table 1 The aberrant changes of cis element of splicing.

From: Alternative splicing of mRNA in colorectal cancer: new strategies for tumor diagnosis and treatment

Gene

Mutant site

Mutant type

Splicing mechanism

Splicing alteration

Somatic or germline

Reference

BRCA2

c.7802A>G

Single base substitution

Splice donor site

Skipping the last four nucleotides of exon 16

Germline mutation

[127]

BRF1

c.1459+2T>C

Single base substitution

Splice donor site

Skipping of exon 13

Germline mutation

[38]

DPDY

c.321+2T>C

Single base substitution

Splice donor site

Skipping of exon 4

–

[128]

MLH1

c.543C>T

Single base substitution

Splice donor site

Deletion of the last 4 bases of exon 6

Germline mutation

[129]

BRCA2

c.67+3A>G

Single base substitution

Splice donor site

Skipping of exon 2

Germline mutation

[130]

MSH2

c.2634+1G>C

Single base substitution

–

Skipping of exon 15

Germline mutation

[131]

 

c.212-1G>A

Single base substitution

Splice acceptor site

Deletion 80-85 bases of exon 2

Germline mutation

[37]

PMS2

c.2002A>G

Single base substitution

Splice donor site at intron 11

5 bp deletion at the exon 11–12 junction

Germline mutation

[39]

TP53

c.96+1G>A

Single base substitution

Splice donor site

Exon 3 skipping

Somatic mutation

[132]

 

c.782+1G>A

Single base substitution

Splice donor site

Intron 7 retention

Somatic mutation

 
 

c.920–2A>G

Single base substitution

Splice acceptor site

Intron 8 retention or exon 9 skipping

Somatic mutation

 
 

c.919+1G>A

Single base substitution

Splice donor site

Intron 8 retention or exon 8 skipping

Somatic mutation

 
 

c.560–1G>A

Single base substitution

Splice acceptor site

Intron 5 retention or exon 6 skipping

Somatic mutation

 

MSH2

MSH2 (hg19, chr2: 47 653 051)

Invertion of AluY repeat in intron1,6

Donor site at exon1, acceptor site at exon7

Skipping of exon2-6

Germline mutation

[41]

 

c.2635-3delC

Single base missing

Acceptor site of exon 16

Part of intron 15 retention

Germline mutation

[42]

MLH1

c.545+4545+5delCA

Deletion of 2 bp in splice donor site

Donor site of exon 6

Skipping of exon 6

Germline mutation

[43]

APC

c.1226-1229delTTTTinsAAA

Insertion–deletion at codon 409

5’ end of exon 9

Skipping of exon 9

Germline mutation

[44]

HNF4a

–

Alterantive promoter

Different pre-mRNA

Skipping of exon 1

–

[47, 48]

MCL1

–

Histone acetylation

Increase H3/4 acetylation

Skiping of exon2

–

[45]

DVL

–

Histone methyation

Decrease H3K36 methylation

Intron 2 retention

–

[46]

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