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Table 1 Predominant splicing events distribution by tissue

From: BRCA1 Alternative splicing landscape in breast tissue samples

    

Breast tumor

Healthy breast tissue

Blood-derived samples

Variant name

HGVS description

Functional annotation

Biotype

Frequency predominant

Frequency predominant

P 1

Frequency predominant

P 2

Δ8p

c.442_444del3

No FS

Splice acceptor shifts

1.000

1.000

NS

1.000

NS

Δ14p

c.4358_4360del3

No FS

Splice acceptor shifts

1.000

1.000

NS

1.000

NS

Δ1Aq

c.-25_-20del6

UTR

Splice donor shifts

1.000

1.000

NS

1.000

NS

Δ9,10

c.548_670del123

No FS

multi-cassette

0.971

1.000

NS

0.988

NS

Δ5q

c.191_212del22

PTC-NMD

Splice donor shifts

0.857

0.750

NS

0.391

0.001

Δ13

c.4186_4357del172

PTC-NMD

Cassette

0.357

0.000

NS

0.000

0.049

Δ9

c.548_593del46

PTC-NMD

Cassette

0.203

0.000

NS

0.000

0.0175

Δ5

c.135 _212del78

No FS

Cassette

0.200

0.250

NS

0.000

0.0001

Δ2

c.-19_80del99

Non-Coding

Cassette

0.200

0.250

NS

0.333

NS

1aA

c.-20 + 1_-20 + 89ins89

UTR

Splice donor shifts

0.157

0.000

NS

0.000

0.006

Δ22

c.5333_5406del74

FS-alternative STOP

Cassette

0.129

0.000

NS

0.031

NS

Δ2p

c.-19_-7del13

UTR

Splice acceptor shifts

0.114

0.000

NS

0.059

NS

Δ10

c.594_670del77

PTC-NMD

Cassette

0.087

0.000

NS

0.000

0.07

4

c.135-4047_135-3932ins116

PTC-NMD

Cassette

0.086

0.000

NS

0.000

0.07

Δ8_10

c.442_670del229

PTC-NMD

multi-cassette

0.072

0.000

NS

0.000

0.082

Δ3

c.81_134del54

PTC-NMD

Cassette

0.071

0.000

NS

0.071

NS

Δ21

c.5278_5332del55

PTC-NMD

Cassette

0.071

0.000

NS

0.000

NS

Δ15

c.4485_4675del190

PTC-NMD

Cassette

0.071

0.000

NS

0.000

NS

Δ21_23

c.5278_5467de

FS-alternative STOP

multi-cassette

0.071

0.000

NS

0.034

NS

Δ2,3

c.-19_134del153

Non-Coding

multi-cassette

0.043

0.000

NS

0.023

NS

13A

c.4358-2785_4358-2729ins66

No FS

Cassette

0.043

0.000

NS

0.000

NS

Δ21,22

c.5278_5406del129

No FS

multi-cassette

0.043

0.000

NS

0.000

NS

Δ8,9

c.442_593del152

PTC-NMD

multi-cassette

0.014

0.000

NS

0.000

NS

Δ17

c.4987_5074del88

PTC-NMD

Cassette

0.014

0.000

NS

0.000

NS

Δ22,23

c.5333_5467del135

FS-alternative STOP

multi-cassette

0.014

0.000

NS

0.000

NS

Δ13p

c.4186_4188del3

No FS

Splice acceptor shifts

0.014

0.000

NS

0.000

NS

Δ15_17

c.4485_5074del590

PTC-NMD

multi-cassette

0.014

0.000

NS

0.000

NS

  1. P1 for significance of Fisher exact test for differences between observed and expected values of AS events frequency distribution in breast tumor samples and healthy breast samples. P2 for significance of ×2 statistic or Fisher exact test, when appropriate, for differences between observed and expected values of AS events frequency distribution in breast tumor samples and blood-derived samples. Note that none of the 27 AS events listed is annotated more frequently as predominant in blood- derived sample.