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 |