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PIK3R1
Basic information
- Official gene symbol
-
phosphoinositide-3-kinase regulatory subunit 1
- Conventional gene symbol
-
AGM7, GRB1, IMD36, p85-ALPHA
- Classification
-
Tumor suppressor gene
- Official gene ID
- Transcript ID
- Functional classification
-
Tumor growth and progression
- Signaling pathway
-
PI3K/Akt/mTOR
- Chromosomal location
-
5q13.1 (chr5:67522504..67593429)
- Protein length
-
724
Chromosome ideogram
Pathway map
Frequency of somatic alterationsTumor type
Base substitutions, insertions, and deletions
Copy number alterations
Distribution of tumor mutation burdenTMB
List of driver somatic mutations
| Genomic Coordinates (GRCh37/hg19) | Reference | Variant | Exon | Amino Acid change | Coding DNA change | COSMIC (v92) | Classification | No. of Samples |
|---|---|---|---|---|---|---|---|---|
| chr5:67522602 | TAA | T | 2 / 16 | p.K34fs | c.101_102delAA | Tier2 | 1 / 135 | |
| chr5:67522657 | G | T | 2 / 16 | p.E52* | c.154G>T | COSV57124346 | Tier2 | 1 / 135 |
| chr5:67522726 | G | T | 2 / 16 | p.E75* | c.223G>T | Tier2 | 2 / 135 | |
| chr5:67522748 | TCTCGC | T | 2 / 16 | p.P84fs | c.249_253delGCCTC | Tier2 | 1 / 135 | |
| chr5:67569823 | C | T | 4 / 16 | p.R162* | c.484C>T | COSV57127263 | Tier2 | 1 / 135 |
| chr5:67576373 | G | T | 6 / 16 | p.E218* | c.652G>T | COSV57137973 | Tier2 | 1 / 135 |
| chr5:67588153 | TA | T | 8 / 16 | p.L328fs | c.984delA | Tier2 | 1 / 135 | |
| chr5:67588951 | C | T | 9 / 16 | p.R348* | c.1042C>T | COSV57123475 | Tier1 | 4 / 135 |
| chr5:67589138 | G | C | 10 / 16 | p.G376R | c.1126G>C | COSV57133701 | Tier2 | 1 / 135 |
| chr5:67589138 | G | A | 10 / 16 | p.G376R | c.1126G>A | COSV57123316 | Tier2 | 1 / 135 |
| chr5:67589147 | A | G | 10 / 16 | p.K379E | c.1135A>G | COSV57124239 | Tier1 | 1 / 135 |
| chr5:67589168 | C | T | 10 / 16 | p.R386* | c.1156C>T | COSV57126203 | Tier2 | 5 / 135 |
| chr5:67589549 | AAAG | A | 11 / 16 | p.E439del | c.1317_1319delAGA | COSV57133720 | Tier2 | 1 / 135 |
| chr5:67589593 | T | A | 11 / 16 | p.Y452* | c.1356T>A | Tier2 | 1 / 135 | |
| chr5:67589606 | C | T | 11 / 16 | p.Q457* | c.1369C>T | Tier2 | 1 / 135 | |
| chr5:67589618 | C | T | 11 / 16 | p.R461* | c.1381C>T | COSV57125001 | Tier2 | 2 / 135 |
| chr5:67590432 | C | A | 12 / 16 | p.C498* | c.1494C>A | COSV57139021 | Tier2 | 1 / 135 |
| chr5:67591007 | C | T | 13 / 16 | p.R534* | c.1600C>T | COSV57137455 | Tier2 | 1 / 135 |
| chr5:67591076 | C | T | 13 / 16 | p.R557* | c.1669C>T | COSV57125577 | Tier2 | 2 / 135 |
| chr5:67591085 | G | T | 13 / 16 | p.D560Y | c.1678G>T | COSV57123942 | Tier2 | 1 / 135 |
| chr5:67591097 | A | G | 13 / 16 | p.N564D | c.1690A>G | COSV57124003 | Tier1 | 4 / 135 |
| chr5:67591113 | A | ACCTT | 13 / 16 | p.I571fs | c.1707_1710dupCCTT | Tier2 | 1 / 135 | |
| chr5:67591131 | AGAC | A | 13 / 16 | p.T576del | c.1727_1729delCGA | COSV57124497 | Tier1 | 1 / 135 |
| chr5:67591135 | GAGAGACCAATACTTGATGT | G | 13 / 16 | p.R577fs | c.1730_1745+3delGAGACCAATACTTGATGTA | COSV57137283 | Tier2 | 1 / 135 |
| chr5:67591312 | G | T | 14 / 16 | p.E604* | c.1810G>T | Tier2 | 2 / 135 | |
| chr5:67592075 | C | T | 15 / 16 | p.R631* | c.1891C>T | COSV57134805 | Tier2 | 1 / 135 |
| chr5:67592108 | C | T | 15 / 16 | p.R642* | c.1924C>T | COSV57123056 | Tier2 | 2 / 135 |
| chr5:67592163 | C | CTG | 15 / 16 | p.V662fs | c.1981_1982dupGT | COSV99140531 | Tier2 | 2 / 135 |
| chr5:67592165 | G | GT | 15 / 16 | p.V662fs | c.1982dupT | Tier2 | 1 / 135 | |
| chr5:67593269 | TAAAC | T | 16 / 16 | p.N673fs | c.2019_2022delCAAA | COSV99073799 | Tier2 | 1 / 135 |
| chr5:67593331 | G | T | 16 / 16 | p.E693* | c.2077G>T | Tier2 | 1 / 135 |
