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PTEN

Basic information

Official gene symbol
phosphatase and tensin homolog
Conventional gene symbol
BZS, CWS1, DEC, GLM2, MHAM, MMAC1, PTEN1, PTENbeta, TEP1
Classification
Tumor suppressor gene
Official gene ID
5728(Refseq)
5728 (KEGG)
Transcript ID
NM_000314
Functional classification
Tumor growth and progression
Signaling pathway
PI3K/Akt/mTOR
Chromosomal location
10q23.31 (chr10:89624227..89725229)
Protein length
403

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
chr10:89624240 TCAAA T 1 / 9 p.I5fs c.15_18delCAAA   Tier2 1 / 218
chr10:89624245 G T 1 / 9 p.E7* c.19G>T COSV64288471 Tier2 4 / 218
chr10:89624255 G GC 1 / 9 p.R11fs c.30dupC   Tier2 1 / 218
chr10:89624257 AG A 1 / 9 p.R11fs c.32delG   Tier2 1 / 218
chr10:89624261 ACAAAAGGAGATAT A 1 / 9 p.R15fs c.39_51delAAGGAGATATCAA   Tier2 1 / 218
chr10:89624265 AAGGAGATATCAAG A 1 / 9 p.R15fs c.44_56delGATATCAAGAGGA   Tier2 1 / 218
chr10:89624279 A AGGAT 1 / 9 p.F21fs c.58_61dupGGAT   Tier2 1 / 218
chr10:89624282 A AT 1 / 9 p.G20fs c.57dupT   Tier2 1 / 218
chr10:89624290 GA G 1 / 9 p.D22fs c.65delA   Tier2 1 / 218
chr10:89624296 G A 1 / 9 p.D24N c.70G>A COSV64295411 Tier2 1 / 218
chr10:89624297 A AC 1 / 9 p.T26fs c.72dupC COSV64303628 Tier2 1 / 218
chr10:89653831 A AGGCGT 2 / 9 p.Y46fs c.130_134dupGGCGT   Tier2 1 / 218
chr10:89653845 AC A 2 / 9 p.N48fs c.144delC   Tier2 1 / 218
chr10:89653849 TATTG T 2 / 9 p.I50fs c.150_153delTGAT   Tier2 1 / 218
chr10:89685281 C G 3 / 9 p.S59* c.176C>G COSV64296058 Tier2 1 / 218
chr10:89685281 C A 3 / 9 p.S59* c.176C>A COSV64294267 Tier2 1 / 218
chr10:89690821 T G 4 / 9 p.Y76* c.228T>G COSV64307557 Tier2 1 / 218
chr10:89692775 C T 5 / 9 p.Q87* c.259C>T COSV64289438 Tier2 1 / 218
chr10:89692779 A AT 5 / 9 p.P89fs c.264dupT   Tier2 1 / 218
chr10:89692786 TG T 5 / 9 p.E91fs c.271delG   Tier2 1 / 218
chr10:89692787 G T 5 / 9 p.E91* c.271G>T COSV64292991 Tier2 1 / 218
chr10:89692790 G C 5 / 9 p.D92H c.274G>C COSV64295612 Tier1 1 / 218
chr10:89692791 A T 5 / 9 p.D92V c.275A>T COSV64302611 Tier1 1 / 218
chr10:89692791 A G 5 / 9 p.D92G c.275A>G COSV64288500 Tier1 1 / 218
chr10:89692792 C A 5 / 9 p.D92E c.276C>A COSV64288954 Tier1 1 / 218
chr10:89692793 C T 5 / 9 p.H93Y c.277C>T COSV64289544 Tier1 1 / 218
chr10:89692794 A G 5 / 9 p.H93R c.278A>G COSV64296545 Tier1 1 / 218
chr10:89692800 C T 5 / 9 p.P95L c.284C>T COSV64288477 Tier1 1 / 218
chr10:89692803 C A 5 / 9 p.P96Q c.287C>A COSV64296626 Tier1 1 / 218
chr10:89692832 G T 5 / 9 p.E106* c.316G>T COSV100910130 Tier2 1 / 218
chr10:89692835 G T 5 / 9 p.D107Y c.319G>T COSV64296475 Tier2 2 / 218
chr10:89692839 T C 5 / 9 p.L108P c.323T>C COSV64296046 Tier2 1 / 218
chr10:89692849 G A 5 / 9 p.W111* c.333G>A COSV64289174 Tier2 1 / 218
chr10:89692883 C G 5 / 9 p.H123D c.367C>G COSV64294365 Tier1 1 / 218
chr10:89692886 T A 5 / 9 p.C124S c.370T>A COSV64288968 Tier2 1 / 218
chr10:89692892 G T 5 / 9 p.A126S c.376G>T COSV64296979 Tier1 1 / 218
chr10:89692893 C A 5 / 9 p.A126D c.377C>A COSV64290343 Tier1 1 / 218
chr10:89692893 C G 5 / 9 p.A126G c.377C>G COSV64290444 Tier1 1 / 218
chr10:89692900 G T 5 / 9 p.K128N c.384G>T COSV64289333 Tier1 1 / 218
chr10:89692901 G A 5 / 9 p.G129R c.385G>A COSV64288557 Tier1 1 / 218
chr10:89692904 C G 5 / 9 p.R130G c.388C>G COSV64288384 Tier1 11 / 218
chr10:89692904 C T 5 / 9 p.R130* c.388C>T COSV64288463 Tier1 3 / 218
chr10:89692904 CG C 5 / 9 p.R130fs c.389delG COSV64290765 Tier2 1 / 218
chr10:89692905 G A 5 / 9 p.R130Q c.389G>A COSV64288376 Tier1 17 / 218
chr10:89692922 T C 5 / 9 p.C136R c.406T>C COSV64289087 Tier1 2 / 218
chr10:89692935 T G 5 / 9 p.L140* c.419T>G COSV64289095 Tier2 1 / 218
chr10:89692945 C CAT 5 / 9 p.K144fs c.430_431insTA   Tier2 1 / 218
chr10:89692949 TTTTTAAAGGC T 5 / 9 p.F145fs c.434_443delTTTTAAAGGC   Tier2 1 / 218
chr10:89692961 C T 5 / 9 p.Q149* c.445C>T COSV64288740 Tier2 1 / 218
chr10:89692964 G T 5 / 9 p.E150* c.448G>T COSV64289396 Tier2 2 / 218
chr10:89692980 A G 5 / 9 p.Y155C c.464A>G COSV64291751 Tier1 1 / 218
chr10:89692986 A G 5 / 9 p.E157G c.470A>G   Tier1 1 / 218
chr10:89693001 A G 5 / 9 p.D162G c.485A>G COSV64301645 Tier1 1 / 218
chr10:89711875 G A 6 / 9 p.G165R c.493G>A COSV64289126 Tier2 1 / 218
chr10:89711882 C CT 6 / 9 p.I168fs c.501dupT   Tier2 1 / 218
chr10:89711891 G A 6 / 9 p.S170N c.509G>A COSV64288690 Tier2 1 / 218
chr10:89711899 C T 6 / 9 p.R173C c.517C>T COSV64288569 Tier2 5 / 218
chr10:89711900 G A 6 / 9 p.R173H c.518G>A COSV64288961 Tier1 10 / 218
chr10:89711917 AG A 6 / 9 p.S179fs c.536delG   Tier2 1 / 218
chr10:89711971 A T 6 / 9 p.K197* c.589A>T   Tier2 1 / 218
chr10:89712007 G T 6 / 9 p.G209* c.625G>T COSV64294737 Tier2 1 / 218
chr10:89712015 C A 6 / 9 p.C211* c.633C>A COSV64294019 Tier1 1 / 218
chr10:89717615 C T 7 / 9 p.Q214* c.640C>T COSV64290622 Tier2 1 / 218
chr10:89717629 C A 7 / 9 p.C218* c.654C>A COSV64288514 Tier2 1 / 218
chr10:89717630 C T 7 / 9 p.Q219* c.655C>T COSV64289965 Tier2 1 / 218
chr10:89717636 A T 7 / 9 p.K221* c.661A>T COSV64292017 Tier2 1 / 218
chr10:89717646 T TA 7 / 9 p.Y225fs c.672dupA COSV64293913 Tier2 1 / 218
chr10:89717672 C T 7 / 9 p.R233* c.697C>T COSV64288653 Tier1 12 / 218
chr10:89717678 G T 7 / 9 p.E235* c.703G>T COSV64291436 Tier2 1 / 218
chr10:89717697 T C 7 / 9 p.F241S c.722T>C COSV64294827 Tier1 1 / 218
chr10:89717698 TG T 7 / 9 p.E242fs c.724delG   Tier2 1 / 218
chr10:89717700 AGTTCCCTCAGC A 7 / 9 p.E242fs c.726_736delGTTCCCTCAGC   Tier2 1 / 218
chr10:89717718 CTG C 7 / 9 p.C250fs c.750_751delTG COSV64288359 Tier2 1 / 218
chr10:89717727 GT G 7 / 9 p.D252fs c.753delT COSV64289875 Tier2 1 / 218
chr10:89717756 C T 7 / 9 p.Q261* c.781C>T COSV64294889 Tier2 1 / 218
chr10:89717756 CAG C 7 / 9 p.N262fs c.783_784delGA COSV64289013 Tier2 1 / 218
chr10:89720671 G A 8 / 9 p.W274* c.822G>A COSV64292178 Tier2 1 / 218
chr10:89720678 A G 8 / 9 p.T277A c.829A>G COSV64298496 Tier2 1 / 218
chr10:89720693 G T 8 / 9 p.G282* c.844G>T COSV64292277 Tier2 2 / 218
chr10:89720709 CAG C 8 / 9 p.E288fs c.862_863delGA COSV64304394 Tier2 1 / 218
chr10:89720709 C A 8 / 9 p.S287* c.860C>A   Tier2 1 / 218
chr10:89720725 TG T 8 / 9 p.G293fs c.878delG COSV64295414 Tier2 1 / 218
chr10:89720744 G T 8 / 9 p.E299* c.895G>T COSV64293312 Tier2 7 / 218
chr10:89720789 G T 8 / 9 p.E314* c.940G>T COSV64297686 Tier2 1 / 218
chr10:89720793 ATCTAGT A 8 / 9 p.Y315_V317delins* c.945_950delTCTAGT   Tier2 1 / 218
chr10:89720794 T G 8 / 9 p.Y315* c.945T>G COSV64301587 Tier2 1 / 218
chr10:89720794 TCTAGTACTTACTTTAACAAAAA T 8 / 9 p.L316fs c.946_967delCTAGTACTTACTTTAACAAAAA   Tier2 1 / 218
chr10:89720852 C T 8 / 9 p.R335* c.1003C>T COSV64288687 Tier1 2 / 218
chr10:89720857 C A 8 / 9 p.Y336* c.1008C>A COSV64294380 Tier2 1 / 218
chr10:89720870 T G 8 / 9 p.F341V c.1021T>G COSV64288696 Tier1 5 / 218