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TSC1

Basic information

Official gene symbol
TSC complex subunit 1
Conventional gene symbol
TSC
Classification
Tumor suppressor gene
Official gene ID
7248(Refseq)
7248 (KEGG)
Transcript ID
NM_000368
Functional classification
Tumor growth and progression
Signaling pathway
PI3K/Akt/mTOR
Chromosomal location
9q34.13 (chr9:135771622..135804259, complement)
Protein length
1,164

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
chr9:135801039 G A 5 / 23 p.Q100* c.298C>T   Tier2 1 / 95
chr9:135801105 C A 5 / 23 p.E78* c.232G>T COSV53765645 Tier2 1 / 95
chr9:135798859 GACA G 6 / 23 p.V128del c.381_383delTGT COSV53767756 Tier2 1 / 95
chr9:135797330 A G 7 / 23 p.L180P c.539T>C   Tier2 1 / 95
chr9:135796805 G A 8 / 23 p.R228* c.682C>T COSV53767064 Tier2 2 / 95
chr9:135782182 ATCACTTAGAGTGAC A 14 / 23 p.V454fs c.1360_1373delGTCACTCTAAGTGA   Tier2 1 / 95
chr9:135781248 G A 15 / 23 p.Q573* c.1717C>T   Tier2 1 / 95
chr9:135781386 G A 15 / 23 p.Q527* c.1579C>T COSV53763886 Tier2 1 / 95
chr9:135781440 G A 15 / 23 p.R509* c.1525C>T COSV53764587 Tier2 1 / 95
chr9:135781448 GGA G 15 / 23 p.P506fs c.1515_1516delTC   Tier2 1 / 95
chr9:135778009 G A 18 / 23 p.Q792* c.2374C>T   Tier2 1 / 95
chr9:135772964 C A 21 / 23 p.E887* c.2659G>T   Tier2 1 / 95
chr9:135772018 T TC 23 / 23 p.G1034fs c.3098dupG   Tier2 1 / 95