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TGFBR1

Basic information

Official gene symbol
transforming growth factor beta receptor 1
Conventional gene symbol
AAT5, ALK-5, ALK5, ESS1, LDS1, LDS1A, LDS2A, MSSE, SKR4, TBR-i, TBRI, TGFR-1, tbetaR-I
Classification
Tumor suppressor gene
Official gene ID
7046(Refseq)
7046 (KEGG)
Transcript ID
NM_004612
Functional classification
Tumor growth and progression
Signaling pathway
TGF-B
Chromosomal location
9q22.33 (chr9:101867488..101911587)
Protein length
503

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
chr9:101891164 CAA C 2 / 9 p.K43fs c.128_129delAA   Tier2 1 / 74
chr9:101891360 TAAAATAG T 2 / 9 p.K108fs c.324_330delAATAGAA   Tier2 1 / 74
chr9:101894916 C T 3 / 9 p.R157* c.469C>T COSV66624800 Tier2 2 / 74
chr9:101900158 C T 4 / 9 p.Q198* c.592C>T   Tier2 1 / 74
chr9:101900209 C T 4 / 9 p.R215* c.643C>T COSV66625039 Tier2 1 / 74
chr9:101900238 G A 4 / 9 p.W224* c.672G>A   Tier2 1 / 74
chr9:101900288 C T 4 / 9 p.S241L c.722C>T COSV66624834 Tier2 4 / 74
chr9:101907047 C A 6 / 9 p.S336* c.1007C>A COSV66626522 Tier2 1 / 74
chr9:101908790 A AAACATTT 7 / 9 p.D385fs c.1154_1155insAACATTT   Tier2 1 / 74
chr9:101908873 C T 7 / 9 p.R413* c.1237C>T COSV66625422 Tier2 1 / 74
chr9:101910016 TG T 8 / 9 p.C446fs c.1337delG   Tier2 1 / 74
chr9:101910025 A T 8 / 9 p.K449* c.1345A>T   Tier2 1 / 74
chr9:101911535 G A 9 / 9 p.R487Q c.1460G>A COSV66625173 Tier2 2 / 74