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SMAD4

Basic information

Official gene symbol
SMAD family member 4
Conventional gene symbol
DPC4, JIP, MADH4, MYHRS
Classification
Tumor suppressor gene
Official gene ID
4089(Refseq)
4089 (KEGG)
Transcript ID
NM_005359
Functional classification
Tumor growth and progression
Signaling pathway
TGF-B
Chromosomal location
18q21.2 (chr18:48573417..48604837)
Protein length
552

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
chr18:48573504 GGA G 2 / 12 p.S32fs c.94_95delAG COSV61685245 Tier2 3 / 185
chr18:48573507 G T 2 / 12 p.E31* c.91G>T   Tier2 1 / 185
chr18:48573573 G T 2 / 12 p.E53* c.157G>T COSV61691604 Tier2 1 / 185
chr18:48573639 C T 2 / 12 p.Q75* c.223C>T   Tier2 1 / 185
chr18:48575111 C T 3 / 12 p.P102L c.305C>T COSV61696589 Tier2 1 / 185
chr18:48575206 G T 3 / 12 p.E134* c.400G>T   Tier2 1 / 185
chr18:48575671 C G 4 / 12 p.S144* c.431C>G COSV61685296 Tier2 2 / 185
chr18:48581253 C CA 5 / 12 p.S187fs c.559dupA   Tier2 1 / 185
chr18:48581335 C CTT 5 / 12 p.P215fs c.641_642dupTT   Tier2 1 / 185
chr18:48584499 GC G 6 / 12 p.P225fs c.674delC   Tier2 1 / 185
chr18:48584540 T A 6 / 12 p.L238* c.713T>A   Tier2 1 / 185
chr18:48584560 C T 6 / 12 p.Q245* c.733C>T COSV61684971 Tier2 1 / 185
chr18:48584569 C T 6 / 12 p.Q248* c.742C>T COSV61689992 Tier2 1 / 185
chr18:48584593 C T 6 / 12 p.Q256* c.766C>T COSV61686540 Tier2 1 / 185
chr18:48584607 C G 6 / 12 p.Y260* c.780C>G   Tier2 1 / 185
chr18:48584722 CCTGGA C 7 / 12 p.T269fs c.806_810delCTGGA   Tier2 1 / 185
chr18:48586232 T TTAGG 8 / 12 p.W302fs c.905-3_905dupTAGG   Tier2 1 / 185
chr18:48586262 C T 8 / 12 p.Q311* c.931C>T COSV61687817 Tier2 1 / 185
chr18:48591806 G A 9 / 12 p.W323* c.969G>A   Tier2 1 / 185
chr18:48591808 G A 9 / 12 p.C324Y c.971G>A COSV61695700 Tier2 1 / 185
chr18:48591816 GCTTA G 9 / 12 p.Y328fs c.983_986delACTT   Tier2 1 / 185
chr18:48591825 G T 9 / 12 p.E330* c.988G>T COSV61684539 Tier2 1 / 185
chr18:48591826 A C 9 / 12 p.E330A c.989A>C COSV61694916 Tier1 1 / 185
chr18:48591837 C T 9 / 12 p.Q334* c.1000C>T COSV61687277 Tier2 1 / 185
chr18:48591888 G C 9 / 12 p.D351H c.1051G>C COSV61684645 Tier1 1 / 185
chr18:48591918 C T 9 / 12 p.R361C c.1081C>T COSV61683972 Tier1 7 / 185
chr18:48591918 C G 9 / 12 p.R361G c.1081C>G COSV61686083 Tier2 4 / 185
chr18:48591918 C A 9 / 12 p.R361S c.1081C>A COSV61685418 Tier1 2 / 185
chr18:48591919 G A 9 / 12 p.R361H c.1082G>A COSV61684056 Tier1 21 / 185
chr18:48591947 C CG 9 / 12 p.H371fs c.1110_1111insG   Tier2 1 / 185
chr18:48593405 G T 10 / 12 p.G386C c.1156G>T COSV61697840 Tier2 1 / 185
chr18:48593406 G T 10 / 12 p.G386V c.1157G>T COSV61688134 Tier2 1 / 185
chr18:48593505 G T 10 / 12 p.G419V c.1256G>T COSV61685351 Tier2 1 / 185
chr18:48604656 A C 12 / 12 p.D493A c.1478A>C COSV61689238 Tier2 1 / 185
chr18:48604665 G A 12 / 12 p.R496H c.1487G>A COSV61684216 Tier2 5 / 185
chr18:48604668 G A 12 / 12 p.R497H c.1490G>A COSV61687877 Tier2 4 / 185
chr18:48604705 G A 12 / 12 p.W509* c.1527G>A COSV61689637 Tier2 1 / 185
chr18:48604736 G T 12 / 12 p.E520* c.1558G>T COSV61685467 Tier2 1 / 185
chr18:48604747 C A 12 / 12 p.C523* c.1569C>A COSV100747628 Tier2 1 / 185
chr18:48604764 T TA 12 / 12 p.H530fs c.1587dupA COSV61687828 Tier2 1 / 185
chr18:48604778 C T 12 / 12 p.Q534* c.1600C>T COSV61688543 Tier2 1 / 185
chr18:48604787 G T 12 / 12 p.D537Y c.1609G>T COSV61684436 Tier1 1 / 185
chr18:48604788 A G 12 / 12 p.D537G c.1610A>G COSV61685387 Tier2 4 / 185
chr18:48604789 C A 12 / 12 p.D537E c.1611C>A COSV61687202 Tier2 1 / 185
chr18:48604790 G T 12 / 12 p.E538* c.1612G>T COSV61684525 Tier2 2 / 185