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AMER1

Basic information

Official gene symbol
APC membrane recruitment protein 1
Conventional gene symbol
FAM123B, OSCS, WTX
Classification
Tumor suppressor gene
Official gene ID
139285(Refseq)
139285 (KEGG)
Transcript ID
NM_152424
Functional classification
Differentiation
Signaling pathway
WNT
Chromosomal location
Xq11.2 (chrX:63409759..63413166, complement)
Protein length
1,135

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
chrX:63410022 G A 2 / 2 p.R1049* c.3145C>T   Tier2 1 / 193
chrX:63410162 G T 2 / 2 p.S1002* c.3005C>A   Tier2 1 / 193
chrX:63410856 G A 2 / 2 p.Q771* c.2311C>T   Tier2 2 / 193
chrX:63410970 G A 2 / 2 p.Q733* c.2197C>T COSV57661407 Tier2 1 / 193
chrX:63411182 G T 2 / 2 p.S662* c.1985C>A   Tier2 1 / 193
chrX:63411276 G A 2 / 2 p.R631* c.1891C>T COSV57653855 Tier2 5 / 193
chrX:63411288 C A 2 / 2 p.E627* c.1879G>T   Tier2 1 / 193
chrX:63411291 G A 2 / 2 p.R626* c.1876C>T COSV57655083 Tier2 3 / 193
chrX:63411333 C A 2 / 2 p.E612* c.1834G>T   Tier2 1 / 193
chrX:63411366 G A 2 / 2 p.R601* c.1801C>T COSV57659668 Tier2 2 / 193
chrX:63411378 C A 2 / 2 p.E597* c.1789G>T COSV57666229 Tier2 1 / 193
chrX:63411411 G A 2 / 2 p.R586* c.1756C>T COSV57666208 Tier2 6 / 193
chrX:63411432 C A 2 / 2 p.E579* c.1735G>T COSV100365513 Tier2 1 / 193
chrX:63411438 G A 2 / 2 p.Q577* c.1729C>T COSV57654453 Tier2 1 / 193
chrX:63411567 C A 2 / 2 p.E534* c.1600G>T COSV104634833 Tier2 1 / 193
chrX:63411576 G A 2 / 2 p.R531* c.1591C>T COSV57662882 Tier2 6 / 193
chrX:63411599 TC T 2 / 2 p.D523fs c.1567delG   Tier2 1 / 193
chrX:63411648 C A 2 / 2 p.E507* c.1519G>T COSV99042651 Tier2 2 / 193
chrX:63411678 G A 2 / 2 p.R497* c.1489C>T COSV57655167 Tier2 14 / 193
chrX:63411762 C A 2 / 2 p.E469* c.1405G>T COSV57654627 Tier2 1 / 193
chrX:63411783 C A 2 / 2 p.E462* c.1384G>T COSV57658549 Tier2 3 / 193
chrX:63411786 G A 2 / 2 p.Q461* c.1381C>T COSV57660766 Tier2 1 / 193
chrX:63411798 G A 2 / 2 p.Q457* c.1369C>T   Tier2 2 / 193
chrX:63411806 A T 2 / 2 p.L454* c.1361T>A   Tier2 1 / 193
chrX:63411816 C CA 2 / 2 p.G451fs c.1350dupT   Tier2 1 / 193
chrX:63411857 AT A 2 / 2 p.M437fs c.1309delA   Tier2 1 / 193
chrX:63411969 C A 2 / 2 p.E400* c.1198G>T COSV104634832 Tier2 1 / 193
chrX:63411996 C A 2 / 2 p.E391* c.1171G>T COSV57665391 Tier2 1 / 193
chrX:63412008 C A 2 / 2 p.E387* c.1159G>T COSV57671925 Tier2 1 / 193
chrX:63412095 G A 2 / 2 p.R358* c.1072C>T COSV57654223 Tier2 8 / 193
chrX:63412110 G A 2 / 2 p.R353* c.1057C>T COSV57654256 Tier2 5 / 193
chrX:63412164 G A 2 / 2 p.Q335* c.1003C>T COSV57658484 Tier2 1 / 193
chrX:63412166 TC T 2 / 2 p.E334fs c.1000delG   Tier2 1 / 193
chrX:63412167 C A 2 / 2 p.E334* c.1000G>T COSV57667023 Tier2 1 / 193
chrX:63412196 G T 2 / 2 p.S324* c.971C>A COSV57665666 Tier2 3 / 193
chrX:63412298 CCT C 2 / 2 p.K292fs c.867_868delAG   Tier2 1 / 193
chrX:63412305 C A 2 / 2 p.E288* c.862G>T   Tier2 1 / 193
chrX:63412320 C A 2 / 2 p.E283* c.847G>T COSV57660294 Tier2 1 / 193
chrX:63412350 TG T 2 / 2 p.K273fs c.816delC   Tier2 1 / 193
chrX:63412356 G A 2 / 2 p.Q271* c.811C>T   Tier2 1 / 193
chrX:63412809 A AAGGC 2 / 2 p.L120fs c.354_357dupGCCT   Tier2 1 / 193
chrX:63412848 C A 2 / 2 p.E107* c.319G>T   Tier2 1 / 193
chrX:63412978 CT C 2 / 2 p.K63fs c.188delA   Tier2 1 / 193
chrX:63413006 TTCTTCAGC T 2 / 2 p.L52fs c.153_160delGCTGAAGA   Tier2 1 / 193