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NOTCH1

Basic information

Official gene symbol
notch receptor 1
Conventional gene symbol
AOS5, AOVD1, TAN1, hN1
Classification
Oncogene / Tumor suppressor gene
Official gene ID
4851(Refseq)
4851 (KEGG)
Transcript ID
NM_017617
Functional classification
Differentiation
Signaling pathway
NOTCH
Chromosomal location
9q34.3 (chr9:139390523..139440238, complement)
Protein length
2,555

Chromosome ideogram

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
chr9:139438540 G A 2 / 34 p.Q26* c.76C>T   Tier2 1 / 272
chr9:139418339 TCCACCACGTGGCATGTCCCGGCGTTCTTGCA T 3 / 34 p.C68fs c.202_232delTGCAAGAACGCCGGGACATGCCACGTGGTGG   Tier2 1 / 272
chr9:139418400 G A 3 / 34 p.Q58* c.172C>T   Tier2 1 / 272
chr9:139417477 G T 4 / 34 p.C189* c.567C>A   Tier2 1 / 272
chr9:139417556 ATG A 4 / 34 p.I163fs c.486_487delCA   Tier2 1 / 272
chr9:139417634 G T 4 / 34 p.S137* c.410C>A   Tier2 1 / 272
chr9:139413923 G T 5 / 34 p.Y279* c.837C>A   Tier2 1 / 272
chr9:139413997 C A 5 / 34 p.E255* c.763G>T   Tier2 1 / 272
chr9:139412321 G A 8 / 34 p.Q442* c.1324C>T COSV53049863 Tier2 1 / 272
chr9:139411805 C CT 9 / 34 p.D492fs c.1473dupA   Tier2 1 / 272
chr9:139410452 G GT 10 / 34 p.Y550fs c.1649dupA COSV53025560 Tier2 1 / 272
chr9:139410455 A AGT 10 / 34 p.Y550fs c.1645_1646dupAC   Tier2 1 / 272
chr9:139410521 G C 10 / 34 p.Y527* c.1581C>G   Tier2 1 / 272
chr9:139409060 GC G 13 / 34 p.R703fs c.2108delG   Tier2 1 / 272
chr9:139409077 TGATGCCGTCCTCGCAG T 13 / 34 p.C693fs c.2076_2091delCTGCGAGGACGGCATC   Tier2 1 / 272
chr9:139407925 C A 14 / 34 p.E758* c.2272G>T   Tier2 1 / 272
chr9:139407553 GCA G 15 / 34 p.A796fs c.2385_2386delTG   Tier2 1 / 272
chr9:139405664 C A 16 / 34 p.E843* c.2527G>T COSV53039854 Tier2 1 / 272
chr9:139405159 G A 17 / 34 p.Q896* c.2686C>T COSV53102866 Tier2 1 / 272
chr9:139405192 G A 17 / 34 p.Q885* c.2653C>T COSV53099073 Tier2 1 / 272
chr9:139404349 G GT 18 / 34 p.G936fs c.2804_2805insA   Tier2 1 / 272
chr9:139403380 T TCCTGACAGGTG 19 / 34 p.D1038fs c.3102_3112dupCACCTGTCAGG   Tier2 1 / 272
chr9:139402775 G GTGGGTCTGCCAGCATTTGC 20 / 34 p.H1078fs c.3215_3233dupGCAAATGCTGGCAGACCCA   Tier2 1 / 272
chr9:139402785 C T 20 / 34 p.W1075* c.3224G>A COSV99493676 Tier2 1 / 272
chr9:139402807 AGGGC A 20 / 34 p.P1067fs c.3198_3201delGCCC   Tier2 1 / 272
chr9:139402567 T TG 21 / 34 p.Q1117fs c.3349dupC   Tier2 1 / 272
chr9:139401760 G A 22 / 34 p.Q1214* c.3640C>T COSV53031275 Tier2 1 / 272
chr9:139401256 G T 23 / 34 p.C1271* c.3813C>A   Tier2 1 / 272
chr9:139401261 C A 23 / 34 p.E1270* c.3808G>T   Tier2 1 / 272
chr9:139400978 CCG C 24 / 34 p.A1338fs c.4013_4014delCG   Tier2 1 / 272
chr9:139399888 C T 25 / 34 p.W1487* c.4460G>A COSV53031807 Tier2 1 / 272
chr9:139399191 G T 26 / 34 p.S1651* c.4952C>A   Tier2 1 / 272
chr9:139399237 C A 26 / 34 p.E1636* c.4906G>T   Tier2 1 / 272
chr9:139399456 C A 26 / 34 p.E1563* c.4687G>T   Tier2 1 / 272
chr9:139399481 G T 26 / 34 p.C1554* c.4662C>A   Tier2 1 / 272
chr9:139397646 C A 27 / 34 p.E1719* c.5155G>T COSV99490401 Tier2 1 / 272
chr9:139396859 ACGAAGAACAGAAG A 28 / 34 p.L1746fs c.5236_5248delCTTCTGTTCTTCG   Tier2 1 / 272
chr9:139396479 C A 29 / 34 p.E1816* c.5446G>T   Tier2 1 / 272
chr9:139396275 TGC T 30 / 34 p.R1854fs c.5561_5562delGC   Tier2 1 / 272
chr9:139395053 CG C 31 / 34 p.R1962fs c.5884delC   Tier2 1 / 272
chr9:139393596 G C 32 / 34 p.S2017* c.6050C>G COSV53042787 Tier2 1 / 272
chr9:139393696 G A 32 / 34 p.R1984* c.5950C>T COSV53039810 Tier2 2 / 272