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NOTCH3

Basic information

Official gene symbol
notch receptor 3
Conventional gene symbol
CADASIL, CADASIL1, CASIL, IMF2, LMNS
Classification
Oncogene / Tumor suppressor gene
Official gene ID
4854(Refseq)
4854 (KEGG)
Transcript ID
NM_000435
Functional classification
Differentiation
Signaling pathway
NOTCH
Chromosomal location
19p13.12 (chr19:15271473..15311716, complement)
Protein length
2,321

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
chr19:15303221 G A 3 / 33 p.R103* c.307C>T COSV54655561 Tier2 1 / 213
chr19:15302810 G A 4 / 33 p.Q214* c.640C>T   Tier2 1 / 213
chr19:15302984 G A 4 / 33 p.R156* c.466C>T COSV54631988 Tier2 1 / 213
chr19:15302628 G A 5 / 33 p.R244* c.730C>T   Tier2 2 / 213
chr19:15300181 G GAT 7 / 33 p.C366fs c.1093_1094dupAT   Tier2 1 / 213
chr19:15300211 A T 7 / 33 p.C355* c.1065T>A   Tier2 1 / 213
chr19:15299079 G A 9 / 33 p.R487* c.1459C>T COSV54646925 Tier2 1 / 213
chr19:15296161 G A 14 / 33 p.R735* c.2203C>T COSV54639420 Tier2 1 / 213
chr19:15295721 C T 15 / 33 p.W802* c.2406G>A   Tier2 1 / 213
chr19:15295256 G A 16 / 33 p.R806* c.2416C>T COSV54647420 Tier2 1 / 213
chr19:15291888 G A 18 / 33 p.Q960* c.2878C>T   Tier2 1 / 213
chr19:15290250 G A 21 / 33 p.Q1129* c.3385C>T   Tier2 1 / 213
chr19:15290282 TTA T 21 / 33 p.D1117fs c.3351_3352delTA   Tier2 1 / 213
chr19:15289932 C A 22 / 33 p.E1208* c.3622G>T   Tier2 1 / 213
chr19:15281362 C A 27 / 33 p.E1632* c.4894G>T   Tier2 1 / 213
chr19:15276840 C A 30 / 33 p.E1809* c.5425G>T   Tier2 1 / 213
chr19:15271868 G GT 33 / 33 p.P2191fs c.6570_6571insA   Tier2 1 / 213
chr19:15272001 CGCCCG C 33 / 33 p.R2145fs c.6433_6437delCGGGC   Tier2 1 / 213
chr19:15272444 C A 33 / 33 p.E1999* c.5995G>T   Tier2 1 / 213
chr19:15272483 CATAGCTGCCCTCGCGGGCGGCCAGGA C 33 / 33 p.F1977fs c.5930_5955delTCCTGGCCGCCCGCGAGGGCAGCTAT   Tier2 1 / 213