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PTCH1

Basic information

Official gene symbol
patched 1
Conventional gene symbol
BCNS, NBCCS, PTC1, PTCH
Classification
Tumor suppressor gene
Official gene ID
5727(Refseq)
5727 (KEGG)
Transcript ID
NM_000264
Functional classification
Differentiation
Signaling pathway
Hedgehog
Chromosomal location
9q22.32 (chr9:98209194..98270643, complement)
Protein length
1,447

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
chr9:98268821 A AAT 2 / 24 p.F88fs c.261_262insAT   Tier2 1 / 120
chr9:98268823 AAG A 2 / 24 p.L87fs c.258_259delCT   Tier2 1 / 120
chr9:98232138 G A 13 / 24 p.R602* c.1804C>T COSV59462369 Tier2 1 / 120
chr9:98231176 C A 14 / 24 p.E703* c.2107G>T COSV59492464 Tier2 1 / 120
chr9:98231326 C A 14 / 24 p.E653* c.1957G>T   Tier2 1 / 120
chr9:98218670 ACCGTCAT A 19 / 24 p.M1063fs c.3187_3193delATGACGG   Tier2 1 / 120
chr9:98211377 C A 22 / 24 p.E1260* c.3778G>T   Tier2 1 / 120
chr9:98211562 GGGGA G 22 / 24 p.S1197fs c.3589_3592delTCCC   Tier2 1 / 120
chr9:98209568 C A 23 / 24 p.E1324* c.3970G>T   Tier2 1 / 120