| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 8643 |
Name | PTCH2 |
Synonymous | PTC2;patched 2;PTCH2;patched 2 |
Definition | patched homolog 2|protein patched homolog 2 |
Position | 1p34.1 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for PTCH2 | ||
PCGP somatic mutation [Top] | ||
There is no record for PTCH2 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.1207C>A; p.L403M; |
lung | carcinoma; adenocarcinoma |
c.3350C>T; p.P1117L; |
breast | carcinoma; ER-PR-positive_carcinoma |
c.2212G>A; p.E738K; |
breast | carcinoma; HER-positive_carcinoma |
c.275G>C; p.R92P; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.878G>C; p.W293S; 1:45068225-45068225 |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.878G>C; p.W293S; 1:45068225-45068225 |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.878G>C; p.W293S; 1:45068225-45068225 |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.72G>T; p.Q24H; 1:45081120-45081120 |
lung | carcinoma; adenocarcinoma |
c.3244G>T; p.D1082Y; 1:45061515-45061515 |
lung | carcinoma; adenocarcinoma |
c.2558C>T; p.P853L; |
skin; upper_back | malignant_melanoma |
c.359G>A; p.R120H; |
lung | carcinoma; small_cell_carcinoma |
c.1920_1921delGT; p.S641fs*45; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1682G>A; p.R561H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.579G>T; p.W193C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.578G>T; p.W193L; |
lung | carcinoma; adenocarcinoma |
c.249A>G; p.E83E; 1:45080122-45080122 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.2030C>T; p.A677V; 1:45066130-45066130 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.249A>G; p.E83E; 1:45080122-45080122 |
central_nervous_system; brain | glioma |
c.445_455+3delCTCTATGGGAAgtg; p.?; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.1210C>T; p.L404F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2838C>T; p.P946P; |
liver | carcinoma |
c.90G>C; p.L30L; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.711G>C; p.L237L; |
lung | carcinoma; adenocarcinoma |
c.1920G>T; p.G640G; |
lung | carcinoma; adenocarcinoma |
c.2878C>T; p.L960L; |
lung | carcinoma; adenocarcinoma |
c.425C>T; p.A142V; |
skin; trunk | malignant_melanoma |
c.1493C>T; p.T498M; |
NS | malignant_melanoma |
c.2429A>C; p.Y810S; |
meninges | meningioma |
c.720G>A; p.K240K; 1:45069200-45069200 |
skin | malignant_melanoma |
c.2637C>T; p.Y879Y; 1:45065219-45065219 |
lung | carcinoma; small_cell_carcinoma |
c.202delG; p.A68fs*4; 1:45080169-45080169 |
lung | carcinoma; non_small_cell_carcinoma |
c.3275T>C; p.L1092P; |
prostate | carcinoma |
c.2963C>T; p.T988M; |
pancreas | carcinoma; ductal_carcinoma |
c.512G>C; p.G171A; |
pancreas | carcinoma; ductal_carcinoma |
c.512G>C; p.G171A; |
NS | NS |
c.147C>T; p.C49C; |
lung | carcinoma; small_cell_carcinoma |
c.1496G>A; p.G499D; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.472A>T; p.K158*; 1:45070287-45070287 |
ovary | carcinoma; serous_carcinoma |
c.2898G>T; p.L966L; |
lung | carcinoma; squamous_cell_carcinoma |
c.2023C>T; p.Q675*; |
lung | carcinoma; squamous_cell_carcinoma |
c.2540G>C; p.R847T; |
lung | carcinoma; squamous_cell_carcinoma |
c.283C>A; p.Q95K; |
lung | carcinoma; adenocarcinoma |
c.3054C>T; p.P1018P; |
lung | carcinoma; squamous_cell_carcinoma |
c.2404T>A; p.S802T; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.237G>C; p.E79D; |
lung | carcinoma; squamous_cell_carcinoma |
c.1666C>T; p.R556W; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1747G>A; p.E583K; |
lung | carcinoma; squamous_cell_carcinoma |
c.1565C>T; p.P522L; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.2743C>T; p.R915C; |
lung | carcinoma; squamous_cell_carcinoma |
c.2584G>T; p.V862L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1666C>T; p.R556W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3574A>C; p.N1192H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3433delG; p.A1145fs*12; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.988G>A; p.E330K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.248A>G; p.E83G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.726G>T; p.Q242H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.203C>A; p.A68D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2432G>A; p.R811H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3190G>A; p.D1064N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2932G>A; p.V978I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.991C>T; p.H331Y; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1555G>A; p.V519I; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1710T>C; p.S570S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1528A>C; p.M510L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1489C>T; p.R497C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1398C>T; p.I466I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.997C>T; p.R333W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3220C>T; p.L1074F; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2991G>A; p.A997A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.472A>G; p.K158E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3423T>A; p.L1141L; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.355G>A; p.A119T; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.3366G>T; p.Q1122H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1953G>T; p.E651D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1928G>A; p.R643Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2033C>T; p.P678L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1284C>A; p.A428A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.821A>G; p.N274S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2996T>C; p.M999T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.719A>G; p.K240R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3505_3506insC; p.L1169fs*11; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.247G>A; p.E83K; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3269C>T; p.A1090V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1307C>T; p.A436V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.719A>G; p.K240R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.718A>G; p.K240E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.71A>G; p.Q24R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1424C>T; p.A475V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.248A>G; p.E83G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1758C>T; p.D586D; |
cervix | carcinoma; squamous_cell_carcinoma |
c.3505_3506insC; p.L1169fs*11; |
breast | carcinoma |
c.2031C>T; p.A677A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1823C>T; p.A608V; |
prostate | carcinoma; adenocarcinoma |
c.1319G>A; p.G440D; |
skin | malignant_melanoma |
c.1913C>T; p.P638L; |
skin | malignant_melanoma |
c.3418G>A; p.G1140R; |
skin; neck | malignant_melanoma |