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| General information | Expression | Regulation | Mutation | Interaction |
|
Basic Information |
|
|---|---|
Gene ID | 5727 |
Name | PTCH1 |
Synonymous | BCNS|HPE7|NBCCS|PTC|PTC1|PTCH|PTCH11;patched 1;PTCH1;patched 1 |
Definition | PTCH protein +12b|PTCH protein +4'|PTCH protein -10|PTCH protein -3,4,5|patched homolog 1|protein patched homolog 1 |
Position | 9q22.3 |
Gene Type | protein-coding |
Gene Mutation: | Substitution Insertion & Deletion Other Mutation |
Substitution | | Top | |
|
Mutation (Type; AA; Chr) |
Site |
Histology |
|---|---|---|
Substitution - coding silent; c.1725C>T; 9:97278140-97278140 |
skin; face | squamous_cell_carcinoma; carcinoma |
Substitution - coding silent; c.1977G>A; 9:97271127-97271127 |
skin; hand | basal_cell_carcinoma; carcinoma |
Substitution - coding silent; c.2004C>T; 9:97271100-97271100 |
skin; chest | basal_cell_carcinoma; carcinoma |
Substitution - coding silent; c.3279A>G; 9:97258406-97258406 |
central_nervous_system; brain | glioblastoma_multiforme; astrocytoma_Grade_IV; glioma |
Substitution - coding silent; c.1137C>T; |
y; breast | carcinoma |
Substitution - coding silent; c.3378_3379CC>TT; 9:97255651-97255652 |
skin; face | basal_cell_carcinoma; carcinoma |
Substitution - coding silent; c.1137C>T; 9:97281181-97281181 |
oesophagus | squamous_cell_carcinoma; carcinoma |
Substitution - coding silent; c.1992C>T; 9:97271112-97271112 |
skin; neck | basal_cell_carcinoma; carcinoma |
Substitution - coding silent; c.4323C>T; |
y; skin; face | squamous_cell_carcinoma; carcinoma |
Substitution - coding silent; c.3840G>T; |
bone; mandible | odontogenic_keratocyst |
Substitution - coding silent; c.3183G>A; |
y; breast | carcinoma |
Substitution - coding silent; c.2421C>T; 9:97269358-97269358 |
skin; shoulder | basal_cell_carcinoma; carcinoma |
Substitution - coding silent; c.3138C>T; |
n; lung | squamous_cell_carcinoma; carcinoma |
Substitution - coding silent; c.3135C>T; |
n; lung | squamous_cell_carcinoma; carcinoma |
Substitution - coding silent; c.2334G>A; 9:97269445-97269445 |
skin; face | squamous_cell_carcinoma; carcinoma |
Substitution - coding silent; c.3138C>T; |
n; lung | squamous_cell_carcinoma; carcinoma |
Substitution - coding silent; c.1137C>T; 9:97281181-97281181 |
y; breast | carcinoma |
Substitution - coding silent; c.3240C>T; 9:97258445-97258445 |
skin; face | squamous_cell_carcinoma; carcinoma |
Substitution - coding silent; c.3183G>A; |
y; breast | carcinoma |
Indel | | Top | |
|
Mutation (Type; AA; Chr) |
Site |
Histology |
|---|---|---|
Deletion - Frameshift; c.1796_1799delATTT; 9:97271964-97271967 |
skin; face | basal_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.1673_1695del23; |
skin; face | basal_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.1108_1111delAAGC; |
skin; face | trichoepithelioma; adnexal_tumour |
Deletion - In frame; c.1456_1461delGGCCTG; |
central_nervous_system; brain | desmoplastic; primitive_neuroectodermal_tumour-medulloblastoma |
Deletion - Frameshift; c.1350delC; 9:97279803-97279803 |
central_nervous_system; brain | large_cell; primitive_neuroectodermal_tumour-medulloblastoma |
Deletion - Frameshift; c.726delG; 9:97284072-97284072 |
central_nervous_system; brain | desmoplastic; primitive_neuroectodermal_tumour-medulloblastoma |
Deletion - Frameshift; c.1859_1860delGA; |
n; central_nervous_system; medulla | classic; primitive_neuroectodermal_tumour-medulloblastoma |
Deletion - Frameshift; c.865_865delC; 9:97282573-97282573 |
skin; scalp | basal_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.804_807delAAAG; 9:97282631-97282634 |
skin; axilla | basal_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.2146delT; |
skin; shoulder | basal_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.1863_1864delAG; |
skin; face | basal_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.813_819delAAACTAT; |
skin; lower_leg | basal_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.2716_2729del14; |
skin; eye | basal_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.2979delA; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
Deletion - In frame; c.1703_1711del9; 9:97278154-97278162 |
skin; face | basal_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.1481_1485delCCTTT; 9:97279668-97279672 |
skin; face | basal_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.1862_1863delGA; |
n; central_nervous_system; medulla | classic; primitive_neuroectodermal_tumour-medulloblastoma |
Deletion - Frameshift; c.1667_1667delT; 9:97278198-97278198 |
skin; face | basal_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.292_310del19; 9:97308594-97308612 |
skin; face | basal_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.1434_1437delACTG; |
skin; face | basal_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.378delG; 9:97308526-97308526 |
skin; scalp | basal_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.2873delA; |
skin; face | basal_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.1588_1589delAG; |
central_nervous_system; cerebellum | primitive_neuroectodermal_tumour-medulloblastoma |
Deletion - Frameshift; c.2888_3167del280; 9:97260117-97260396 |
central_nervous_system; brain | desmoplastic; primitive_neuroectodermal_tumour-medulloblastoma |
Deletion - Frameshift; c.1324delG; 9:97280181-97280181 |
skin; face | basal_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.1341_1344delACTC; 9:97280161-97280164 |
central_nervous_system; cerebellum | classic; primitive_neuroectodermal_tumour-medulloblastoma |
Deletion - Frameshift; c.1285_1285delG; 9:97280220-97280220 |
skin; scalp | basal_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.262_274del13; 9:97308630-97308642 |
skin | basal_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.2287delG; |
skin; back | basal_cell_carcinoma; carcinoma |
Deletion - In frame; c.3856_3867del12; |
skin; face | basal_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.1361_1364delGTCT; 9:97279789-97279792 |
bone; mandible | odontogenic_keratocyst |
Deletion - In frame; c.3169_3306del138; 9:97258379-97258516 |
central_nervous_system; brain | desmoplastic; primitive_neuroectodermal_tumour-medulloblastoma |
Deletion - Frameshift; c.1755delT; |
n; central_nervous_system; medulla | classic; primitive_neuroectodermal_tumour-medulloblastoma |
Deletion - Frameshift; c.239_240delGA; 9:97308664-97308665 |
central_nervous_system; cerebellum | classic; primitive_neuroectodermal_tumour-medulloblastoma |
Deletion - Frameshift; c.1361_1389del29; 9:97279764-97279792 |
skin; shoulder | basal_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.1047delC; |
skin; face | basal_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.758_776del19; |
skin; face | basal_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.1371delG; |
bone; mandible | odontogenic_keratocyst |
Deletion - Frameshift; c.2873delA; |
skin; face | basal_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.3974delT; 9:97249385-97249385 |
n; lung | adenocarcinoma; carcinoma |
Deletion - Frameshift; c.1755delT; |
n; central_nervous_system; medulla | classic; primitive_neuroectodermal_tumour-medulloblastoma |
Deletion - Frameshift; c.560delT; |
n; central_nervous_system; medulla | desmoplastic; primitive_neuroectodermal_tumour-medulloblastoma |
Deletion - Frameshift; c.3205_3215del11; 9:97258470-97258480 |
central_nervous_system; cerebellum | desmoplastic; primitive_neuroectodermal_tumour-medulloblastoma |
Deletion - Frameshift; c.518_522delAAGCG; 9:97287850-97287854 |
bone; mandible | odontogenic_keratocyst |
Deletion - Frameshift; c.2866_2867delAT; |
skin; arm | basal_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.1371delG; |
bone; mandible | odontogenic_keratocyst |
Deletion - Frameshift; c.1434_1437delACTG; |
skin; face | basal_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.2477delT; 9:97269302-97269302 |
skin; lip | basal_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.2439delG; 9:97269340-97269340 |
skin; upper_back | basal_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.2910delG; 9:97260374-97260374 |
skin; lower_back | basal_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.1862_1863delGA; |
n; central_nervous_system; medulla | classic; primitive_neuroectodermal_tumour-medulloblastoma |
Deletion - Frameshift; c.563delT; |
n; central_nervous_system; medulla | desmoplastic; primitive_neuroectodermal_tumour-medulloblastoma |
Deletion - Frameshift; c.864_871delTCATGGTT; |
skin; face | basal_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.3470_3471delCG; |
central_nervous_system; cerebellum | primitive_neuroectodermal_tumour-medulloblastoma |
Deletion - Frameshift; c.3641delC; |
bone; mandible | odontogenic_keratocyst |
Deletion - Frameshift; c.1371delG; |
bone; mandible | odontogenic_keratocyst |
Deletion - Frameshift; c.2910delG; 9:97260374-97260374 |
skin; face | basal_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.809_818del10; 9:97282620-97282629 |
skin; face | basal_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.563delT; |
n; central_nervous_system; medulla | desmoplastic; primitive_neuroectodermal_tumour-medulloblastoma |
Deletion - Frameshift; c.1887delC; 9:97271217-97271217 |
skin; sun_exposed_site | basal_cell_carcinoma; carcinoma |
Deletion - In frame; c.2385_2399del15; |
skin; scalp | basal_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.3249delG; |
skin; face | basal_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.2134_2144del11; |
skin | basal_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.983delA; 9:97282156-97282156 |
bone; mandible | odontogenic_keratocyst |
Deletion - Frameshift; c.2635delG; 9:97264027-97264027 |
bone; mandible | odontogenic_keratocyst |
Deletion - Frameshift; c.1558_1574del17; 9:97278890-97278906 |
bone; mandible | odontogenic_keratocyst |
Deletion - Frameshift; c.2986_2992delACCATCT; 9:97260292-97260298 |
central_nervous_system; cerebellum | primitive_neuroectodermal_tumour-medulloblastoma |
Deletion - Frameshift; c.2969_2982del14; 9:97260302-97260315 |
central_nervous_system; cerebellum | primitive_neuroectodermal_tumour-medulloblastoma |
Deletion - Frameshift; c.1752delT; |
n; central_nervous_system; medulla | classic; primitive_neuroectodermal_tumour-medulloblastoma |
Deletion - Frameshift; c.1350delC; 9:97279803-97279803 |
central_nervous_system; cerebellum | large_cell; primitive_neuroectodermal_tumour-medulloblastoma |
Other Mutation | | Top | |
|
Mutation (Type; AA; Chr) |
Site |
Histology |
|---|---|---|
Complex - frameshift; c.2791_2793CCC>T; 9:97261797-97261799 |
skin; ear | basal_cell_carcinoma; carcinoma |
Complex - compound substitutio; c.708_709GG>AA; 9:97284089-97284090 |
skin | basal_cell_carcinoma; carcinoma |
Complex - insertion inframe; c.2710_2711insCTT; |
n; central_nervous_system; medulla | primitive_neuroectodermal_tumour-medulloblastoma |
Complex - compound substitutio; c.3054_3055GG>AA; 9:97260229-97260230 |
skin | basal_cell_carcinoma; carcinoma |
Complex - insertion inframe; c.2710_2711insCTT; |
n; central_nervous_system; medulla | primitive_neuroectodermal_tumour-medulloblastoma |
Complex - deletion inframe; c.3509_3538>GGA; 9:97251955-97251984 |
skin; face | trichoepithelioma; adnexal_tumour |
Complex - frameshift; c.857_861AGGTT>G; 9:97282577-97282581 |
skin; face | basal_cell_carcinoma; carcinoma |
Complex - frameshift; c.1869_1870TC>A; 9:97271234-97271235 |
central_nervous_system; brain | desmoplastic; primitive_neuroectodermal_tumour-medulloblastoma |
Complex - insertion inframe; c.2707_2708insCTT; |
n; central_nervous_system; medulla | primitive_neuroectodermal_tumour-medulloblastoma |
Complex - frameshift; c.3169_3171GTG>A; 9:97258514-97258516 |
central_nervous_system; cerebellum | primitive_neuroectodermal_tumour-medulloblastoma |