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| General information | Expression | Regulation | Mutation | Interaction |
|
Basic Information |
|
|---|---|
Gene ID | 1540 |
Name | CYLD |
Synonymous | BRSS|CDMT|CYLD1|CYLDI|EAC|MFT|MFT1|SBS|TEM|USPL2;cylindromatosis (turban tumor syndrome);CYLD;cylindromatosis (turban tumor syndrome) |
Definition | deubiquitinating enzyme CYLD|probable ubiquitin carboxyl-terminal hydrolase CYLD|ubiquitin carboxyl-terminal hydrolase CYLD|ubiquitin specific peptidase like 2|ubiquitin thioesterase CYLD|ubiquitin thiolesterase CYLD|ubiquitin-specific-processing protease |
Position | 16q12.1 |
Gene Type | protein-coding |
Gene Mutation: | Substitution Insertion & Deletion Other Mutation |
Substitution | | Top | |
|
Mutation (Type; AA; Chr) |
Site |
Histology |
|---|---|---|
Substitution - coding silent; c.1554C>T; |
y; upper_aerodigestive_tract; larynx | squamous_cell_carcinoma; carcinoma |
Substitution - coding silent; c.2319G>A; 16:49384086-49384086 |
haematopoietic_and_lymphoid_ti | acute_lymphoblastic_B_cell_leukaemia; lymphoid_neoplasm |
Substitution - coding silent; c.867G>A; 16:49345790-49345790 |
central_nervous_system; brain | glioblastoma_multiforme; astrocytoma_Grade_IV; glioma |
Substitution - coding silent; c.1681T>C; 16:49372820-49372820 |
central_nervous_system; brain | glioblastoma_multiforme; astrocytoma_Grade_IV; glioma |
Substitution - coding silent; c.2475C>T; 16:49385629-49385629 |
large_intestine; rectum | adenocarcinoma; carcinoma |
Indel | | Top | |
|
Mutation (Type; AA; Chr) |
Site |
Histology |
|---|---|---|
Deletion - Frameshift; c.2322_2322delA; 16:49384089-49384089 |
skin; face | trichoblastoma; adnexal_tumour |
Deletion - Frameshift; c.2305_2305delA; 16:49384072-49384072 |
large_intestine; colon; transverse | adenocarcinoma; carcinoma |
Other Mutation | | Top | |
There is no record for CYLD |