| Gene ID | 4267 |
| Symbol | CD99 |
| Synonymous | HBA71|MIC2|MIC2X|MIC2Y|MSK5X |
| Full name | CD99 molecule |
| Gene description | CD99 antigen|E2 antigen|MIC2 (monoclonal antibody 12E7)|T-cell surface glycoprotein E2|antigen identified by monoclonal 12E7, Y homolog|antigen identified by monoclonal antibodies 12E7, F21 and O13|surface antigen MIC2 |
| Cytoband | Xp22.32 and Yp11.3 |
| Gene type | protein-coding |
| Synonymous | MIM:313470; MIM:450000; HGNC:HGNC:7082; Ensembl:ENSG00000002586; HPRD:02434; HPRD:02465; Vega:OTTHUMG00000021073 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.201A>C; p.P67P; 23:2720363-2720363 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.508C>T; p.R170W; 23:2738232-2738232 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.121A>T; p.T41S; 23:2717625-2717625 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.309A>T; p.E103D; 23:2722673-2722673 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.212A>C; p.N71T; 23:2720374-2720374 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.63C>T; p.A21A; 23:2691423-2691423 |
skin | malignant_melanoma | Substitution - coding silent |
c.526_527CC>TT; p.P176L; 23:2738250-2738251 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.239A>C; p.N80T; 23:2720401-2720401 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.343A>G; p.R115G; 23:2723346-2723346 |
breast | carcinoma | Substitution - Missense |
c.216A>C; p.P72P; 23:2720378-2720378 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.216A>C; p.P72P; 23:2720378-2720378 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.87C>T; p.S29S; 23:2714441-2714441 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.87C>T; p.S29S; 23:2714441-2714441 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.248A>C; p.H83P; 23:2720410-2720410 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.248A>C; p.H83P; 23:2720410-2720410 |
breast | carcinoma | Substitution - Missense |
c.262+1G>A; p.?; 23:2720425-2720425 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Unknown |
c.263-1G>T; p.?; 23:2722626-2722626 |
skin | malignant_melanoma | Unknown |
c.315A>T; p.K105N; 23:2723318-2723318 |
breast | carcinoma | Substitution - Missense |
c.274G>C; p.D92H; 23:2722638-2722638 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.409G>A; p.A137T; 23:2726307-2726307 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.221A>C; p.K74T; 23:2720383-2720383 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.352G>A; p.G118R; 23:2723355-2723355 |
breast | carcinoma | Substitution - Missense |
c.274G>T; p.D92Y; 23:2722638-2722638 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.220_221delAA; p.K74fs*11; 23:2720382-2720383 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; NK-T_cell_lymphoma | Deletion - Frameshift |
c.262+5G>A; p.?; 23:2720429-2720429 |
skin | malignant_melanoma | Unknown |
c.369C>T; p.A123A; 23:2726267-2726267 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.403G>A; p.V135M; 23:2726301-2726301 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.310+9A>G; p.?; 23:2722683-2722683 |
stomach | adenocarcinoma | Unknown |
c.361+1G>C; p.?; 23:2723365-2723365 |
lung | carcinoma; adenocarcinoma | Unknown |
c.78C>T; p.F26F; 23:2714432-2714432 |
skin | malignant_melanoma | Substitution - coding silent |
c.160G>C; p.D54H; 23:2719672-2719672 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |