| Gene ID | 912 |
| Symbol | CD1D |
| Synonymous | CD1A|R3 |
| Full name | CD1d molecule |
| Gene description | CD1D antigen, d polypeptide|HMC class I antigen-like glycoprotein CD1D|R3G1|T-cell surface glycoprotein CD1d|antigen-presenting glycoprotein CD1d|differentiation antigen CD1-alpha-3|thymocyte antigen CD1D |
| Cytoband | 1q23.1 |
| Gene type | protein-coding |
| Synonymous | MIM:188410; HGNC:HGNC:1637; Ensembl:ENSG00000158473; HPRD:01780; Vega:OTTHUMG00000022436 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.63C>G; p.V21V; 1:158181456-158181456 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.999C>T; p.G333G; 1:158184141-158184141 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.74delT; p.F26fs*43; 1:158181467-158181467 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.805G>A; p.V269M; 1:158183075-158183075 |
breast | carcinoma | Substitution - Missense |
c.27C>T; p.L9L; 1:158181128-158181128 |
breast | carcinoma | Substitution - coding silent |
c.364G>T; p.V122L; 1:158182067-158182067 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.571C>A; p.L191I; 1:158182274-158182274 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.423C>T; p.I141I; 1:158182126-158182126 |
skin | malignant_melanoma | Substitution - coding silent |
c.996G>C; p.Q332H; 1:158184138-158184138 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.933G>A; p.A311A; 1:158183982-158183982 |
bone; extraskeletal | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.753G>A; p.G251G; 1:158183023-158183023 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.295G>A; p.V99M; 1:158181688-158181688 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.332C>T; p.P111L; 1:158182035-158182035 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.986+1G>A; p.?; 1:158184036-158184036 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Unknown |
c.332C>T; p.P111L; 1:158182035-158182035 |
pancreas | pancreatic_intraepithelial_neoplasia_(PanIN) | Substitution - Missense |
c.332C>T; p.P111L; 1:158182035-158182035 |
pancreas | pancreatic_intraepithelial_neoplasia_(PanIN) | Substitution - Missense |
c.332C>T; p.P111L; 1:158182035-158182035 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.336G>A; p.L112L; 1:158182039-158182039 |
skin | malignant_melanoma | Substitution - coding silent |
c.295G>A; p.V99M; 1:158181688-158181688 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.986+1G>A; p.?; 1:158184036-158184036 |
prostate | carcinoma | Unknown |
c.951C>A; p.L317L; 1:158184000-158184000 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.566G>A; p.S189N; 1:158182269-158182269 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.154G>A; p.E52K; 1:158181547-158181547 |
skin | malignant_melanoma | Substitution - Missense |
c.63C>T; p.V21V; 1:158181456-158181456 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.689A>G; p.Y230C; 1:158182959-158182959 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.88T>G; p.C30G; 1:158181481-158181481 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.411A>T; p.Q137H; 1:158182114-158182114 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.481T>G; p.L161V; 1:158182184-158182184 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.787C>T; p.L263F; 1:158183057-158183057 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.481T>G; p.L161V; 1:158182184-158182184 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.155A>G; p.E52G; 1:158181548-158181548 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.704G>A; p.W235*; 1:158182974-158182974 |
skin | malignant_melanoma | Substitution - Nonsense |
c.265C>A; p.R89R; 1:158181658-158181658 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.326C>G; p.S109C; 1:158181719-158181719 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.185C>T; p.S62L; 1:158181578-158181578 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.495G>T; p.V165V; 1:158182198-158182198 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.621C>T; p.A207A; 1:158182891-158182891 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.764C>A; p.P255H; 1:158183034-158183034 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.409C>T; p.Q137*; 1:158182112-158182112 |
skin | malignant_melanoma | Substitution - Nonsense |
c.619G>A; p.A207T; 1:158182889-158182889 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.793G>A; p.A265T; 1:158183063-158183063 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.775G>A; p.E259K; 1:158183045-158183045 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.470T>C; p.L157P; 1:158182173-158182173 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.265C>T; p.R89W; 1:158181658-158181658 |
breast | carcinoma | Substitution - Missense |
c.327C>T; p.S109S; 1:158181720-158181720 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.989C>T; p.S330F; 1:158184131-158184131 |
skin | malignant_melanoma | Substitution - Missense |
c.834C>T; p.S278S; 1:158183104-158183104 |
skin | malignant_melanoma | Substitution - coding silent |
c.681A>T; p.S227S; 1:158182951-158182951 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.740G>A; p.G247D; 1:158183010-158183010 |
skin | malignant_melanoma | Substitution - Missense |
c.144G>A; p.A48A; 1:158181537-158181537 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.252G>A; p.L84L; 1:158181645-158181645 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.252G>A; p.L84L; 1:158181645-158181645 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.268G>A; p.V90I; 1:158181661-158181661 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.379G>A; p.A127T; 1:158182082-158182082 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.252G>A; p.L84L; 1:158181645-158181645 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.142G>T; p.A48S; 1:158181535-158181535 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.347T>C; p.V116A; 1:158182050-158182050 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.142G>T; p.A48S; 1:158181535-158181535 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.306C>T; p.F102F; 1:158181699-158181699 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.164C>T; p.T55M; 1:158181557-158181557 |
prostate | carcinoma | Substitution - Missense |
c.107T>A; p.F36Y; 1:158181500-158181500 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.986C>T; p.T329I; 1:158184035-158184035 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.165G>A; p.T55T; 1:158181558-158181558 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.412G>T; p.G138*; 1:158182115-158182115 |
lung; left_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.635G>T; p.G212V; 1:158182905-158182905 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.393C>T; p.F131F; 1:158182096-158182096 |
skin | malignant_melanoma | Substitution - coding silent |
c.777G>T; p.E259D; 1:158183047-158183047 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.653G>A; p.G218D; 1:158182923-158182923 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.655C>T; p.R219C; 1:158182925-158182925 |
salivary_gland | carcinoma; adenoid_cystic_carcinoma | Substitution - Missense |
c.815G>T; p.G272V; 1:158183085-158183085 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.618G>T; p.K206N; 1:158182888-158182888 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.454A>G; p.T152A; 1:158182157-158182157 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.111C>T; p.A37A; 1:158181504-158181504 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.186G>A; p.S62S; 1:158181579-158181579 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.512G>A; p.W171*; 1:158182215-158182215 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.748C>G; p.P250A; 1:158183018-158183018 |
liver | carcinoma | Substitution - Missense |
c.990C>T; p.S330S; 1:158184132-158184132 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.87C>T; p.R29R; 1:158181480-158181480 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.772G>A; p.D258N; 1:158183042-158183042 |
skin | malignant_melanoma | Substitution - Missense |
c.197G>A; p.R66H; 1:158181590-158181590 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.197G>A; p.R66H; 1:158181590-158181590 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.574C>T; p.L192F; 1:158182277-158182277 |
skin | malignant_melanoma | Substitution - Missense |
c.448G>A; p.E150K; 1:158182151-158182151 |
liver | carcinoma | Substitution - Missense |
c.448G>A; p.E150K; 1:158182151-158182151 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.448G>A; p.E150K; 1:158182151-158182151 |
liver | carcinoma | Substitution - Missense |
c.254A>G; p.Q85R; 1:158181647-158181647 |
liver | carcinoma | Substitution - Missense |
c.549C>T; p.T183T; 1:158182252-158182252 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.294C>T; p.D98D; 1:158181687-158181687 |
pancreas | carcinoma | Substitution - coding silent |
c.80C>T; p.P27L; 1:158181473-158181473 |
skin | malignant_melanoma | Substitution - Missense |
c.418G>A; p.D140N; 1:158182121-158182121 |
skin | malignant_melanoma | Substitution - Missense |
c.127C>T; p.R43C; 1:158181520-158181520 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.450G>T; p.E150D; 1:158182153-158182153 |
liver | carcinoma | Substitution - Missense |
c.450G>T; p.E150D; 1:158182153-158182153 |
liver | carcinoma | Substitution - Missense |
c.450G>T; p.E150D; 1:158182153-158182153 |
liver | carcinoma | Substitution - Missense |
c.515C>T; p.T172M; 1:158182218-158182218 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.608-1G>A; p.?; 1:158182877-158182877 |
autonomic_ganglia | neuroblastoma | Unknown |
c.831G>T; p.L277L; 1:158183101-158183101 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.787C>A; p.L263I; 1:158183057-158183057 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.791G>T; p.R264L; 1:158183061-158183061 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.665T>G; p.L222R; 1:158182935-158182935 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.548C>T; p.T183I; 1:158182251-158182251 |
skin | malignant_melanoma | Substitution - Missense |
c.126G>A; p.T42T; 1:158181519-158181519 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1000G>A; p.V334I; 1:158184142-158184142 |
liver | carcinoma | Substitution - Missense |
c.1000G>A; p.V334I; 1:158184142-158184142 |
liver | carcinoma | Substitution - Missense |
c.225G>A; p.T75T; 1:158181618-158181618 |
liver | carcinoma | Substitution - coding silent |
c.225G>A; p.T75T; 1:158181618-158181618 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.248C>T; p.T83M; 1:158181641-158181641 |
pancreas | carcinoma | Substitution - Missense |
c.515C>A; p.T172K; 1:158182218-158182218 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.125C>A; p.T42K; 1:158181518-158181518 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.77T>C; p.F26S; 1:158181470-158181470 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable | Substitution - Missense |
c.579G>T; p.E193D; 1:158182282-158182282 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.954T>C; p.I318I; 1:158184003-158184003 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.266G>A; p.R89Q; 1:158181659-158181659 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.774C>T; p.D258D; 1:158183044-158183044 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.948C>T; p.L316L; 1:158183997-158183997 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.774C>T; p.D258D; 1:158183044-158183044 |
prostate | carcinoma | Substitution - coding silent |
c.693A>T; p.P231P; 1:158182963-158182963 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.784T>C; p.Y262H; 1:158183054-158183054 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.675T>C; p.H225H; 1:158182945-158182945 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.393C>G; p.F131L; 1:158182096-158182096 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.585G>A; p.G195G; 1:158182288-158182288 |
skin | malignant_melanoma | Substitution - coding silent |
c.481T>C; p.L161L; 1:158182184-158182184 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.328+2T>C; p.?; 1:158181723-158181723 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.275G>A; p.R92Q; 1:158181668-158181668 |
breast | carcinoma | Substitution - Missense |
c.790C>T; p.R264*; 1:158183060-158183060 |
breast | carcinoma | Substitution - Nonsense |
c.4G>A; p.G2R; 1:158181105-158181105 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.843G>A; p.V281V; 1:158183113-158183113 |
skin | malignant_melanoma | Substitution - coding silent |
c.134A>G; p.D45G; 1:158181527-158181527 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.378C>T; p.N126N; 1:158182081-158182081 |
skin | malignant_melanoma | Substitution - coding silent |
c.732G>A; p.E244E; 1:158183002-158183002 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.636C>T; p.G212G; 1:158182906-158182906 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.700G>T; p.V234L; 1:158182970-158182970 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |