| Gene ID | 1116 |
| Symbol | CHI3L1 |
| Synonymous | ASRT7|CGP-39|GP-39|GP39|HC-gp39|HCGP-3P|YKL-40|YKL40|YYL-40|hCGP-39 |
| Full name | chitinase 3-like 1 (cartilage glycoprotein-39) |
| Gene description | 39 kDa synovial protein|cartilage glycoprotein 39|chitinase-3-like protein 1 |
| Cytoband | 1q32.1 |
| Gene type | protein-coding |
| Synonymous | MIM:601525; HGNC:HGNC:1932; Ensembl:ENSG00000133048; HPRD:03314; Vega:OTTHUMG00000042122 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.744G>T; p.G248G; 1:203180620-203180620 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.985G>A; p.D329N; 1:203179787-203179787 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.851C>T; p.P284L; 1:203180513-203180513 |
skin | malignant_melanoma | Substitution - Missense |
c.112G>A; p.D38N; 1:203185329-203185329 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1039G>A; p.A347T; 1:203179558-203179558 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.341A>G; p.Q114R; 1:203183765-203183765 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.853G>A; p.G285S; 1:203180511-203180511 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.980G>C; p.G327A; 1:203179792-203179792 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.142C>A; p.R48S; 1:203185299-203185299 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1098G>T; p.Q366H; 1:203179499-203179499 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.487A>G; p.K163E; 1:203182831-203182831 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.913G>A; p.G305R; 1:203179859-203179859 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.619G>A; p.D207N; 1:203181254-203181254 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.579G>T; p.K193N; 1:203182739-203182739 |
ovary | carcinoma; adenocarcinoma | Substitution - Missense |
c.579G>T; p.K193N; 1:203182739-203182739 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.379C>G; p.L127V; 1:203183727-203183727 |
breast | carcinoma | Substitution - Missense |
c.379C>G; p.L127V; 1:203183727-203183727 |
breast | carcinoma | Substitution - Missense |
c.478G>A; p.E160K; 1:203182840-203182840 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.383G>A; p.R128H; 1:203183723-203183723 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.89G>T; p.S30I; 1:203185352-203185352 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.867G>A; p.K289K; 1:203180497-203180497 |
skin | malignant_melanoma | Substitution - coding silent |
c.478G>A; p.E160K; 1:203182840-203182840 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.199G>C; p.D67H; 1:203185242-203185242 |
salivary_gland | carcinoma; adenoid_cystic_carcinoma | Substitution - Missense |
c.679G>A; p.E227K; 1:203181194-203181194 |
skin | malignant_melanoma | Substitution - Missense |
c.729C>T; p.Y243Y; 1:203180635-203180635 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.225G>A; p.T75T; 1:203185216-203185216 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.54C>T; p.C18C; 1:203186317-203186317 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.346C>T; p.R116C; 1:203183760-203183760 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1006A>C; p.S336R; 1:203179766-203179766 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.855_856CC>AT; p.R286W; 1:203180508-203180509 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.857G>A; p.R286Q; 1:203180507-203180507 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.911G>A; p.R304H; 1:203179861-203179861 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.338_339CC>TT; p.T113I; 1:203183767-203183768 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1102C>G; p.L368V; 1:203179495-203179495 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1040C>T; p.A347V; 1:203179557-203179557 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1079A>T; p.Q360L; 1:203179518-203179518 |
liver | carcinoma | Substitution - Missense |
c.1079A>T; p.Q360L; 1:203179518-203179518 |
liver | carcinoma | Substitution - Missense |
c.495C>G; p.A165A; 1:203182823-203182823 |
prostate | adenoma | Substitution - coding silent |
c.225_226insG; p.L76fs*58; 1:203185215-203185216 |
breast | carcinoma | Insertion - Frameshift |
c.674G>A; p.G225D; 1:203181199-203181199 |
skin | malignant_melanoma | Substitution - Missense |
c.968A>T; p.N323I; 1:203179804-203179804 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.595G>A; p.D199N; 1:203181278-203181278 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.468A>G; p.E156E; 1:203182850-203182850 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.223A>T; p.T75S; 1:203185218-203185218 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.431G>A; p.R144Q; 1:203183675-203183675 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1093G>C; p.G365R; 1:203179504-203179504 |
thyroid | carcinoma | Substitution - Missense |
c.906C>T; p.F302F; 1:203179866-203179866 |
skin | malignant_melanoma | Substitution - coding silent |
c.1092T>C; p.C364C; 1:203179505-203179505 |
thyroid | other; neoplasm | Substitution - coding silent |
c.191A>G; p.D64G; 1:203185250-203185250 |
pancreas | carcinoma | Substitution - Missense |
c.600C>T; p.F200F; 1:203181273-203181273 |
skin | malignant_melanoma | Substitution - coding silent |
c.332C>T; p.S111F; 1:203183774-203183774 |
skin | malignant_melanoma | Substitution - Missense |
c.837A>C; p.S279S; 1:203180527-203180527 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.2T>C; p.M1T; 1:203186622-203186622 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.525C>T; p.S175S; 1:203182793-203182793 |
breast | carcinoma | Substitution - coding silent |
c.458T>C; p.L153P; 1:203183648-203183648 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.994G>A; p.E332K; 1:203179778-203179778 |
skin | malignant_melanoma | Substitution - Missense |
c.258-2A>C; p.?; 1:203184634-203184634 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.817G>A; p.G273S; 1:203180547-203180547 |
liver | carcinoma | Substitution - Missense |
c.783C>T; p.F261F; 1:203180581-203180581 |
pancreas | carcinoma | Substitution - coding silent |
c.927T>C; p.H309H; 1:203179845-203179845 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.783C>T; p.F261F; 1:203180581-203180581 |
skin; arm | malignant_melanoma | Substitution - coding silent |
c.139G>A; p.D47N; 1:203185302-203185302 |
breast | carcinoma | Substitution - Missense |
c.454A>C; p.T152P; 1:203183652-203183652 |
breast | carcinoma | Substitution - Missense |
c.371C>T; p.P124L; 1:203183735-203183735 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.111C>T; p.G37G; 1:203185330-203185330 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1011G>A; p.K337K; 1:203179761-203179761 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - coding silent |
c.1131G>A; p.K377K; 1:203179466-203179466 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.1131G>A; p.K377K; 1:203179466-203179466 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1001T>C; p.V334A; 1:203179771-203179771 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.912C>T; p.R304R; 1:203179860-203179860 |
soft_tissue; blood_vessel | angiosarcoma | Substitution - coding silent |
c.910C>T; p.R304C; 1:203179862-203179862 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.636G>C; p.W212C; 1:203181237-203181237 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.828C>T; p.A276A; 1:203180536-203180536 |
breast | carcinoma | Substitution - coding silent |
c.113A>T; p.D38V; 1:203185328-203185328 |
breast | carcinoma | Substitution - Missense |
c.999C>G; p.S333R; 1:203179773-203179773 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.988G>A; p.D330N; 1:203179784-203179784 |
skin | malignant_melanoma | Substitution - Missense |
c.988G>A; p.D330N; 1:203179784-203179784 |
skin | malignant_melanoma | Substitution - Missense |
c.988G>A; p.D330N; 1:203179784-203179784 |
skin | malignant_melanoma | Substitution - Missense |
c.12G>T; p.K4N; 1:203186612-203186612 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.640G>A; p.G214R; 1:203181233-203181233 |
skin | malignant_melanoma | Substitution - Missense |
c.426T>C; p.P142P; 1:203183680-203183680 |
liver | carcinoma | Substitution - coding silent |
c.673G>A; p.G225S; 1:203181200-203181200 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1099G>A; p.D367N; 1:203179498-203179498 |
skin | malignant_melanoma | Substitution - Missense |
c.217G>A; p.D73N; 1:203185224-203185224 |
breast | carcinoma | Substitution - Missense |
c.372G>A; p.P124P; 1:203183734-203183734 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.372G>A; p.P124P; 1:203183734-203183734 |
breast | carcinoma | Substitution - coding silent |
c.231C>T; p.Y77Y; 1:203185210-203185210 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1091G>A; p.C364Y; 1:203179506-203179506 |
liver | carcinoma | Substitution - Missense |
c.1091G>A; p.C364Y; 1:203179506-203179506 |
liver | carcinoma | Substitution - Missense |
c.231C>T; p.Y77Y; 1:203185210-203185210 |
breast | carcinoma | Substitution - coding silent |
c.331T>G; p.S111A; 1:203183775-203183775 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.725G>A; p.G242E; 1:203180639-203180639 |
skin | malignant_melanoma | Substitution - Missense |
c.282G>C; p.L94F; 1:203184608-203184608 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.234C>G; p.G78G; 1:203185207-203185207 |
breast | carcinoma | Substitution - coding silent |
c.502G>T; p.G168W; 1:203182816-203182816 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.213G>T; p.W71C; 1:203185228-203185228 |
pancreas | NS | Substitution - Missense |
c.213G>T; p.W71C; 1:203185228-203185228 |
pancreas | carcinoma | Substitution - Missense |