| Gene ID | 90780 |
| Symbol | PYGO2 |
| Synonymous | 1190004M21Rik |
| Full name | pygopus family PHD finger 2 |
| Gene description | pygopus 2|pygopus homolog 2 |
| Cytoband | 1q21.3 |
| Gene type | protein-coding |
| Synonymous | MIM:606903; HGNC:HGNC:30257; Ensembl:ENSG00000163348; HPRD:06065; Vega:OTTHUMG00000037370 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1126G>A; p.V376I; 1:154958874-154958874 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.145A>C; p.N49H; 1:154960985-154960985 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.574C>T; p.P192S; 1:154959426-154959426 |
skin | malignant_melanoma | Substitution - Missense |
c.495A>G; p.Q165Q; 1:154959505-154959505 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.574C>T; p.P192S; 1:154959426-154959426 |
skin; trunk | malignant_melanoma; nodular | Substitution - Missense |
c.194delC; p.P65fs*96; 1:154959806-154959806 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.157C>T; p.P53S; 1:154959843-154959843 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.153+2T>G; p.?; 1:154960975-154960975 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.727C>A; p.P243T; 1:154959273-154959273 |
liver | carcinoma | Substitution - Missense |
c.488C>T; p.P163L; 1:154959512-154959512 |
breast | carcinoma | Substitution - Missense |
c.376C>T; p.P126S; 1:154959624-154959624 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.571G>T; p.G191C; 1:154959429-154959429 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.330G>C; p.M110I; 1:154959670-154959670 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.945T>G; p.G315G; 1:154959055-154959055 |
thyroid | other; neoplasm | Substitution - coding silent |
c.967C>T; p.P323S; 1:154959033-154959033 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1066C>T; p.R356C; 1:154958934-154958934 |
large_intestine; colon | adenoma | Substitution - Missense |
c.405delC; p.F136fs*25; 1:154959595-154959595 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.129G>T; p.K43N; 1:154961001-154961001 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.803C>T; p.S268F; 1:154959197-154959197 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.426C>T; p.G142G; 1:154959574-154959574 |
skin | malignant_melanoma | Substitution - coding silent |
c.389G>A; p.R130H; 1:154959611-154959611 |
liver | carcinoma | Substitution - Missense |
c.677C>T; p.P226L; 1:154959323-154959323 |
skin | malignant_melanoma | Substitution - Missense |
c.448delC; p.Q150fs*11; 1:154959552-154959552 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.448delC; p.Q150fs*11; 1:154959552-154959552 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.448delC; p.Q150fs*11; 1:154959552-154959552 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.448delC; p.Q150fs*11; 1:154959552-154959552 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.448delC; p.Q150fs*11; 1:154959552-154959552 |
pancreas | carcinoma; acinar_carcinoma | Deletion - Frameshift |
c.640C>T; p.R214*; 1:154959360-154959360 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1067G>C; p.R356P; 1:154958933-154958933 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1001G>A; p.R334Q; 1:154958999-154958999 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.333G>A; p.A111A; 1:154959667-154959667 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.839C>T; p.P280L; 1:154959161-154959161 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.616C>A; p.L206M; 1:154959384-154959384 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.486T>C; p.F162F; 1:154959514-154959514 |
oesophagus | carcinoma | Substitution - coding silent |
c.1101G>A; p.G367G; 1:154958899-154958899 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.409C>G; p.P137A; 1:154959591-154959591 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.840G>A; p.P280P; 1:154959160-154959160 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.991G>A; p.G331S; 1:154959009-154959009 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.446C>T; p.P149L; 1:154959554-154959554 |
skin | malignant_melanoma | Substitution - Missense |
c.646G>A; p.A216T; 1:154959354-154959354 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.446C>T; p.P149L; 1:154959554-154959554 |
skin | malignant_melanoma | Substitution - Missense |
c.468C>T; p.P156P; 1:154959532-154959532 |
skin | malignant_melanoma | Substitution - coding silent |
c.1105C>T; p.L369L; 1:154958895-154958895 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.641G>A; p.R214Q; 1:154959359-154959359 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.374G>C; p.G125A; 1:154959626-154959626 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.374G>C; p.G125A; 1:154959626-154959626 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.550C>A; p.P184T; 1:154959450-154959450 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.550C>A; p.P184T; 1:154959450-154959450 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.346C>T; p.P116S; 1:154959654-154959654 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.122C>T; p.P41L; 1:154961008-154961008 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.385C>T; p.L129F; 1:154959615-154959615 |
skin | malignant_melanoma | Substitution - Missense |
c.702C>T; p.L234L; 1:154959298-154959298 |
skin | malignant_melanoma | Substitution - coding silent |
c.230C>T; p.P77L; 1:154959770-154959770 |
skin; upper_leg | malignant_melanoma | Substitution - Missense |
c.866_867CC>TT; p.P289L; 1:154959133-154959134 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.282C>T; p.F94F; 1:154959718-154959718 |
skin | malignant_melanoma | Substitution - coding silent |
c.530C>A; p.P177H; 1:154959470-154959470 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.312C>T; p.F104F; 1:154959688-154959688 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.138G>T; p.R46S; 1:154960992-154960992 |
thyroid | other; neoplasm | Substitution - Missense |
c.138G>T; p.R46S; 1:154960992-154960992 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.138G>C; p.R46S; 1:154960992-154960992 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.970C>A; p.P324T; 1:154959030-154959030 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.448_449insC; p.Q150fs*27; 1:154959551-154959552 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.331G>A; p.A111T; 1:154959669-154959669 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.448_449insC; p.Q150fs*27; 1:154959551-154959552 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.448_449insC; p.Q150fs*27; 1:154959551-154959552 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.448_449insC; p.Q150fs*27; 1:154959551-154959552 |
large_intestine; caecum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.530C>T; p.P177L; 1:154959470-154959470 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.954C>T; p.S318S; 1:154959046-154959046 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |