| Gene ID | 9555 |
| Symbol | H2AFY |
| Synonymous | H2A.y|H2A/y|H2AF12M|H2AFJ|MACROH2A1.1|mH2A1|macroH2A1.2 |
| Full name | H2A histone family, member Y |
| Gene description | core histone macro-H2A.1|histone H2A.y|histone macroH2A1|histone macroH2A1.1|histone macroH2A1.2|medulloblastoma antigen MU-MB-50.205 |
| Cytoband | 5q31.1 |
| Gene type | protein-coding |
| Synonymous | MIM:610054; HGNC:HGNC:4740; Ensembl:ENSG00000113648; HPRD:13624; Vega:OTTHUMG00000129141 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.78delG; p.R27fs*30; 5:135389016-135389016 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.303C>T; p.A101A; 5:135369580-135369580 |
pancreas | carcinoma | Substitution - coding silent |
c.150C>T; p.A50A; 5:135388944-135388944 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.901G>T; p.A301S; 5:135343312-135343312 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.28T>C; p.S10P; 5:135389066-135389066 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524C>T; p.T175I; 5:135360561-135360561 |
skin | malignant_melanoma | Substitution - Missense |
c.253G>A; p.V85M; 5:135370062-135370062 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.381C>T; p.I127I; 5:135369502-135369502 |
breast | carcinoma | Substitution - coding silent |
c.641C>T; p.A214V; 5:135352993-135352993 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.957C>T; p.N319N; 5:135335138-135335138 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.421C>T; p.Q141*; 5:135369462-135369462 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.778G>A; p.A260T; 5:135345968-135345968 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.543C>T; p.D181D; 5:135360542-135360542 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.998C>T; p.A333V; 5:135335097-135335097 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1017G>T; p.V339V; 5:135335078-135335078 |
liver | carcinoma | Substitution - coding silent |
c.479A>C; p.K160T; 5:135360606-135360606 |
liver | carcinoma | Substitution - Missense |
c.560C>T; p.S187F; 5:135360525-135360525 |
skin | malignant_melanoma | Substitution - Missense |
c.753G>T; p.K251N; 5:135345993-135345993 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.810C>A; p.A270A; 5:135343403-135343403 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.932T>G; p.F311C; 5:135343281-135343281 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.444delA; p.A149fs*49; 5:135369439-135369439 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.873A>T; p.E291D; 5:135343340-135343340 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.99G>T; p.K33N; 5:135388995-135388995 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.364G>A; p.G122R; 5:135369519-135369519 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.466C>T; p.R156W; 5:135369417-135369417 |
pancreas | carcinoma | Substitution - Missense |
c.438T>C; p.S146S; 5:135369445-135369445 |
bone; tibia | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.316T>A; p.L106I; 5:135369567-135369567 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.32C>T; p.T11I; 5:135389062-135389062 |
skin | malignant_melanoma | Substitution - Missense |
c.70C>T; p.P24S; 5:135389024-135389024 |
skin | malignant_melanoma | Substitution - Missense |
c.173C>T; p.A58V; 5:135370142-135370142 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.173C>T; p.A58V; 5:135370142-135370142 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1014C>T; p.F338F; 5:135335081-135335081 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.123T>C; p.I41I; 5:135388971-135388971 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.868C>G; p.L290V; 5:135343345-135343345 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.80G>T; p.R27L; 5:135389014-135389014 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.373G>A; p.E125K; 5:135369510-135369510 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1110C>T; p.D370D; 5:135334985-135334985 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.10C>T; p.R4C; 5:135389084-135389084 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.463G>A; p.A155T; 5:135369420-135369420 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.204G>A; p.A68A; 5:135370111-135370111 |
soft_tissue; blood_vessel | angiosarcoma | Substitution - coding silent |
c.153C>T; p.A51A; 5:135388941-135388941 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.513C>T; p.A171A; 5:135360572-135360572 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.513C>T; p.A171A; 5:135360572-135360572 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.352C>T; p.R118W; 5:135369531-135369531 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.25_27delAAG; p.K9delK; 5:135389067-135389069 |
stomach | adenocarcinoma | Deletion - In frame |
c.1098G>C; p.M366I; 5:135334997-135334997 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.9C>T; p.S3S; 5:135389085-135389085 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.166C>G; p.L56V; 5:135388928-135388928 |
oesophagus | carcinoma | Substitution - Missense |
c.162A>T; p.E54D; 5:135388932-135388932 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.162A>T; p.E54D; 5:135388932-135388932 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.8G>A; p.S3N; 5:135389086-135389086 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.288delA; p.G97fs*4; 5:135369595-135369595 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.88C>T; p.R30W; 5:135389006-135389006 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |