| Gene information | Literature | Expression | lncRNA | Mutation | Homolog |
Basic Information | |
|---|---|
Gene ID | 10419 |
Name | PRMT5 |
Synonymous | protein arginine methyltransferase 5;PRMT5;protein arginine methyltransferase 5 |
Definition | 72 kDa ICln-binding protein|HMT1 hnRNP methyltransferase-like 5|SKB1 homolog|histone-arginine N-methyltransferase PRMT5|jak-binding protein 1|protein arginine N-methyltransferase 5|shk1 kinase-binding protein 1 homolog |
Position | 14q11.2 |
Gene Type | protein-coding |
COSMIC confirmed somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1093G>A; p.G365R; 14:22924376-22924376 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.23delG; p.G8fs*13; 14:22929339-22929339 |
bone; pelvis | chondrosarcoma | Deletion - Frameshift |
c.1080A>G; p.V360V; 14:22924389-22924389 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.31G>T; p.G11W; 14:22929331-22929331 |
breast | carcinoma | Substitution - Missense |
c.944T>C; p.L315P; 14:22924705-22924705 |
breast | carcinoma | Substitution - Missense |
c.646C>T; p.H216Y; 14:22926264-22926264 |
breast | carcinoma | Substitution - Missense |
c.1582C>T; p.P528S; 14:22922557-22922557 |
breast | carcinoma | Substitution - Missense |
c.115G>C; p.D39H; 14:22928611-22928611 |
breast | carcinoma | Substitution - Missense |
c.507G>A; p.E169E; 14:22926758-22926758 |
breast | carcinoma | Substitution - coding silent |
c.759C>T; p.L253L; 14:22926151-22926151 |
breast | carcinoma | Substitution - coding silent |
c.644A>G; p.N215S; 14:22926266-22926266 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1861G>A; p.V621I; 14:22920957-22920957 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.614-1G>T; p.?; 14:22926297-22926297 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.1096G>A; p.A366T; 14:22924373-22924373 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1199+1G>A; p.?; 14:22924269-22924269 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.1697-2A>G; p.?; 14:22922242-22922242 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.298C>T; p.R100C; 14:22928143-22928143 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1204G>C; p.E402Q; 14:22924179-22924179 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.309C>T; p.S103S; 14:22928132-22928132 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.734T>C; p.V245A; 14:22926176-22926176 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.272G>A; p.R91H; 14:22928169-22928169 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1909C>A; p.L637I; 14:22920909-22920909 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.260C>A; p.S87Y; 14:22928181-22928181 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1407T>C; p.T469T; 14:22923129-22923129 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.567G>A; p.W189*; 14:22926552-22926552 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Nonsense |
c.248T>C; p.V83A; 14:22928193-22928193 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.1223A>T; p.E408V; 14:22924160-22924160 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.143C>T; p.P48L; 14:22928583-22928583 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1338G>A; p.S446S; 14:22924045-22924045 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.856T>C; p.Y286H; 14:22924962-22924962 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1A>G; p.M1V; 14:22929361-22929361 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1007A>G; p.Q336R; 14:22924642-22924642 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1815C>T; p.C605C; 14:22921003-22921003 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1600C>T; p.R534C; 14:22922539-22922539 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.766C>T; p.R256W; 14:22926144-22926144 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1772C>T; p.T591M; 14:22921046-22921046 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.240G>A; p.T80T; 14:22928201-22928201 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.888C>A; p.A296A; 14:22924930-22924930 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1150C>T; p.R384W; 14:22924319-22924319 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.897C>A; p.L299L; 14:22924921-22924921 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1697-2A>C; p.?; 14:22922242-22922242 |
large_intestine; caecum | carcinoma; adenocarcinoma | Unknown |
c.927G>A; p.Q309Q; 14:22924891-22924891 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.239C>T; p.T80M; 14:22928202-22928202 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.366C>A; p.F122L; 14:22927610-22927610 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1396G>A; p.G466R; 14:22923140-22923140 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1042C>T; p.R348*; 14:22924513-22924513 |
liver | carcinoma | Substitution - Nonsense |
c.1042C>T; p.R348*; 14:22924513-22924513 |
liver | carcinoma | Substitution - Nonsense |
c.145C>T; p.R49C; 14:22928581-22928581 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.145C>T; p.R49C; 14:22928581-22928581 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1132G>C; p.A378P; 14:22924337-22924337 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.993C>A; p.P331P; 14:22924656-22924656 |
lung | carcinoma; small_cell_carcinoma | Substitution - coding silent |
c.1443C>A; p.Y481*; 14:22923093-22923093 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1842G>T; p.E614D; 14:22920976-22920976 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.15G>T; p.A5A; 14:22929347-22929347 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.15G>T; p.A5A; 14:22929347-22929347 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.327_328GG>TT; p.Q109>?; 14:22927648-22927649 |
lung | carcinoma; adenocarcinoma | Complex |
c.858C>A; p.Y286*; 14:22924960-22924960 |
lung | carcinoma; small_cell_carcinoma | Substitution - Nonsense |
c.190G>T; p.G64C; 14:22928536-22928536 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1895C>T; p.S632L; 14:22920923-22920923 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1006C>G; p.Q336E; 14:22924643-22924643 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.659G>A; p.R220H; 14:22926251-22926251 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.658C>T; p.R220C; 14:22926252-22926252 |
pancreas | carcinoma | Substitution - Missense |
c.111G>T; p.G37G; 14:22928615-22928615 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.614-1G>C; p.?; 14:22926297-22926297 |
prostate | carcinoma; adenocarcinoma | Unknown |
c.1543C>T; p.P515S; 14:22922778-22922778 |
skin | malignant_melanoma | Substitution - Missense |
c.1421C>T; p.P474L; 14:22923115-22923115 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.298C>T; p.R100C; 14:22928143-22928143 |
skin | malignant_melanoma | Substitution - Missense |
c.1621C>T; p.P541S; 14:22922518-22922518 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.1248C>T; p.V416V; 14:22924135-22924135 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1124C>T; p.S375F; 14:22924345-22924345 |
skin | malignant_melanoma | Substitution - Missense |
c.443C>T; p.S148F; 14:22927533-22927533 |
skin | malignant_melanoma | Substitution - Missense |
c.1409C>T; p.S470F; 14:22923127-22923127 |
skin | malignant_melanoma | Substitution - Missense |
c.13G>A; p.A5T; 14:22929349-22929349 |
skin | malignant_melanoma | Substitution - Missense |
c.1365C>T; p.H455H; 14:22924018-22924018 |
skin | malignant_melanoma | Substitution - coding silent |
c.1410C>T; p.S470S; 14:22923126-22923126 |
skin | malignant_melanoma | Substitution - coding silent |
c.730C>T; p.P244S; 14:22926180-22926180 |
skin | malignant_melanoma | Substitution - Missense |
c.916G>C; p.D306H; 14:22924902-22924902 |
skin | malignant_melanoma | Substitution - Missense |
c.364T>A; p.F122I; 14:22927612-22927612 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1490A>G; p.Q497R; 14:22922831-22922831 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1209C>T; p.N403N; 14:22924174-22924174 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.202C>T; p.R68*; 14:22928524-22928524 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.829T>C; p.F277L; 14:22924989-22924989 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1462A>G; p.R488G; 14:22923074-22923074 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.450+2T>C; p.?; 14:22927524-22927524 |
stomach | carcinoma; intestinal_adenocarcinoma | Unknown |
c.20G>T; p.G7V; 14:22929342-22929342 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.20G>T; p.G7V; 14:22929342-22929342 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.736C>T; p.L246F; 14:22926174-22926174 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.206C>G; p.S69*; 14:22928520-22928520 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.496G>A; p.D166N; 14:22926769-22926769 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.955C>G; p.L319V; 14:22924694-22924694 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.955C>G; p.L319V; 14:22924694-22924694 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.955C>G; p.L319V; 14:22924694-22924694 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.143C>A; p.P48Q; 14:22928583-22928583 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1006C>T; p.Q336*; 14:22924643-22924643 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.996C>G; p.I332M; 14:22924653-22924653 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.73G>A; p.E25K; 14:22929289-22929289 |
urinary_tract; bladder | carcinoma | Substitution - Missense |