| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 5352 |
Name | PLOD2 |
Synonymous | procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2;PLOD2;procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 |
Definition | lysine hydroxylase 2|lysyl hydroxlase 2|lysyl hydroxylase 2|procollagen-lysine,2-oxoglutarate 5-dioxygenase 2|telopeptide lysyl hydroxylase |
Position | 3q24 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1495G>T; p.E499*; 3:146079121-146079121 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1450C>T; p.R484C; 3:146079166-146079166 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.723G>T; p.K241N; 3:146102809-146102809 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2221G>T; p.G741*; 3:146070773-146070773 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1023G>A; p.K341K; 3:146086891-146086891 |
breast | carcinoma; HER-positive_carcinoma | Substitution - coding silent |
c.1078G>T; p.V360L; 3:146086836-146086836 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.485G>A; p.R162H; 3:146110302-146110302 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1924G>A; p.V642I; 3:146071348-146071348 |
soft_tissue; striated_muscle | rhabdomyosarcoma; alveolar | Substitution - Missense |
c.119T>C; p.L40S; 3:146124220-146124220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1185T>A; p.V395V; 3:146085216-146085216 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.415G>T; p.A139S; 3:146110372-146110372 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.351A>G; p.I117M; 3:146110436-146110436 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.197T>C; p.V66A; 3:146124142-146124142 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1063A>G; p.K355E; 3:146086851-146086851 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.74G>A; p.G25D; 3:146160916-146160916 |
kidney | other; neoplasm | Substitution - Missense |
c.1778C>G; p.S593C; 3:146072631-146072631 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1942C>T; p.R648W; 3:146071330-146071330 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1942C>T; p.R648W; 3:146071330-146071330 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1495G>A; p.E499K; 3:146079121-146079121 |
skin | malignant_melanoma | Substitution - Missense |
c.1484G>A; p.R495Q; 3:146079132-146079132 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1484G>A; p.R495Q; 3:146079132-146079132 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1484G>A; p.R495Q; 3:146079132-146079132 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.963G>A; p.L321L; 3:146088628-146088628 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.2257G>A; p.V753M; 3:146070737-146070737 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.898A>G; p.I300V; 3:146088693-146088693 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.672A>T; p.G224G; 3:146104286-146104286 |
kidney | other; neoplasm | Substitution - coding silent |
c.2074A>G; p.T692A; 3:146071089-146071089 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1078G>A; p.V360I; 3:146086836-146086836 |
skin | malignant_melanoma | Substitution - Missense |
c.219A>C; p.E73D; 3:146121231-146121231 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.997C>T; p.H333Y; 3:146088594-146088594 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.1626C>A; p.Y542*; 3:146076833-146076833 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.1626C>A; p.Y542*; 3:146076833-146076833 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.753A>G; p.A251A; 3:146102779-146102779 |
liver | carcinoma | Substitution - coding silent |
c.1626C>A; p.Y542*; 3:146076833-146076833 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.1626C>A; p.Y542*; 3:146076833-146076833 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.160C>T; p.R54*; 3:146124179-146124179 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1128G>A; p.M376I; 3:146085273-146085273 |
skin | malignant_melanoma | Substitution - Missense |
c.160C>T; p.R54*; 3:146124179-146124179 |
breast | carcinoma | Substitution - Nonsense |
c.1700A>G; p.N567S; 3:146073330-146073330 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.883C>T; p.H295Y; 3:146088708-146088708 |
skin | malignant_melanoma | Substitution - Missense |
c.213A>G; p.Q71Q; 3:146121237-146121237 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1569A>T; p.V523V; 3:146076890-146076890 |
breast | carcinoma | Substitution - coding silent |
c.484C>T; p.R162C; 3:146110303-146110303 |
stomach | adenocarcinoma | Substitution - Missense |
c.1319G>A; p.R440Q; 3:146081777-146081777 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1319G>A; p.R440Q; 3:146081777-146081777 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1319G>A; p.R440Q; 3:146081777-146081777 |
skin | malignant_melanoma | Substitution - Missense |
c.2104G>A; p.V702M; 3:146071059-146071059 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1836G>A; p.G612G; 3:146072573-146072573 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2038C>T; p.R680*; 3:146071125-146071125 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.680-1G>T; p.?; 3:146102853-146102853 |
lung | carcinoma; small_cell_carcinoma | Unknown |
c.931C>T; p.L311L; 3:146088660-146088660 |
skin | malignant_melanoma | Substitution - coding silent |
c.832G>T; p.G278C; 3:146091847-146091847 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1405G>A; p.G469R; 3:146079211-146079211 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.931C>T; p.L311L; 3:146088660-146088660 |
skin | malignant_melanoma | Substitution - coding silent |
c.1405G>A; p.G469R; 3:146079211-146079211 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1793A>T; p.D598V; 3:146072616-146072616 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.587C>T; p.T196I; 3:146106560-146106560 |
meninges | meningioma; secretory | Substitution - Missense |
c.2039G>A; p.R680Q; 3:146071124-146071124 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1917G>C; p.L639L; 3:146071355-146071355 |
pancreas | carcinoma | Substitution - coding silent |
c.853G>A; p.D285N; 3:146091826-146091826 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.616-8T>C; p.?; 3:146104350-146104350 |
pancreas | carcinoma | Unknown |
c.755T>G; p.I252S; 3:146102777-146102777 |
haematopoietic_and_lymphoid_tissue; breast | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.1280A>G; p.N427S; 3:146081816-146081816 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.250A>T; p.I84F; 3:146121200-146121200 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1759T>G; p.F587V; 3:146072650-146072650 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.96G>A; p.S32S; 3:146160894-146160894 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1340T>C; p.I447T; 3:146081756-146081756 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.384delA; p.K128fs*23; 3:146110403-146110403 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1294T>A; p.L432M; 3:146081802-146081802 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.591A>C; p.K197N; 3:146106556-146106556 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1807G>T; p.E603*; 3:146072602-146072602 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.663C>T; p.T221T; 3:146104295-146104295 |
skin | malignant_melanoma | Substitution - coding silent |
c.700G>C; p.E234Q; 3:146102832-146102832 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1575G>A; p.M525I; 3:146076884-146076884 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1032G>T; p.K344N; 3:146086882-146086882 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.826G>T; p.D276Y; 3:146091853-146091853 |
bone; femur | chondrosarcoma | Substitution - Missense |
c.2072C>T; p.S691F; 3:146071091-146071091 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1929G>C; p.W643C; 3:146071343-146071343 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.161G>A; p.R54Q; 3:146124178-146124178 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.161G>A; p.R54Q; 3:146124178-146124178 |
skin; arm | malignant_melanoma | Substitution - Missense |
c.283G>T; p.E95*; 3:146121167-146121167 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1477C>T; p.L493F; 3:146079139-146079139 |
liver | carcinoma | Substitution - Missense |
c.1477C>T; p.L493F; 3:146079139-146079139 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.229G>T; p.G77C; 3:146121221-146121221 |
pancreas | carcinoma | Substitution - Missense |
c.935C>A; p.P312H; 3:146088656-146088656 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1559delC; p.P520fs*47; 3:146077866-146077866 |
stomach | adenocarcinoma | Deletion - Frameshift |
c.34C>G; p.L12V; 3:146160956-146160956 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.387C>T; p.F129F; 3:146110400-146110400 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1132T>C; p.F378L; 3:146085269-146085269 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2113G>A; p.D705N; 3:146071050-146071050 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.743T>A; p.L248*; 3:146102789-146102789 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.497C>T; p.S166L; 3:146110290-146110290 |
skin | malignant_melanoma | Substitution - Missense |
c.1795G>C; p.E599Q; 3:146072614-146072614 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.631A>G; p.T211A; 3:146104327-146104327 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.951A>G; p.I317M; 3:146088640-146088640 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.77C>T; p.A26V; 3:146160913-146160913 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1748G>C; p.C583S; 3:146072661-146072661 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1625A>G; p.Y542C; 3:146076834-146076834 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2025delA; p.K675fs*21; 3:146071138-146071138 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.537A>G; p.I179M; 3:146106610-146106610 |
skin | malignant_melanoma | Substitution - Missense |
c.1862C>A; p.S621Y; 3:146071410-146071410 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1767C>T; p.F589F; 3:146072642-146072642 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.560A>G; p.D187G; 3:146106587-146106587 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.927T>G; p.P309P; 3:146088664-146088664 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1895T>C; p.I632T; 3:146071377-146071377 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1925T>C; p.V642A; 3:146071347-146071347 |
pancreas | carcinoma | Substitution - Missense |
c.160C>G; p.R54G; 3:146124179-146124179 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1925T>C; p.V642A; 3:146071347-146071347 |
pancreas | carcinoma | Substitution - Missense |
c.238G>A; p.G80R; 3:146121212-146121212 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.569A>C; p.D190A; 3:146106578-146106578 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.245A>G; p.N82S; 3:146121205-146121205 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1500G>T; p.M500I; 3:146079116-146079116 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.284A>G; p.E95G; 3:146121166-146121166 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1563G>T; p.K521N; 3:146077862-146077862 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1258C>T; p.R420C; 3:146081838-146081838 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2064T>C; p.H688H; 3:146071099-146071099 |
breast | carcinoma | Substitution - coding silent |
c.783C>A; p.L261L; 3:146091896-146091896 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1004A>T; p.K335I; 3:146088587-146088587 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.423T>C; p.D141D; 3:146110364-146110364 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1702C>T; p.R568C; 3:146073328-146073328 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.823C>G; p.Q275E; 3:146091856-146091856 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.414T>C; p.F138F; 3:146110373-146110373 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.927T>C; p.P309P; 3:146088664-146088664 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.393G>T; p.K131N; 3:146110394-146110394 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.825G>A; p.Q275Q; 3:146091854-146091854 |
breast | carcinoma | Substitution - coding silent |
c.1995+4G>A; p.?; 3:146071273-146071273 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Unknown |
c.620C>A; p.A207D; 3:146104338-146104338 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1589G>T; p.R530I; 3:146076870-146076870 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2171G>A; p.R724Q; 3:146070823-146070823 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.210T>C; p.G70G; 3:146121240-146121240 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.458A>C; p.K153T; 3:146110329-146110329 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.862G>A; p.D288N; 3:146091817-146091817 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.862G>A; p.D288N; 3:146091817-146091817 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.862G>A; p.D288N; 3:146091817-146091817 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1437G>A; p.R479R; 3:146079179-146079179 |
skin | malignant_melanoma | Substitution - coding silent |
c.1902G>T; p.M634I; 3:146071370-146071370 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.852C>T; p.F284F; 3:146091827-146091827 |
skin | malignant_melanoma | Substitution - coding silent |
c.1902G>T; p.M634I; 3:146071370-146071370 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.852C>T; p.F284F; 3:146091827-146091827 |
skin | malignant_melanoma | Substitution - coding silent |
c.1123G>T; p.G375*; 3:146086791-146086791 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.8delG; p.G3fs*4; 3:146160982-146160982 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.964G>A; p.D322N; 3:146088627-146088627 |
pancreas | carcinoma | Substitution - Missense |
c.1703G>A; p.R568H; 3:146073327-146073327 |
breast | carcinoma | Substitution - Missense |
c.964G>A; p.D322N; 3:146088627-146088627 |
pancreas | carcinoma | Substitution - Missense |
c.1918G>T; p.E640*; 3:146071354-146071354 |
pancreas | carcinoma | Substitution - Nonsense |
c.2170C>T; p.R724*; 3:146070824-146070824 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.892G>A; p.V298I; 3:146088699-146088699 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1946A>T; p.E649V; 3:146071326-146071326 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1869T>C; p.G623G; 3:146071403-146071403 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1869T>C; p.G623G; 3:146071403-146071403 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2053C>T; p.R685C; 3:146071110-146071110 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1030A>C; p.K344Q; 3:146086884-146086884 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.500G>A; p.G167E; 3:146110287-146110287 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1795G>A; p.E599K; 3:146072614-146072614 |
skin | malignant_melanoma | Substitution - Missense |
c.441T>C; p.D147D; 3:146110346-146110346 |
lung | carcinoid-endocrine_tumour; typical | Substitution - coding silent |
c.1583C>G; p.S528C; 3:146076876-146076876 |
breast | carcinoma | Substitution - Missense |
c.1018G>A; p.E340K; 3:146086896-146086896 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |