| Gene ID | 114879 |
| Symbol | OSBPL5 |
| Synonymous | OBPH1|ORP5 |
| Full name | oxysterol binding protein-like 5 |
| Gene description | ORP-5|OSBP-related protein 5|oxysterol-binding protein homolog 1|oxysterol-binding protein homologue 1|oxysterol-binding protein-related protein 5 |
| Cytoband | 11p15.4 |
| Gene type | protein-coding |
| Synonymous | MIM:606733; HGNC:HGNC:16392; Ensembl:ENSG00000021762; HPRD:09475; Vega:OTTHUMG00000011702 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.549G>T; p.K183N; 11:3120478-3120478 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2549C>T; p.P850L; 11:3088296-3088296 |
pancreas | carcinoma | Substitution - Missense |
c.2450C>T; p.A817V; 11:3089897-3089897 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.189G>T; p.P63P; 11:3126503-3126503 |
breast | carcinoma | Substitution - coding silent |
c.1699C>T; p.Q567*; 11:3094257-3094257 |
skin | malignant_melanoma | Substitution - Nonsense |
c.2050C>T; p.R684W; 11:3092949-3092949 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1850G>A; p.S617N; 11:3093623-3093623 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2050C>T; p.R684W; 11:3092949-3092949 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.89G>A; p.R30Q; 11:3129060-3129060 |
pancreas | carcinoma | Substitution - Missense |
c.600C>T; p.A200A; 11:3120427-3120427 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2395C>A; p.P799T; 11:3090561-3090561 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1141G>T; p.G381C; 11:3104296-3104296 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.552C>T; p.D184D; 11:3120475-3120475 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2212G>T; p.V738L; 11:3092479-3092479 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2590C>T; p.L864F; 11:3088255-3088255 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2337A>T; p.G779G; 11:3090619-3090619 |
breast | carcinoma | Substitution - coding silent |
c.256_257delTG; p.S88fs*43; 11:3122391-3122392 |
lung | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.1340C>T; p.P447L; 11:3102268-3102268 |
pancreas | carcinoma | Substitution - Missense |
c.1340C>T; p.P447L; 11:3102268-3102268 |
pancreas | carcinoma | Substitution - Missense |
c.1928C>T; p.T643M; 11:3093545-3093545 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.44C>G; p.P15R; 11:3129105-3129105 |
skin | malignant_melanoma | Substitution - Missense |
c.2339C>A; p.S780Y; 11:3090617-3090617 |
central_nervous_system; brain | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.644C>T; p.P215L; 11:3119594-3119594 |
skin | malignant_melanoma | Substitution - Missense |
c.2328G>C; p.E776D; 11:3090628-3090628 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1818C>T; p.D606D; 11:3093655-3093655 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2296G>A; p.D766N; 11:3090660-3090660 |
breast | carcinoma | Substitution - Missense |
c.2366C>T; p.S789L; 11:3090590-3090590 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1869G>A; p.P623P; 11:3093604-3093604 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2401G>A; p.G801S; 11:3089946-3089946 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1440G>A; p.P480P; 11:3101685-3101685 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1738A>G; p.T580A; 11:3093817-3093817 |
skin | malignant_melanoma | Substitution - Missense |
c.1440G>A; p.P480P; 11:3101685-3101685 |
breast | carcinoma | Substitution - coding silent |
c.2077C>T; p.P693S; 11:3092922-3092922 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1996G>A; p.A666T; 11:3093003-3093003 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1814G>T; p.R605M; 11:3093659-3093659 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1814G>T; p.R605M; 11:3093659-3093659 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1843G>A; p.G615R; 11:3093630-3093630 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.681C>T; p.S227S; 11:3119557-3119557 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.681C>T; p.S227S; 11:3119557-3119557 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1524G>A; p.G508G; 11:3100255-3100255 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2374G>A; p.E792K; 11:3090582-3090582 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1560G>T; p.T520T; 11:3100219-3100219 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1560G>T; p.T520T; 11:3100219-3100219 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.1626C>A; p.I542I; 11:3094330-3094330 |
autonomic_ganglia | neuroblastoma | Substitution - coding silent |
c.1357G>C; p.G453R; 11:3102251-3102251 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1729G>A; p.G577R; 11:3093826-3093826 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2212_2214delGTG; p.V738delV; 11:3092477-3092479 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.2575C>G; p.R859G; 11:3088270-3088270 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2044C>A; p.R682S; 11:3092955-3092955 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1720-10G>C; p.?; 11:3093845-3093845 |
liver | carcinoma | Unknown |
c.1671C>T; p.I557I; 11:3094285-3094285 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.147G>A; p.M49I; 11:3126545-3126545 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.991G>A; p.E331K; 11:3107331-3107331 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.174G>T; p.R58S; 11:3126518-3126518 |
pancreas | carcinoma | Substitution - Missense |
c.1193C>G; p.S398C; 11:3104244-3104244 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.175G>A; p.D59N; 11:3126517-3126517 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.640C>T; p.Q214*; 11:3119598-3119598 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1215_1216insGAC; p.D405_Y406insD; 11:3104221-3104222 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - In frame |
c.776G>T; p.G259V; 11:3107861-3107861 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.624C>T; p.S208S; 11:3119614-3119614 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.624C>T; p.S208S; 11:3119614-3119614 |
prostate | carcinoma | Substitution - coding silent |
c.1184A>G; p.E395G; 11:3104253-3104253 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.2458G>A; p.E820K; 11:3089889-3089889 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.513G>A; p.L171L; 11:3120514-3120514 |
breast | carcinoma | Substitution - coding silent |
c.513G>A; p.L171L; 11:3120514-3120514 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.513G>A; p.L171L; 11:3120514-3120514 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.2039G>A; p.R680Q; 11:3092960-3092960 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1537G>A; p.A513T; 11:3100242-3100242 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2533C>T; p.R845W; 11:3088312-3088312 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1442C>T; p.P481L; 11:3101683-3101683 |
liver | carcinoma | Substitution - Missense |
c.1442C>T; p.P481L; 11:3101683-3101683 |
liver | carcinoma | Substitution - Missense |
c.88C>T; p.R30W; 11:3129061-3129061 |
skin | malignant_melanoma | Substitution - Missense |
c.2192G>A; p.R731Q; 11:3092499-3092499 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2018T>G; p.L673R; 11:3092981-3092981 |
skin | malignant_melanoma | Substitution - Missense |
c.1742G>T; p.S581I; 11:3093813-3093813 |
breast | carcinoma | Substitution - Missense |
c.1013G>A; p.R338Q; 11:3107309-3107309 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.970G>A; p.E324K; 11:3107352-3107352 |
breast | carcinoma | Substitution - Missense |
c.1398C>A; p.D466E; 11:3102210-3102210 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2554C>T; p.P852S; 11:3088291-3088291 |
skin | malignant_melanoma | Substitution - Missense |
c.579G>A; p.P193P; 11:3120448-3120448 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1942G>T; p.E648*; 11:3093531-3093531 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.833C>T; p.S278L; 11:3107804-3107804 |
breast | carcinoma | Substitution - Missense |
c.1539G>A; p.A513A; 11:3100240-3100240 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1187C>T; p.P396L; 11:3104250-3104250 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.495G>T; p.W165C; 11:3120532-3120532 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.441C>T; p.C147C; 11:3120586-3120586 |
liver | carcinoma | Substitution - coding silent |
c.441C>T; p.C147C; 11:3120586-3120586 |
breast | carcinoma | Substitution - coding silent |
c.921_922delGA; p.N308fs*2; 11:3107400-3107401 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2601C>T; p.F867F; 11:3088244-3088244 |
NS | malignant_melanoma | Substitution - coding silent |
c.2601C>T; p.F867F; 11:3088244-3088244 |
NS | malignant_melanoma | Substitution - coding silent |
c.218C>T; p.P73L; 11:3126474-3126474 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1426-4G>C; p.?; 11:3101703-3101703 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.2240G>A; p.S747N; 11:3092451-3092451 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2437C>T; p.R813W; 11:3089910-3089910 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.599C>T; p.A200V; 11:3120428-3120428 |
skin | malignant_melanoma | Substitution - Missense |
c.336C>T; p.R112R; 11:3122063-3122063 |
liver | carcinoma | Substitution - coding silent |
c.336C>T; p.R112R; 11:3122063-3122063 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.336C>T; p.R112R; 11:3122063-3122063 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.2284C>T; p.R762C; 11:3090672-3090672 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2340C>T; p.S780S; 11:3090616-3090616 |
skin | malignant_melanoma | Substitution - coding silent |
c.985C>T; p.Q329*; 11:3107337-3107337 |
skin | malignant_melanoma | Substitution - Nonsense |
c.615A>G; p.K205K; 11:3119623-3119623 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2509T>A; p.S837T; 11:3088336-3088336 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.312G>T; p.E104D; 11:3122087-3122087 |
thyroid | other; neoplasm | Substitution - Missense |
c.1502C>T; p.T501I; 11:3101623-3101623 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2580C>T; p.S860S; 11:3088265-3088265 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.261G>C; p.V87V; 11:3122387-3122387 |
liver | carcinoma | Substitution - coding silent |
c.261G>C; p.V87V; 11:3122387-3122387 |
liver | carcinoma | Substitution - coding silent |
c.935C>T; p.S312L; 11:3107387-3107387 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.453G>A; p.P151P; 11:3120574-3120574 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.1538C>T; p.A513V; 11:3100241-3100241 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1459G>A; p.V487I; 11:3101666-3101666 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.769C>T; p.R257*; 11:3107868-3107868 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.874G>T; p.G292W; 11:3107448-3107448 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2529G>T; p.T843T; 11:3088316-3088316 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.874G>T; p.G292W; 11:3107448-3107448 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.1347C>T; p.N449N; 11:3102261-3102261 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1402C>T; p.R468C; 11:3102206-3102206 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1402C>T; p.R468C; 11:3102206-3102206 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1757C>T; p.S586L; 11:3093798-3093798 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.578C>A; p.P193Q; 11:3120449-3120449 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.503C>T; p.T168M; 11:3120524-3120524 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2079G>A; p.P693P; 11:3092920-3092920 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1468C>T; p.R490W; 11:3101657-3101657 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1898G>T; p.R633M; 11:3093575-3093575 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2347G>C; p.E783Q; 11:3090609-3090609 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2218C>T; p.R740C; 11:3092473-3092473 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1158C>T; p.R386R; 11:3104279-3104279 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1135C>T; p.R379W; 11:3104302-3104302 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.823C>T; p.L275L; 11:3107814-3107814 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.160C>T; p.P54S; 11:3126532-3126532 |
skin | malignant_melanoma | Substitution - Missense |
c.1871G>A; p.S624N; 11:3093602-3093602 |
skin | malignant_melanoma | Substitution - Missense |
c.2393T>C; p.V798A; 11:3090563-3090563 |
liver | carcinoma | Substitution - Missense |
c.2393T>C; p.V798A; 11:3090563-3090563 |
liver | carcinoma | Substitution - Missense |
c.1584G>A; p.E528E; 11:3100195-3100195 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.575A>C; p.H192P; 11:3120452-3120452 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2133-3C>T; p.?; 11:3092561-3092561 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.1000G>T; p.G334W; 11:3107322-3107322 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2336G>T; p.G779V; 11:3090620-3090620 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.2295C>T; p.S765S; 11:3090661-3090661 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2215delG; p.A739fs*102; 11:3092476-3092476 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.2379G>A; p.Q793Q; 11:3090577-3090577 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.423C>G; p.S141R; 11:3120604-3120604 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.2419C>T; p.R807W; 11:3089928-3089928 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2419C>T; p.R807W; 11:3089928-3089928 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.840C>T; p.T280T; 11:3107797-3107797 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2419C>T; p.R807W; 11:3089928-3089928 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2419C>T; p.R807W; 11:3089928-3089928 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.138G>A; p.G46G; 11:3126554-3126554 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1002G>T; p.G334G; 11:3107320-3107320 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.465C>A; p.L155L; 11:3120562-3120562 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.90G>A; p.R30R; 11:3129059-3129059 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1452C>T; p.A484A; 11:3101673-3101673 |
skin | malignant_melanoma | Substitution - coding silent |
c.812C>T; p.S271L; 11:3107825-3107825 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2051G>A; p.R684Q; 11:3092948-3092948 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.663G>A; p.L221L; 11:3119575-3119575 |
breast | carcinoma | Substitution - coding silent |
c.1170C>A; p.P390P; 11:3104267-3104267 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.930G>T; p.E310D; 11:3107392-3107392 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1810-1G>T; p.?; 11:3093664-3093664 |
lung | carcinoma; adenocarcinoma | Unknown |
c.1349C>T; p.P450L; 11:3102259-3102259 |
skin | malignant_melanoma | Substitution - Missense |
c.1212C>T; p.S404S; 11:3104225-3104225 |
skin | malignant_melanoma | Substitution - coding silent |
c.1908G>A; p.T636T; 11:3093565-3093565 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |