| Gene ID | 6494 |
| Symbol | SIPA1 |
| Synonymous | SPA1 |
| Full name | signal-induced proliferation-associated 1 |
| Gene description | GTPase-activating protein Spa-1|p130 SPA-1|signal-induced proliferation-associated gene 1|signal-induced proliferation-associated protein 1|sipa-1 |
| Cytoband | 11q13 |
| Gene type | protein-coding |
| Synonymous | MIM:602180; HGNC:HGNC:10885; Ensembl:ENSG00000213445; HPRD:03713; Vega:OTTHUMG00000166541 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.2566C>T; p.P856S; 11:65649601-65649601 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.9G>A; p.M3I; 11:65640930-65640930 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1368C>A; p.H456Q; 11:65646325-65646325 |
thyroid | other; neoplasm | Substitution - Missense |
c.205C>T; p.R69C; 11:65641126-65641126 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1098G>A; p.L366L; 11:65645068-65645068 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - coding silent |
c.595G>A; p.E199K; 11:65641516-65641516 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2798C>A; p.S933*; 11:65650001-65650001 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.2990C>T; p.A997V; 11:65650576-65650576 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.508G>A; p.G170R; 11:65641429-65641429 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.3084C>T; p.L1028L; 11:65650670-65650670 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1271_1273delGGA; p.R424_K425>Q; 11:65646228-65646230 |
breast | carcinoma | Complex - deletion inframe |
c.404T>G; p.M135R; 11:65641325-65641325 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1021C>T; p.R341W; 11:65644991-65644991 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1200G>C; p.Q400H; 11:65645894-65645894 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2294G>T; p.G765V; 11:65647646-65647646 |
thyroid | other; neoplasm | Substitution - Missense |
c.2863G>C; p.E955Q; 11:65650152-65650152 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2046C>T; p.G682G; 11:65647398-65647398 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.54G>T; p.A18A; 11:65640975-65640975 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2015T>C; p.V672A; 11:65647049-65647049 |
thyroid | other; neoplasm | Substitution - Missense |
c.359A>G; p.D120G; 11:65641280-65641280 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.2307G>T; p.R769S; 11:65649262-65649262 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1216T>G; p.F406V; 11:65645910-65645910 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2661C>T; p.G887G; 11:65649780-65649780 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1206C>T; p.H402H; 11:65645900-65645900 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2753C>T; p.S918L; 11:65649956-65649956 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1291G>A; p.D431N; 11:65646248-65646248 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1247C>G; p.P416R; 11:65645941-65645941 |
breast | carcinoma | Substitution - Missense |
c.2481G>A; p.E827E; 11:65649436-65649436 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.546C>T; p.S182S; 11:65641467-65641467 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2896G>A; p.D966N; 11:65650185-65650185 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.874_875CC>TT; p.P292L; 11:65642529-65642530 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.998G>A; p.R333H; 11:65644968-65644968 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2728C>T; p.R910W; 11:65649847-65649847 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.2728C>T; p.R910W; 11:65649847-65649847 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1404G>A; p.T468T; 11:65646361-65646361 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1230G>A; p.T410T; 11:65645924-65645924 |
skin | malignant_melanoma | Substitution - coding silent |
c.203C>T; p.P68L; 11:65641124-65641124 |
skin | malignant_melanoma | Substitution - Missense |
c.776A>T; p.H259L; 11:65642346-65642346 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.1022G>A; p.R341Q; 11:65644992-65644992 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.341G>A; p.R114Q; 11:65641262-65641262 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.2016G>T; p.V672V; 11:65647050-65647050 |
thyroid | other; neoplasm | Substitution - coding silent |
c.2470C>G; p.L824V; 11:65649425-65649425 |
ovary | other; neoplasm | Substitution - Missense |
c.2354delG; p.A787fs*12; 11:65649309-65649309 |
oesophagus | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2354delG; p.A787fs*12; 11:65649309-65649309 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1285G>A; p.G429S; 11:65646242-65646242 |
skin | malignant_melanoma | Substitution - Missense |
c.1562C>T; p.A521V; 11:65646596-65646596 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2613T>C; p.A871A; 11:65649648-65649648 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2655C>T; p.P885P; 11:65649774-65649774 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1116G>T; p.R372R; 11:65645086-65645086 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2721G>T; p.L907F; 11:65649840-65649840 |
pancreas | carcinoma | Substitution - Missense |
c.2721G>T; p.L907F; 11:65649840-65649840 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.3054G>A; p.A1018A; 11:65650640-65650640 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2704T>C; p.F902L; 11:65649823-65649823 |
liver | carcinoma | Substitution - Missense |
c.2704T>C; p.F902L; 11:65649823-65649823 |
liver | carcinoma | Substitution - Missense |
c.2781C>T; p.D927D; 11:65649984-65649984 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.468G>A; p.S156S; 11:65641389-65641389 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.1693C>G; p.R565G; 11:65646727-65646727 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.234C>T; p.A78A; 11:65641155-65641155 |
skin | malignant_melanoma | Substitution - coding silent |
c.903G>A; p.P301P; 11:65642558-65642558 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.903G>A; p.P301P; 11:65642558-65642558 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.848C>T; p.P283L; 11:65642503-65642503 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.189delC; p.T64fs*112; 11:65641110-65641110 |
prostate | carcinoma | Deletion - Frameshift |
c.616G>A; p.A206T; 11:65641537-65641537 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2543C>A; p.A848D; 11:65649578-65649578 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.208G>A; p.A70T; 11:65641129-65641129 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1080C>T; p.F360F; 11:65645050-65645050 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.680-1G>A; p.?; 11:65642249-65642249 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.165C>T; p.S55S; 11:65641086-65641086 |
pancreas | carcinoma | Substitution - coding silent |
c.926G>A; p.R309H; 11:65642581-65642581 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1968G>A; p.A656A; 11:65647002-65647002 |
skin | malignant_melanoma | Substitution - coding silent |
c.2530C>G; p.L844V; 11:65649565-65649565 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1331C>A; p.P444H; 11:65646288-65646288 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.2796C>G; p.I932M; 11:65649999-65649999 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2760G>A; p.A920A; 11:65649963-65649963 |
thyroid | other; neoplasm | Substitution - coding silent |
c.870G>A; p.L290L; 11:65642525-65642525 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2641A>T; p.R881W; 11:65649760-65649760 |
liver | carcinoma | Substitution - Missense |
c.2641A>T; p.R881W; 11:65649760-65649760 |
liver | carcinoma | Substitution - Missense |
c.2967G>A; p.Q989Q; 11:65650464-65650464 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2967G>A; p.Q989Q; 11:65650464-65650464 |
skin | malignant_melanoma | Substitution - coding silent |
c.1384C>T; p.R462W; 11:65646341-65646341 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2759C>T; p.A920V; 11:65649962-65649962 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2825T>C; p.I942T; 11:65650028-65650028 |
skin | malignant_melanoma | Substitution - Missense |
c.2576T>A; p.L859H; 11:65649611-65649611 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.2205T>G; p.T735T; 11:65647557-65647557 |
thyroid | other; neoplasm | Substitution - coding silent |
c.2205T>G; p.T735T; 11:65647557-65647557 |
thyroid | other; neoplasm | Substitution - coding silent |
c.2205T>G; p.T735T; 11:65647557-65647557 |
thyroid | other; neoplasm | Substitution - coding silent |
c.778A>G; p.S260G; 11:65642348-65642348 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1352G>A; p.R451H; 11:65646309-65646309 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1037C>T; p.S346L; 11:65645007-65645007 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3044G>A; p.R1015Q; 11:65650630-65650630 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.793G>A; p.V265M; 11:65642363-65642363 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2407A>G; p.T803A; 11:65649362-65649362 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.510G>A; p.G170G; 11:65641431-65641431 |
pancreas | carcinoma | Substitution - coding silent |
c.803C>T; p.T268M; 11:65642373-65642373 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2982+2T>G; p.?; 11:65650481-65650481 |
breast | carcinoma | Unknown |
c.2154G>C; p.E718D; 11:65647506-65647506 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2513T>C; p.L838P; 11:65649468-65649468 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.199_200insG; p.S67fs*25; 11:65641120-65641121 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1565G>A; p.R522H; 11:65646599-65646599 |
liver | carcinoma | Substitution - Missense |
c.395C>T; p.S132F; 11:65641316-65641316 |
skin | malignant_melanoma | Substitution - Missense |
c.1565G>A; p.R522H; 11:65646599-65646599 |
liver | carcinoma | Substitution - Missense |
c.2928G>T; p.E976D; 11:65650425-65650425 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2558A>C; p.N853T; 11:65649593-65649593 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1398C>T; p.P466P; 11:65646355-65646355 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2894C>T; p.S965F; 11:65650183-65650183 |
skin | malignant_melanoma | Substitution - Missense |
c.2631G>C; p.L877L; 11:65649666-65649666 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.2696G>T; p.R899M; 11:65649815-65649815 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2639A>C; p.D880A; 11:65649758-65649758 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.724G>A; p.A242T; 11:65642294-65642294 |
skin | malignant_melanoma | Substitution - Missense |
c.191C>T; p.T64M; 11:65641112-65641112 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2999C>T; p.A1000V; 11:65650585-65650585 |
lung | carcinoma | Substitution - Missense |
c.2999C>T; p.A1000V; 11:65650585-65650585 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1351C>T; p.R451C; 11:65646308-65646308 |
skin | malignant_melanoma | Substitution - Missense |
c.431G>T; p.G144V; 11:65641352-65641352 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.360C>G; p.D120E; 11:65641281-65641281 |
breast | carcinoma | Substitution - Missense |
c.2014G>T; p.V672L; 11:65647048-65647048 |
thyroid | other; neoplasm | Substitution - Missense |
c.2306+8T>G; p.?; 11:65647666-65647666 |
pancreas | carcinoid-endocrine_tumour | Unknown |
c.2680C>T; p.P894S; 11:65649799-65649799 |
skin | malignant_melanoma | Substitution - Missense |