lung cancer gene and literature database Home

Annotation category 5

Basic annotation
Ontology and pathways
Literature evidence
Curated literatures
Expression
Gene expression chart
Somatic mutation
COSMIC and TCGA mutations
Network
Gene interaction
ceRNA
Gene-related ceRNA

Gene information

Gene ID	8379
Symbol	MAD1L1
Synonymous	MAD1\|PIG9\|TP53I9\|TXBP181
Full name	MAD1 mitotic arrest deficient-like 1 (yeast)
Gene description	MAD1-like protein 1\|mitotic arrest deficient 1-like protein 1\|mitotic checkpoint MAD1 protein homolog\|mitotic spindle assembly checkpoint protein MAD1\|mitotic-arrest deficient 1, yeast, homolog-like 1\|tax-binding protein 181\|tumor protein p53 inducible pr
Cytoband	7p22
Gene type	protein-coding
Synonymous	MIM:602686; HGNC:HGNC:6762; Ensembl:ENSG00000002822; HPRD:04065; Vega:OTTHUMG00000151493

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.699C>T; p.S233S; 7:2216267-2216267	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1727G>A; p.R576H; 7:1936767-1936767	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.717A>T; p.A239A; 7:2216249-2216249	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.1850G>A; p.R617Q; 7:1898348-1898348	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.632T>C; p.L211P; 7:2218008-2218008	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1850G>A; p.R617Q; 7:1898348-1898348	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.754C>T; p.L252F; 7:2216212-2216212	breast	carcinoma	Substitution - Missense
c.457G>A; p.A153T; 7:2222589-2222589	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.107C>T; p.S36L; 7:2230027-2230027	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.315G>A; p.E105E; 7:2222731-2222731	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.79G>T; p.G27*; 7:2230055-2230055	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1861G>C; p.V621L; 7:1898337-1898337	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.905G>T; p.G302V; 7:2215904-2215904	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1462G>A; p.E488K; 7:1980496-1980496	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1087G>A; p.E363K; 7:2069325-2069325	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.820G>A; p.E274K; 7:2215989-2215989	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1198C>T; p.R400W; 7:2069214-2069214	skin	malignant_melanoma	Substitution - Missense
c.798C>T; p.S266S; 7:2216168-2216168	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1488G>T; p.E496D; 7:1980470-1980470	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.447G>A; p.E149E; 7:2222599-2222599	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1060G>A; p.A354T; 7:2149165-2149165	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1239C>T; p.A413A; 7:2014622-2014622	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1673G>A; p.R558H; 7:1936821-1936821	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1726C>T; p.R576C; 7:1936768-1936768	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1012G>A; p.V338M; 7:2149213-2149213	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.532A>T; p.M178L; 7:2219396-2219396	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1726C>T; p.R576C; 7:1936768-1936768	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2083C>T; p.R695W; 7:1816144-1816144	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.875G>A; p.R292H; 7:2215934-2215934	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1468A>G; p.S490G; 7:1980490-1980490	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.545G>A; p.R182H; 7:2219383-2219383	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1530C>T; p.G510G; 7:1957695-1957695	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1079G>A; p.R360Q; 7:2069333-2069333	liver	carcinoma	Substitution - Missense
c.1079G>A; p.R360Q; 7:2069333-2069333	liver	carcinoma	Substitution - Missense
c.1234C>T; p.R412W; 7:2014627-2014627	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1126G>A; p.V376I; 7:2069286-2069286	skin	malignant_melanoma	Substitution - Missense
c.653G>A; p.R218K; 7:2217987-2217987	stomach	adenocarcinoma	Substitution - Missense
c.653G>A; p.R218K; 7:2217987-2217987	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.726G>A; p.V242V; 7:2216240-2216240	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1804G>A; p.A602T; 7:1936690-1936690	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.332G>C; p.R111P; 7:2222714-2222714	prostate	carcinoma	Substitution - Missense
c.1074-9C>G; p.?; 7:2069347-2069347	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.67C>T; p.Q23*; 7:2230067-2230067	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1662G>T; p.R554S; 7:1936832-1936832	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.918G>C; p.E306D; 7:2215891-2215891	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.15G>A; p.G5G; 7:2230119-2230119	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.637G>A; p.A213T; 7:2218003-2218003	haematopoietic_and_lymphoid_tissue; small_intestine	lymphoid_neoplasm; enteropathy_type_T_cell_lymphoma	Substitution - Missense
c.1132G>A; p.G378S; 7:2069280-2069280	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.71G>T; p.R24L; 7:2230063-2230063	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.109G>A; p.A37T; 7:2230025-2230025	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.309C>T; p.N103N; 7:2222737-2222737	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.35C>T; p.S12F; 7:2230099-2230099	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1515C>T; p.V505V; 7:1957710-1957710	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.486G>A; p.L162L; 7:2219442-2219442	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1973A>C; p.H658P; 7:1898225-1898225	breast	carcinoma	Substitution - Missense
c.2056G>A; p.V686M; 7:1816171-1816171	oesophagus	carcinoma	Substitution - Missense
c.610G>T; p.A204S; 7:2218030-2218030	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1667G>A; p.R556H; 7:1936827-1936827	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1809G>A; p.E603E; 7:1898389-1898389	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1611G>T; p.Q537H; 7:1936883-1936883	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.873G>A; p.G291G; 7:2215936-2215936	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1235G>C; p.R412P; 7:2014626-2014626	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1191C>T; p.L397L; 7:2069221-2069221	skin	malignant_melanoma	Substitution - coding silent
c.1387C>A; p.L463M; 7:2002094-2002094	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.323C>T; p.T108M; 7:2222723-2222723	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.663C>T; p.H221H; 7:2217977-2217977	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2144A>G; p.Q715R; 7:1816083-1816083	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.591A>C; p.Q197H; 7:2219337-2219337	kidney	other; neoplasm	Substitution - Missense
c.1571C>T; p.A524V; 7:1957654-1957654	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.664G>A; p.E222K; 7:2217976-2217976	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.326G>A; p.R109H; 7:2222720-2222720	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1582C>T; p.R528W; 7:1957643-1957643	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.708G>A; p.E236E; 7:2216258-2216258	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent
c.1582C>T; p.R528W; 7:1957643-1957643	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1582C>T; p.R528W; 7:1957643-1957643	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.974G>A; p.G325D; 7:2213224-2213224	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1912G>A; p.G638S; 7:1898286-1898286	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.305G>A; p.R102H; 7:2222741-2222741	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2084G>A; p.R695Q; 7:1816143-1816143	breast	carcinoma	Substitution - Missense
c.828C>T; p.N276N; 7:2215981-2215981	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.108G>A; p.S36S; 7:2230026-2230026	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.474C>T; p.T158T; 7:2219454-2219454	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1949G>A; p.R650Q; 7:1898249-1898249	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1144G>A; p.E382K; 7:2069268-2069268	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.481G>A; p.A161T; 7:2219447-2219447	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1473C>T; p.F491F; 7:1980485-1980485	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.245G>C; p.R82P; 7:2225456-2225456	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1052A>G; p.K351R; 7:2149173-2149173	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1716C>T; p.R572R; 7:1936778-1936778	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.801G>A; p.A267A; 7:2216165-2216165	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.536G>A; p.R179Q; 7:2219392-2219392	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1192C>T; p.Q398*; 7:2069220-2069220	skin	malignant_melanoma	Substitution - Nonsense
c.1982A>G; p.D661G; 7:1898216-1898216	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1143G>C; p.L381F; 7:2069269-2069269	oesophagus	carcinoma	Substitution - Missense
c.1063G>A; p.V355I; 7:2149162-2149162	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1063G>A; p.V355I; 7:2149162-2149162	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1184G>C; p.R395P; 7:2069228-2069228	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1317G>C; p.E439D; 7:2014544-2014544	liver	carcinoma	Substitution - Missense
c.1317G>C; p.E439D; 7:2014544-2014544	liver	carcinoma	Substitution - Missense
c.1018G>C; p.E340Q; 7:2149207-2149207	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1254C>T; p.Y418Y; 7:2014607-2014607	prostate	carcinoma	Substitution - coding silent
c.1171G>A; p.E391K; 7:2069241-2069241	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1241T>C; p.I414T; 7:2014620-2014620	skin	malignant_melanoma	Substitution - Missense
c.689A>G; p.Q230R; 7:2216277-2216277	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2148C>T; p.T716T; 7:1816079-1816079	large_intestine; rectum	NS	Substitution - coding silent
c.1583G>A; p.R528Q; 7:1957642-1957642	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1820A>G; p.Q607R; 7:1898378-1898378	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.259_260AG>TA; p.R87*; 7:2225441-2225442	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.807G>T; p.L269L; 7:2216159-2216159	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.307A>G; p.N103D; 7:2222739-2222739	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2013G>A; p.S671S; 7:1816214-1816214	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2013G>A; p.S671S; 7:1816214-1816214	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1509G>T; p.L503F; 7:1957716-1957716	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2085delG; p.R696fs*>23; 7:1816142-1816142	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1934C>T; p.T645M; 7:1898264-1898264	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.47C>T; p.S16F; 7:2230087-2230087	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.951G>A; p.W317*; 7:2213247-2213247	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.104C>T; p.T35I; 7:2230030-2230030	skin	malignant_melanoma	Substitution - Missense
c.1166C>T; p.T389I; 7:2069246-2069246	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.951G>A; p.W317*; 7:2213247-2213247	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.687G>A; p.E229E; 7:2216279-2216279	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1251C>A; p.S417S; 7:2014610-2014610	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1159C>T; p.R387C; 7:2069253-2069253	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1979G>T; p.G660V; 7:1898219-1898219	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.897G>A; p.T299T; 7:2215912-2215912	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1434G>T; p.K478N; 7:1980524-1980524	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.20delA; p.N7fs*8; 7:2230114-2230114	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.904G>T; p.G302C; 7:2215905-2215905	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.366G>A; p.E122E; 7:2222680-2222680	skin	malignant_melanoma	Substitution - coding silent
c.1075G>A; p.A359T; 7:2069337-2069337	prostate	carcinoma	Substitution - Missense
c.1181C>T; p.A394V; 7:2069231-2069231	skin	malignant_melanoma	Substitution - Missense
c.1315G>A; p.E439K; 7:2014546-2014546	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1011delC; p.F337fs*12; 7:2149214-2149214	prostate	carcinoma	Deletion - Frameshift
c.318C>T; p.L106L; 7:2222728-2222728	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1853T>G; p.L618R; 7:1898345-1898345	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.772G>T; p.E258*; 7:2216194-2216194	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1074C>T; p.S358S; 7:2069338-2069338	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.805C>T; p.L269L; 7:2216161-2216161	skin	malignant_melanoma	Substitution - coding silent
c.1170C>T; p.H390H; 7:2069242-2069242	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.692A>G; p.K231R; 7:2216274-2216274	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified	Substitution - Missense
c.2141G>A; p.R714H; 7:1816086-1816086	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1668C>T; p.R556R; 7:1936826-1936826	skin	malignant_melanoma	Substitution - coding silent
c.1773C>T; p.A591A; 7:1936721-1936721	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.175C>G; p.R59G; 7:2225526-2225526	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2086C>T; p.R696C; 7:1816141-1816141	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1911C>T; p.T637T; 7:1898287-1898287	autonomic_ganglia	neuroblastoma	Substitution - coding silent
c.1078C>T; p.R360W; 7:2069334-2069334	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1078C>T; p.R360W; 7:2069334-2069334	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1986C>T; p.C662C; 7:1898212-1898212	liver	carcinoma	Substitution - coding silent
c.1986C>T; p.C662C; 7:1898212-1898212	liver	carcinoma	Substitution - coding silent
c.1986C>T; p.C662C; 7:1898212-1898212	liver	carcinoma	Substitution - coding silent
c.523G>T; p.D175Y; 7:2219405-2219405	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2012C>T; p.S671L; 7:1816215-1816215	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2012C>T; p.S671L; 7:1816215-1816215	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2123C>T; p.T708I; 7:1816104-1816104	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.265G>T; p.A89S; 7:2225436-2225436	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1839G>T; p.L613L; 7:1898359-1898359	liver	carcinoma	Substitution - coding silent
c.1839G>T; p.L613L; 7:1898359-1898359	liver	carcinoma	Substitution - coding silent
c.1594C>G; p.Q532E; 7:1957631-1957631	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1889G>A; p.R630H; 7:1898309-1898309	lung	carcinoma; adenocarcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation