Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)
bioinfom_tsdb
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

8379

Name

MAD1L1

Synonymous

MAD1 mitotic arrest deficient-like 1 (yeast);MAD1L1;MAD1 mitotic arrest deficient-like 1 (yeast)

Definition

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

Position

7p22

Gene Type

protein-coding

Mutation summary:

Mutations in domains
Mutational pattern in 17 major cancer types
LoF vs missense mutations
All the copy number variations from COSMIC database V72
All the mutations from COSMIC database V72

Mutation summary in protein domains

Top

We used uniprot protein structure data from ensemble BioMart database. The size of circle shows the relative mutation number.

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Top

The non-synonymous mutational pattern in 17 major cancer types.
The synonymous mutational pattern in 17 major cancer types.

Loss of Function mutations compare to missense mutations

Top

Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.06.

The copy number variations for various cancers

Top

The copy number variations in 17 major cancer groups: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.699C>T; p.S233S; 7:2216267-2216267

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1727G>A; p.R576H; 7:1936767-1936767

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.717A>T; p.A239A; 7:2216249-2216249

 lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.1850G>A; p.R617Q; 7:1898348-1898348

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.632T>C; p.L211P; 7:2218008-2218008

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1850G>A; p.R617Q; 7:1898348-1898348

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.754C>T; p.L252F; 7:2216212-2216212

 breastcarcinomaSubstitution - Missense

c.457G>A; p.A153T; 7:2222589-2222589

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.107C>T; p.S36L; 7:2230027-2230027

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.315G>A; p.E105E; 7:2222731-2222731

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.79G>T; p.G27*; 7:2230055-2230055

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1861G>C; p.V621L; 7:1898337-1898337

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.905G>T; p.G302V; 7:2215904-2215904

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1462G>A; p.E488K; 7:1980496-1980496

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1087G>A; p.E363K; 7:2069325-2069325

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.820G>A; p.E274K; 7:2215989-2215989

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1198C>T; p.R400W; 7:2069214-2069214

 skinmalignant_melanomaSubstitution - Missense

c.798C>T; p.S266S; 7:2216168-2216168

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1488G>T; p.E496D; 7:1980470-1980470

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.447G>A; p.E149E; 7:2222599-2222599

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1060G>A; p.A354T; 7:2149165-2149165

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1239C>T; p.A413A; 7:2014622-2014622

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1673G>A; p.R558H; 7:1936821-1936821

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1726C>T; p.R576C; 7:1936768-1936768

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1012G>A; p.V338M; 7:2149213-2149213

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.532A>T; p.M178L; 7:2219396-2219396

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1726C>T; p.R576C; 7:1936768-1936768

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2083C>T; p.R695W; 7:1816144-1816144

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.875G>A; p.R292H; 7:2215934-2215934

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1468A>G; p.S490G; 7:1980490-1980490

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.545G>A; p.R182H; 7:2219383-2219383

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1530C>T; p.G510G; 7:1957695-1957695

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1079G>A; p.R360Q; 7:2069333-2069333

 livercarcinomaSubstitution - Missense

c.1079G>A; p.R360Q; 7:2069333-2069333

 livercarcinomaSubstitution - Missense

c.1234C>T; p.R412W; 7:2014627-2014627

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1126G>A; p.V376I; 7:2069286-2069286

 skinmalignant_melanomaSubstitution - Missense

c.653G>A; p.R218K; 7:2217987-2217987

 stomachadenocarcinomaSubstitution - Missense

c.653G>A; p.R218K; 7:2217987-2217987

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.726G>A; p.V242V; 7:2216240-2216240

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1804G>A; p.A602T; 7:1936690-1936690

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.332G>C; p.R111P; 7:2222714-2222714

 prostatecarcinomaSubstitution - Missense

c.1074-9C>G; p.?; 7:2069347-2069347

 livercarcinoma; hepatocellular_carcinomaUnknown

c.67C>T; p.Q23*; 7:2230067-2230067

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.1662G>T; p.R554S; 7:1936832-1936832

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.918G>C; p.E306D; 7:2215891-2215891

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.15G>A; p.G5G; 7:2230119-2230119

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.637G>A; p.A213T; 7:2218003-2218003

 haematopoietic_and_lymphoid_tissue; small_intestinelymphoid_neoplasm; enteropathy_type_T_cell_lymphomaSubstitution - Missense

c.1132G>A; p.G378S; 7:2069280-2069280

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.71G>T; p.R24L; 7:2230063-2230063

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.109G>A; p.A37T; 7:2230025-2230025

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.309C>T; p.N103N; 7:2222737-2222737

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.35C>T; p.S12F; 7:2230099-2230099

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1515C>T; p.V505V; 7:1957710-1957710

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.486G>A; p.L162L; 7:2219442-2219442

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1973A>C; p.H658P; 7:1898225-1898225

 breastcarcinomaSubstitution - Missense

c.2056G>A; p.V686M; 7:1816171-1816171

 oesophaguscarcinomaSubstitution - Missense

c.610G>T; p.A204S; 7:2218030-2218030

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1667G>A; p.R556H; 7:1936827-1936827

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1809G>A; p.E603E; 7:1898389-1898389

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1611G>T; p.Q537H; 7:1936883-1936883

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.873G>A; p.G291G; 7:2215936-2215936

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1235G>C; p.R412P; 7:2014626-2014626

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1191C>T; p.L397L; 7:2069221-2069221

 skinmalignant_melanomaSubstitution - coding silent

c.1387C>A; p.L463M; 7:2002094-2002094

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.323C>T; p.T108M; 7:2222723-2222723

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.663C>T; p.H221H; 7:2217977-2217977

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2144A>G; p.Q715R; 7:1816083-1816083

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.591A>C; p.Q197H; 7:2219337-2219337

 kidneyother; neoplasmSubstitution - Missense

c.1571C>T; p.A524V; 7:1957654-1957654

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.664G>A; p.E222K; 7:2217976-2217976

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.326G>A; p.R109H; 7:2222720-2222720

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1582C>T; p.R528W; 7:1957643-1957643

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.708G>A; p.E236E; 7:2216258-2216258

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - coding silent

c.1582C>T; p.R528W; 7:1957643-1957643

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1582C>T; p.R528W; 7:1957643-1957643

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.974G>A; p.G325D; 7:2213224-2213224

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1912G>A; p.G638S; 7:1898286-1898286

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.305G>A; p.R102H; 7:2222741-2222741

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2084G>A; p.R695Q; 7:1816143-1816143

 breastcarcinomaSubstitution - Missense

c.828C>T; p.N276N; 7:2215981-2215981

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.108G>A; p.S36S; 7:2230026-2230026

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.474C>T; p.T158T; 7:2219454-2219454

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1949G>A; p.R650Q; 7:1898249-1898249

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1144G>A; p.E382K; 7:2069268-2069268

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.481G>A; p.A161T; 7:2219447-2219447

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1473C>T; p.F491F; 7:1980485-1980485

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.245G>C; p.R82P; 7:2225456-2225456

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1052A>G; p.K351R; 7:2149173-2149173

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1716C>T; p.R572R; 7:1936778-1936778

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.801G>A; p.A267A; 7:2216165-2216165

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.536G>A; p.R179Q; 7:2219392-2219392

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1192C>T; p.Q398*; 7:2069220-2069220

 skinmalignant_melanomaSubstitution - Nonsense

c.1982A>G; p.D661G; 7:1898216-1898216

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1143G>C; p.L381F; 7:2069269-2069269

 oesophaguscarcinomaSubstitution - Missense

c.1063G>A; p.V355I; 7:2149162-2149162

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1063G>A; p.V355I; 7:2149162-2149162

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1184G>C; p.R395P; 7:2069228-2069228

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1317G>C; p.E439D; 7:2014544-2014544

 livercarcinomaSubstitution - Missense

c.1317G>C; p.E439D; 7:2014544-2014544

 livercarcinomaSubstitution - Missense

c.1018G>C; p.E340Q; 7:2149207-2149207

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1254C>T; p.Y418Y; 7:2014607-2014607

 prostatecarcinomaSubstitution - coding silent

c.1171G>A; p.E391K; 7:2069241-2069241

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1241T>C; p.I414T; 7:2014620-2014620

 skinmalignant_melanomaSubstitution - Missense

c.689A>G; p.Q230R; 7:2216277-2216277

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.2148C>T; p.T716T; 7:1816079-1816079

 large_intestine; rectumNSSubstitution - coding silent

c.1583G>A; p.R528Q; 7:1957642-1957642

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1820A>G; p.Q607R; 7:1898378-1898378

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.259_260AG>TA; p.R87*; 7:2225441-2225442

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.807G>T; p.L269L; 7:2216159-2216159

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.307A>G; p.N103D; 7:2222739-2222739

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2013G>A; p.S671S; 7:1816214-1816214

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.2013G>A; p.S671S; 7:1816214-1816214

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1509G>T; p.L503F; 7:1957716-1957716

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2085delG; p.R696fs*>23; 7:1816142-1816142

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1934C>T; p.T645M; 7:1898264-1898264

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.47C>T; p.S16F; 7:2230087-2230087

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.951G>A; p.W317*; 7:2213247-2213247

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.104C>T; p.T35I; 7:2230030-2230030

 skinmalignant_melanomaSubstitution - Missense

c.1166C>T; p.T389I; 7:2069246-2069246

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.951G>A; p.W317*; 7:2213247-2213247

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.687G>A; p.E229E; 7:2216279-2216279

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1251C>A; p.S417S; 7:2014610-2014610

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1159C>T; p.R387C; 7:2069253-2069253

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1979G>T; p.G660V; 7:1898219-1898219

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.897G>A; p.T299T; 7:2215912-2215912

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1434G>T; p.K478N; 7:1980524-1980524

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.20delA; p.N7fs*8; 7:2230114-2230114

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.904G>T; p.G302C; 7:2215905-2215905

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.366G>A; p.E122E; 7:2222680-2222680

 skinmalignant_melanomaSubstitution - coding silent

c.1075G>A; p.A359T; 7:2069337-2069337

 prostatecarcinomaSubstitution - Missense

c.1181C>T; p.A394V; 7:2069231-2069231

 skinmalignant_melanomaSubstitution - Missense

c.1315G>A; p.E439K; 7:2014546-2014546

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1011delC; p.F337fs*12; 7:2149214-2149214

 prostatecarcinomaDeletion - Frameshift

c.318C>T; p.L106L; 7:2222728-2222728

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1853T>G; p.L618R; 7:1898345-1898345

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.772G>T; p.E258*; 7:2216194-2216194

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1074C>T; p.S358S; 7:2069338-2069338

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.805C>T; p.L269L; 7:2216161-2216161

 skinmalignant_melanomaSubstitution - coding silent

c.1170C>T; p.H390H; 7:2069242-2069242

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.692A>G; p.K231R; 7:2216274-2216274

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecifiedSubstitution - Missense

c.2141G>A; p.R714H; 7:1816086-1816086

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1668C>T; p.R556R; 7:1936826-1936826

 skinmalignant_melanomaSubstitution - coding silent

c.1773C>T; p.A591A; 7:1936721-1936721

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.175C>G; p.R59G; 7:2225526-2225526

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2086C>T; p.R696C; 7:1816141-1816141

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1911C>T; p.T637T; 7:1898287-1898287

 autonomic_ganglianeuroblastomaSubstitution - coding silent

c.1078C>T; p.R360W; 7:2069334-2069334

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1078C>T; p.R360W; 7:2069334-2069334

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1986C>T; p.C662C; 7:1898212-1898212

 livercarcinomaSubstitution - coding silent

c.1986C>T; p.C662C; 7:1898212-1898212

 livercarcinomaSubstitution - coding silent

c.1986C>T; p.C662C; 7:1898212-1898212

 livercarcinomaSubstitution - coding silent

c.523G>T; p.D175Y; 7:2219405-2219405

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2012C>T; p.S671L; 7:1816215-1816215

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2012C>T; p.S671L; 7:1816215-1816215

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2123C>T; p.T708I; 7:1816104-1816104

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.265G>T; p.A89S; 7:2225436-2225436

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1839G>T; p.L613L; 7:1898359-1898359

 livercarcinomaSubstitution - coding silent

c.1839G>T; p.L613L; 7:1898359-1898359

 livercarcinomaSubstitution - coding silent

c.1594C>G; p.Q532E; 7:1957631-1957631

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1889G>A; p.R630H; 7:1898309-1898309

 lungcarcinoma; adenocarcinomaSubstitution - Missense

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