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

Basic Information

Gene ID

117153

Name

MIA2

Synonymous

melanoma inhibitory activity 2;MIA2;melanoma inhibitory activity 2

Definition

melanoma inhibitory activity protein 2

Position

14q13.2

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 0.17.

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.209T>G; p.V70G; 14:39237015-39237015

 skinmalignant_melanomaSubstitution - Missense

c.85C>T; p.L29F; 14:39234199-39234199

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.558T>C; p.D186D; 14:39247132-39247132

 stomachadenocarcinomaSubstitution - coding silent

c.798A>T; p.E266D; 14:39247372-39247372

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.865A>C; p.K289Q; 14:39247439-39247439

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1348G>A; p.E450K; 14:39247922-39247922

 skin; trunkmalignant_melanomaSubstitution - Missense

c.1348G>A; p.E450K; 14:39247922-39247922

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1862C>T; p.S621L; 14:39253146-39253146

 skinmalignant_melanomaSubstitution - Missense

c.610A>G; p.M204V; 14:39247184-39247184

 thyroidcarcinomaSubstitution - Missense

c.6A>G; p.A2A; 14:39234120-39234120

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.6A>G; p.A2A; 14:39234120-39234120

 kidneyother; neoplasmSubstitution - coding silent

c.937G>T; p.G313*; 14:39247511-39247511

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1435T>G; p.L479V; 14:39248009-39248009

 pancreascarcinomaSubstitution - Missense

c.1747G>A; p.D583N; 14:39252927-39252927

 skinmalignant_melanomaSubstitution - Missense

c.1840G>A; p.D614N; 14:39253124-39253124

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.754C>T; p.R252W; 14:39247328-39247328

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.754C>T; p.R252W; 14:39247328-39247328

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.754C>T; p.R252W; 14:39247328-39247328

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.754C>T; p.R252W; 14:39247328-39247328

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.455C>A; p.S152Y; 14:39247029-39247029

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.588G>T; p.W196C; 14:39247162-39247162

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1849A>G; p.N617D; 14:39253133-39253133

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1917A>C; p.I639I; 14:39253201-39253201

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1418T>G; p.I473S; 14:39247992-39247992

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1598G>A; p.R533K; 14:39252778-39252778

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1606G>A; p.E536K; 14:39252786-39252786

 skinmalignant_melanomaSubstitution - Missense

c.1606G>A; p.E536K; 14:39252786-39252786

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1606G>A; p.E536K; 14:39252786-39252786

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1606G>A; p.E536K; 14:39252786-39252786

 skinmalignant_melanomaSubstitution - Missense

c.1432G>A; p.E478K; 14:39248006-39248006

 pancreascarcinomaSubstitution - Missense

c.1462C>G; p.Q488E; 14:39248036-39248036

 breastcarcinomaSubstitution - Missense

c.28_30delCTT; p.L12delL; 14:39234142-39234144

 central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - In frame

c.259G>A; p.E87K; 14:39240570-39240570

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1675G>A; p.E559K; 14:39252855-39252855

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1675G>A; p.E559K; 14:39252855-39252855

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1675G>A; p.E559K; 14:39252855-39252855

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1336_1337insA; p.T448fs*5; 14:39247910-39247911

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.1675G>A; p.E559K; 14:39252855-39252855

 breastcarcinomaSubstitution - Missense

c.1287G>A; p.T429T; 14:39247861-39247861

 skinmalignant_melanomaSubstitution - coding silent

c.1336_1337insA; p.T448fs*5; 14:39247910-39247911

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.1287G>A; p.T429T; 14:39247861-39247861

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1851T>A; p.N617K; 14:39253135-39253135

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1675G>A; p.E559K; 14:39252855-39252855

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.1764T>C; p.S588S; 14:39252944-39252944

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.970G>A; p.D324N; 14:39247544-39247544

 skinmalignant_melanomaSubstitution - Missense

c.937G>A; p.G313R; 14:39247511-39247511

 skinmalignant_melanomaSubstitution - Missense

c.152G>C; p.R51T; 14:39236958-39236958

 skinmalignant_melanomaSubstitution - Missense

c.788A>G; p.D263G; 14:39247362-39247362

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.446A>T; p.D149V; 14:39247020-39247020

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1639G>T; p.D547Y; 14:39252819-39252819

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.452A>C; p.K151T; 14:39247026-39247026

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.332C>T; p.T111M; 14:39240643-39240643

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1082delA; p.D364fs*8; 14:39247656-39247656

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1082delA; p.D364fs*8; 14:39247656-39247656

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1082delA; p.D364fs*8; 14:39247656-39247656

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1082delA; p.D364fs*8; 14:39247656-39247656

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1082delA; p.D364fs*8; 14:39247656-39247656

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1567G>C; p.D523H; 14:39248141-39248141

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.182C>T; p.T61I; 14:39236988-39236988

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.835G>T; p.E279*; 14:39247409-39247409

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.835G>T; p.E279*; 14:39247409-39247409

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1655C>T; p.S552L; 14:39252835-39252835

 skinmalignant_melanomaSubstitution - Missense

c.1831G>T; p.D611Y; 14:39253115-39253115

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.562G>A; p.G188R; 14:39247136-39247136

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.359_364delTTGGAG; p.G121_V122delGV; 14:39246933-39246938

 livercarcinomaDeletion - In frame

c.1376A>C; p.K459T; 14:39247950-39247950

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1444C>A; p.P482T; 14:39248018-39248018

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.994G>A; p.E332K; 14:39247568-39247568

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.867G>T; p.K289N; 14:39247441-39247441

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.926G>A; p.W309*; 14:39247500-39247500

 skinmalignant_melanomaSubstitution - Nonsense

c.904C>T; p.P302S; 14:39247478-39247478

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.233A>C; p.D78A; 14:39237039-39237039

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.455C>T; p.S152F; 14:39247029-39247029

 skinmalignant_melanomaSubstitution - Missense

c.606A>C; p.E202D; 14:39247180-39247180

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.63G>A; p.E21E; 14:39234177-39234177

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1656G>A; p.S552S; 14:39252836-39252836

 skinmalignant_melanomaSubstitution - coding silent

c.915A>G; p.Q305Q; 14:39247489-39247489

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1656G>A; p.S552S; 14:39252836-39252836

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1656G>A; p.S552S; 14:39252836-39252836

 central_nervous_system; braingliomaSubstitution - coding silent

c.1081G>A; p.E361K; 14:39247655-39247655

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1310A>G; p.D437G; 14:39247884-39247884

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1310A>G; p.D437G; 14:39247884-39247884

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.167G>A; p.R56Q; 14:39236973-39236973

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.563G>A; p.G188E; 14:39247137-39247137

 skinmalignant_melanomaSubstitution - Missense

c.478C>T; p.Q160*; 14:39247052-39247052

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.221G>A; p.G74E; 14:39237027-39237027

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1587G>T; p.E529D; 14:39252767-39252767

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1763C>T; p.S588F; 14:39252943-39252943

 breastcarcinomaSubstitution - Missense

c.1040C>G; p.S347C; 14:39247614-39247614

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.188G>A; p.G63E; 14:39236994-39236994

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.857C>T; p.S286L; 14:39247431-39247431

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.115+2T>C; p.?; 14:39234231-39234231

 kidneycarcinoma; clear_cell_renal_cell_carcinomaUnknown

c.479A>G; p.Q160R; 14:39247053-39247053

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.622C>T; p.R208C; 14:39247196-39247196

 prostatecarcinomaSubstitution - Missense

c.622C>T; p.R208C; 14:39247196-39247196

 NSmalignant_melanomaSubstitution - Missense

c.622C>T; p.R208C; 14:39247196-39247196

 skinmalignant_melanomaSubstitution - Missense

c.1432G>T; p.E478*; 14:39248006-39248006

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1595C>T; p.T532M; 14:39252775-39252775

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1952C>A; p.T651K; 14:39253236-39253236

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1276G>T; p.E426*; 14:39247850-39247850

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1664C>G; p.S555*; 14:39252844-39252844

 livercarcinomaSubstitution - Nonsense

c.850A>T; p.I284F; 14:39247424-39247424

 prostatecarcinomaSubstitution - Missense

c.863C>A; p.P288Q; 14:39247437-39247437

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.274C>T; p.P92S; 14:39240585-39240585

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.875C>T; p.S292F; 14:39247449-39247449

 skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.771A>T; p.A257A; 14:39247345-39247345

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.834A>C; p.Q278H; 14:39247408-39247408

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.938G>A; p.G313E; 14:39247512-39247512

 skinmalignant_melanomaSubstitution - Missense

c.40A>G; p.I14V; 14:39234154-39234154

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1309G>C; p.D437H; 14:39247883-39247883

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.796G>A; p.E266K; 14:39247370-39247370

 skinmalignant_melanomaSubstitution - Missense

c.1865_1866CA>TT; p.P622L; 14:39253149-39253150

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1778C>T; p.S593F; 14:39252958-39252958

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1529C>G; p.T510R; 14:39248103-39248103

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1374A>C; p.K458N; 14:39247948-39247948

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1413G>A; p.Q471Q; 14:39247987-39247987

 skinmalignant_melanomaSubstitution - coding silent

c.1897C>T; p.P633S; 14:39253181-39253181

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1897C>T; p.P633S; 14:39253181-39253181

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1296T>C; p.I432I; 14:39247870-39247870

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.115G>T; p.A39S; 14:39234229-39234229

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.478C>A; p.Q160K; 14:39247052-39247052

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1787-2A>T; p.?; 14:39253069-39253069

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.1470T>C; p.N490N; 14:39248044-39248044

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.959T>C; p.F320S; 14:39247533-39247533

 salivary_gland; maxillacarcinoma; adenoid_cystic_carcinomaSubstitution - Missense

c.583G>A; p.D195N; 14:39247157-39247157

 skinmalignant_melanomaSubstitution - Missense

c.817C>G; p.Q273E; 14:39247391-39247391

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1577C>G; p.S526C; 14:39252757-39252757

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.403delG; p.G135fs*27; 14:39246977-39246977

 lungcarcinoma; adenocarcinomaDeletion - Frameshift

c.969G>T; p.E323D; 14:39247543-39247543

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1699G>A; p.D567N; 14:39252879-39252879

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1699G>A; p.D567N; 14:39252879-39252879

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.722C>T; p.S241L; 14:39247296-39247296

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.106G>A; p.E36K; 14:39234220-39234220

 skinmalignant_melanomaSubstitution - Missense

c.556G>T; p.D186Y; 14:39247130-39247130

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1410C>T; p.F470F; 14:39247984-39247984

 skinmalignant_melanomaSubstitution - coding silent

c.1410C>T; p.F470F; 14:39247984-39247984

 skinmalignant_melanomaSubstitution - coding silent

c.217G>T; p.A73S; 14:39237023-39237023

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.428C>T; p.P143L; 14:39247002-39247002

 skinmalignant_melanomaSubstitution - Missense

c.428C>T; p.P143L; 14:39247002-39247002

 skinmalignant_melanomaSubstitution - Missense

c.1922T>A; p.L641*; 14:39253206-39253206

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1673C>T; p.T558I; 14:39252853-39252853

 skinmalignant_melanomaSubstitution - Missense

c.1090G>T; p.D364Y; 14:39247664-39247664

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.210T>C; p.V70V; 14:39237016-39237016

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - coding silent

c.328T>C; p.S110P; 14:39240639-39240639

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1258G>T; p.D420Y; 14:39247832-39247832

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.795G>A; p.E265E; 14:39247369-39247369

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1399C>T; p.P467S; 14:39247973-39247973

 skinmalignant_melanomaSubstitution - Missense

c.1262C>A; p.P421H; 14:39247836-39247836

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1219G>T; p.G407W; 14:39247793-39247793

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.651T>C; p.S217S; 14:39247225-39247225

 skinmalignant_melanomaSubstitution - coding silent

c.1659A>G; p.K553K; 14:39252839-39252839

 skinmalignant_melanomaSubstitution - coding silent

c.1845C>T; p.F615F; 14:39253129-39253129

 skinmalignant_melanomaSubstitution - coding silent

c.195G>T; p.E65D; 14:39237001-39237001

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1228G>T; p.E410*; 14:39247802-39247802

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1081_1082insA; p.D364fs*5; 14:39247655-39247656

 large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

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