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

Basic Information

Gene ID

11095

Name

ADAMTS8

Synonymous

ADAM metallopeptidase with thrombospondin type 1 motif, 8;ADAMTS8;ADAM metallopeptidase with thrombospondin type 1 motif, 8

Definition

A disintegrin and metalloproteinase with thrombospondin motifs 8|ADAM-TS 8|ADAMTS-8|METH-2|METH-8|a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8

Position

11q25

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 0.12.

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.1370G>T; p.G457V; 11:130414727-130414727

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1417G>A; p.A473T; 11:130414680-130414680

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2393T>A; p.F798Y; 11:130405835-130405835

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1745delC; p.P582fs*61; 11:130411422-130411422

 lungcarcinoma; small_cell_carcinomaDeletion - Frameshift

c.1516C>A; p.L506I; 11:130414581-130414581

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2220G>A; p.G740G; 11:130406008-130406008

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2386G>A; p.E796K; 11:130405842-130405842

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1618C>T; p.R540W; 11:130411549-130411549

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1227C>T; p.S409S; 11:130416200-130416200

 breastcarcinomaSubstitution - coding silent

c.2419T>C; p.F807L; 11:130405809-130405809

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.2419T>C; p.F807L; 11:130405809-130405809

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2418C>T; p.F806F; 11:130405810-130405810

 skinmalignant_melanomaSubstitution - coding silent

c.1965C>T; p.I655I; 11:130408598-130408598

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1486G>A; p.A496T; 11:130414611-130414611

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2590G>A; p.G864S; 11:130405638-130405638

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1176G>A; p.M392I; 11:130416251-130416251

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1806C>A; p.D602E; 11:130408885-130408885

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1570G>A; p.V524M; 11:130411597-130411597

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1570G>A; p.V524M; 11:130411597-130411597

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1570G>A; p.V524M; 11:130411597-130411597

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1570G>A; p.V524M; 11:130411597-130411597

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.836G>T; p.G279V; 11:130419177-130419177

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.2038G>A; p.G680R; 11:130408525-130408525

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1953A>C; p.E651D; 11:130408610-130408610

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1096G>C; p.G366R; 11:130416940-130416940

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1537C>G; p.L513V; 11:130414560-130414560

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.2292G>A; p.L764L; 11:130405936-130405936

 skinmalignant_melanomaSubstitution - coding silent

c.935A>G; p.D312G; 11:130419078-130419078

 breastcarcinomaSubstitution - Missense

c.695C>A; p.A232D; 11:130427592-130427592

 livercarcinomaSubstitution - Missense

c.882C>T; p.C294C; 11:130419131-130419131

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.2185G>A; p.D729N; 11:130406043-130406043

 skinmalignant_melanomaSubstitution - Missense

c.603G>A; p.P201P; 11:130427684-130427684

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2471C>A; p.T824N; 11:130405757-130405757

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1992C>A; p.A664A; 11:130408571-130408571

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1915G>A; p.E639K; 11:130408776-130408776

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1150G>A; p.G384R; 11:130416277-130416277

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1149C>T; p.F383F; 11:130416278-130416278

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.624G>A; p.T208T; 11:130427663-130427663

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1006G>A; p.D336N; 11:130417030-130417030

 skinmalignant_melanomaSubstitution - Missense

c.780G>A; p.K260K; 11:130419233-130419233

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1569C>T; p.P523P; 11:130411598-130411598

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2457C>A; p.S819R; 11:130405771-130405771

 skinmalignant_melanomaSubstitution - Missense

c.1745_1746insC; p.D583fs*1; 11:130411421-130411422

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1170C>T; p.H390H; 11:130416257-130416257

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2374A>G; p.T792A; 11:130405854-130405854

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1702C>T; p.R568W; 11:130411465-130411465

 skinmalignant_melanomaSubstitution - Missense

c.2037C>T; p.C679C; 11:130408526-130408526

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2481C>T; p.I827I; 11:130405747-130405747

 skinmalignant_melanomaSubstitution - coding silent

c.1883G>A; p.R628Q; 11:130408808-130408808

 livercarcinomaSubstitution - Missense

c.2128C>T; p.P710S; 11:130406100-130406100

 skinmalignant_melanomaSubstitution - Missense

c.2020C>T; p.R674W; 11:130408543-130408543

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1770G>C; p.Q590H; 11:130408921-130408921

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.951C>A; p.L317L; 11:130419062-130419062

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1749C>T; p.D583D; 11:130411418-130411418

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1878C>T; p.F626F; 11:130408813-130408813

 ovaryother; neoplasmSubstitution - coding silent

c.1572G>A; p.V524V; 11:130411595-130411595

 skinmalignant_melanomaSubstitution - coding silent

c.2380C>T; p.P794S; 11:130405848-130405848

 skinmalignant_melanomaSubstitution - Missense

c.892C>T; p.R298W; 11:130419121-130419121

 prostatecarcinomaSubstitution - Missense

c.2165G>A; p.S722N; 11:130406063-130406063

 thyroidcarcinomaSubstitution - Missense

c.1890G>A; p.R630R; 11:130408801-130408801

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.464C>T; p.P155L; 11:130427823-130427823

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2090C>T; p.T697I; 11:130408473-130408473

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1512G>A; p.G504G; 11:130414585-130414585

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2213C>A; p.A738D; 11:130406015-130406015

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2213C>A; p.A738D; 11:130406015-130406015

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1062G>A; p.G354G; 11:130416974-130416974

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2213C>A; p.A738D; 11:130406015-130406015

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2665C>T; p.L889L; 11:130405563-130405563

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.2068A>G; p.R690G; 11:130408495-130408495

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1090G>A; p.E364K; 11:130416946-130416946

 skinmalignant_melanomaSubstitution - Missense

c.87C>T; p.A29A; 11:130428200-130428200

 thyroidother; neoplasmSubstitution - coding silent

c.934G>A; p.D312N; 11:130419079-130419079

 skinmalignant_melanomaSubstitution - Missense

c.849C>T; p.S283S; 11:130419164-130419164

 stomachadenocarcinomaSubstitution - coding silent

c.1898G>A; p.S633N; 11:130408793-130408793

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.934G>A; p.D312N; 11:130419079-130419079

 skinmalignant_melanomaSubstitution - Missense

c.2418C>A; p.F806L; 11:130405810-130405810

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2651G>A; p.S884N; 11:130405577-130405577

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1955C>T; p.T652I; 11:130408608-130408608

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.2589C>T; p.S863S; 11:130405639-130405639

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.2589C>T; p.S863S; 11:130405639-130405639

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.1881C>T; p.C627C; 11:130408810-130408810

 skinmalignant_melanomaSubstitution - coding silent

c.1097-3C>T; p.?; 11:130416333-130416333

 livercarcinomaUnknown

c.1476_1478delCCT; p.S492_L493>R; 11:130414619-130414621

 central_nervous_system; brainglioma; astrocytoma_Grade_IVComplex - deletion inframe

c.1989G>T; p.K663N; 11:130408574-130408574

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1264G>A; p.G422R; 11:130416163-130416163

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.619delG; p.A207fs*38; 11:130427668-130427668

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2564G>A; p.R855Q; 11:130405664-130405664

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.803T>A; p.V268E; 11:130419210-130419210

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2526T>C; p.S842S; 11:130405702-130405702

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.816C>T; p.I272I; 11:130419197-130419197

 skinmalignant_melanomaSubstitution - coding silent

c.1993G>A; p.G665S; 11:130408570-130408570

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2334C>T; p.S778S; 11:130405894-130405894

 skinmalignant_melanomaSubstitution - coding silent

c.1897A>G; p.S633G; 11:130408794-130408794

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1993G>A; p.G665S; 11:130408570-130408570

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.816C>T; p.I272I; 11:130419197-130419197

 skinmalignant_melanomaSubstitution - coding silent

c.1375G>T; p.D459Y; 11:130414722-130414722

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2656C>T; p.L886L; 11:130405572-130405572

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2093C>T; p.P698L; 11:130408470-130408470

 skinmalignant_melanomaSubstitution - Missense

c.2545G>A; p.G849R; 11:130405683-130405683

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.62_64delTGC; p.L21delL; 11:130428223-130428225

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - In frame

c.2544C>T; p.C848C; 11:130405684-130405684

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.225A>G; p.L75L; 11:130428062-130428062

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.481delC; p.L161fs*84; 11:130427806-130427806

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.225A>G; p.L75L; 11:130428062-130428062

 thyroidother; neoplasmSubstitution - coding silent

c.225A>G; p.L75L; 11:130428062-130428062

 thyroidother; neoplasmSubstitution - coding silent

c.1561C>T; p.P521S; 11:130414536-130414536

 skinmalignant_melanomaSubstitution - Missense

c.1900G>A; p.E634K; 11:130408791-130408791

 pancreascarcinomaSubstitution - Missense

c.469G>A; p.G157R; 11:130427818-130427818

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1188C>T; p.F396F; 11:130416239-130416239

 skinmalignant_melanomaSubstitution - coding silent

c.2128C>A; p.P710T; 11:130406100-130406100

 breastcarcinomaSubstitution - Missense

c.841G>C; p.E281Q; 11:130419172-130419172

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.486G>A; p.P162P; 11:130427801-130427801

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1751-1G>A; p.?; 11:130408941-130408941

 skinmalignant_melanomaUnknown

c.1382G>A; p.R461H; 11:130414715-130414715

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1858delC; p.R620fs*23; 11:130408833-130408833

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1524A>T; p.S508S; 11:130414573-130414573

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.1289C>A; p.A430D; 11:130414808-130414808

 skin; kneemalignant_melanomaSubstitution - Missense

c.1832T>C; p.V611A; 11:130408859-130408859

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2064C>T; p.S688S; 11:130408499-130408499

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1085C>T; p.A362V; 11:130416951-130416951

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.861G>T; p.G287G; 11:130419152-130419152

 thyroidcarcinomaSubstitution - coding silent

c.1858C>T; p.R620W; 11:130408833-130408833

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1116C>T; p.P372P; 11:130416311-130416311

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1063C>T; p.L355F; 11:130416973-130416973

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.403A>G; p.I135V; 11:130427884-130427884

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2566A>T; p.T856S; 11:130405662-130405662

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1574C>T; p.A525V; 11:130411593-130411593

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.559G>A; p.E187K; 11:130427728-130427728

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1747G>A; p.D583N; 11:130411420-130411420

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.913G>A; p.D305N; 11:130419100-130419100

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.234G>C; p.E78D; 11:130428053-130428053

 thyroidother; neoplasmSubstitution - Missense

c.1923_1923+1GG>AA; p.?; 11:130408767-130408768

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.1188C>A; p.F396L; 11:130416239-130416239

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1631G>C; p.G544A; 11:130411536-130411536

 breastcarcinomaSubstitution - Missense

c.581A>G; p.E194G; 11:130427706-130427706

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1144C>T; p.L382F; 11:130416283-130416283

 skinmalignant_melanomaSubstitution - Missense

c.1487C>A; p.A496D; 11:130414610-130414610

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1071G>A; p.A357A; 11:130416965-130416965

 skinmalignant_melanomaSubstitution - coding silent

c.790A>G; p.N264D; 11:130419223-130419223

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1972C>T; p.R658C; 11:130408591-130408591

 skin; axillamalignant_melanomaSubstitution - Missense

c.1480C>A; p.P494T; 11:130414617-130414617

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.1480C>A; p.P494T; 11:130414617-130414617

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.951C>T; p.L317L; 11:130419062-130419062

 skinmalignant_melanomaSubstitution - coding silent

c.484C>T; p.P162S; 11:130427803-130427803

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1011C>T; p.I337I; 11:130417025-130417025

 thyroidcarcinomaSubstitution - coding silent

c.1477C>A; p.L493M; 11:130414620-130414620

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1814G>A; p.G605E; 11:130408877-130408877

 skinmalignant_melanomaSubstitution - Missense

c.841G>T; p.E281*; 11:130419172-130419172

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1830_1831GG>AA; p.W610_V611>*; 11:130408860-130408861

 skin; head_neckcarcinoma; squamous_cell_carcinomaComplex - deletion inframe

c.1914C>T; p.F638F; 11:130408777-130408777

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2550C>T; p.A850A; 11:130405678-130405678

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1914C>T; p.F638F; 11:130408777-130408777

 skinmalignant_melanomaSubstitution - coding silent

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