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

Basic Information

Gene ID

6041

Name

RNASEL

Synonymous

ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent);RNASEL;ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)

Definition

2',5'-oligoisoadenylate synthetase-dependent|2-5A-dependent RNase|2-5A-dependent ribonuclease|RNase L|interferon-induced 2-5A-dependent RNase|ribonuclease 4

Position

1q25

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.1872A>T; p.E624D; 1:182581258-182581258

 thyroidother; neoplasmSubstitution - Missense

c.2190T>C; p.A730A; 1:182575428-182575428

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1019G>A; p.S340N; 1:182585788-182585788

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.265A>G; p.K89E; 1:182586542-182586542

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.1524C>A; p.I508I; 1:182584123-182584123

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.123C>T; p.V41V; 1:182586684-182586684

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1842C>T; p.I614I; 1:182581288-182581288

 skinmalignant_melanomaSubstitution - coding silent

c.827C>A; p.A276E; 1:182585980-182585980

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1955G>C; p.G652A; 1:182576340-182576340

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1978G>T; p.G660C; 1:182576317-182576317

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1654C>T; p.Q552*; 1:182582171-182582171

 breastcarcinomaSubstitution - Nonsense

c.887G>T; p.G296V; 1:182585920-182585920

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.11G>T; p.R4M; 1:182586796-182586796

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1479A>C; p.I493I; 1:182585328-182585328

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1874A>T; p.H625L; 1:182581256-182581256

 thyroidother; neoplasmSubstitution - Missense

c.133C>A; p.L45M; 1:182586674-182586674

 thyroidcarcinoma; anaplastic_carcinomaSubstitution - Missense

c.16C>G; p.H6D; 1:182586791-182586791

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1520G>A; p.S507N; 1:182584127-182584127

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.354C>T; p.V118V; 1:182586453-182586453

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.26C>T; p.P9L; 1:182586781-182586781

 skinmalignant_melanomaSubstitution - Missense

c.928C>T; p.R310W; 1:182585879-182585879

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1385G>A; p.R462Q; 1:182585422-182585422

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.928C>T; p.R310W; 1:182585879-182585879

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1385G>A; p.R462Q; 1:182585422-182585422

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.2201G>T; p.S734I; 1:182575417-182575417

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1198C>A; p.R400S; 1:182585609-182585609

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1388delA; p.N463fs*30; 1:182585419-182585419

 ovarycarcinoma; mucinous_carcinomaDeletion - Frameshift

c.1388delA; p.N463fs*30; 1:182585419-182585419

 ovarycarcinoma; mucinous_carcinomaDeletion - Frameshift

c.1545G>T; p.Q515H; 1:182584102-182584102

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1335G>T; p.L445F; 1:182585472-182585472

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.282G>A; p.T94T; 1:182586525-182586525

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.282G>A; p.T94T; 1:182586525-182586525

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.945C>T; p.S315S; 1:182585862-182585862

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.670C>T; p.L224L; 1:182586137-182586137

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1809C>T; p.S603S; 1:182581321-182581321

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.589G>A; p.A197T; 1:182586218-182586218

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2148C>T; p.F716F; 1:182575470-182575470

 skinmalignant_melanomaSubstitution - coding silent

c.2148C>T; p.F716F; 1:182575470-182575470

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2148C>T; p.F716F; 1:182575470-182575470

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1785G>A; p.T595T; 1:182581345-182581345

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2148C>T; p.F716F; 1:182575470-182575470

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.464G>A; p.R155Q; 1:182586343-182586343

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1924A>G; p.K642E; 1:182576371-182576371

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1804G>C; p.E602Q; 1:182581326-182581326

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.502G>T; p.G168W; 1:182586305-182586305

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1358T>C; p.V453A; 1:182585449-182585449

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2060A>G; p.D687G; 1:182575558-182575558

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2059G>A; p.D687N; 1:182575559-182575559

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2060A>G; p.D687G; 1:182575558-182575558

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2060A>G; p.D687G; 1:182575558-182575558

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1686C>A; p.L562L; 1:182582139-182582139

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.327A>C; p.K109N; 1:182586480-182586480

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1923G>A; p.M641I; 1:182576372-182576372

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1578G>A; p.R526R; 1:182582247-182582247

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.844G>T; p.E282*; 1:182585963-182585963

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1578G>A; p.R526R; 1:182582247-182582247

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.295G>A; p.A99T; 1:182586512-182586512

 biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - Missense

c.1397C>T; p.S466L; 1:182585410-182585410

 breastcarcinomaSubstitution - Missense

c.295G>A; p.A99T; 1:182586512-182586512

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.998C>A; p.A333D; 1:182585809-182585809

 breastcarcinomaSubstitution - Missense

c.383C>T; p.A128V; 1:182586424-182586424

 skinmalignant_melanomaSubstitution - Missense

c.1776C>T; p.R592R; 1:182581354-182581354

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.196G>A; p.A66T; 1:182586611-182586611

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1930_1931insA; p.M644fs*3; 1:182576364-182576365

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.901T>C; p.C301R; 1:182585906-182585906

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1616T>C; p.F539S; 1:182582209-182582209

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.429C>T; p.F143F; 1:182586378-182586378

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1750C>T; p.P584S; 1:182582075-182582075

 skinmalignant_melanomaSubstitution - Missense

c.2027A>G; p.E676G; 1:182576268-182576268

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2027A>G; p.E676G; 1:182576268-182576268

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1823G>A; p.R608Q; 1:182581307-182581307

 pituitary; craniopharyngeal_ductcraniopharyngioma; adamantinomatousSubstitution - Missense

c.1518G>C; p.K506N; 1:182584129-182584129

 oesophaguscarcinomaSubstitution - Missense

c.1393C>T; p.L465L; 1:182585414-182585414

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1693C>T; p.R565C; 1:182582132-182582132

 skinmalignant_melanomaSubstitution - Missense

c.664A>T; p.T222S; 1:182586143-182586143

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.719A>C; p.K240T; 1:182586088-182586088

 skinmalignant_melanomaSubstitution - Missense

c.1854G>A; p.L618L; 1:182581276-182581276

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.195C>T; p.N65N; 1:182586612-182586612

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.1281G>T; p.R427S; 1:182585526-182585526

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1951_1952insA; p.R651fs*11; 1:182576343-182576344

 large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.1951_1952insA; p.R651fs*11; 1:182576343-182576344

 large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.1845C>T; p.L615L; 1:182581285-182581285

 skinmalignant_melanomaSubstitution - coding silent

c.233T>C; p.L78P; 1:182586574-182586574

 stomachcarcinomaSubstitution - Missense

c.2204G>A; p.G735E; 1:182575414-182575414

 skinmalignant_melanomaSubstitution - Missense

c.1787T>G; p.L596R; 1:182581343-182581343

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1937A>C; p.K646T; 1:182576358-182576358

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.561C>T; p.L187L; 1:182586246-182586246

 skinmalignant_melanomaSubstitution - coding silent

c.52G>A; p.G18S; 1:182586755-182586755

 skinmalignant_melanomaSubstitution - Missense

c.312C>T; p.S104S; 1:182586495-182586495

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.408T>C; p.G136G; 1:182586399-182586399

 skinmalignant_melanomaSubstitution - coding silent

c.312C>T; p.S104S; 1:182586495-182586495

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.956T>C; p.V319A; 1:182585851-182585851

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2203G>T; p.G735W; 1:182575415-182575415

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1906-2_1906-1insT; p.?; 1:182576390-182576391

 stomachadenocarcinomaUnknown

c.176G>A; p.G59D; 1:182586631-182586631

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1869T>C; p.S623S; 1:182581261-182581261

 thyroidother; neoplasmSubstitution - coding silent

c.1502T>C; p.L501P; 1:182584145-182584145

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1033delG; p.A345fs*3; 1:182585774-182585774

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1235G>A; p.R412Q; 1:182585572-182585572

 central_nervous_system; braingliomaSubstitution - Missense

c.652G>A; p.V218M; 1:182586155-182586155

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1443C>T; p.Y481Y; 1:182585364-182585364

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1626G>T; p.L542L; 1:182582199-182582199

 skinmalignant_melanomaSubstitution - coding silent

c.698A>G; p.N233S; 1:182586109-182586109

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1912G>T; p.E638*; 1:182576383-182576383

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1146delG; p.F383fs*7; 1:182585661-182585661

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.463C>T; p.R155*; 1:182586344-182586344

 skinmalignant_melanomaSubstitution - Nonsense

c.864C>T; p.I288I; 1:182585943-182585943

 skinmalignant_melanomaSubstitution - coding silent

c.864C>T; p.I288I; 1:182585943-182585943

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.808G>T; p.D270Y; 1:182585999-182585999

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1312G>T; p.E438*; 1:182585495-182585495

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.333C>T; p.F111F; 1:182586474-182586474

 skinmalignant_melanomaSubstitution - coding silent

c.523G>A; p.A175T; 1:182586284-182586284

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1287C>G; p.H429Q; 1:182585520-182585520

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1017G>C; p.Q339H; 1:182585790-182585790

 pancreascarcinomaSubstitution - Missense

c.1453G>T; p.D485Y; 1:182585354-182585354

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1539T>A; p.D513E; 1:182584108-182584108

 livercarcinomaSubstitution - Missense

c.1539T>A; p.D513E; 1:182584108-182584108

 livercarcinomaSubstitution - Missense

c.369T>G; p.F123L; 1:182586438-182586438

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1794T>C; p.N598N; 1:182581336-182581336

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.588C>T; p.N196N; 1:182586219-182586219

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - coding silent

c.1908T>G; p.I636M; 1:182576387-182576387

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2063C>A; p.P688H; 1:182575555-182575555

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1304C>A; p.T435N; 1:182585503-182585503

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.826G>T; p.A276S; 1:182585981-182585981

 livercarcinomaSubstitution - Missense

c.826G>T; p.A276S; 1:182585981-182585981

 livercarcinomaSubstitution - Missense

c.2225G>A; p.*742*; 1:182575393-182575393

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.157T>C; p.F53L; 1:182586650-182586650

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.98T>C; p.V33A; 1:182586709-182586709

 skinmalignant_melanomaSubstitution - Missense

c.1288T>C; p.L430L; 1:182585519-182585519

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.115G>C; p.D39H; 1:182586692-182586692

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1556G>A; p.R519K; 1:182584091-182584091

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1651G>A; p.V551I; 1:182582174-182582174

 skinmalignant_melanomaSubstitution - Missense

c.1928A>T; p.K643I; 1:182576367-182576367

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.1906-3_1906-2insT; p.?; 1:182576391-182576392

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.1906-3_1906-2insT; p.?; 1:182576391-182576392

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.1906-3_1906-2insT; p.?; 1:182576391-182576392

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.1404A>T; p.I468I; 1:182585403-182585403

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.506C>A; p.A169D; 1:182586301-182586301

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaSubstitution - Missense

c.1225C>T; p.Q409*; 1:182585582-182585582

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.300G>A; p.A100A; 1:182586507-182586507

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1193G>T; p.S398I; 1:182585614-182585614

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.313G>A; p.V105M; 1:182586494-182586494

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.1701C>T; p.F567F; 1:182582124-182582124

 skinmalignant_melanomaSubstitution - coding silent

c.1380T>A; p.F460L; 1:182585427-182585427

 skinmalignant_melanomaSubstitution - Missense

c.1626G>C; p.L542L; 1:182582199-182582199

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1199G>A; p.R400H; 1:182585608-182585608

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.991C>T; p.P331S; 1:182585816-182585816

 skinmalignant_melanomaSubstitution - Missense

c.1742T>C; p.L581P; 1:182582083-182582083

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1584C>T; p.V528V; 1:182582241-182582241

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.305C>T; p.A102V; 1:182586502-182586502

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.305C>T; p.A102V; 1:182586502-182586502

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.541G>A; p.V181I; 1:182586266-182586266

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.338C>G; p.S113C; 1:182586469-182586469

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2063C>T; p.P688L; 1:182575555-182575555

 central_nervous_system; braingliomaSubstitution - Missense

c.738A>C; p.A246A; 1:182586069-182586069

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1481-1G>T; p.?; 1:182584167-182584167

 NSNSUnknown

c.2072A>G; p.Y691C; 1:182575546-182575546

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.105C>T; p.N35N; 1:182586702-182586702

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

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