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

Basic Information

Gene ID

104

Name

ADARB1

Synonymous

adenosine deaminase, RNA-specific, B1;ADARB1;adenosine deaminase, RNA-specific, B1

Definition

RED1 homolog|RNA editase|RNA editing deaminase 1|RNA-editing deaminase 1|RNA-editing enzyme 1|adenosine deaminase, RNA-specific, B1 (RED1 homolog rat)|adenosine deaminase, RNA-specific, B1 (homolog of rat RED1)|double-stranded RNA-specific editase 1|dsRNA

Position

21q22.3

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 0.10.

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.1748C>T; p.S583L; 21:45204617-45204617

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1748C>T; p.S583L; 21:45204617-45204617

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1868-3C>T; p.?; 21:45220833-45220833

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.2054C>T; p.S685F; 21:45222025-45222025

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1895C>T; p.P632L; 21:45220863-45220863

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.226C>T; p.P76S; 21:45175927-45175927

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.555G>T; p.K185N; 21:45176256-45176256

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.907C>T; p.Q303*; 21:45176608-45176608

 skinmalignant_melanomaSubstitution - Nonsense

c.1123A>G; p.T375A; 21:45182629-45182629

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2001G>T; p.L667L; 21:45220969-45220969

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - coding silent

c.2001G>T; p.L667L; 21:45220969-45220969

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1129T>G; p.C377G; 21:45182635-45182635

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2121G>T; p.E707D; 21:45222092-45222092

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1694T>C; p.V565A; 21:45204563-45204563

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1541G>A; p.R514H; 21:45184947-45184947

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2191C>T; p.P731S; 21:45222162-45222162

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1589C>T; p.T530M; 21:45184995-45184995

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1665C>T; p.S555S; 21:45185071-45185071

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.880G>A; p.A294T; 21:45176581-45176581

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1157G>A; p.R386H; 21:45182663-45182663

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1358A>T; p.D453V; 21:45183472-45183472

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2223C>A; p.P741P; 21:45222194-45222194

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.244G>A; p.A82T; 21:45175945-45175945

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1183G>A; p.A395T; 21:45182689-45182689

 livercarcinomaSubstitution - Missense

c.1183G>A; p.A395T; 21:45182689-45182689

 livercarcinomaSubstitution - Missense

c.417G>A; p.L139L; 21:45176118-45176118

 breastcarcinomaSubstitution - coding silent

c.1808G>A; p.R603Q; 21:45204677-45204677

 central_nervous_system; braingliomaSubstitution - Missense

c.1776C>T; p.H592H; 21:45204645-45204645

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.131G>A; p.G44E; 21:45175832-45175832

 skinmalignant_melanomaSubstitution - Missense

c.537T>G; p.G179G; 21:45176238-45176238

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1952T>A; p.V651D; 21:45220920-45220920

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.693G>A; p.P231P; 21:45176394-45176394

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.373_374CC>TT; p.P125F; 21:45176074-45176075

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1371C>T; p.F457F; 21:45183485-45183485

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.720G>T; p.L240F; 21:45176421-45176421

 thyroidother; neoplasmSubstitution - Missense

c.2130C>T; p.A710A; 21:45222101-45222101

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1279C>G; p.Q427E; 21:45183393-45183393

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.519T>C; p.P173P; 21:45176220-45176220

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1987C>T; p.R663C; 21:45220955-45220955

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.823G>A; p.E275K; 21:45176524-45176524

 skinmalignant_melanomaSubstitution - Missense

c.373C>T; p.P125S; 21:45176074-45176074

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.931C>T; p.P311S; 21:45176632-45176632

 skin; shouldermalignant_melanomaSubstitution - Missense

c.557C>T; p.A186V; 21:45176258-45176258

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1933G>A; p.G645S; 21:45220901-45220901

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.2160C>G; p.I720M; 21:45222131-45222131

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.318G>A; p.A106A; 21:45176019-45176019

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.318G>A; p.A106A; 21:45176019-45176019

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1693G>A; p.V565M; 21:45204562-45204562

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1291C>T; p.R431*; 21:45183405-45183405

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1291C>T; p.R431*; 21:45183405-45183405

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.6T>C; p.D2D; 21:45171662-45171662

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1796C>G; p.A599G; 21:45204665-45204665

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.691C>T; p.P231S; 21:45176392-45176392

 skinmalignant_melanomaSubstitution - Missense

c.1209G>T; p.L403F; 21:45182715-45182715

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1868G>C; p.G623A; 21:45220836-45220836

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2082G>A; p.K694K; 21:45222053-45222053

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.789C>T; p.F263F; 21:45176490-45176490

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.858_859CC>TT; p.R287W; 21:45176559-45176560

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2076T>C; p.I692I; 21:45222047-45222047

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.455A>C; p.H152P; 21:45176156-45176156

 breastcarcinomaSubstitution - Missense

c.759C>T; p.S253S; 21:45176460-45176460

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.766G>A; p.G256R; 21:45176467-45176467

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.609C>T; p.S203S; 21:45176310-45176310

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1594C>T; p.P532S; 21:45185000-45185000

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.1594C>T; p.P532S; 21:45185000-45185000

 skinmalignant_melanomaSubstitution - Missense

c.708C>T; p.P236P; 21:45176409-45176409

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1630G>A; p.G544R; 21:45185036-45185036

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.565C>T; p.P189S; 21:45176266-45176266

 skinmalignant_melanomaSubstitution - Missense

c.875C>A; p.A292D; 21:45176576-45176576

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1127A>C; p.K376T; 21:45182633-45182633

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.768G>T; p.G256G; 21:45176469-45176469

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.113G>T; p.G38V; 21:45175814-45175814

 peritoneum; appendixother; pseudomyxoma_peritoneiSubstitution - Missense

c.2040C>T; p.H680H; 21:45221008-45221008

 livercarcinomaSubstitution - coding silent

c.1693G>T; p.V565L; 21:45204562-45204562

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.98C>T; p.P33L; 21:45175799-45175799

 skinmalignant_melanomaSubstitution - Missense

c.960G>A; p.P320P; 21:45176661-45176661

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.695G>T; p.S232I; 21:45176396-45176396

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1708G>T; p.G570*; 21:45204577-45204577

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.290T>C; p.L97P; 21:45175991-45175991

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.610G>T; p.G204W; 21:45176311-45176311

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1622C>T; p.T541M; 21:45185028-45185028

 stomachcarcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiableSubstitution - Missense

c.1622C>T; p.T541M; 21:45185028-45185028

 breastcarcinomaSubstitution - Missense

c.1959C>T; p.N653N; 21:45220927-45220927

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1622C>T; p.T541M; 21:45185028-45185028

 pancreascarcinomaSubstitution - Missense

c.1074A>G; p.T358T; 21:45180440-45180440

 thyroidother; neoplasmSubstitution - coding silent

c.1074A>G; p.T358T; 21:45180440-45180440

 thyroidother; neoplasmSubstitution - coding silent

c.1096G>A; p.A366T; 21:45182602-45182602

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.279G>T; p.L93F; 21:45175980-45175980

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1965G>A; p.T655T; 21:45220933-45220933

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1965G>A; p.T655T; 21:45220933-45220933

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1965G>A; p.T655T; 21:45220933-45220933

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.920G>A; p.R307H; 21:45176621-45176621

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.867G>A; p.A289A; 21:45176568-45176568

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.920G>A; p.R307H; 21:45176621-45176621

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1915A>G; p.S639G; 21:45220883-45220883

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.510C>T; p.A170A; 21:45176211-45176211

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1280A>G; p.Q427R; 21:45183394-45183394

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.302C>A; p.T101N; 21:45176003-45176003

 skinmalignant_melanomaSubstitution - Missense

c.1321C>T; p.Q441*; 21:45183435-45183435

 skinmalignant_melanomaSubstitution - Nonsense

c.2024G>A; p.R675H; 21:45220992-45220992

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.724G>A; p.E242K; 21:45176425-45176425

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.911C>T; p.T304M; 21:45176612-45176612

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2024G>A; p.R675H; 21:45220992-45220992

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2217C>A; p.L739L; 21:45222188-45222188

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1692C>T; p.N564N; 21:45204561-45204561

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1992G>A; p.A664A; 21:45220960-45220960

 pancreascarcinomaSubstitution - coding silent

c.731G>A; p.R244H; 21:45176432-45176432

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.731G>A; p.R244H; 21:45176432-45176432

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.731G>A; p.R244H; 21:45176432-45176432

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1860G>C; p.L620F; 21:45204729-45204729

 thyroidcarcinomaSubstitution - Missense

c.1517-1G>C; p.?; 21:45184922-45184922

 lungcarcinoma; adenocarcinomaUnknown

c.760G>A; p.E254K; 21:45176461-45176461

 skinmalignant_melanomaSubstitution - Missense

c.1385C>T; p.P462L; 21:45183499-45183499

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1262delA; p.R423fs*14; 21:45183376-45183376

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.59G>A; p.R20H; 21:45175760-45175760

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.935G>T; p.S312I; 21:45176636-45176636

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1354G>T; p.G452*; 21:45183468-45183468

 large_intestine; coloncarcinomaSubstitution - Nonsense

c.1354G>T; p.G452*; 21:45183468-45183468

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1728C>T; p.F576F; 21:45204597-45204597

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1728C>T; p.F576F; 21:45204597-45204597

 skinmalignant_melanomaSubstitution - coding silent

c.1728C>T; p.F576F; 21:45204597-45204597

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1219C>A; p.L407I; 21:45182725-45182725

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1179C>T; p.C393C; 21:45182685-45182685

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2098G>C; p.E700Q; 21:45222069-45222069

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1309A>G; p.K437E; 21:45183423-45183423

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1309A>G; p.K437E; 21:45183423-45183423

 large_intestine; coloncarcinomaSubstitution - Missense

c.1199G>A; p.R400Q; 21:45182705-45182705

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

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