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

Basic Information

Gene ID

23221

Name

RHOBTB2

Synonymous

Rho-related BTB domain containing 2;RHOBTB2;Rho-related BTB domain containing 2

Definition

deleted in breast cancer 2 gene protein|p83|rho-related BTB domain-containing protein 2

Position

8p21.3

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 0.07.

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.464C>T; p.A155V; 8:23006127-23006127

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.802G>A; p.V268I; 8:23007047-23007047

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.970G>T; p.D324Y; 8:23007215-23007215

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.1125A>C; p.G375G; 8:23007370-23007370

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.568G>T; p.V190L; 8:23006813-23006813

 bone; pelvischondrosarcomaSubstitution - Missense

c.537G>A; p.K179K; 8:23006782-23006782

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.186C>T; p.C62C; 8:23004620-23004620

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1789G>T; p.G597W; 8:23014707-23014707

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.723G>A; p.P241P; 8:23006968-23006968

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.606C>T; p.N202N; 8:23006851-23006851

 pancreascarcinomaSubstitution - coding silent

c.820G>A; p.E274K; 8:23007065-23007065

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1039G>A; p.V347M; 8:23007284-23007284

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.606C>T; p.N202N; 8:23006851-23006851

 pancreascarcinomaSubstitution - coding silent

c.34G>A; p.V12I; 8:23004468-23004468

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.368A>C; p.Y123S; 8:23006031-23006031

 breastcarcinomaSubstitution - Missense

c.1594C>G; p.P532A; 8:23008085-23008085

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.899T>C; p.L300P; 8:23007144-23007144

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.209G>T; p.R70L; 8:23005388-23005388

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.830G>A; p.R277H; 8:23007075-23007075

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.830G>A; p.R277H; 8:23007075-23007075

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1381C>T; p.R461C; 8:23007626-23007626

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1692C>T; p.T564T; 8:23010609-23010609

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.434G>A; p.R145H; 8:23006097-23006097

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1536C>T; p.S512S; 8:23008027-23008027

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.278G>A; p.R93H; 8:23005457-23005457

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.397G>T; p.A133S; 8:23006060-23006060

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.668A>G; p.N223S; 8:23006913-23006913

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.69C>T; p.N23N; 8:23004503-23004503

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.523C>T; p.R175W; 8:23006768-23006768

 skinmalignant_melanomaSubstitution - Missense

c.276C>T; p.D92D; 8:23005455-23005455

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.832A>G; p.I278V; 8:23007077-23007077

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.277C>T; p.R93C; 8:23005456-23005456

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.918G>T; p.G306G; 8:23007163-23007163

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.610A>G; p.I204V; 8:23006855-23006855

 breastcarcinomaSubstitution - Missense

c.1659C>T; p.A553A; 8:23010576-23010576

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.71C>T; p.A24V; 8:23004505-23004505

 skinmalignant_melanomaSubstitution - Missense

c.71C>T; p.A24V; 8:23004505-23004505

 skinmalignant_melanomaSubstitution - Missense

c.71C>T; p.A24V; 8:23004505-23004505

 skinmalignant_melanomaSubstitution - Missense

c.1413G>T; p.E471D; 8:23007658-23007658

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1559C>T; p.S520F; 8:23008050-23008050

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1559C>T; p.S520F; 8:23008050-23008050

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2098C>T; p.R700C; 8:23017383-23017383

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2053C>T; p.R685C; 8:23017338-23017338

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1050C>T; p.S350S; 8:23007295-23007295

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.838_839insC; p.H281fs*14; 8:23007083-23007084

 large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.845A>C; p.K282T; 8:23007090-23007090

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.470G>T; p.R157L; 8:23006133-23006133

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.325A>G; p.I109V; 8:23005988-23005988

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1993C>T; p.R665W; 8:23017278-23017278

 prostatecarcinomaSubstitution - Missense

c.1886A>G; p.D629G; 8:23015663-23015663

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.232G>A; p.V78I; 8:23005411-23005411

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.594C>T; p.D198D; 8:23006839-23006839

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1966G>A; p.E656K; 8:23015743-23015743

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1068C>T; p.G356G; 8:23007313-23007313

 skinmalignant_melanomaSubstitution - coding silent

c.582C>T; p.F194F; 8:23006827-23006827

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.209G>A; p.R70Q; 8:23005388-23005388

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.15G>A; p.M5I; 8:23004449-23004449

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.169G>A; p.D57N; 8:23004603-23004603

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.169G>A; p.D57N; 8:23004603-23004603

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.876C>A; p.F292L; 8:23007121-23007121

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.392C>G; p.P131R; 8:23006055-23006055

 prostateadenomaSubstitution - Missense

c.1072G>T; p.G358C; 8:23007317-23007317

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.393C>A; p.P131P; 8:23006056-23006056

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1616G>A; p.R539Q; 8:23008107-23008107

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1616G>A; p.R539Q; 8:23008107-23008107

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.996C>T; p.H332H; 8:23007241-23007241

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.532G>A; p.A178T; 8:23006777-23006777

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1007G>A; p.R336Q; 8:23007252-23007252

 skinmalignant_melanomaSubstitution - Missense

c.1184G>A; p.S395N; 8:23007429-23007429

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.717G>A; p.P239P; 8:23006962-23006962

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.1304C>T; p.T435M; 8:23007549-23007549

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1410T>C; p.N470N; 8:23007655-23007655

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1975_1977delGAG; p.E659delE; 8:23017260-23017262

 ovarycarcinoma; adenocarcinomaDeletion - In frame

c.982C>T; p.H328Y; 8:23007227-23007227

 breastcarcinomaSubstitution - Missense

c.52G>A; p.V18I; 8:23004486-23004486

 oesophaguscarcinomaSubstitution - Missense

c.267C>G; p.H89Q; 8:23005446-23005446

 central_nervous_system; brainglioma; oligoastrocytomaSubstitution - Missense

c.1054G>A; p.D352N; 8:23007299-23007299

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.567C>T; p.S189S; 8:23006812-23006812

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1450G>A; p.V484I; 8:23007695-23007695

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1640G>A; p.S547N; 8:23010557-23010557

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.117C>T; p.T39T; 8:23004551-23004551

 lungcarcinoma; non_small_cell_carcinomaSubstitution - coding silent

c.849C>T; p.I283I; 8:23007094-23007094

 skinmalignant_melanomaSubstitution - coding silent

c.1305delG; p.E437fs*2; 8:23007550-23007550

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.849C>T; p.I283I; 8:23007094-23007094

 skinmalignant_melanomaSubstitution - coding silent

c.217G>A; p.V73I; 8:23005396-23005396

 pancreascarcinomaSubstitution - Missense

c.1780A>G; p.T594A; 8:23014698-23014698

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.486C>T; p.P162P; 8:23006731-23006731

 skinmalignant_melanomaSubstitution - coding silent

c.433C>T; p.R145C; 8:23006096-23006096

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.93C>A; p.I31I; 8:23004527-23004527

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1466G>A; p.R489Q; 8:23007711-23007711

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1045G>A; p.E349K; 8:23007290-23007290

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1045G>A; p.E349K; 8:23007290-23007290

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1620+5G>T; p.?; 8:23008116-23008116

 skinmalignant_melanomaUnknown

c.1749G>A; p.L583L; 8:23010666-23010666

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1097C>T; p.T366I; 8:23007342-23007342

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1962C>A; p.S654S; 8:23015739-23015739

 kidneyother; neoplasmSubstitution - coding silent

c.915delG; p.G307fs*88; 8:23007160-23007160

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.1534A>G; p.S512G; 8:23008025-23008025

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1154T>C; p.V385A; 8:23007399-23007399

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1139C>T; p.P380L; 8:23007384-23007384

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1114C>T; p.R372W; 8:23007359-23007359

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.1375G>C; p.D459H; 8:23007620-23007620

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1114C>T; p.R372W; 8:23007359-23007359

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.214G>A; p.V72M; 8:23005393-23005393

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.703delC; p.K237fs*64; 8:23006948-23006948

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1575G>A; p.M525I; 8:23008066-23008066

 lung; middle_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.213C>T; p.D71D; 8:23005392-23005392

 breastcarcinomaSubstitution - coding silent

c.1937_1938insC; p.R648fs*39; 8:23015714-23015715

 oesophaguscarcinoma; adenocarcinomaInsertion - Frameshift

c.1622T>G; p.V541G; 8:23010539-23010539

 breastcarcinomaSubstitution - Missense

c.1509C>T; p.T503T; 8:23008000-23008000

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1104C>T; p.D368D; 8:23007349-23007349

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1327C>T; p.R443C; 8:23007572-23007572

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1540C>A; p.H514N; 8:23008031-23008031

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1738C>T; p.R580C; 8:23010655-23010655

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1738C>T; p.R580C; 8:23010655-23010655

 skinmalignant_melanomaSubstitution - Missense

c.829C>T; p.R277C; 8:23007074-23007074

 prostatecarcinomaSubstitution - Missense

c.8C>T; p.S3F; 8:23004442-23004442

 breastcarcinomaSubstitution - Missense

c.281G>A; p.R94H; 8:23005460-23005460

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2096G>A; p.R699Q; 8:23017381-23017381

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2096G>A; p.R699Q; 8:23017381-23017381

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1400T>C; p.I467T; 8:23007645-23007645

 bone; tibiaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.859A>G; p.T287A; 8:23007104-23007104

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.857C>G; p.S286C; 8:23007102-23007102

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.801C>T; p.D267D; 8:23007046-23007046

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.241C>T; p.R81C; 8:23005420-23005420

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1654C>T; p.R552W; 8:23010571-23010571

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1689C>T; p.F563F; 8:23010606-23010606

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1318G>T; p.E440*; 8:23007563-23007563

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.632G>A; p.R211H; 8:23006877-23006877

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1366G>A; p.E456K; 8:23007611-23007611

 skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1324G>A; p.E442K; 8:23007569-23007569

 soft_tissue; striated_musclerhabdomyosarcoma; embryonalSubstitution - Missense

c.1324G>A; p.E442K; 8:23007569-23007569

 soft_tissue; striated_musclerhabdomyosarcomaSubstitution - Missense

c.1324G>A; p.E442K; 8:23007569-23007569

 breastcarcinomaSubstitution - Missense

c.442G>T; p.D148Y; 8:23006105-23006105

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1771G>T; p.E591*; 8:23010688-23010688

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.2169C>A; p.S723S; 8:23017454-23017454

 thyroidother; neoplasmSubstitution - coding silent

c.1174G>A; p.A392T; 8:23007419-23007419

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1087C>T; p.R363C; 8:23007332-23007332

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2172G>A; p.S724S; 8:23017457-23017457

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - coding silent

c.927G>A; p.S309S; 8:23007172-23007172

 skinmalignant_melanomaSubstitution - coding silent

c.420C>A; p.C140*; 8:23006083-23006083

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Nonsense

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