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

Basic Information

Gene ID

5932

Name

RBBP8

Synonymous

retinoblastoma binding protein 8;RBBP8;retinoblastoma binding protein 8

Definition

CTBP-interacting protein|DNA endonuclease RBBP8|RBBP-8|sporulation in the absence of SPO11 protein 2 homolog

Position

18q11.2

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 0.32.

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.1309C>A; p.L437M; 18:22993136-22993136

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1791G>T; p.E597D; 18:22993618-22993618

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2590G>A; p.E864K; 18:23022264-23022264

 central_nervous_system; braingliomaSubstitution - Missense

c.2494T>C; p.L832L; 18:23022168-23022168

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.562G>T; p.E188*; 18:22982351-22982351

 breastcarcinomaSubstitution - Nonsense

c.2670A>C; p.P890P; 18:23026216-23026216

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.2087G>A; p.S696N; 18:22997678-22997678

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1063delA; p.K357fs*3; 18:22992890-22992890

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.1063delA; p.K357fs*3; 18:22992890-22992890

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1063delA; p.K357fs*3; 18:22992890-22992890

 large_intestine; rectumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1063delA; p.K357fs*3; 18:22992890-22992890

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1063delA; p.K357fs*3; 18:22992890-22992890

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1063delA; p.K357fs*3; 18:22992890-22992890

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.981T>A; p.S327S; 18:22992808-22992808

 skinmalignant_melanomaSubstitution - coding silent

c.1063delA; p.K357fs*3; 18:22992890-22992890

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1063delA; p.K357fs*3; 18:22992890-22992890

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1063delA; p.K357fs*3; 18:22992890-22992890

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.1063delA; p.K357fs*3; 18:22992890-22992890

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1063delA; p.K357fs*3; 18:22992890-22992890

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1063delA; p.K357fs*3; 18:22992890-22992890

 ovarycarcinoma; serous_carcinomaDeletion - Frameshift

c.1063delA; p.K357fs*3; 18:22992890-22992890

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1493C>A; p.S498*; 18:22993320-22993320

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1040C>T; p.S347F; 18:22992867-22992867

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2305G>T; p.D769Y; 18:23006380-23006380

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1728A>C; p.Q576H; 18:22993555-22993555

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.846_847insTACCACTG; p.L286fs*24; 18:22990975-22990976

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaInsertion - Frameshift

c.1393T>G; p.F465V; 18:22993220-22993220

 thyroidother; neoplasmSubstitution - Missense

c.1434_1446del13; p.F479fs*4; 18:22993261-22993273

 oesophagus; lower_thirdcarcinoma; adenocarcinomaDeletion - Frameshift

c.291A>G; p.E97E; 18:22968848-22968848

 biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - coding silent

c.1306C>T; p.P436S; 18:22993133-22993133

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1306C>T; p.P436S; 18:22993133-22993133

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1306C>T; p.P436S; 18:22993133-22993133

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.667C>A; p.L223I; 18:22984948-22984948

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.2485G>T; p.E829*; 18:23022159-23022159

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.2485G>T; p.E829*; 18:23022159-23022159

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1972G>T; p.D658Y; 18:22996406-22996406

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1085T>A; p.L362H; 18:22992912-22992912

 skinmalignant_melanomaSubstitution - Missense

c.2429G>T; p.G810V; 18:23016899-23016899

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2429G>T; p.G810V; 18:23016899-23016899

 breastcarcinomaSubstitution - Missense

c.621C>A; p.S207S; 18:22984902-22984902

 livercarcinomaSubstitution - coding silent

c.609G>A; p.M203I; 18:22984890-22984890

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1659C>A; p.P553P; 18:22993486-22993486

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2679G>T; p.K893N; 18:23026225-23026225

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.11C>T; p.S4L; 18:22936862-22936862

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.958G>A; p.E320K; 18:22992785-22992785

 skinmalignant_melanomaSubstitution - Missense

c.1701C>G; p.C567W; 18:22993528-22993528

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1705C>A; p.P569T; 18:22993532-22993532

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2641C>T; p.R881C; 18:23026187-23026187

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2019A>T; p.I673I; 18:22996453-22996453

 skinmalignant_melanomaSubstitution - coding silent

c.853T>G; p.C285G; 18:22990982-22990982

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2283A>G; p.L761L; 18:23001725-23001725

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.634C>T; p.H212Y; 18:22984915-22984915

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.970C>T; p.R324*; 18:22992797-22992797

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.216C>T; p.V72V; 18:22949681-22949681

 skinmalignant_melanomaSubstitution - coding silent

c.1948_1952delTTTGA; p.F650fs*16; 18:22996382-22996386

 kidneycarcinoma; clear_cell_renal_cell_carcinomaDeletion - Frameshift

c.827G>A; p.S276N; 18:22990956-22990956

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1327C>T; p.R443*; 18:22993154-22993154

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.684T>C; p.Y228Y; 18:22984965-22984965

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.663A>T; p.E221D; 18:22984944-22984944

 oesophaguscarcinomaSubstitution - Missense

c.1363_1364delGA; p.E455fs*2; 18:22993190-22993191

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.475G>A; p.V159I; 18:22982264-22982264

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.109G>T; p.G37C; 18:22936960-22936960

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.300G>T; p.R100R; 18:22968857-22968857

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1063A>G; p.K355E; 18:22992890-22992890

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.2254G>C; p.E752Q; 18:23001696-23001696

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2254G>C; p.E752Q; 18:23001696-23001696

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2254G>C; p.E752Q; 18:23001696-23001696

 breastcarcinomaSubstitution - Missense

c.1719A>G; p.P573P; 18:22993546-22993546

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.272G>A; p.R91H; 18:22968829-22968829

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.272G>A; p.R91H; 18:22968829-22968829

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2627C>T; p.P876L; 18:23026173-23026173

 prostatecarcinomaSubstitution - Missense

c.1180G>A; p.V394M; 18:22993007-22993007

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1180G>A; p.V394M; 18:22993007-22993007

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2435C>T; p.T812M; 18:23016905-23016905

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1125T>A; p.T375T; 18:22992952-22992952

 breastcarcinomaSubstitution - coding silent

c.1062G>A; p.G354G; 18:22992889-22992889

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.298_299insC; p.R100fs*8; 18:22968855-22968856

 biliary_tract; bile_ductcarcinoma; adenocarcinomaInsertion - Frameshift

c.831C>T; p.P277P; 18:22990960-22990960

 skinmalignant_melanomaSubstitution - coding silent

c.2115G>A; p.K705K; 18:22997706-22997706

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1598C>T; p.S533F; 18:22993425-22993425

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1659C>G; p.P553P; 18:22993486-22993486

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1659C>G; p.P553P; 18:22993486-22993486

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1598C>T; p.S533F; 18:22993425-22993425

 skinmalignant_melanomaSubstitution - Missense

c.1111A>C; p.R371R; 18:22992938-22992938

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.2302C>G; p.Q768E; 18:23006377-23006377

 livercarcinomaSubstitution - Missense

c.546C>T; p.P182P; 18:22982335-22982335

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2302C>G; p.Q768E; 18:23006377-23006377

 livercarcinomaSubstitution - Missense

c.2302C>G; p.Q768E; 18:23006377-23006377

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.554G>A; p.R185Q; 18:22982343-22982343

 pituitary; craniopharyngeal_ductcraniopharyngioma; adamantinomatousSubstitution - Missense

c.1501C>T; p.Q501*; 18:22993328-22993328

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1527T>G; p.S509R; 18:22993354-22993354

 skinmalignant_melanomaSubstitution - Missense

c.1234A>G; p.I412V; 18:22993061-22993061

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.799G>A; p.E267K; 18:22989310-22989310

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2015delT; p.V672fs*2; 18:22996449-22996449

 lungcarcinoma; adenocarcinomaDeletion - Frameshift

c.2666C>A; p.S889Y; 18:23026212-23026212

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.329G>A; p.R110Q; 18:22968886-22968886

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.557A>G; p.Y186C; 18:22982346-22982346

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.667C>T; p.L223L; 18:22984948-22984948

 livercarcinomaSubstitution - coding silent

c.667C>T; p.L223L; 18:22984948-22984948

 livercarcinomaSubstitution - coding silent

c.2033G>A; p.G678D; 18:22997624-22997624

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1063_1064insA; p.H358fs*8; 18:22992890-22992891

 biliary_tract; bile_ductcarcinoma; adenocarcinomaInsertion - Frameshift

c.2515C>T; p.R839*; 18:23022189-23022189

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.2515C>T; p.R839*; 18:23022189-23022189

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Nonsense

c.172G>A; p.E58K; 18:22949637-22949637

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.551T>C; p.V184A; 18:22982340-22982340

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1670A>T; p.E557V; 18:22993497-22993497

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2061A>G; p.T687T; 18:22997652-22997652

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2383C>G; p.H795D; 18:23016853-23016853

 breastcarcinomaSubstitution - Missense

c.2211A>T; p.E737D; 18:23001653-23001653

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1856A>T; p.D619V; 18:22993764-22993764

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1147G>T; p.A383S; 18:22992974-22992974

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.172G>C; p.E58Q; 18:22949637-22949637

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.773C>G; p.A258G; 18:22989284-22989284

 central_nervous_system; braingliomaSubstitution - Missense

c.1061G>T; p.G354V; 18:22992888-22992888

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1487G>A; p.R496Q; 18:22993314-22993314

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2627C>G; p.P876R; 18:23026173-23026173

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1351G>A; p.E451K; 18:22993178-22993178

 breastcarcinomaSubstitution - Missense

c.1369G>A; p.E457K; 18:22993196-22993196

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.637C>T; p.P213S; 18:22984918-22984918

 skinmalignant_melanomaSubstitution - Missense

c.525G>A; p.R175R; 18:22982314-22982314

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.1504C>T; p.R502C; 18:22993331-22993331

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2188C>T; p.R730W; 18:23001630-23001630

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2612A>G; p.D871G; 18:23026158-23026158

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1349C>G; p.T450S; 18:22993176-22993176

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.36C>A; p.N12K; 18:22936887-22936887

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1977G>A; p.P659P; 18:22996411-22996411

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2456A>G; p.Y819C; 18:23022130-23022130

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1858C>T; p.H620Y; 18:22993766-22993766

 skinmalignant_melanomaSubstitution - Missense

c.530G>A; p.R177Q; 18:22982319-22982319

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1471C>G; p.L491V; 18:22993298-22993298

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1471C>G; p.L491V; 18:22993298-22993298

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1322G>A; p.G441E; 18:22993149-22993149

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1305G>T; p.E435D; 18:22993132-22993132

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2447G>T; p.C816F; 18:23016917-23016917

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2447G>T; p.C816F; 18:23016917-23016917

 large_intestine; coloncarcinomaSubstitution - Missense

c.85G>T; p.E29*; 18:22936936-22936936

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.172G>T; p.E58*; 18:22949637-22949637

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1544_1571del28; p.K515fs*2; 18:22993371-22993398

 breastcarcinomaDeletion - Frameshift

c.315G>T; p.E105D; 18:22968872-22968872

 thyroidother; neoplasmSubstitution - Missense

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