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

Basic Information

Gene ID

5931

Name

RBBP7

Synonymous

retinoblastoma binding protein 7;RBBP7;retinoblastoma binding protein 7

Definition

G1/S transition control protein-binding protein RbAp46|RBBP-7|histone acetyltransferase type B subunit 2|histone-binding protein RBBP7|nucleosome-remodeling factor subunit RBAP46|retinoblastoma-binding protein 7|retinoblastoma-binding protein RbAp46|retin

Position

Xp22.2

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 0.10.

The copy number variations for various cancers

Top

There is no record for RBBP7

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.908G>A; p.R303H; 23:16852606-16852606

 pancreascarcinomaSubstitution - Missense

c.908G>A; p.R303H; 23:16852606-16852606

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.908G>A; p.R303H; 23:16852606-16852606

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.83C>T; p.P28L; 23:16869154-16869154

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1101T>C; p.F367F; 23:16845936-16845936

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.1202G>A; p.W401*; 23:16845835-16845835

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1222T>G; p.Y408D; 23:16845091-16845091

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.625G>T; p.G209*; 23:16853815-16853815

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.414C>T; p.I138I; 23:16858743-16858743

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1007G>A; p.G336D; 23:16852079-16852079

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.827A>G; p.N276S; 23:16852807-16852807

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.827A>G; p.N276S; 23:16852807-16852807

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.827A>G; p.N276S; 23:16852807-16852807

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.781A>C; p.T261P; 23:16852853-16852853

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1247C>T; p.T416M; 23:16845066-16845066

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1015C>A; p.R339S; 23:16852071-16852071

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.707T>C; p.L236P; 23:16853733-16853733

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.715G>C; p.E239Q; 23:16853725-16853725

 breastcarcinomaSubstitution - Missense

c.482-1G>C; p.?; 23:16857710-16857710

 prostatecarcinomaUnknown

c.878C>T; p.A293V; 23:16852756-16852756

 pancreascarcinomaSubstitution - Missense

c.1209+1G>T; p.?; 23:16845827-16845827

 breastcarcinomaUnknown

c.1132G>A; p.D378N; 23:16845905-16845905

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.384T>C; p.R128R; 23:16858773-16858773

 prostatecarcinomaSubstitution - coding silent

c.88C>A; p.L30I; 23:16869149-16869149

 breastcarcinomaSubstitution - Missense

c.416T>C; p.I139T; 23:16858741-16858741

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.49A>G; p.N17D; 23:16869188-16869188

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.520G>A; p.G174S; 23:16857671-16857671

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1255G>A; p.E419K; 23:16845058-16845058

 breastcarcinomaSubstitution - Missense

c.826A>C; p.N276H; 23:16852808-16852808

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.941C>A; p.S314Y; 23:16852573-16852573

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1159delT; p.W387fs*>39; 23:16845878-16845878

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.184C>T; p.L62F; 23:16863078-16863078

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1020C>A; p.R340R; 23:16852066-16852066

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.810G>A; p.A270A; 23:16852824-16852824

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.212C>T; p.T71M; 23:16863050-16863050

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.501T>G; p.N167K; 23:16857690-16857690

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.963+2T>C; p.?; 23:16852549-16852549

 kidneycarcinoma; clear_cell_renal_cell_carcinomaUnknown

c.610T>C; p.W204R; 23:16853830-16853830

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1076A>G; p.E359G; 23:16849266-16849266

 prostatecarcinomaSubstitution - Missense

c.609G>A; p.L203L; 23:16853831-16853831

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.142T>C; p.W48R; 23:16869095-16869095

 livercarcinomaSubstitution - Missense

c.142T>C; p.W48R; 23:16869095-16869095

 livercarcinomaSubstitution - Missense

c.539A>G; p.Y180C; 23:16857652-16857652

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.151G>A; p.E51K; 23:16869086-16869086

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.934T>C; p.F312L; 23:16852580-16852580

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.934T>C; p.F312L; 23:16852580-16852580

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.382C>T; p.R128C; 23:16858775-16858775

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.382C>T; p.R128C; 23:16858775-16858775

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.382C>T; p.R128C; 23:16858775-16858775

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.382C>T; p.R128C; 23:16858775-16858775

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1106A>T; p.H369L; 23:16845931-16845931

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.43G>A; p.V15I; 23:16869194-16869194

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.75_77delGAA; p.K25delK; 23:16869160-16869162

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - In frame

c.234G>C; p.L78L; 23:16863028-16863028

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.72G>A; p.K24K; 23:16869165-16869165

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.72G>A; p.K24K; 23:16869165-16869165

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.958T>G; p.F320V; 23:16852556-16852556

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.831C>T; p.C277C; 23:16852803-16852803

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.764A>G; p.D255G; 23:16852870-16852870

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.943C>T; p.H315Y; 23:16852571-16852571

 skinmalignant_melanomaSubstitution - Missense

c.184C>A; p.L62I; 23:16863078-16863078

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.889G>T; p.V297L; 23:16852625-16852625

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.506A>C; p.D169A; 23:16857685-16857685

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.98_109del12; p.L33_T36delLVMT; 23:16869128-16869139

 biliary_tract; bile_ductcarcinoma; adenocarcinomaDeletion - In frame

c.25G>T; p.D9Y; 23:16869212-16869212

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.621C>T; p.N207N; 23:16853819-16853819

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1098+4C>T; p.?; 23:16849240-16849240

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.1100T>G; p.F367C; 23:16845937-16845937

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.809C>T; p.A270V; 23:16852825-16852825

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.959delT; p.F320fs*22; 23:16852555-16852555

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; plasma_cell_myelomaDeletion - Frameshift

c.367G>A; p.E123K; 23:16858790-16858790

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.367G>A; p.E123K; 23:16858790-16858790

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.842A>G; p.N281S; 23:16852792-16852792

 livercarcinomaSubstitution - Missense

c.842A>G; p.N281S; 23:16852792-16852792

 livercarcinomaSubstitution - Missense

c.634G>T; p.E212*; 23:16853806-16853806

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.232C>T; p.L78L; 23:16863030-16863030

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.936C>T; p.F312F; 23:16852578-16852578

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.936C>T; p.F312F; 23:16852578-16852578

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.17-8A>G; p.?; 23:16869228-16869228

 oesophaguscarcinoma; adenocarcinomaUnknown

c.820G>A; p.E274K; 23:16852814-16852814

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.652G>T; p.A218S; 23:16853788-16853788

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.820G>A; p.E274K; 23:16852814-16852814

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.820G>A; p.E274K; 23:16852814-16852814

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1039A>T; p.S347C; 23:16852047-16852047

 pancreascarcinomaSubstitution - Missense

c.937G>A; p.E313K; 23:16852577-16852577

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.937G>A; p.E313K; 23:16852577-16852577

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.592G>A; p.D198N; 23:16857599-16857599

 skin; legmalignant_melanomaSubstitution - Missense

c.592G>A; p.D198N; 23:16857599-16857599

 skin; legmalignant_melanomaSubstitution - Missense

c.1024A>C; p.N342H; 23:16852062-16852062

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1254C>T; p.S418S; 23:16845059-16845059

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.308-1G>T; p.?; 23:16858850-16858850

 lungcarcinoma; small_cell_carcinomaUnknown

c.1019G>A; p.R340H; 23:16852067-16852067

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1019G>A; p.R340H; 23:16852067-16852067

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1019G>A; p.R340H; 23:16852067-16852067

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1019G>A; p.R340H; 23:16852067-16852067

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

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