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

Basic Information

Gene ID

29959

Name

NRBP1

Synonymous

nuclear receptor binding protein 1;NRBP1;nuclear receptor binding protein 1

Definition

multiple domain putative nuclear protein|myeloid leukemia factor 1 adaptor molecule|nuclear receptor-binding protein

Position

2p23

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 0.11.

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.976G>C; p.A326P; 2:27439838-27439838

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.516G>C; p.M172I; 2:27434551-27434551

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.512C>T; p.T171M; 2:27434547-27434547

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.542G>T; p.C181F; 2:27434738-27434738

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.6G>A; p.S2S; 2:27433279-27433279

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1012G>A; p.A338T; 2:27439874-27439874

livercarcinomaSubstitution - Missense

c.1383+1G>A; p.?; 2:27441181-27441181

large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.1114G>A; p.G372R; 2:27440480-27440480

livercarcinomaSubstitution - Missense

c.1114G>A; p.G372R; 2:27440480-27440480

livercarcinomaSubstitution - Missense

c.1350C>T; p.N450N; 2:27441147-27441147

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.854A>T; p.Q285L; 2:27437311-27437311

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.661G>A; p.V221M; 2:27435227-27435227

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; NK-T_cell_lymphomaSubstitution - Missense

c.305C>G; p.S102C; 2:27433767-27433767

urinary_tract; bladdercarcinomaSubstitution - Missense

c.344G>A; p.R115H; 2:27433999-27433999

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.921C>T; p.C307C; 2:27439783-27439783

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.133_135delGAA; p.E48delE; 2:27433406-27433408

large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.1554C>T; p.F518F; 2:27441758-27441758

breastcarcinomaSubstitution - coding silent

c.1554C>T; p.F518F; 2:27441758-27441758

large_intestine; rectumNSSubstitution - coding silent

c.1029A>G; p.G343G; 2:27439891-27439891

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.612C>T; p.T204T; 2:27435178-27435178

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1037-1G>A; p.?; 2:27440402-27440402

endometriumcarcinoma; endometrioid_carcinomaUnknown

c.1036C>A; p.H346N; 2:27439898-27439898

skin; extremitymalignant_melanomaSubstitution - Missense

c.1092C>A; p.A364A; 2:27440458-27440458

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.89T>C; p.V30A; 2:27433362-27433362

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1271T>C; p.V424A; 2:27440882-27440882

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1248G>A; p.Q416Q; 2:27440859-27440859

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.392A>C; p.K131T; 2:27434047-27434047

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.32G>A; p.S11N; 2:27433305-27433305

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1295C>T; p.P432L; 2:27440906-27440906

ovarycarcinoma; mucinous_carcinomaSubstitution - Missense

c.1295C>T; p.P432L; 2:27440906-27440906

ovarycarcinoma; mucinous_carcinomaSubstitution - Missense

c.162G>T; p.E54D; 2:27433435-27433435

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.21G>A; p.Q7Q; 2:27433294-27433294

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1232G>A; p.R411Q; 2:27440843-27440843

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.770T>C; p.V257A; 2:27437071-27437071

livercarcinomaSubstitution - Missense

c.22A>T; p.T8S; 2:27433295-27433295

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.537T>C; p.R179R; 2:27434733-27434733

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.17C>T; p.S6F; 2:27433290-27433290

pancreascarcinomaSubstitution - Missense

c.1177T>G; p.F393V; 2:27440686-27440686

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.944G>A; p.R315K; 2:27439806-27439806

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1331T>G; p.V444G; 2:27441128-27441128

breastcarcinomaSubstitution - Missense

c.217C>T; p.Q73*; 2:27433679-27433679

lungcarcinoma; non_small_cell_carcinomaSubstitution - Nonsense

c.217C>T; p.Q73*; 2:27433679-27433679

lungcarcinoma; non_small_cell_carcinomaSubstitution - Nonsense

c.1452G>T; p.E484D; 2:27441571-27441571

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.127C>T; p.P43S; 2:27433400-27433400

skinmalignant_melanomaSubstitution - Missense

c.1562C>T; p.A521V; 2:27441766-27441766

urinary_tract; bladdercarcinomaSubstitution - Missense

c.274G>A; p.V92I; 2:27433736-27433736

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.567-1G>A; p.?; 2:27435132-27435132

breastcarcinomaUnknown

c.703G>T; p.E235*; 2:27436794-27436794

lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1239G>T; p.Q413H; 2:27440850-27440850

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.211G>T; p.V71L; 2:27433673-27433673

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1092C>T; p.A364A; 2:27440458-27440458

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1517G>A; p.R506Q; 2:27441721-27441721

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1517G>A; p.R506Q; 2:27441721-27441721

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1517G>A; p.R506Q; 2:27441721-27441721

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.357T>C; p.D119D; 2:27434012-27434012

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1383C>T; p.H461H; 2:27441180-27441180

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.643C>T; p.L215F; 2:27435209-27435209

pancreascarcinomaSubstitution - Missense

c.813G>A; p.V271V; 2:27437270-27437270

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.496delA; p.K167fs*6; 2:27434531-27434531

stomachadenocarcinomaDeletion - Frameshift

c.494C>T; p.T165I; 2:27434529-27434529

central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.429delG; p.A144fs*15; 2:27434084-27434084

breastcarcinomaDeletion - Frameshift

c.1447+2T>C; p.?; 2:27441332-27441332

stomachcarcinoma; adenocarcinomaUnknown

c.1447+2T>C; p.?; 2:27441332-27441332

oesophagus; lower_thirdcarcinoma; adenocarcinomaUnknown

c.585delC; p.I198fs*6; 2:27435151-27435151

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.585delC; p.I198fs*6; 2:27435151-27435151

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.224A>G; p.N75S; 2:27433686-27433686

urinary_tract; bladdercarcinomaSubstitution - Missense

c.218A>G; p.Q73R; 2:27433680-27433680

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1261A>G; p.T421A; 2:27440872-27440872

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.472C>G; p.L158V; 2:27434507-27434507

breastcarcinomaSubstitution - Missense

c.1561G>A; p.A521T; 2:27441765-27441765

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1183G>C; p.E395Q; 2:27440692-27440692

breastcarcinomaSubstitution - Missense

c.341T>G; p.V114G; 2:27433996-27433996

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1262C>T; p.T421I; 2:27440873-27440873

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1601C>T; p.S534F; 2:27441805-27441805

skinmalignant_melanomaSubstitution - Missense

c.1359G>A; p.S453S; 2:27441156-27441156

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.892C>G; p.P298A; 2:27437349-27437349

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1268C>A; p.P423H; 2:27440879-27440879

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.501G>C; p.K167N; 2:27434536-27434536

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1228C>T; p.P410S; 2:27440839-27440839

upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.738G>T; p.E246D; 2:27436829-27436829

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense


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