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

Basic Information

Gene ID

57727

Name

NCOA5

Synonymous

nuclear receptor coactivator 5;NCOA5;nuclear receptor coactivator 5

Definition

NCoA-5|coactivator independent of AF-2

Position

20q13.12

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.184G>C; p.D62H; 20:46070391-46070391

kidneyother; neoplasmSubstitution - Missense

c.607A>G; p.I203V; 20:46067077-46067077

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.181C>T; p.R61W; 20:46070394-46070394

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.290G>A; p.R97K; 20:46070285-46070285

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.8C>T; p.T3M; 20:46079417-46079417

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.523C>T; p.R175W; 20:46067161-46067161

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.460G>T; p.G154*; 20:46068544-46068544

skin; earcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1118G>T; p.R373L; 20:46063392-46063392

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1179G>A; p.A393A; 20:46062861-46062861

stomachcarcinoma; diffuse_adenocarcinomaSubstitution - coding silent

c.1358C>T; p.P453L; 20:46062682-46062682

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.936G>T; p.Q312H; 20:46063574-46063574

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1546C>T; p.L516L; 20:46062494-46062494

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.355C>T; p.P119S; 20:46070220-46070220

skinmalignant_melanomaSubstitution - Missense

c.244C>T; p.R82W; 20:46070331-46070331

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.35G>A; p.R12Q; 20:46079390-46079390

breastcarcinomaSubstitution - Missense

c.35G>A; p.R12Q; 20:46079390-46079390

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.462A>G; p.G154G; 20:46068542-46068542

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1367C>T; p.A456V; 20:46062673-46062673

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1150G>T; p.G384C; 20:46063360-46063360

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.233T>C; p.V78A; 20:46070342-46070342

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1174G>T; p.G392W; 20:46062866-46062866

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.291G>A; p.R97R; 20:46070284-46070284

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1257C>A; p.P419P; 20:46062783-46062783

thyroidother; neoplasmSubstitution - coding silent

c.556G>C; p.E186Q; 20:46067128-46067128

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.556G>C; p.E186Q; 20:46067128-46067128

lungcarcinoma; bronchioloalveolar_adenocarcinomaSubstitution - Missense

c.629+4A>G; p.?; 20:46067051-46067051

livercarcinomaUnknown

c.1656T>G; p.P552P; 20:46062384-46062384

skinmalignant_melanomaSubstitution - coding silent

c.875G>A; p.R292K; 20:46063635-46063635

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.544C>T; p.R182C; 20:46067140-46067140

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.544C>T; p.R182C; 20:46067140-46067140

skinmalignant_melanomaSubstitution - Missense

c.1434G>T; p.Q478H; 20:46062606-46062606

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1136C>T; p.T379I; 20:46063374-46063374

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.961A>G; p.I321V; 20:46063549-46063549

oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1138G>A; p.D380N; 20:46063372-46063372

livercarcinomaSubstitution - Missense

c.752C>T; p.P251L; 20:46065106-46065106

skinmalignant_melanomaSubstitution - Missense

c.1138G>A; p.D380N; 20:46063372-46063372

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1138G>A; p.D380N; 20:46063372-46063372

livercarcinomaSubstitution - Missense

c.269_270delTT; p.F90fs*2; 20:46070305-46070306

endometriumcarcinoma; endometrioid_carcinomaDeletion - Frameshift

c.1004G>A; p.R335H; 20:46063506-46063506

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1004G>A; p.R335H; 20:46063506-46063506

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1359delC; p.S454fs*69; 20:46062681-46062681

pancreascarcinoma; acinar_carcinomaDeletion - Frameshift

c.1359delC; p.S454fs*69; 20:46062681-46062681

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.576T>G; p.F192L; 20:46067108-46067108

breastcarcinomaSubstitution - Missense

c.1682C>T; p.T561I; 20:46062358-46062358

skinmalignant_melanomaSubstitution - Missense

c.1022C>T; p.A341V; 20:46063488-46063488

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1397C>T; p.S466F; 20:46062643-46062643

skinmalignant_melanomaSubstitution - Missense

c.1332G>C; p.V444V; 20:46062708-46062708

oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.1525T>G; p.F509V; 20:46062515-46062515

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.82C>T; p.R28*; 20:46070493-46070493

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Nonsense

c.82C>T; p.R28*; 20:46070493-46070493

stomachadenocarcinomaSubstitution - Nonsense

c.1712C>T; p.P571L; 20:46062328-46062328

skinmalignant_melanomaSubstitution - Missense

c.1258A>T; p.T420S; 20:46062782-46062782

thyroidother; neoplasmSubstitution - Missense

c.1606G>C; p.D536H; 20:46062434-46062434

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1162C>T; p.R388C; 20:46062878-46062878

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.238G>T; p.D80Y; 20:46070337-46070337

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1427G>C; p.R476T; 20:46062613-46062613

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1362G>A; p.S454S; 20:46062678-46062678

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.95G>A; p.R32Q; 20:46070480-46070480

pancreascarcinomaSubstitution - Missense

c.95G>A; p.R32Q; 20:46070480-46070480

pancreascarcinomaSubstitution - Missense

c.904C>T; p.R302W; 20:46063606-46063606

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.290G>T; p.R97M; 20:46070285-46070285

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1117C>A; p.R373R; 20:46063393-46063393

oesophaguscarcinomaSubstitution - coding silent

c.642G>C; p.E214D; 20:46065216-46065216

breastcarcinomaSubstitution - Missense

c.64C>T; p.R22*; 20:46070511-46070511

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1240C>T; p.L414F; 20:46062800-46062800

large_intestine; colonadenomaSubstitution - Missense

c.650G>T; p.G217V; 20:46065208-46065208

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.959C>T; p.A320V; 20:46063551-46063551

skinmalignant_melanomaSubstitution - Missense

c.583G>A; p.E195K; 20:46067101-46067101

breastcarcinomaSubstitution - Missense

c.250G>A; p.V84M; 20:46070325-46070325

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.788A>T; p.H263L; 20:46065070-46065070

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1297G>A; p.A433T; 20:46062743-46062743

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.610G>A; p.V204M; 20:46067074-46067074

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.395G>A; p.R132Q; 20:46068609-46068609

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.514C>T; p.R172C; 20:46067170-46067170

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.629A>G; p.K210R; 20:46067055-46067055

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.474A>T; p.P158P; 20:46068530-46068530

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.506G>A; p.R169H; 20:46067178-46067178

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1163G>T; p.R388L; 20:46062877-46062877

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.208C>T; p.R70W; 20:46070367-46070367

urinary_tract; bladdercarcinomaSubstitution - Missense

c.298C>T; p.R100*; 20:46070277-46070277

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1242C>T; p.L414L; 20:46062798-46062798

skinmalignant_melanomaSubstitution - coding silent

c.570A>G; p.R190R; 20:46067114-46067114

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.437A>T; p.D146V; 20:46068567-46068567

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.94C>T; p.R32*; 20:46070481-46070481

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1335G>T; p.T445T; 20:46062705-46062705

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.719A>G; p.Q240R; 20:46065139-46065139

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.4A>C; p.N2H; 20:46079421-46079421

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1357C>T; p.P453S; 20:46062683-46062683

skinmalignant_melanomaSubstitution - Missense

c.991G>A; p.E331K; 20:46063519-46063519

urinary_tract; bladdercarcinomaSubstitution - Missense

c.785T>C; p.I262T; 20:46065073-46065073

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1612C>T; p.P538S; 20:46062428-46062428

skinmalignant_melanomaSubstitution - Missense

c.1359C>T; p.P453P; 20:46062681-46062681

breastcarcinomaSubstitution - coding silent

c.1037T>C; p.I346T; 20:46063473-46063473

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.38+6G>A; p.?; 20:46079381-46079381

pancreascarcinomaUnknown

c.703G>C; p.E235Q; 20:46065155-46065155

breastcarcinomaSubstitution - Missense

c.1035C>T; p.L345L; 20:46063475-46063475

breastcarcinomaSubstitution - coding silent

c.963C>T; p.I321I; 20:46063547-46063547

skinmalignant_melanomaSubstitution - coding silent

c.1528G>T; p.G510C; 20:46062512-46062512

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.963C>T; p.I321I; 20:46063547-46063547

skinmalignant_melanomaSubstitution - coding silent

c.1018C>T; p.P340S; 20:46063492-46063492

livercarcinomaSubstitution - Missense

c.1018C>T; p.P340S; 20:46063492-46063492

livercarcinomaSubstitution - Missense

c.587G>A; p.R196K; 20:46067097-46067097

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.330C>T; p.Y110Y; 20:46070245-46070245

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1589C>G; p.S530C; 20:46062451-46062451

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1732C>T; p.H578Y; 20:46062308-46062308

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1633G>C; p.D545H; 20:46062407-46062407

breastcarcinomaSubstitution - Missense

c.238G>A; p.D80N; 20:46070337-46070337

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1102C>T; p.R368*; 20:46063408-46063408

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Nonsense

c.238G>A; p.D80N; 20:46070337-46070337

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1329A>C; p.T443T; 20:46062711-46062711

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1275delC; p.T426fs*19; 20:46062765-46062765

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.193C>T; p.H65Y; 20:46070382-46070382

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1275delC; p.T426fs*19; 20:46062765-46062765

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1275delC; p.T426fs*19; 20:46062765-46062765

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.186C>T; p.D62D; 20:46070389-46070389

skinmalignant_melanomaSubstitution - coding silent

c.1261C>A; p.P421T; 20:46062779-46062779

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.7A>G; p.T3A; 20:46079418-46079418

skinmalignant_melanomaSubstitution - Missense

c.1678C>G; p.Q560E; 20:46062362-46062362

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense


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