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

Basic Information

Gene ID

6117

Name

RPA1

Synonymous

replication protein A1, 70kDa;RPA1;replication protein A1, 70kDa

Definition

MSTP075|RF-A protein 1|RP-A p70|replication factor A protein 1|replication protein A 70 kDa DNA-binding subunit|single-stranded DNA-binding protein

Position

17p13.3

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 0.05.

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.860T>C; p.M287T; 17:1879315-1879315

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.860T>C; p.M287T; 17:1879315-1879315

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.1787C>T; p.P596L; 17:1897111-1897111

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.95C>T; p.P32L; 17:1843930-1843930

 skinmalignant_melanomaSubstitution - Missense

c.455-1G>T; p.?; 17:1875660-1875660

 pancreascarcinomaUnknown

c.1403T>C; p.V468A; 17:1888703-1888703

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1692T>C; p.N564N; 17:1895041-1895041

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1177G>T; p.V393L; 17:1880627-1880627

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.666C>T; p.F222F; 17:1877290-1877290

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.629G>A; p.R210H; 17:1877253-1877253

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1840G>A; p.A614T; 17:1897164-1897164

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.147A>T; p.G49G; 17:1843982-1843982

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1235G>A; p.R412H; 17:1880685-1880685

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.627C>T; p.I209I; 17:1877251-1877251

 breastcarcinomaSubstitution - coding silent

c.1235G>A; p.R412H; 17:1880685-1880685

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1391C>A; p.S464Y; 17:1888691-1888691

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1020A>G; p.E340E; 17:1879627-1879627

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1645G>A; p.E549K; 17:1891926-1891926

 breastcarcinomaSubstitution - Missense

c.177G>A; p.A59A; 17:1844591-1844591

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.575C>T; p.P192L; 17:1875781-1875781

 livercarcinomaSubstitution - Missense

c.575C>T; p.P192L; 17:1875781-1875781

 livercarcinomaSubstitution - Missense

c.1309G>T; p.G437W; 17:1883879-1883879

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.91C>T; p.R31C; 17:1843926-1843926

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.561T>C; p.I187I; 17:1875767-1875767

 pancreascarcinoma; ductal_carcinomaSubstitution - coding silent

c.561T>C; p.I187I; 17:1875767-1875767

 pancreascarcinomaSubstitution - coding silent

c.1157T>C; p.F386S; 17:1880607-1880607

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1157T>C; p.F386S; 17:1880607-1880607

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.817delA; p.N274fs*5; 17:1879272-1879272

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1255G>A; p.G419R; 17:1883825-1883825

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1442G>T; p.C481F; 17:1888742-1888742

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.12A>G; p.Q4Q; 17:1830105-1830105

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.273G>T; p.R91S; 17:1853101-1853101

 pancreascarcinomaSubstitution - Missense

c.273G>T; p.R91S; 17:1853101-1853101

 pancreascarcinomaSubstitution - Missense

c.273G>T; p.R91S; 17:1853101-1853101

 pancreascarcinomaSubstitution - Missense

c.273G>T; p.R91S; 17:1853101-1853101

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.1309G>A; p.G437R; 17:1883879-1883879

 skinmalignant_melanomaSubstitution - Missense

c.449G>A; p.G150E; 17:1872521-1872521

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1746+1G>A; p.?; 17:1895096-1895096

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.1746+1G>A; p.?; 17:1895096-1895096

 central_nervous_system; braingliomaUnknown

c.684C>T; p.D228D; 17:1877308-1877308

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1116A>G; p.R372R; 17:1880566-1880566

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1509C>T; p.C503C; 17:1888809-1888809

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1095T>C; p.A365A; 17:1880545-1880545

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.566G>T; p.S189I; 17:1875772-1875772

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1579C>T; p.Q527*; 17:1891860-1891860

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1667A>C; p.Q556P; 17:1895016-1895016

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.229T>C; p.C77R; 17:1844643-1844643

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1640T>A; p.L547H; 17:1891921-1891921

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.105G>A; p.T35T; 17:1843940-1843940

 thyroidcarcinoma; anaplastic_carcinomaSubstitution - coding silent

c.863C>T; p.P288L; 17:1879318-1879318

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1765G>A; p.A589T; 17:1897089-1897089

 pancreascarcinomaSubstitution - Missense

c.1825_1826insG; p.S609fs*>9; 17:1897149-1897150

 ovarycarcinoma; serous_carcinomaInsertion - Frameshift

c.861G>A; p.M287I; 17:1879316-1879316

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1358T>C; p.L453P; 17:1883928-1883928

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1300G>A; p.G434R; 17:1883870-1883870

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1202C>T; p.A401V; 17:1880652-1880652

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1493A>G; p.Y498C; 17:1888793-1888793

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1507T>C; p.C503R; 17:1888807-1888807

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1158C>T; p.F386F; 17:1880608-1880608

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1400C>G; p.T467R; 17:1888700-1888700

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.215C>A; p.S72Y; 17:1844629-1844629

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1546C>A; p.L516M; 17:1888846-1888846

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.161C>T; p.S54F; 17:1843996-1843996

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1013_1014delAC; p.N338fs*28; 17:1879620-1879621

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaDeletion - Frameshift

c.1145G>A; p.R382Q; 17:1880595-1880595

 skinmalignant_melanomaSubstitution - Missense

c.589T>G; p.W197G; 17:1877213-1877213

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.985G>A; p.A329T; 17:1879592-1879592

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.768T>C; p.Y256Y; 17:1879223-1879223

 prostateadenomaSubstitution - coding silent

c.985G>A; p.A329T; 17:1879592-1879592

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.985G>A; p.A329T; 17:1879592-1879592

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.1523C>A; p.P508H; 17:1888823-1888823

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1749C>T; p.D583D; 17:1897073-1897073

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1122C>T; p.P374P; 17:1880572-1880572

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.79G>T; p.V27F; 17:1842848-1842848

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.79G>T; p.V27F; 17:1842848-1842848

 large_intestine; coloncarcinomaSubstitution - Missense

c.1357C>G; p.L453V; 17:1883927-1883927

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1405G>A; p.V469M; 17:1888705-1888705

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.84+1G>A; p.?; 17:1842854-1842854

 livercarcinomaUnknown

c.1258C>A; p.Q420K; 17:1883828-1883828

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.194T>C; p.L65P; 17:1844608-1844608

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.409G>A; p.A137T; 17:1872481-1872481

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1538G>A; p.R513H; 17:1888838-1888838

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.747T>C; p.I249I; 17:1879049-1879049

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1538G>A; p.R513H; 17:1888838-1888838

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.856G>A; p.V286I; 17:1879311-1879311

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.34-9C>T; p.?; 17:1842794-1842794

 livercarcinomaUnknown

c.113G>T; p.S38I; 17:1843948-1843948

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1252delG; p.E418fs*5; 17:1883822-1883822

 ovarycarcinoma; serous_carcinomaDeletion - Frameshift

c.1605T>C; p.S535S; 17:1891886-1891886

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1144C>A; p.R382R; 17:1880594-1880594

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

')