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

Basic Information

Gene ID

6125

Name

RPL5

Synonymous

ribosomal protein L5;RPL5;ribosomal protein L5

Definition

60S ribosomal protein L5|protein phosphatase 1, regulatory subunit 135

Position

1p22.1

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

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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

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Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.26.

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.535C>T; p.R179*; 1:92837463-92837463

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Nonsense

c.608A>T; p.N203I; 1:92837536-92837536

 livercarcinomaSubstitution - Missense

c.619T>C; p.Y207H; 1:92837547-92837547

 oesophaguscarcinomaSubstitution - Missense

c.619T>C; p.Y207H; 1:92837547-92837547

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.666G>A; p.Q222Q; 1:92837594-92837594

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.623T>C; p.M208T; 1:92837551-92837551

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.325-1G>C; p.?; 1:92836189-92836189

 central_nervous_system; brainglioma; astrocytoma_Grade_IVUnknown

c.634_634A>GC; p.M212fs*5; 1:92837562-92837562

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaComplex - frameshift

c.290C>G; p.A97G; 1:92834879-92834879

 breastcarcinomaSubstitution - Missense

c.119A>C; p.D40A; 1:92833590-92833590

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.518T>C; p.I173T; 1:92836383-92836383

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.295T>C; p.Y99H; 1:92834884-92834884

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.166_169delACAA; p.N57fs*12; 1:92833637-92833640

 lungcarcinoma; adenocarcinomaDeletion - Frameshift

c.166_169delACAA; p.N57fs*12; 1:92833637-92833640

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.166_169delACAA; p.N57fs*12; 1:92833637-92833640

 breastcarcinomaDeletion - Frameshift

c.229G>A; p.A77T; 1:92834818-92834818

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.774G>T; p.K258N; 1:92840619-92840619

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.774G>T; p.K258N; 1:92840619-92840619

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.13A>T; p.K5*; 1:92833398-92833398

 skinmalignant_melanomaSubstitution - Nonsense

c.189+1G>C; p.?; 1:92833661-92833661

 central_nervous_system; brainglioma; astrocytoma_Grade_IVUnknown

c.104_116del13; p.R35fs*13; 1:92833575-92833587

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaDeletion - Frameshift

c.177_183delTATCATT; p.I60fs*8; 1:92833648-92833654

 breastcarcinomaDeletion - Frameshift

c.795-1G>C; p.?; 1:92841765-92841765

 kidneycarcinoma; clear_cell_renal_cell_carcinomaUnknown

c.877C>T; p.R293W; 1:92841848-92841848

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.461C>T; p.T154I; 1:92836326-92836326

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.706-1G>T; p.?; 1:92840550-92840550

 lung; right_lower_lobecarcinoma; adenocarcinomaUnknown

c.748A>C; p.N250H; 1:92840593-92840593

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.439G>C; p.D147H; 1:92836304-92836304

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.48C>A; p.Y16*; 1:92833433-92833433

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.779A>G; p.E260G; 1:92840624-92840624

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.330C>G; p.L110L; 1:92836195-92836195

 breastcarcinomaSubstitution - coding silent

c.178A>G; p.I60V; 1:92833649-92833649

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.7T>C; p.F3L; 1:92833392-92833392

 skinmalignant_melanomaSubstitution - Missense

c.691G>A; p.V231I; 1:92837619-92837619

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.554C>T; p.S185F; 1:92837482-92837482

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.212G>A; p.G71E; 1:92834801-92834801

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.742C>T; p.R248*; 1:92840587-92840587

 adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningSubstitution - Nonsense

c.269T>C; p.V90A; 1:92834858-92834858

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.529A>G; p.T177A; 1:92837457-92837457

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.527delG; p.S176fs*36; 1:92836392-92836392

 lungcarcinoma; adenocarcinomaDeletion - Frameshift

c.132C>A; p.Y44*; 1:92833603-92833603

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.89A>T; p.Y30F; 1:92833560-92833560

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.21T>C; p.V7V; 1:92833406-92833406

 bone; femurEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.48C>T; p.Y16Y; 1:92833433-92833433

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.11_12insTA; p.K5fs*15; 1:92833396-92833397

 lungcarcinoma; adenocarcinomaInsertion - Frameshift

c.13delA; p.V6fs*13; 1:92833398-92833398

 central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - Frameshift

c.527G>A; p.S176N; 1:92836392-92836392

 skinmalignant_melanomaSubstitution - Missense

c.3+1G>A; p.?; 1:92832118-92832118

 lungcarcinoma; adenocarcinomaUnknown

c.190-1G>A; p.?; 1:92834778-92834778

 urinary_tract; bladdercarcinomaUnknown

c.541C>A; p.P181T; 1:92837469-92837469

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.280A>G; p.N94D; 1:92834869-92834869

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.626G>A; p.R209H; 1:92837554-92837554

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.173G>C; p.R58T; 1:92833644-92833644

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.364C>G; p.Q122E; 1:92836229-92836229

 livercarcinomaSubstitution - Missense

c.160C>T; p.R54C; 1:92833631-92833631

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.160C>T; p.R54C; 1:92833631-92833631

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.188A>G; p.Q63R; 1:92833659-92833659

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.695C>A; p.T232N; 1:92837623-92837623

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.506G>T; p.G169V; 1:92836371-92836371

 skinmalignant_melanomaSubstitution - Missense

c.362G>T; p.G121V; 1:92836227-92836227

 prostatecarcinomaSubstitution - Missense

c.747G>T; p.E249D; 1:92840592-92840592

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.747G>T; p.E249D; 1:92840592-92840592

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.743G>A; p.R248Q; 1:92840588-92840588

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.712G>T; p.E238*; 1:92840557-92840557

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.244G>A; p.E82K; 1:92834833-92834833

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.244G>A; p.E82K; 1:92834833-92834833

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemiaSubstitution - Missense

c.244G>A; p.E82K; 1:92834833-92834833

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.244G>A; p.E82K; 1:92834833-92834833

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.244G>A; p.E82K; 1:92834833-92834833

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.172_173delAG; p.D59fs*53; 1:92833643-92833644

 central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - Frameshift

c.391A>G; p.N131D; 1:92836256-92836256

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.397G>C; p.E133Q; 1:92836262-92836262

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.443C>G; p.A148G; 1:92836308-92836308

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.150G>C; p.R50S; 1:92833621-92833621

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.374T>C; p.V125A; 1:92836239-92836239

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.374T>C; p.V125A; 1:92836239-92836239

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.803G>A; p.R268H; 1:92841774-92841774

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.614C>T; p.A205V; 1:92837542-92837542

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.175_176delGA; p.D59fs*53; 1:92833646-92833647

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaDeletion - Frameshift

c.676T>C; p.Y226H; 1:92837604-92837604

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.676T>C; p.Y226H; 1:92837604-92837604

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

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