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

Basic Information

Gene ID

6050

Name

RNH1

Synonymous

ribonuclease/angiogenin inhibitor 1;RNH1;ribonuclease/angiogenin inhibitor 1

Definition

placental RNase inhibitor|placental ribonuclease inhibitor|ribonuclease inhibitor

Position

11p15.5

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

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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 0.15.

The copy number variations for various cancers

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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.190C>T; p.R64C; 11:500566-500566

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.104T>C; p.L35P; 11:500652-500652

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.660C>G; p.C220W; 11:498888-498888

 ovarycarcinomaSubstitution - Missense

c.134G>A; p.C45Y; 11:500622-500622

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.363C>T; p.S121S; 11:499909-499909

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.557G>A; p.G186D; 11:499072-499072

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.570G>A; p.L190L; 11:499059-499059

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1071C>T; p.G357G; 11:498027-498027

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1071C>T; p.G357G; 11:498027-498027

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1072G>A; p.V358M; 11:498026-498026

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1202G>C; p.R401P; 11:494979-494979

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.216C>T; p.G72G; 11:500540-500540

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.383C>T; p.A128V; 11:499889-499889

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.130C>A; p.R44R; 11:500626-500626

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.415G>T; p.D139Y; 11:499857-499857

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.298_299insG; p.A100fs*79; 11:499973-499974

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.575A>G; p.Q192R; 11:499054-499054

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1281C>T; p.C427C; 11:494900-494900

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.563G>A; p.R188H; 11:499066-499066

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.563G>A; p.R188H; 11:499066-499066

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.27C>T; p.D9D; 11:502136-502136

 breastcarcinomaSubstitution - coding silent

c.934G>T; p.G312C; 11:498479-498479

 livercarcinomaSubstitution - Missense

c.1349T>C; p.L450P; 11:494728-494728

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.950C>T; p.S317L; 11:498463-498463

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.707G>T; p.S236I; 11:498841-498841

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1354_1356delAAG; p.K452delK; 11:494721-494723

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.623G>T; p.S208I; 11:498925-498925

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.464C>T; p.S155L; 11:499165-499165

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.628G>A; p.G210S; 11:498920-498920

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1341G>A; p.L447L; 11:494736-494736

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1267C>T; p.R423W; 11:494914-494914

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.498C>G; p.L166L; 11:499131-499131

 breastcarcinomaSubstitution - coding silent

c.1007T>A; p.V336E; 11:498091-498091

 skinmalignant_melanomaSubstitution - Missense

c.1351G>C; p.E451Q; 11:494726-494726

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.64G>A; p.E22K; 11:502099-502099

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.966C>A; p.S322S; 11:498132-498132

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.19_33del15; p.S7_Q11delSLDIQ; 11:502130-502144

 endometriumcarcinoma; endometrioid_carcinomaDeletion - In frame

c.988T>C; p.C330R; 11:498110-498110

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.249delC; p.S84fs*7; 11:500507-500507

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.329G>A; p.R110H; 11:499943-499943

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.804C>T; p.I268I; 11:498609-498609

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.67C>T; p.L23F; 11:502096-502096

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.131G>A; p.R44Q; 11:500625-500625

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1273C>T; p.P425S; 11:494908-494908

 prostatecarcinomaSubstitution - Missense

c.64G>C; p.E22Q; 11:502099-502099

 skinmalignant_melanomaSubstitution - Missense

c.1239C>G; p.A413A; 11:494942-494942

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.694C>T; p.L232L; 11:498854-498854

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.11A>T; p.D4V; 11:502152-502152

 livercarcinomaSubstitution - Missense

c.11A>T; p.D4V; 11:502152-502152

 livercarcinomaSubstitution - Missense

c.609G>A; p.A203A; 11:499020-499020

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.981C>T; p.A327A; 11:498117-498117

 pancreascarcinomaSubstitution - coding silent

c.776G>T; p.R259M; 11:498772-498772

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1369C>A; p.L457M; 11:494708-494708

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.122C>T; p.T41M; 11:500634-500634

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.361A>G; p.S121G; 11:499911-499911

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1368C>T; p.S456S; 11:494709-494709

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1228C>T; p.L410L; 11:494953-494953

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.84G>A; p.Q28Q; 11:502079-502079

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.838C>A; p.L280I; 11:498575-498575

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.31C>T; p.Q11*; 11:502132-502132

 skinmalignant_melanomaSubstitution - Nonsense

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