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

Basic Information

Gene ID

8635

Name

RNASET2

Synonymous

ribonuclease T2;RNASET2;ribonuclease T2

Definition

ribonuclease 6

Position

6q27

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 0.07.

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.614A>C; p.K205T; 6:166929745-166929745

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.447-1G>A; p.?; 6:166934137-166934137

 large_intestine; caecumcarcinoma; adenocarcinomaUnknown

c.175C>T; p.P59S; 6:166948598-166948598

 skinmalignant_melanomaSubstitution - Missense

c.649G>A; p.G217R; 6:166929710-166929710

 skinmalignant_melanomaSubstitution - Missense

c.705_718del14; p.R236fs*2; 6:166929641-166929654

 stomachcarcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiableDeletion - Frameshift

c.621C>T; p.D207D; 6:166929738-166929738

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.770G>C; p.*257S; 6:166929589-166929589

 lungcarcinoma; adenocarcinomaNonstop extension

c.380C>T; p.A127V; 6:166938961-166938961

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.380C>T; p.A127V; 6:166938961-166938961

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.255G>T; p.E85D; 6:166946688-166946688

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.747C>T; p.P249P; 6:166929612-166929612

 skinmalignant_melanomaSubstitution - coding silent

c.446+8C>T; p.?; 6:166938887-166938887

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.598G>A; p.E200K; 6:166929761-166929761

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.402C>T; p.Y134Y; 6:166938939-166938939

 skinmalignant_melanomaSubstitution - coding silent

c.641C>T; p.T214I; 6:166929718-166929718

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.390C>T; p.S130S; 6:166938951-166938951

 skinmalignant_melanomaSubstitution - coding silent

c.593A>G; p.Q198R; 6:166929766-166929766

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.518C>T; p.A173V; 6:166931093-166931093

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.567+1G>T; p.?; 6:166931043-166931043

 lungcarcinoma; adenocarcinomaUnknown

c.21C>T; p.R7R; 6:166956162-166956162

 breastcarcinomaSubstitution - coding silent

c.599A>C; p.E200A; 6:166929760-166929760

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.204G>A; p.W68*; 6:166946739-166946739

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.145G>A; p.E49K; 6:166952490-166952490

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.145G>A; p.E49K; 6:166952490-166952490

 stomachadenocarcinomaSubstitution - Missense

c.517G>A; p.A173T; 6:166931094-166931094

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.364G>A; p.A122T; 6:166938977-166938977

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.387C>A; p.N129K; 6:166938954-166938954

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Missense

c.707G>A; p.R236Q; 6:166929652-166929652

 meningesmeningioma; secretorySubstitution - Missense

c.338A>T; p.H113L; 6:166939003-166939003

 bone; fibulaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.231A>T; p.R77S; 6:166946712-166946712

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.231A>T; p.R77S; 6:166946712-166946712

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.450G>A; p.V150V; 6:166934133-166934133

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.663C>T; p.S221S; 6:166929696-166929696

 skinmalignant_melanomaSubstitution - coding silent

c.706C>T; p.R236W; 6:166929653-166929653

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.706C>T; p.R236W; 6:166929653-166929653

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.516T>C; p.L172L; 6:166931095-166931095

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.372G>A; p.Q124Q; 6:166938969-166938969

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.97G>A; p.E33K; 6:166952538-166952538

 breastcarcinomaSubstitution - Missense

c.482A>G; p.N161S; 6:166934101-166934101

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.418G>A; p.E140K; 6:166938923-166938923

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.508G>T; p.D170Y; 6:166931103-166931103

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

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