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

Basic Information

Gene ID

390

Name

RND3

Synonymous

Rho family GTPase 3;RND3;Rho family GTPase 3

Definition

protein MemB|ras homolog gene family, member E|rho-related GTP-binding protein Rho8|rho-related GTP-binding protein RhoE|small GTP binding protein Rho8

Position

2q23.3

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

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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 0.05.

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.629C>T; p.S210L; 2:150470093-150470093

 central_nervous_system; braingliomaSubstitution - Missense

c.214G>T; p.E72*; 2:150486718-150486718

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.126C>G; p.V42V; 2:150487292-150487292

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.349-9delC; p.?; 2:150471770-150471770

 stomachcarcinoma; diffuse_adenocarcinomaUnknown

c.242C>A; p.S81Y; 2:150474981-150474981

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.637G>C; p.A213P; 2:150470085-150470085

 pancreaspancreatic_intraepithelial_neoplasia_(PanIN)Substitution - Missense

c.637G>C; p.A213P; 2:150470085-150470085

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.497C>T; p.A166V; 2:150470225-150470225

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.132C>T; p.A44A; 2:150487286-150487286

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.719G>T; p.S240I; 2:150470003-150470003

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.546G>A; p.S182S; 2:150470176-150470176

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.306T>C; p.F102F; 2:150474917-150474917

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.588A>C; p.A196A; 2:150470134-150470134

 ovaryother; neoplasmSubstitution - coding silent

c.478G>A; p.D160N; 2:150471632-150471632

 prostatecarcinomaSubstitution - Missense

c.574G>A; p.V192I; 2:150470148-150470148

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.144C>T; p.F48F; 2:150487274-150487274

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.194A>T; p.E65V; 2:150486738-150486738

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.284C>T; p.S95L; 2:150474939-150474939

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.284C>T; p.S95L; 2:150474939-150474939

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.284C>T; p.S95L; 2:150474939-150474939

 breastcarcinomaSubstitution - Missense

c.304T>A; p.F102I; 2:150474919-150474919

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.464C>T; p.T155M; 2:150471646-150471646

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.464C>T; p.T155M; 2:150471646-150471646

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.633G>A; p.Q211Q; 2:150470089-150470089

 breastcarcinomaSubstitution - coding silent

c.419G>A; p.R140Q; 2:150471691-150471691

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.71G>A; p.C24Y; 2:150487347-150487347

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.667A>G; p.R223G; 2:150470055-150470055

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.667A>G; p.R223G; 2:150470055-150470055

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.668G>T; p.R223I; 2:150470054-150470054

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.251A>G; p.Y84C; 2:150474972-150474972

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.520T>G; p.Y174D; 2:150470202-150470202

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.473C>T; p.S158F; 2:150471637-150471637

 skinmalignant_melanomaSubstitution - Missense

c.526G>A; p.E176K; 2:150470196-150470196

 breastcarcinomaSubstitution - Missense

c.28T>G; p.L10V; 2:150487390-150487390

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.347delA; p.K116fs*31; 2:150474876-150474876

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.194A>G; p.E65G; 2:150486738-150486738

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.194A>G; p.E65G; 2:150486738-150486738

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.693_694GG>TT; p.D232Y; 2:150470028-150470029

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.44T>G; p.I15S; 2:150487374-150487374

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.228G>T; p.W76C; 2:150486704-150486704

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.638C>T; p.A213V; 2:150470084-150470084

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.614T>G; p.V205G; 2:150470108-150470108

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.646C>T; p.R216W; 2:150470076-150470076

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.570T>C; p.F190F; 2:150470152-150470152

 skinmalignant_melanomaSubstitution - coding silent

c.415C>A; p.L139M; 2:150471695-150471695

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.681G>A; p.S227S; 2:150470041-150470041

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.697T>G; p.L233V; 2:150470025-150470025

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.199G>A; p.D67N; 2:150486733-150486733

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.388delA; p.M130fs*17; 2:150471722-150471722

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.419G>T; p.R140L; 2:150471691-150471691

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.198C>T; p.I66I; 2:150486734-150486734

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.198C>T; p.I66I; 2:150486734-150486734

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.555C>T; p.S185S; 2:150470167-150470167

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.377C>T; p.P126L; 2:150471733-150471733

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.268C>A; p.L90I; 2:150474955-150474955

 breastcarcinomaSubstitution - Missense

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