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

Basic Information

Gene ID

8572

Name

PDLIM4

Synonymous

PDZ and LIM domain 4;PDLIM4;PDZ and LIM domain 4

Definition

LIM domain protein|LIM protein RIL|PDZ and LIM domain protein 4|enigma homolog|reversion-induced LIM protein

Position

5q31.1

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

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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 0.24.

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.735G>A; p.P245P; 5:132271855-132271855

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.735G>A; p.P245P; 5:132271855-132271855

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.932A>T; p.K311M; 5:132272168-132272168

 breastcarcinomaSubstitution - Missense

c.735G>A; p.P245P; 5:132271855-132271855

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.735G>A; p.P245P; 5:132271855-132271855

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.454G>A; p.E152K; 5:132271041-132271041

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.412G>C; p.G138R; 5:132270999-132270999

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.413G>A; p.G138E; 5:132271000-132271000

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.13G>A; p.V5M; 5:132257747-132257747

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.852C>T; p.C284C; 5:132272088-132272088

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.341C>A; p.T114K; 5:132270928-132270928

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.930G>A; p.V310V; 5:132272166-132272166

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.425G>A; p.R142H; 5:132271012-132271012

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.76C>T; p.P26S; 5:132257810-132257810

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.541G>C; p.D181H; 5:132271337-132271337

 skinmalignant_melanomaSubstitution - Missense

c.660C>T; p.A220A; 5:132271456-132271456

 skinmalignant_melanomaSubstitution - coding silent

c.219C>T; p.H73H; 5:132262734-132262734

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.400G>T; p.G134*; 5:132270987-132270987

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.829G>A; p.E277K; 5:132272065-132272065

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.564C>G; p.S188S; 5:132271360-132271360

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.563C>T; p.S188F; 5:132271359-132271359

 skinmalignant_melanomaSubstitution - Missense

c.406delC; p.P136fs*24; 5:132270993-132270993

 ovarycarcinoma; serous_carcinomaDeletion - Frameshift

c.713C>T; p.T238M; 5:132271833-132271833

 pancreascarcinomaSubstitution - Missense

c.529_530CC>TT; p.P177L; 5:132271325-132271326

 skinmalignant_melanomaSubstitution - Missense

c.669C>T; p.G223G; 5:132271465-132271465

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.245G>C; p.R82T; 5:132262760-132262760

 breastcarcinomaSubstitution - Missense

c.300C>T; p.H100H; 5:132266518-132266518

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.730G>C; p.A244P; 5:132271850-132271850

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.401G>C; p.G134A; 5:132270988-132270988

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.469G>C; p.A157P; 5:132271056-132271056

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.775G>T; p.G259C; 5:132271895-132271895

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.600C>G; p.P200P; 5:132271396-132271396

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.775G>T; p.G259C; 5:132271895-132271895

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.775G>T; p.G259C; 5:132271895-132271895

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.600C>G; p.P200P; 5:132271396-132271396

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.600C>T; p.P200P; 5:132271396-132271396

 skinmalignant_melanomaSubstitution - coding silent

c.376C>T; p.P126S; 5:132270963-132270963

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.892G>T; p.E298*; 5:132272128-132272128

 adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningSubstitution - Nonsense

c.924G>A; p.A308A; 5:132272160-132272160

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.681C>T; p.P227P; 5:132271801-132271801

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.924G>A; p.A308A; 5:132272160-132272160

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.897G>A; p.R299R; 5:132272133-132272133

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.680C>T; p.P227L; 5:132271800-132271800

 skinmalignant_melanomaSubstitution - Missense

c.499delC; p.S169fs*50; 5:132271086-132271086

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.579G>T; p.M193I; 5:132271375-132271375

 adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningSubstitution - Missense

c.729C>T; p.G243G; 5:132271849-132271849

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.96C>T; p.V32V; 5:132262611-132262611

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.348C>T; p.S116S; 5:132270935-132270935

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.792C>T; p.G264G; 5:132272028-132272028

 thyroidother; neoplasmSubstitution - coding silent

c.792C>T; p.G264G; 5:132272028-132272028

 breastcarcinomaSubstitution - coding silent

c.923C>A; p.A308E; 5:132272159-132272159

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.678G>A; p.W226*; 5:132271798-132271798

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.868C>T; p.Q290*; 5:132272104-132272104

 pancreascarcinoma; ductal_carcinomaSubstitution - Nonsense

c.406C>T; p.P136S; 5:132270993-132270993

 skinmalignant_melanomaSubstitution - Missense

c.346A>T; p.S116C; 5:132270933-132270933

 lungcarcinoma; adenocarcinomaSubstitution - Missense

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