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

Basic Information

Gene ID

7538

Name

ZFP36

Synonymous

ZFP36 ring finger protein;ZFP36;ZFP36 ring finger protein

Definition

G0/G1 switch regulatory protein 24|growth factor-inducible nuclear protein NUP475|tristetraprolin|tristetraproline|zinc finger protein 36 homolog|zinc finger protein 36, C3H type, homolog|zinc finger protein, C3H type, 36 homolog

Position

19q13.1

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 0.12.

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.102C>T; p.S34S; 19:39407820-39407820

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.973T>C; p.S325P; 19:39408691-39408691

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.15C>T; p.A5A; 19:39406919-39406919

 pancreasNSSubstitution - coding silent

c.730G>T; p.D244Y; 19:39408448-39408448

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.97G>A; p.G33S; 19:39407815-39407815

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.525G>A; p.P175P; 19:39408243-39408243

 thyroidcarcinomaSubstitution - coding silent

c.27C>T; p.S9S; 19:39407745-39407745

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.751_752CC>TT; p.P251F; 19:39408469-39408470

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.49G>T; p.V17L; 19:39407767-39407767

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.429G>A; p.K143K; 19:39408147-39408147

 bone; tibiaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.857G>A; p.S286N; 19:39408575-39408575

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.25-1G>T; p.?; 19:39407742-39407742

 lungcarcinoma; adenocarcinomaUnknown

c.976G>A; p.E326K; 19:39408694-39408694

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.972T>G; p.V324V; 19:39408690-39408690

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.844G>A; p.D282N; 19:39408562-39408562

 breastcarcinomaSubstitution - Missense

c.696C>A; p.F232L; 19:39408414-39408414

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.431C>G; p.T144R; 19:39408149-39408149

 thyroidcarcinomaSubstitution - Missense

c.617C>T; p.P206L; 19:39408335-39408335

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.974C>A; p.S325Y; 19:39408692-39408692

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.535C>T; p.P179S; 19:39408253-39408253

 breastcarcinomaSubstitution - Missense

c.591A>G; p.S197S; 19:39408309-39408309

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.189delG; p.G64fs*>263; 19:39407907-39407907

 pancreascarcinomaDeletion - Frameshift

c.172T>A; p.S58T; 19:39407890-39407890

 skinmalignant_melanomaSubstitution - Missense

c.516G>A; p.L172L; 19:39408234-39408234

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.181C>A; p.L61I; 19:39407899-39407899

 breastcarcinomaSubstitution - Missense

c.971T>A; p.V324D; 19:39408689-39408689

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.62C>A; p.S21Y; 19:39407780-39407780

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.35C>A; p.S12*; 19:39407753-39407753

 ovaryother; neoplasmSubstitution - Nonsense

c.511G>T; p.D171Y; 19:39408229-39408229

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.14C>T; p.A5V; 19:39406918-39406918

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.225C>T; p.G75G; 19:39407943-39407943

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.651C>G; p.S217R; 19:39408369-39408369

 breastcarcinomaSubstitution - Missense

c.713delC; p.L240fs*>87; 19:39408431-39408431

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.98G>A; p.G33D; 19:39407816-39407816

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.713delC; p.L240fs*>87; 19:39408431-39408431

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.660A>G; p.P220P; 19:39408378-39408378

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.660A>G; p.P220P; 19:39408378-39408378

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.566G>A; p.G189D; 19:39408284-39408284

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.405G>A; p.Q135Q; 19:39408123-39408123

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.975T>A; p.S325S; 19:39408693-39408693

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.590_592delCAC; p.P201delP; 19:39408308-39408310

 large_intestine; rectumcarcinoma; adenocarcinomaDeletion - In frame

c.45T>C; p.P15P; 19:39407763-39407763

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.590_592delCAC; p.P201delP; 19:39408308-39408310

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - In frame

c.590_592delCAC; p.P201delP; 19:39408308-39408310

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.590_592delCAC; p.P201delP; 19:39408308-39408310

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - In frame

c.413G>A; p.R138H; 19:39408131-39408131

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.238G>T; p.A80S; 19:39407956-39407956

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.13G>T; p.A5S; 19:39406917-39406917

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.400C>T; p.R134C; 19:39408118-39408118

 pancreascarcinomaSubstitution - Missense

c.739C>A; p.P247T; 19:39408457-39408457

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.739C>A; p.P247T; 19:39408457-39408457

 large_intestine; coloncarcinomaSubstitution - Missense

c.804G>C; p.L268L; 19:39408522-39408522

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.130G>T; p.D44Y; 19:39407848-39407848

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.544C>T; p.R182C; 19:39408262-39408262

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.30C>A; p.L10L; 19:39407748-39407748

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.865A>T; p.S289C; 19:39408583-39408583

 oesophaguscarcinomaSubstitution - Missense

c.908T>G; p.V303G; 19:39408626-39408626

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.847G>T; p.E283*; 19:39408565-39408565

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

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