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

Basic Information

Gene ID

678

Name

ZFP36L2

Synonymous

ZFP36 ring finger protein-like 2;ZFP36L2;ZFP36 ring finger protein-like 2

Definition

EGF-response factor 2|ZFP36-like 2|butyrate response factor 2|zinc finger protein 36, C3H type-like 1|zinc finger protein 36, C3H type-like 2|zinc finger protein 36, C3H1 type-like 2|zinc finger protein, C3H type, 36-like 2

Position

2p22.3-p21

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

Top

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

Top

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

Top

Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.42.

The copy number variations for various cancers

Top

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.528C>A; p.F176L; 2:43225276-43225276

central_nervous_system; brainglioma; oligodendroglioma_Grade_IIISubstitution - Missense

c.875C>T; p.S292F; 2:43224929-43224929

skinmalignant_melanomaSubstitution - Missense

c.222C>A; p.C74*; 2:43225582-43225582

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.303_304insT; p.K102fs*1; 2:43225500-43225501

endometriumcarcinoma; endometrioid_carcinomaInsertion - Frameshift

c.910T>G; p.S304A; 2:43224894-43224894

livercarcinomaSubstitution - Missense

c.910T>G; p.S304A; 2:43224894-43224894

livercarcinomaSubstitution - Missense

c.910T>G; p.S304A; 2:43224894-43224894

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.910T>G; p.S304A; 2:43224894-43224894

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.910T>G; p.S304A; 2:43224894-43224894

livercarcinomaSubstitution - Missense

c.868C>T; p.P290S; 2:43224936-43224936

pancreascarcinomaSubstitution - Missense

c.1070C>T; p.S357L; 2:43224734-43224734

urinary_tract; bladdercarcinomaSubstitution - Missense

c.305_306insA; p.E103fs*23; 2:43225498-43225499

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.307_308insG; p.E103fs*23; 2:43225496-43225497

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.145_146insG; p.A49fs*35; 2:43225658-43225659

large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.181_182insT; p.H62fs*22; 2:43225622-43225623

oesophaguscarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.503_504insG; p.C168fs*306; 2:43225300-43225301

large_intestine; rectumcarcinoma; adenocarcinomaInsertion - Frameshift

c.907G>T; p.A303S; 2:43224897-43224897

livercarcinomaSubstitution - Missense

c.907G>T; p.A303S; 2:43224897-43224897

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.899C>G; p.S300C; 2:43224905-43224905

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.711C>G; p.G237G; 2:43225093-43225093

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.511G>T; p.G171C; 2:43225293-43225293

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.382G>A; p.G128S; 2:43225422-43225422

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.544G>A; p.E182K; 2:43225260-43225260

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.775A>G; p.S259G; 2:43225029-43225029

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1483T>A; p.*495R; 2:43224321-43224321

skinmalignant_melanomaNonstop extension

c.381_382delCG; p.N127fs*346; 2:43225422-43225423

kidneycarcinoma; clear_cell_renal_cell_carcinomaDeletion - Frameshift

c.21C>T; p.S7S; 2:43226295-43226295

breastcarcinomaSubstitution - coding silent

c.281_282insG; p.P95fs*8; 2:43225522-43225523

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1463G>T; p.R488L; 2:43224341-43224341

ovaryother; neoplasmSubstitution - Missense

c.482C>G; p.P161R; 2:43225322-43225322

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.372delT; p.F124fs*63; 2:43225432-43225432

peritoneum; appendixother; pseudomyxoma_peritoneiDeletion - Frameshift

c.469G>C; p.E157Q; 2:43225335-43225335

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.773T>C; p.L258P; 2:43225031-43225031

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.378G>A; p.E126E; 2:43225426-43225426

ovaryother; neoplasmSubstitution - coding silent

c.442C>T; p.Q148*; 2:43225362-43225362

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.677C>T; p.S226L; 2:43225127-43225127

skinmalignant_melanomaSubstitution - Missense

c.203C>T; p.A68V; 2:43225601-43225601

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.600_601insT; p.H201fs*273; 2:43225203-43225204

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.670G>A; p.A224T; 2:43225134-43225134

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.670G>A; p.A224T; 2:43225134-43225134

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.820C>T; p.L274F; 2:43224984-43224984

thyroidcarcinomaSubstitution - Missense

c.1450C>T; p.P484S; 2:43224354-43224354

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.683_684insG; p.A229fs*245; 2:43225120-43225121

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.683delG; p.G228fs*233; 2:43225121-43225121

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.503G>A; p.C168Y; 2:43225301-43225301

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.410_411insT; p.Q138fs*336; 2:43225393-43225394

large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.5C>G; p.S2W; 2:43226311-43226311

breastcarcinomaSubstitution - Missense

c.478_479insC; p.R160fs*314; 2:43225325-43225326

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.478_479insC; p.R160fs*314; 2:43225325-43225326

large_intestine; rectumcarcinoma; adenocarcinomaInsertion - Frameshift

c.88A>G; p.M30V; 2:43225716-43225716

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.478_479insC; p.R160fs*314; 2:43225325-43225326

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.464A>G; p.K155R; 2:43225340-43225340

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.464A>G; p.K155R; 2:43225340-43225340

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.465G>C; p.K155N; 2:43225339-43225339

urinary_tract; bladdercarcinomaSubstitution - Missense

c.465G>C; p.K155N; 2:43225339-43225339

breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.760T>G; p.L254V; 2:43225044-43225044

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.453delC; p.T152fs*35; 2:43225351-43225351

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1389C>T; p.S463S; 2:43224415-43224415

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.469G>A; p.E157K; 2:43225335-43225335

breastcarcinomaSubstitution - Missense

c.469G>A; p.E157K; 2:43225335-43225335

urinary_tract; bladdercarcinomaSubstitution - Missense

c.632G>A; p.R211H; 2:43225172-43225172

kidneyother; neoplasmSubstitution - Missense

c.632G>A; p.R211H; 2:43225172-43225172

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.473T>C; p.L158P; 2:43225331-43225331

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.434_435insG; p.G146fs*328; 2:43225369-43225370

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1433A>C; p.D478A; 2:43224371-43224371

pancreascarcinomaSubstitution - Missense

c.1349delC; p.P450fs*11; 2:43224455-43224455

oesophaguscarcinoma; adenocarcinomaDeletion - Frameshift

c.484_485insCGGCCCT; p.F162fs*314; 2:43225319-43225320

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1042delG; p.A348fs*113; 2:43224762-43224762

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.46T>G; p.C16G; 2:43226270-43226270

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1120_1121insA; p.T374fs*100; 2:43224683-43224684

large_intestine; rectumcarcinoma; adenocarcinomaInsertion - Frameshift

c.718G>A; p.D240N; 2:43225086-43225086

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.718G>A; p.D240N; 2:43225086-43225086

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.514G>T; p.E172*; 2:43225290-43225290

skinmalignant_melanomaSubstitution - Nonsense

c.264C>T; p.G88G; 2:43225540-43225540

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.432_433insG; p.G146fs*328; 2:43225371-43225372

skin; head_neckcarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.432_433insG; p.G146fs*328; 2:43225371-43225372

stomachcarcinoma; intestinal_adenocarcinomaInsertion - Frameshift

c.336_337insCT; p.N114fs*74; 2:43225467-43225468

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaInsertion - Frameshift

c.376G>C; p.E126Q; 2:43225428-43225428

breastcarcinomaSubstitution - Missense

c.54A>T; p.T18T; 2:43225750-43225750

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1125G>C; p.P375P; 2:43224679-43224679

upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.462C>A; p.Y154*; 2:43225342-43225342

pancreascarcinomaSubstitution - Nonsense

c.431delG; p.G144fs*43; 2:43225373-43225373

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.431delG; p.G144fs*43; 2:43225373-43225373

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.431delG; p.G144fs*43; 2:43225373-43225373

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.431delG; p.G144fs*43; 2:43225373-43225373

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.431delG; p.G144fs*43; 2:43225373-43225373

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.431delG; p.G144fs*43; 2:43225373-43225373

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.832C>T; p.L278L; 2:43224972-43224972

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1375T>C; p.Y459H; 2:43224429-43224429

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.198_208del11; p.H66fs*14; 2:43225596-43225606

peritoneum; appendixother; pseudomyxoma_peritoneiDeletion - Frameshift

c.320delG; p.G107fs*80; 2:43225484-43225484

large_intestine; rectumcarcinoma; adenocarcinomaDeletion - Frameshift

c.320delG; p.G107fs*80; 2:43225484-43225484

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.320delG; p.G107fs*80; 2:43225484-43225484

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.320delG; p.G107fs*80; 2:43225484-43225484

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.320delG; p.G107fs*80; 2:43225484-43225484

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.361_362insG; p.D121fs*5; 2:43225442-43225443

large_intestine; rectumcarcinoma; adenocarcinomaInsertion - Frameshift

c.920C>T; p.S307F; 2:43224884-43224884

skinmalignant_melanomaSubstitution - Missense

c.622T>G; p.Y208D; 2:43225182-43225182

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.622T>G; p.Y208D; 2:43225182-43225182

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.429G>C; p.G143G; 2:43225375-43225375

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.24C>A; p.A8A; 2:43226292-43226292

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1022_1047del26; p.E341fs*124; 2:43224757-43224782

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.298A>G; p.T100A; 2:43225506-43225506

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.73C>T; p.L25F; 2:43225731-43225731

breastcarcinomaSubstitution - Missense

c.602A>C; p.H201P; 2:43225202-43225202

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.945C>T; p.P315P; 2:43224859-43224859

central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - coding silent

c.118delG; p.V40fs*147; 2:43225686-43225686

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.114_115insGGACG; p.P39fs*150; 2:43225689-43225690

endometriumcarcinoma; endometrioid_carcinomaInsertion - Frameshift

c.760T>C; p.L254L; 2:43225044-43225044

breastcarcinomaSubstitution - coding silent

c.760T>C; p.L254L; 2:43225044-43225044

breastcarcinomaSubstitution - coding silent

c.447_448insC; p.N150fs*324; 2:43225356-43225357

endometriumcarcinoma; endometrioid_carcinomaInsertion - Frameshift

c.406_407insC; p.H136fs*338; 2:43225397-43225398

large_intestine; rectumcarcinoma; adenocarcinomaInsertion - Frameshift

c.451_452insA; p.S151fs*323; 2:43225352-43225353

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.321C>G; p.G107G; 2:43225483-43225483

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.533A>T; p.H178L; 2:43225271-43225271

oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.320_321insG; p.G108fs*18; 2:43225483-43225484

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.320_321insG; p.G108fs*18; 2:43225483-43225484

large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.320_321insG; p.G108fs*18; 2:43225483-43225484

autonomic_ganglianeuroblastomaInsertion - Frameshift

c.320_321insG; p.G108fs*18; 2:43225483-43225484

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.745G>C; p.E249Q; 2:43225059-43225059

urinary_tract; bladdercarcinomaSubstitution - Missense


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