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

Basic Information

Gene ID

8930

Name

MBD4

Synonymous

methyl-CpG binding domain protein 4;MBD4;methyl-CpG binding domain protein 4

Definition

3,N(4)-ethenocytosine glycosylase|G/5-fluorouracil mismatch glycosylase with biphasic kinetics|G/T mismatch glycosylase|G/U mismatch glycosylase|methyl-CpG-binding domain protein 4|methyl-CpG-binding endonuclease 1|methyl-CpG-binding protein MBD4|mismatch

Position

3q21.3

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

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 0.11.

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.1639A>T; p.I547F; 3:129432529-129432529

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.392A>G; p.N131S; 3:129437252-129437252

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.199G>A; p.E67K; 3:129437856-129437856

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1721A>G; p.H574R; 3:129431523-129431523

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1694A>C; p.K565T; 3:129431550-129431550

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.61A>G; p.T21A; 3:129439773-129439773

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1554G>T; p.K518N; 3:129433105-129433105

 skinmalignant_melanomaSubstitution - Missense

c.1027G>A; p.E343K; 3:129436617-129436617

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1408T>G; p.S470A; 3:129433853-129433853

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.139G>A; p.G47R; 3:129437916-129437916

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1319C>A; p.P440H; 3:129433942-129433942

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1483G>C; p.D495H; 3:129433176-129433176

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1311A>G; p.K437K; 3:129433950-129433950

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.240A>G; p.T80T; 3:129437815-129437815

 breastcarcinoma; HER-positive_carcinomaSubstitution - coding silent

c.1532_1534delTTC; p.L511delL; 3:129433125-129433127

 endometriumcarcinoma; endometrioid_carcinomaDeletion - In frame

c.116T>C; p.V39A; 3:129437939-129437939

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.159G>A; p.M53I; 3:129437896-129437896

 skinmalignant_melanomaSubstitution - Missense

c.1666G>A; p.V556M; 3:129431578-129431578

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.665A>G; p.D222G; 3:129436979-129436979

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.967T>G; p.F323V; 3:129436677-129436677

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.729T>A; p.I243I; 3:129436915-129436915

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1139C>G; p.S380C; 3:129436505-129436505

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.797C>A; p.S266Y; 3:129436847-129436847

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1413C>T; p.G471G; 3:129433246-129433246

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.817G>A; p.A273T; 3:129436827-129436827

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.357A>G; p.R119R; 3:129437287-129437287

 skinmalignant_melanomaSubstitution - coding silent

c.675C>T; p.F225F; 3:129436969-129436969

 breastcarcinomaSubstitution - coding silent

c.1437G>T; p.W479C; 3:129433222-129433222

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.906G>C; p.V302V; 3:129436738-129436738

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.247C>T; p.R83C; 3:129437808-129437808

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1448A>T; p.E483V; 3:129433211-129433211

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1132C>T; p.R378C; 3:129436512-129436512

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1074C>T; p.I358I; 3:129436570-129436570

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1404G>A; p.R468R; 3:129433857-129433857

 skinmalignant_melanomaSubstitution - coding silent

c.541C>T; p.R181*; 3:129437103-129437103

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1245C>T; p.S415S; 3:129434093-129434093

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.404C>A; p.S135Y; 3:129437240-129437240

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1242A>G; p.T414T; 3:129434096-129434096

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1242A>G; p.T414T; 3:129434096-129434096

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1087G>C; p.E363Q; 3:129436557-129436557

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1087G>C; p.E363Q; 3:129436557-129436557

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1501G>C; p.E501Q; 3:129433158-129433158

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.142G>T; p.E48*; 3:129437913-129437913

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1377T>C; p.L459L; 3:129433884-129433884

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.393T>C; p.N131N; 3:129437251-129437251

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1419G>A; p.M473I; 3:129433240-129433240

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.939delA; p.E314fs*4; 3:129436705-129436705

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.939delA; p.E314fs*4; 3:129436705-129436705

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.939delA; p.E314fs*4; 3:129436705-129436705

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.939delA; p.E314fs*4; 3:129436705-129436705

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.939delA; p.E314fs*4; 3:129436705-129436705

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.939delA; p.E314fs*4; 3:129436705-129436705

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.939delA; p.E314fs*4; 3:129436705-129436705

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.939delA; p.E314fs*4; 3:129436705-129436705

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.939delA; p.E314fs*4; 3:129436705-129436705

 oesophagus; lower_thirdcarcinoma; adenocarcinomaDeletion - Frameshift

c.939delA; p.E314fs*4; 3:129436705-129436705

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1025C>G; p.S342*; 3:129436619-129436619

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Nonsense

c.1018A>G; p.K340E; 3:129436626-129436626

 livercarcinomaSubstitution - Missense

c.1264T>C; p.Y422H; 3:129434074-129434074

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.896C>A; p.T299N; 3:129436748-129436748

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1168_1169AG>TT; p.R390>?; 3:129436475-129436476

 lungcarcinoma; adenocarcinomaComplex

c.752G>T; p.R251M; 3:129436892-129436892

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.752G>T; p.R251M; 3:129436892-129436892

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.350A>C; p.K117T; 3:129437294-129437294

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1475G>C; p.R492T; 3:129433184-129433184

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1217G>A; p.R406Q; 3:129434121-129434121

 breastcarcinomaSubstitution - Missense

c.1534C>T; p.R512W; 3:129433125-129433125

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.745G>A; p.G249R; 3:129436899-129436899

 prostatecarcinomaSubstitution - Missense

c.58G>A; p.V20I; 3:129439776-129439776

 breastcarcinomaSubstitution - Missense

c.744delA; p.G249fs*54; 3:129436900-129436900

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1325G>A; p.R442Q; 3:129433936-129433936

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1418T>G; p.M473R; 3:129433241-129433241

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.368C>A; p.S123*; 3:129437276-129437276

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1418T>G; p.M473R; 3:129433241-129433241

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.1418T>G; p.M473R; 3:129433241-129433241

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.1324C>T; p.R442W; 3:129433937-129433937

 skinmalignant_melanomaSubstitution - Missense

c.571C>T; p.P191S; 3:129437073-129437073

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1516C>G; p.L506V; 3:129433143-129433143

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.546C>A; p.S182R; 3:129437098-129437098

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.992G>A; p.G331D; 3:129436652-129436652

 thyroidcarcinoma; anaplastic_carcinomaSubstitution - Missense

c.992G>A; p.G331D; 3:129436652-129436652

 thyroidcarcinoma; anaplastic_carcinomaSubstitution - Missense

c.326A>G; p.Y109C; 3:129437729-129437729

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1519G>A; p.G507S; 3:129433140-129433140

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.501A>G; p.L167L; 3:129437143-129437143

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1709T>C; p.L570P; 3:129431535-129431535

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1480G>A; p.A494T; 3:129433179-129433179

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.976G>T; p.E326*; 3:129436668-129436668

 lungcarcinoma; small_cell_carcinomaSubstitution - Nonsense

c.1318C>A; p.P440T; 3:129433943-129433943

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1056T>C; p.F352F; 3:129436588-129436588

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.1019A>G; p.K340R; 3:129436625-129436625

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1048G>A; p.D350N; 3:129436596-129436596

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1387A>G; p.T463A; 3:129433874-129433874

 NSmalignant_melanomaSubstitution - Missense

c.1211T>C; p.I404T; 3:129434127-129434127

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.754A>T; p.K252*; 3:129436890-129436890

 skinmalignant_melanomaSubstitution - Nonsense

c.104+1G>T; p.?; 3:129439729-129439729

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.217C>T; p.Q73*; 3:129437838-129437838

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.150G>T; p.E50D; 3:129437905-129437905

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1737A>G; p.L579L; 3:129431507-129431507

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1298A>G; p.K433R; 3:129433963-129433963

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.187C>T; p.P63S; 3:129437868-129437868

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

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