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

Basic Information

Gene ID

51147

Name

ING4

Synonymous

inhibitor of growth family, member 4;ING4;inhibitor of growth family, member 4

Definition

brain my036 protein|candidate tumor suppressor p33 ING1 homolog|inhibitor of growth protein 4

Position

12p13.31

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

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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 0.09.

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.295C>T; p.R99W; 12:6653032-6653032

 stomachadenocarcinomaSubstitution - Missense

c.295C>T; p.R99W; 12:6653032-6653032

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.447G>A; p.S149S; 12:6652712-6652712

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.634G>C; p.D212H; 12:6652282-6652282

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.695C>A; p.P232H; 12:6651336-6651336

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.695C>A; p.P232H; 12:6651336-6651336

 large_intestine; coloncarcinomaSubstitution - Missense

c.695C>A; p.P232H; 12:6651336-6651336

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.730G>C; p.E244Q; 12:6651212-6651212

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.576C>T; p.P192P; 12:6652340-6652340

 skinmalignant_melanomaSubstitution - coding silent

c.49C>T; p.L17F; 12:6656787-6656787

 skinmalignant_melanomaSubstitution - Missense

c.730G>C; p.E244Q; 12:6651212-6651212

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.307G>T; p.D103Y; 12:6653020-6653020

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.395G>A; p.R132Q; 12:6652764-6652764

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.629G>T; p.G210V; 12:6652287-6652287

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.317G>A; p.R106H; 12:6653010-6653010

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.317G>A; p.R106H; 12:6653010-6653010

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.326C>T; p.A109V; 12:6653001-6653001

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.117G>A; p.K39K; 12:6653389-6653389

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.550G>A; p.D184N; 12:6652366-6652366

 skinmalignant_melanomaSubstitution - Missense

c.628G>A; p.G210S; 12:6652288-6652288

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.308A>G; p.D103G; 12:6653019-6653019

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.118G>A; p.A40T; 12:6653388-6653388

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.660G>A; p.W220*; 12:6651371-6651371

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.494G>A; p.R165H; 12:6652665-6652665

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.707+2T>C; p.?; 12:6651322-6651322

 skinmalignant_melanomaUnknown

c.708-3C>T; p.?; 12:6651237-6651237

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.522A>C; p.S174S; 12:6652394-6652394

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.700G>A; p.G234R; 12:6651331-6651331

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.611C>T; p.S204F; 12:6652305-6652305

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.251A>G; p.Q84R; 12:6653255-6653255

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.587C>T; p.T196I; 12:6652329-6652329

 skinmalignant_melanomaSubstitution - Missense

c.316C>T; p.R106C; 12:6653011-6653011

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.446C>T; p.S149L; 12:6652713-6652713

 skinmalignant_melanomaSubstitution - Missense

c.446C>T; p.S149L; 12:6652713-6652713

 skin; scalpmalignant_melanomaSubstitution - Missense

c.446C>T; p.S149L; 12:6652713-6652713

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.658T>C; p.W220R; 12:6651373-6651373

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.586A>C; p.T196P; 12:6652330-6652330

 breastcarcinomaSubstitution - Missense

c.586A>C; p.T196P; 12:6652330-6652330

 skinmalignant_melanomaSubstitution - Missense

c.528C>G; p.T176T; 12:6652388-6652388

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.460C>A; p.P154T; 12:6652699-6652699

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.498-2A>T; p.?; 12:6652420-6652420

 lungcarcinoma; adenocarcinomaUnknown

c.349G>A; p.E117K; 12:6652978-6652978

 breastcarcinomaSubstitution - Missense

c.189_190CC>TT; p.L64F; 12:6653316-6653317

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.505G>C; p.E169Q; 12:6652411-6652411

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.595C>T; p.L199F; 12:6652321-6652321

 skinmalignant_melanomaSubstitution - Missense

c.604C>T; p.Q202*; 12:6652312-6652312

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.705A>T; p.K235N; 12:6651326-6651326

 bonechondrosarcomaSubstitution - Missense

c.12G>C; p.G4G; 12:6663090-6663090

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.519C>T; p.P173P; 12:6652397-6652397

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.376A>T; p.S126C; 12:6652951-6652951

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

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