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

Basic Information

Gene ID

25792

Name

CIZ1

Synonymous

CDKN1A interacting zinc finger protein 1;CIZ1;CDKN1A interacting zinc finger protein 1

Definition

cip1-interacting zinc finger protein|nuclear protein NP94|zinc finger protein 356

Position

9q34.1

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

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 0.22.

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.2268C>T; p.I756I; 9:128169079-128169079

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.565T>C; p.S189P; 9:128185570-128185570

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2220C>A; p.F740L; 9:128169127-128169127

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.2012G>A; p.R671H; 9:128170039-128170039

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2012G>A; p.R671H; 9:128170039-128170039

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.216G>A; p.Q72Q; 9:128190399-128190399

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.695C>T; p.P232L; 9:128180511-128180511

pancreascarcinomaSubstitution - Missense

c.1961G>A; p.R654H; 9:128170090-128170090

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2131G>A; p.D711N; 9:128169420-128169420

skinmalignant_melanomaSubstitution - Missense

c.2074C>T; p.R692C; 9:128169477-128169477

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2421C>A; p.F807L; 9:128166825-128166825

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.929G>A; p.R310Q; 9:128179278-128179278

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2107C>T; p.H703Y; 9:128169444-128169444

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1407G>T; p.P469P; 9:128178800-128178800

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1512C>A; p.T504T; 9:128178477-128178477

livercarcinomaSubstitution - coding silent

c.664C>T; p.R222W; 9:128180739-128180739

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.664C>T; p.R222W; 9:128180739-128180739

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1912G>A; p.V638M; 9:128176382-128176382

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.200C>T; p.P67L; 9:128190415-128190415

prostatecarcinomaSubstitution - Missense

c.2218T>C; p.F740L; 9:128169129-128169129

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1411G>A; p.V471M; 9:128178796-128178796

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1497A>G; p.G499G; 9:128178710-128178710

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.832C>T; p.Q278*; 9:128179375-128179375

lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1078C>T; p.Q360*; 9:128179129-128179129

stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1078C>T; p.Q360*; 9:128179129-128179129

lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.535C>T; p.R179W; 9:128185600-128185600

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2337G>A; p.S779S; 9:128167123-128167123

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1412T>C; p.V471A; 9:128178795-128178795

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1412T>C; p.V471A; 9:128178795-128178795

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1412T>C; p.V471A; 9:128178795-128178795

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1906_1920del15; p.L636_R640delLPVPR; 9:128176374-128176388

breastcarcinomaDeletion - In frame

c.1910C>T; p.P637L; 9:128176384-128176384

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1007A>T; p.Q336L; 9:128179200-128179200

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.2500G>T; p.A834S; 9:128166394-128166394

breastcarcinomaSubstitution - Missense

c.1270C>T; p.Q424*; 9:128178937-128178937

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1516C>T; p.P506S; 9:128178473-128178473

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1924G>A; p.V642I; 9:128176370-128176370

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.715G>A; p.A239T; 9:128180491-128180491

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.497G>T; p.G166V; 9:128185638-128185638

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2617C>T; p.Q873*; 9:128166277-128166277

urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.1338G>T; p.Q446H; 9:128178869-128178869

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2219T>G; p.F740C; 9:128169128-128169128

livercarcinomaSubstitution - Missense

c.1133A>G; p.Q378R; 9:128179074-128179074

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1911_1923del13; p.V638fs*26; 9:128176371-128176383

stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.589G>A; p.D197N; 9:128180814-128180814

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.557G>A; p.R186Q; 9:128185578-128185578

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1586G>C; p.G529A; 9:128178403-128178403

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1498+3A>T; p.?; 9:128178706-128178706

pancreascarcinomaUnknown

c.943G>A; p.V315I; 9:128179264-128179264

skinmalignant_melanomaSubstitution - Missense

c.639G>T; p.E213D; 9:128180764-128180764

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2275G>A; p.E759K; 9:128169072-128169072

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2053C>T; p.P685S; 9:128169498-128169498

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.685C>T; p.Q229*; 9:128180521-128180521

lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.277C>A; p.Q93K; 9:128190338-128190338

oesophaguscarcinomaSubstitution - Missense

c.235C>T; p.L79F; 9:128190380-128190380

stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.1918C>T; p.R640W; 9:128176376-128176376

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.2220C>T; p.F740F; 9:128169127-128169127

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2220C>T; p.F740F; 9:128169127-128169127

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.233C>T; p.S78F; 9:128190382-128190382

skinmalignant_melanomaSubstitution - Missense

c.635C>T; p.P212L; 9:128180768-128180768

skinmalignant_melanomaSubstitution - Missense

c.1818+2T>G; p.?; 9:128177564-128177564

large_intestine; colonadenomaUnknown

c.1916C>T; p.P639L; 9:128176378-128176378

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.740C>G; p.P247R; 9:128180466-128180466

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1560T>G; p.N520K; 9:128178429-128178429

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2513G>T; p.S838I; 9:128166381-128166381

thyroidother; neoplasmSubstitution - Missense

c.941G>C; p.R314P; 9:128179266-128179266

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.859A>T; p.M287L; 9:128179348-128179348

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1594G>C; p.E532Q; 9:128178395-128178395

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.455C>T; p.P152L; 9:128185680-128185680

skinmalignant_melanomaSubstitution - Missense

c.455C>T; p.P152L; 9:128185680-128185680

skinmalignant_melanomaSubstitution - Missense

c.985C>T; p.R329W; 9:128179222-128179222

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2626delA; p.T876fs*5; 9:128166268-128166268

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.35_36insGTT; p.Q12_Q13insL; 9:128190822-128190823

breastcarcinomaInsertion - In frame

c.1223A>G; p.Q408R; 9:128178984-128178984

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.478C>T; p.L160L; 9:128185657-128185657

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2544C>T; p.C848C; 9:128166350-128166350

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.733C>T; p.P245S; 9:128180473-128180473

skinmalignant_melanomaSubstitution - Missense

c.1913T>C; p.V638A; 9:128176381-128176381

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1913T>C; p.V638A; 9:128176381-128176381

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2642C>T; p.T881M; 9:128166252-128166252

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1031A>G; p.Q344R; 9:128179176-128179176

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1307A>T; p.H436L; 9:128178900-128178900

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2476G>C; p.E826Q; 9:128166770-128166770

NSNSSubstitution - Missense

c.1028A>G; p.K343R; 9:128179179-128179179

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1458C>T; p.C486C; 9:128178749-128178749

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1413G>A; p.V471V; 9:128178794-128178794

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1413G>A; p.V471V; 9:128178794-128178794

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1605G>A; p.A535A; 9:128178384-128178384

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.517C>T; p.Q173*; 9:128185618-128185618

livercarcinomaSubstitution - Nonsense

c.649G>A; p.E217K; 9:128180754-128180754

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1330C>T; p.Q444*; 9:128178877-128178877

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Nonsense

c.517C>T; p.Q173*; 9:128185618-128185618

livercarcinomaSubstitution - Nonsense

c.2050C>T; p.R684*; 9:128169501-128169501

breastcarcinomaSubstitution - Nonsense

c.1712G>A; p.R571H; 9:128177672-128177672

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.2050C>T; p.R684*; 9:128169501-128169501

lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.2050C>T; p.R684*; 9:128169501-128169501

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1712G>A; p.R571H; 9:128177672-128177672

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2050C>T; p.R684*; 9:128169501-128169501

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.556C>T; p.R186W; 9:128185579-128185579

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.855C>T; p.A285A; 9:128179352-128179352

skinmalignant_melanomaSubstitution - coding silent

c.567_569delCTC; p.S190delS; 9:128185566-128185568

endometriumcarcinoma; endometrioid_carcinomaDeletion - In frame

c.217G>A; p.G73S; 9:128190398-128190398

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.2404C>T; p.R802C; 9:128166842-128166842

central_nervous_system; brainglioma; astrocytoma_Grade_IIISubstitution - Missense

c.2664A>C; p.P888P; 9:128166230-128166230

ovaryother; neoplasmSubstitution - coding silent

c.401C>T; p.A134V; 9:128185734-128185734

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.176T>C; p.L59P; 9:128190439-128190439

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.530C>T; p.S177L; 9:128185605-128185605

cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.176T>C; p.L59P; 9:128190439-128190439

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.765C>T; p.S255S; 9:128180441-128180441

prostatecarcinomaSubstitution - coding silent

c.2653T>C; p.S885P; 9:128166241-128166241

breastcarcinomaSubstitution - Missense

c.176T>C; p.L59P; 9:128190439-128190439

central_nervous_system; braingliomaSubstitution - Missense

c.1386T>C; p.H462H; 9:128178821-128178821

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2510C>T; p.P837L; 9:128166384-128166384

thyroidother; neoplasmSubstitution - Missense

c.1292C>G; p.T431R; 9:128178915-128178915

ovaryother; neoplasmSubstitution - Missense

c.2065G>A; p.V689I; 9:128169486-128169486

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1726G>A; p.V576I; 9:128177658-128177658

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.26_28delAGC; p.Q9delQ; 9:128190830-128190832

large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.26_28delAGC; p.Q9delQ; 9:128190830-128190832

livercarcinomaDeletion - In frame

c.26_28delAGC; p.Q9delQ; 9:128190830-128190832

large_intestine; rectumcarcinoma; adenocarcinomaDeletion - In frame

c.26_28delAGC; p.Q9delQ; 9:128190830-128190832

skin; extremitymalignant_melanomaDeletion - In frame

c.26_28delAGC; p.Q9delQ; 9:128190830-128190832

skin; backmalignant_melanomaDeletion - In frame

c.2592C>T; p.G864G; 9:128166302-128166302

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1361C>T; p.S454L; 9:128178846-128178846

breastcarcinoma; HER-positive_carcinomaSubstitution - Missense

c.2253G>T; p.E751D; 9:128169094-128169094

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1629C>T; p.G543G; 9:128177755-128177755

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.279G>C; p.Q93H; 9:128190336-128190336

skinmalignant_melanomaSubstitution - Missense

c.955C>T; p.Q319*; 9:128179252-128179252

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.473C>T; p.S158F; 9:128185662-128185662

skinmalignant_melanomaSubstitution - Missense


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