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

Basic Information

Gene ID

51343

Name

FZR1

Synonymous

fizzy/cell division cycle 20 related 1 (Drosophila);FZR1;fizzy/cell division cycle 20 related 1 (Drosophila)

Definition

CDC20-like 1b|CDC20-like protein 1|cdh1/Hct1 homolog|fizzy-related protein homolog

Position

19p13.3

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

There is no record for FZR1

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 0.14.

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.39C>T; p.I13I; 19:3523028-3523028

 skinmalignant_melanomaSubstitution - coding silent

c.1042G>A; p.V348M; 19:3532450-3532450

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1430G>A; p.R477H; 19:3534503-3534503

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1064T>C; p.L355P; 19:3532472-3532472

 pancreascarcinomaSubstitution - Missense

c.734C>T; p.A245V; 19:3531727-3531727

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.149C>T; p.P50L; 19:3525947-3525947

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.501C>A; p.P167P; 19:3527661-3527661

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.1333C>A; p.R445S; 19:3533384-3533384

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1333C>A; p.R445S; 19:3533384-3533384

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1070_1071CC>TT; p.A357V; 19:3532478-3532479

 skinmalignant_melanomaSubstitution - Missense

c.149C>A; p.P50H; 19:3525947-3525947

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.52G>A; p.E18K; 19:3523041-3523041

 thyroidcarcinomaSubstitution - Missense

c.1057G>T; p.E353*; 19:3532465-3532465

 pleurapulmonary_blastomaSubstitution - Nonsense

c.659C>T; p.T220M; 19:3530796-3530796

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.590C>T; p.S197F; 19:3527750-3527750

 meningesmeningioma; secretorySubstitution - Missense

c.1457T>A; p.L486H; 19:3534811-3534811

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.494G>A; p.R165Q; 19:3527654-3527654

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1049A>T; p.Q350L; 19:3532457-3532457

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.487_488insC; p.R165fs*60; 19:3527647-3527648

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.418G>A; p.D140N; 19:3527010-3527010

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.288G>T; p.K96N; 19:3526287-3526287

 thyroidother; neoplasmSubstitution - Missense

c.1333C>T; p.R445C; 19:3533384-3533384

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1251G>T; p.T417T; 19:3533302-3533302

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.718C>T; p.R240W; 19:3530855-3530855

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.253G>A; p.G85S; 19:3526177-3526177

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1161G>A; p.T387T; 19:3532569-3532569

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1292C>T; p.P431L; 19:3533343-3533343

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.148C>T; p.P50S; 19:3525946-3525946

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.515C>T; p.S172F; 19:3527675-3527675

 skinmalignant_melanomaSubstitution - Missense

c.148C>T; p.P50S; 19:3525946-3525946

 skinmalignant_melanomaSubstitution - Missense

c.173G>A; p.S58N; 19:3525971-3525971

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.444C>G; p.Y148*; 19:3527036-3527036

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.404A>C; p.K135T; 19:3526996-3526996

 ovaryother; neoplasmSubstitution - Missense

c.1293C>A; p.P431P; 19:3533344-3533344

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.209C>T; p.S70F; 19:3526133-3526133

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.90C>T; p.T30T; 19:3525888-3525888

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.84G>A; p.R28R; 19:3525882-3525882

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.587C>T; p.S196L; 19:3527747-3527747

 skinmalignant_melanomaSubstitution - Missense

c.600G>T; p.V200V; 19:3527760-3527760

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1084G>A; p.A362T; 19:3532492-3532492

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.670G>A; p.D224N; 19:3530807-3530807

 livercarcinomaSubstitution - Missense

c.670G>A; p.D224N; 19:3530807-3530807

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.484C>T; p.R162W; 19:3527644-3527644

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1201C>T; p.Q401*; 19:3532609-3532609

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.698C>A; p.T233N; 19:3530835-3530835

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.32G>A; p.R11H; 19:3523021-3523021

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.989_990insG; p.N333fs*47; 19:3532076-3532077

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.1328C>T; p.S443F; 19:3533379-3533379

 skinmalignant_melanomaSubstitution - Missense

c.252C>A; p.N84K; 19:3526176-3526176

 skinmalignant_melanomaSubstitution - Missense

c.120G>A; p.S40S; 19:3525918-3525918

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.447C>T; p.S149S; 19:3527039-3527039

 skinmalignant_melanomaSubstitution - coding silent

c.447C>T; p.S149S; 19:3527039-3527039

 skinmalignant_melanomaSubstitution - coding silent

c.263G>T; p.G88V; 19:3526262-3526262

 skinmalignant_melanomaSubstitution - Missense

c.937C>T; p.R313W; 19:3532024-3532024

 skinmalignant_melanomaSubstitution - Missense

c.528C>T; p.F176F; 19:3527688-3527688

 skinmalignant_melanomaSubstitution - coding silent

c.652C>T; p.Q218*; 19:3527812-3527812

 prostatecarcinomaSubstitution - Nonsense

c.171G>C; p.W57C; 19:3525969-3525969

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.938G>A; p.R313Q; 19:3532025-3532025

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1202A>G; p.Q401R; 19:3532610-3532610

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1478G>A; p.R493Q; 19:3534832-3534832

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.648C>T; p.T216T; 19:3527808-3527808

 skinmalignant_melanomaSubstitution - coding silent

c.870C>T; p.D290D; 19:3531957-3531957

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.818G>A; p.R273H; 19:3531811-3531811

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1287G>A; p.K429K; 19:3533338-3533338

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1429C>T; p.R477C; 19:3534502-3534502

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1440+8G>A; p.?; 19:3534521-3534521

 NSmalignant_melanomaUnknown

c.393C>T; p.S131S; 19:3526985-3526985

 skinmalignant_melanomaSubstitution - coding silent

c.1354_1355insC; p.D454fs*1; 19:3534427-3534428

 autonomic_ganglianeuroblastomaInsertion - Frameshift

c.1193C>T; p.T398M; 19:3532601-3532601

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.48G>C; p.Q16H; 19:3523037-3523037

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.591C>A; p.S197S; 19:3527751-3527751

 skinmalignant_melanomaSubstitution - coding silent

c.758T>C; p.V253A; 19:3531751-3531751

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.757G>A; p.V253M; 19:3531750-3531750

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.757G>A; p.V253M; 19:3531750-3531750

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.523C>G; p.P175A; 19:3527683-3527683

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1333C>G; p.R445G; 19:3533384-3533384

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1333C>G; p.R445G; 19:3533384-3533384

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.23G>A; p.R8H; 19:3523012-3523012

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.662G>A; p.R221Q; 19:3530799-3530799

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.386delC; p.T129fs*77; 19:3526385-3526385

 oesophaguscarcinoma; adenocarcinomaDeletion - Frameshift

c.1451C>T; p.S484F; 19:3534805-3534805

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.1417delT; p.F473fs*>21; 19:3534490-3534490

 biliary_tract; gallbladdercarcinoma; adenocarcinomaDeletion - Frameshift

c.576G>C; p.L192L; 19:3527736-3527736

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.1024C>G; p.H342D; 19:3532432-3532432

 livercarcinomaSubstitution - Missense

c.1024C>G; p.H342D; 19:3532432-3532432

 livercarcinomaSubstitution - Missense

c.1119delG; p.G375fs*14; 19:3532527-3532527

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.1119delG; p.G375fs*14; 19:3532527-3532527

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.1281C>A; p.V427V; 19:3533332-3533332

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1433C>T; p.S478L; 19:3534506-3534506

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.1111C>A; p.L371M; 19:3532519-3532519

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.263G>A; p.G88D; 19:3526262-3526262

 skinmalignant_melanomaSubstitution - Missense

c.280_284delCTGCT; p.L94fs*3; 19:3526279-3526283

 endometriumcarcinoma; endometrioid_carcinomaDeletion - Frameshift

c.40G>A; p.V14I; 19:3523029-3523029

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.241delA; p.T81fs*125; 19:3526165-3526165

 lungcarcinoma; adenocarcinomaDeletion - Frameshift

c.947T>G; p.V316G; 19:3532034-3532034

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.947T>G; p.V316G; 19:3532034-3532034

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.947T>G; p.V316G; 19:3532034-3532034

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.947T>G; p.V316G; 19:3532034-3532034

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.947T>G; p.V316G; 19:3532034-3532034

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.947T>G; p.V316G; 19:3532034-3532034

 biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Missense

c.947T>G; p.V316G; 19:3532034-3532034

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.947T>G; p.V316G; 19:3532034-3532034

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.947T>G; p.V316G; 19:3532034-3532034

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.898A>C; p.T300P; 19:3531985-3531985

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1126G>C; p.G376R; 19:3532534-3532534

 central_nervous_system; braingliomaSubstitution - Missense

c.426C>T; p.G142G; 19:3527018-3527018

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.454C>A; p.P152T; 19:3527046-3527046

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1450T>A; p.S484T; 19:3534804-3534804

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.337G>T; p.E113*; 19:3526336-3526336

 large_intestineadenomaSubstitution - Nonsense

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