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

Basic Information

Gene ID

5371

Name

PML

Synonymous

promyelocytic leukemia;PML;promyelocytic leukemia

Definition

RING finger protein 71|probable transcription factor PML|promyelocytic leukemia protein|promyelocytic leukemia, inducer of|protein PML|tripartite motif protein TRIM19|tripartite motif-containing protein 19

Position

15q22

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 0.07.

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.1702G>A; p.E568K; 15:74034522-74034522

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.265C>A; p.P89T; 15:73998139-73998139

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.841G>A; p.E281K; 15:74023066-74023066

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1933T>C; p.F645L; 15:74044292-74044292

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1933T>C; p.F645L; 15:74044292-74044292

 thyroidother; neoplasmSubstitution - Missense

c.2269C>T; p.L757F; 15:74044628-74044628

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1813G>T; p.A605S; 15:74043091-74043091

 pancreascarcinomaSubstitution - Missense

c.2386C>T; p.R796C; 15:74044745-74044745

 pancreascarcinomaSubstitution - Missense

c.738G>A; p.A246A; 15:74022963-74022963

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.201G>A; p.P67P; 15:73998075-73998075

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1632C>T; p.H544H; 15:74033389-74033389

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.758C>A; p.A253D; 15:74022983-74022983

 central_nervous_system; braingliomaSubstitution - Missense

c.1647C>T; p.A549A; 15:74033404-74033404

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.783G>A; p.M261I; 15:74023008-74023008

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1184-8T>C; p.?; 15:74024849-74024849

 livercarcinomaUnknown

c.2499G>A; p.T833T; 15:74044858-74044858

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1078C>T; p.R360C; 15:74023303-74023303

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.895G>C; p.E299Q; 15:74023120-74023120

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1078C>T; p.R360C; 15:74023303-74023303

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.908C>T; p.A303V; 15:74023133-74023133

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1669_1671delGTG; p.V558delV; 15:74034489-74034491

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - In frame

c.809G>A; p.R270H; 15:74023034-74023034

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.249G>A; p.A83A; 15:73998123-73998123

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1355T>C; p.V452A; 15:74032672-74032672

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.249G>A; p.A83A; 15:73998123-73998123

 ovaryother; neoplasmSubstitution - coding silent

c.345C>T; p.R115R; 15:73998219-73998219

 skinmalignant_melanomaSubstitution - coding silent

c.1089G>T; p.E363D; 15:74023314-74023314

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1259A>T; p.E420V; 15:74032576-74032576

 kidneycarcinoma; renal_cell_carcinomaSubstitution - Missense

c.1259A>T; p.E420V; 15:74032576-74032576

 kidneycarcinoma; renal_cell_carcinomaSubstitution - Missense

c.1259A>T; p.E420V; 15:74032576-74032576

 kidneycarcinoma; renal_cell_carcinomaSubstitution - Missense

c.1259A>T; p.E420V; 15:74032576-74032576

 kidneycarcinoma; renal_cell_carcinomaSubstitution - Missense

c.1886C>T; p.A629V; 15:74044245-74044245

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.318C>T; p.N106N; 15:73998192-73998192

 central_nervous_system; braingliomaSubstitution - coding silent

c.1257C>T; p.P419P; 15:74032574-74032574

 breastcarcinomaSubstitution - coding silent

c.1388C>T; p.S463F; 15:74032705-74032705

 skinmalignant_melanomaSubstitution - Missense

c.998T>C; p.V333A; 15:74023223-74023223

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.506T>C; p.L169P; 15:73998380-73998380

 bone; tibiaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1474G>T; p.E492*; 15:74033231-74033231

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1474G>T; p.E492*; 15:74033231-74033231

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.850C>T; p.R284C; 15:74023075-74023075

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1238C>T; p.P413L; 15:74024911-74024911

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1665C>T; p.R555R; 15:74034485-74034485

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.916C>T; p.Q306*; 15:74023141-74023141

 skinmalignant_melanomaSubstitution - Nonsense

c.916C>T; p.Q306*; 15:74023141-74023141

 skinmalignant_melanomaSubstitution - Nonsense

c.2097A>T; p.E699D; 15:74044456-74044456

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2456G>A; p.G819D; 15:74044815-74044815

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.1043T>C; p.M348T; 15:74023268-74023268

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1617G>T; p.L539L; 15:74033374-74033374

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.776C>T; p.A259V; 15:74023001-74023001

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2409G>T; p.V803V; 15:74044768-74044768

 pancreascarcinoid-endocrine_tumourSubstitution - coding silent

c.871C>T; p.R291W; 15:74023096-74023096

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1228C>G; p.P410A; 15:74024901-74024901

 breastcarcinomaSubstitution - Missense

c.509G>A; p.R170H; 15:73998383-73998383

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.73delC; p.E27fs*71; 15:73994885-73994885

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.509G>A; p.R170H; 15:73998383-73998383

 central_nervous_system; brainglioma; astrocytoma_Grade_IIISubstitution - Missense

c.509G>A; p.R170H; 15:73998383-73998383

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.73delC; p.E27fs*71; 15:73994885-73994885

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.344G>T; p.R115L; 15:73998218-73998218

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.793G>A; p.V265I; 15:74023018-74023018

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1219G>T; p.A407S; 15:74024892-74024892

 livercarcinomaSubstitution - Missense

c.1986C>G; p.F662L; 15:74044345-74044345

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.732G>A; p.T244T; 15:74022957-74022957

 pancreascarcinomaSubstitution - coding silent

c.1736G>T; p.S579I; 15:74043014-74043014

 livercarcinomaSubstitution - Missense

c.1736G>T; p.S579I; 15:74043014-74043014

 livercarcinomaSubstitution - Missense

c.2131C>A; p.L711M; 15:74044490-74044490

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2131C>A; p.L711M; 15:74044490-74044490

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1736G>T; p.S579I; 15:74043014-74043014

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.208C>T; p.L70L; 15:73998082-73998082

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.841G>T; p.E281*; 15:74023066-74023066

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Nonsense

c.429C>T; p.C143C; 15:73998303-73998303

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.2573C>T; p.A858V; 15:74044932-74044932

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.185C>T; p.A62V; 15:73998059-73998059

 pancreascarcinomaSubstitution - Missense

c.1949C>T; p.S650F; 15:74044308-74044308

 skinmalignant_melanomaSubstitution - Missense

c.1672G>T; p.V558L; 15:74034492-74034492

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2200C>T; p.L734L; 15:74044559-74044559

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1230C>T; p.P410P; 15:74024903-74024903

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2623G>A; p.A875T; 15:74044982-74044982

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1281C>T; p.A427A; 15:74032598-74032598

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2238C>T; p.A746A; 15:74044597-74044597

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.772C>A; p.H258N; 15:74022997-74022997

 adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningSubstitution - Missense

c.630G>T; p.P210P; 15:74022855-74022855

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1115G>T; p.R372L; 15:74023340-74023340

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1035G>A; p.V345V; 15:74023260-74023260

 oesophaguscarcinomaSubstitution - coding silent

c.2410A>G; p.S804G; 15:74044769-74044769

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1671G>T; p.V557V; 15:74034491-74034491

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.138C>T; p.P46P; 15:73998012-73998012

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.2217C>T; p.S739S; 15:74044576-74044576

 livercarcinomaSubstitution - coding silent

c.2217C>T; p.S739S; 15:74044576-74044576

 livercarcinomaSubstitution - coding silent

c.984G>A; p.T328T; 15:74023209-74023209

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.523C>T; p.R175C; 15:73998397-73998397

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.200C>T; p.P67L; 15:73998074-73998074

 skinmalignant_melanomaSubstitution - Missense

c.1406C>T; p.S469F; 15:74033163-74033163

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2344C>T; p.Q782*; 15:74044703-74044703

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1A>G; p.M1V; 15:73994813-73994813

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.1145G>A; p.R382H; 15:74023370-74023370

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1503G>T; p.L501F; 15:74033260-74033260

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.259C>T; p.Q87*; 15:73998133-73998133

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.2008C>T; p.R670C; 15:74044367-74044367

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.358C>T; p.R120W; 15:73998232-73998232

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1448A>C; p.Q483P; 15:74033205-74033205

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2570C>T; p.P857L; 15:74044929-74044929

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.899C>T; p.A300V; 15:74023124-74023124

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2203G>A; p.A735T; 15:74044562-74044562

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.564C>A; p.F188L; 15:73998438-73998438

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.2533G>A; p.A845T; 15:74044892-74044892

 skinmalignant_melanomaSubstitution - Missense

c.251C>T; p.S84L; 15:73998125-73998125

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2138T>G; p.L713R; 15:74044497-74044497

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.462A>G; p.A154A; 15:73998336-73998336

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.557A>G; p.N186S; 15:73998431-73998431

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.544C>T; p.R182C; 15:73998418-73998418

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.584G>A; p.R195H; 15:73998458-73998458

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.819C>T; p.A273A; 15:74023044-74023044

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.819C>T; p.A273A; 15:74023044-74023044

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1087G>A; p.E363K; 15:74023312-74023312

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1365C>T; p.Y455Y; 15:74032682-74032682

 pancreascarcinomaSubstitution - coding silent

c.1365C>T; p.Y455Y; 15:74032682-74032682

 pancreascarcinomaSubstitution - coding silent

c.1670T>G; p.V557G; 15:74034490-74034490

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1480G>T; p.E494*; 15:74033237-74033237

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1262A>T; p.E421V; 15:74032579-74032579

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1648delG; p.E551fs*8; 15:74033405-74033405

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.793G>T; p.V265F; 15:74023018-74023018

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1098C>A; p.S366R; 15:74023323-74023323

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.884G>A; p.R295H; 15:74023109-74023109

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1901G>T; p.S634I; 15:74044260-74044260

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1335A>T; p.S445S; 15:74032652-74032652

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.848T>C; p.V283A; 15:74023073-74023073

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.252G>A; p.S84S; 15:73998126-73998126

 skinmalignant_melanomaSubstitution - coding silent

c.1655C>T; p.A552V; 15:74033412-74033412

 central_nervous_system; brainglioma; astrocytoma_Grade_IISubstitution - Missense

c.2383_2384insC; p.R796fs*20; 15:74044742-74044743

 skinmalignant_melanomaInsertion - Frameshift

c.2460_2462delGAA; p.K822delK; 15:74044819-74044821

 endometriumcarcinoma; endometrioid_carcinomaDeletion - In frame

c.2004C>T; p.S668S; 15:74044363-74044363

 skinmalignant_melanomaSubstitution - coding silent

c.2158G>A; p.G720R; 15:74044517-74044517

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.327C>T; p.F109F; 15:73998201-73998201

 skinmalignant_melanomaSubstitution - coding silent

c.1518G>A; p.P506P; 15:74033275-74033275

 prostatecarcinomaSubstitution - coding silent

c.351G>A; p.S117S; 15:73998225-73998225

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.351G>A; p.S117S; 15:73998225-73998225

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.351G>A; p.S117S; 15:73998225-73998225

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.351G>A; p.S117S; 15:73998225-73998225

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.583C>T; p.R195C; 15:73998457-73998457

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.424G>C; p.E142Q; 15:73998298-73998298

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1716C>T; p.S572S; 15:74042994-74042994

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.72_73insC; p.E27fs*5; 15:73994884-73994885

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.288C>T; p.P96P; 15:73998162-73998162

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.883C>T; p.R295C; 15:74023108-74023108

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1354G>A; p.V452M; 15:74032671-74032671

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2598C>T; p.S866S; 15:74044957-74044957

 livercarcinomaSubstitution - coding silent

c.2598C>T; p.S866S; 15:74044957-74044957

 livercarcinomaSubstitution - coding silent

c.184G>T; p.A62S; 15:73998058-73998058

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1461G>T; p.K487N; 15:74033218-74033218

 livercarcinomaSubstitution - Missense

c.1461G>T; p.K487N; 15:74033218-74033218

 livercarcinomaSubstitution - Missense

c.2582G>T; p.R861L; 15:74044941-74044941

 lung; middle_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.909G>T; p.A303A; 15:74023134-74023134

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.851G>T; p.R284L; 15:74023076-74023076

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.851G>T; p.R284L; 15:74023076-74023076

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.307G>T; p.A103S; 15:73998181-73998181

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2615G>A; p.R872H; 15:74044974-74044974

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

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