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

Basic Information

Gene ID

65979

Name

PHACTR4

Synonymous

phosphatase and actin regulator 4;PHACTR4;phosphatase and actin regulator 4

Definition

protein phosphatase 1, regulatory subunit 124

Position

1p35.3

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 0.31.

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.1382G>A; p.S461N; 1:28474082-28474082

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.239C>G; p.S80C; 1:28460230-28460230

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.231G>A; p.R77R; 1:28460222-28460222

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1052G>A; p.R351H; 1:28473752-28473752

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.842A>G; p.N281S; 1:28466757-28466757

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.941C>G; p.S314*; 1:28473641-28473641

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1025C>T; p.S342L; 1:28473725-28473725

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.528A>C; p.P176P; 1:28466443-28466443

 breastcarcinomaSubstitution - coding silent

c.291C>T; p.D97D; 1:28460282-28460282

 thyroidother; neoplasmSubstitution - coding silent

c.526C>T; p.P176S; 1:28466441-28466441

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2108G>T; p.S703I; 1:28493076-28493076

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.526C>T; p.P176S; 1:28466441-28466441

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1775G>A; p.G592E; 1:28480589-28480589

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1060T>C; p.S354P; 1:28473760-28473760

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1289G>A; p.R430Q; 1:28473989-28473989

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1441A>T; p.M481L; 1:28474141-28474141

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.230G>A; p.R77Q; 1:28460221-28460221

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1099C>T; p.R367C; 1:28473799-28473799

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.230G>A; p.R77Q; 1:28460221-28460221

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.810C>T; p.I270I; 1:28466725-28466725

 skinmalignant_melanomaSubstitution - coding silent

c.148T>C; p.F50L; 1:28459186-28459186

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1397G>A; p.S466N; 1:28474097-28474097

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.1790G>C; p.R597P; 1:28480604-28480604

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1537C>T; p.P513S; 1:28476192-28476192

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1182T>G; p.I394M; 1:28473882-28473882

 breastcarcinomaSubstitution - Missense

c.134G>A; p.S45N; 1:28459172-28459172

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.723C>G; p.P241P; 1:28466638-28466638

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1997A>G; p.Y666C; 1:28491738-28491738

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.424C>A; p.L142I; 1:28465807-28465807

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.245G>A; p.R82Q; 1:28460236-28460236

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaSubstitution - Missense

c.123C>T; p.T41T; 1:28459161-28459161

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1666G>C; p.D556H; 1:28480480-28480480

 NSNSSubstitution - Missense

c.1370A>T; p.E457V; 1:28474070-28474070

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1412G>A; p.R471Q; 1:28474112-28474112

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1257C>A; p.P419P; 1:28473957-28473957

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.663C>G; p.T221T; 1:28466578-28466578

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2086G>A; p.E696K; 1:28493054-28493054

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.244C>T; p.R82*; 1:28460235-28460235

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1892G>A; p.R631H; 1:28490996-28490996

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1719G>A; p.L573L; 1:28480533-28480533

 biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - coding silent

c.1762C>T; p.R588W; 1:28480576-28480576

 soft_tissue; striated_musclerhabdomyosarcoma; embryonalSubstitution - Missense

c.1603C>T; p.R535*; 1:28476258-28476258

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.900G>A; p.P300P; 1:28473600-28473600

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.900G>A; p.P300P; 1:28473600-28473600

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.2015A>C; p.K672T; 1:28491756-28491756

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.342G>T; p.K114N; 1:28465725-28465725

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1008C>T; p.S336S; 1:28473708-28473708

 livercarcinomaSubstitution - coding silent

c.1990C>G; p.Q664E; 1:28491731-28491731

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2109C>T; p.S703S; 1:28493077-28493077

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1245_1246insC; p.H417fs*5; 1:28473945-28473946

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1462_1464delGAA; p.E492delE; 1:28476117-28476119

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaDeletion - In frame

c.461G>A; p.R154Q; 1:28465844-28465844

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.709C>A; p.P237T; 1:28466624-28466624

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.957G>A; p.E319E; 1:28473657-28473657

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.309G>T; p.E103D; 1:28465692-28465692

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.764C>T; p.A255V; 1:28466679-28466679

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2019T>G; p.P673P; 1:28491760-28491760

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.298C>T; p.Q100*; 1:28460289-28460289

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.582G>A; p.G194G; 1:28466497-28466497

 stomachadenocarcinomaSubstitution - coding silent

c.1100G>A; p.R367H; 1:28473800-28473800

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1250A>T; p.H417L; 1:28473950-28473950

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1623T>C; p.D541D; 1:28476278-28476278

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1061delC; p.P356fs*33; 1:28473761-28473761

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1061delC; p.P356fs*33; 1:28473761-28473761

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1061delC; p.P356fs*33; 1:28473761-28473761

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1061delC; p.P356fs*33; 1:28473761-28473761

 ovarycarcinoma; serous_carcinomaDeletion - Frameshift

c.1919G>T; p.R640M; 1:28491660-28491660

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.220+2T>G; p.?; 1:28459260-28459260

 skinmalignant_melanomaUnknown

c.1103C>T; p.T368I; 1:28473803-28473803

 skinmalignant_melanomaSubstitution - Missense

c.2122C>T; p.R708C; 1:28493090-28493090

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2122C>T; p.R708C; 1:28493090-28493090

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2122C>T; p.R708C; 1:28493090-28493090

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.439C>T; p.P147S; 1:28465822-28465822

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.254G>C; p.R85T; 1:28460245-28460245

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.893C>T; p.S298L; 1:28473593-28473593

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.649G>A; p.A217T; 1:28466564-28466564

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1969T>C; p.Y657H; 1:28491710-28491710

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1060_1061insC; p.L357fs*18; 1:28473760-28473761

 skinmalignant_melanomaInsertion - Frameshift

c.1060_1061insC; p.L357fs*18; 1:28473760-28473761

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1288C>T; p.R430*; 1:28473988-28473988

 skinmalignant_melanomaSubstitution - Nonsense

c.18C>G; p.V6V; 1:28438402-28438402

 breastcarcinomaSubstitution - coding silent

c.839G>A; p.S280N; 1:28466754-28466754

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.636C>T; p.T212T; 1:28466551-28466551

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.238T>C; p.S80P; 1:28460229-28460229

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.602C>T; p.S201F; 1:28466517-28466517

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.602C>T; p.S201F; 1:28466517-28466517

 skinmalignant_melanomaSubstitution - Missense

c.867A>C; p.Q289H; 1:28473567-28473567

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.530C>A; p.P177H; 1:28466445-28466445

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1825G>T; p.E609*; 1:28489204-28489204

 biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1899C>G; p.L633L; 1:28491003-28491003

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1055C>A; p.S352Y; 1:28473755-28473755

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1388C>A; p.S463Y; 1:28474088-28474088

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1270C>T; p.P424S; 1:28473970-28473970

 livercarcinomaSubstitution - Missense

c.2041G>A; p.D681N; 1:28491782-28491782

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.179delG; p.S64fs*12; 1:28459217-28459217

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.215C>A; p.S72*; 1:28459253-28459253

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.1471G>A; p.E491K; 1:28476126-28476126

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.994G>A; p.E332K; 1:28473694-28473694

 breastcarcinomaSubstitution - Missense

c.1301C>T; p.A434V; 1:28474001-28474001

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1994A>T; p.D665V; 1:28491735-28491735

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1879C>T; p.R627*; 1:28490983-28490983

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1051C>T; p.R351C; 1:28473751-28473751

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1323G>A; p.M441I; 1:28474023-28474023

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.632C>G; p.S211C; 1:28466547-28466547

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1619A>G; p.E540G; 1:28476274-28476274

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2123+2T>G; p.?; 1:28493093-28493093

 stomachcarcinoma; adenocarcinomaUnknown

c.1452T>C; p.V484V; 1:28476107-28476107

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.487A>G; p.N163D; 1:28466402-28466402

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.766_767insC; p.S258fs*17; 1:28466681-28466682

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.1895G>C; p.R632P; 1:28490999-28490999

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1459G>A; p.D487N; 1:28476114-28476114

 breastcarcinomaSubstitution - Missense

c.1168C>A; p.L390I; 1:28473868-28473868

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.23G>T; p.R8I; 1:28438407-28438407

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.181delA; p.S64fs*12; 1:28459219-28459219

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.181delA; p.S64fs*12; 1:28459219-28459219

 large_intestine; rectumcarcinoma; adenocarcinomaDeletion - Frameshift

c.181delA; p.S64fs*12; 1:28459219-28459219

 large_intestine; rectumcarcinoma; adenocarcinomaDeletion - Frameshift

c.181delA; p.S64fs*12; 1:28459219-28459219

 breastcarcinoma; basal_(triple-negative)_carcinomaDeletion - Frameshift

c.181delA; p.S64fs*12; 1:28459219-28459219

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.181delA; p.S64fs*12; 1:28459219-28459219

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.181delA; p.S64fs*12; 1:28459219-28459219

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.181delA; p.S64fs*12; 1:28459219-28459219

 large_intestine; rectumcarcinoma; adenocarcinomaDeletion - Frameshift

c.181delA; p.S64fs*12; 1:28459219-28459219

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.181delA; p.S64fs*12; 1:28459219-28459219

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1812A>G; p.T604T; 1:28489191-28489191

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.181delA; p.S64fs*12; 1:28459219-28459219

 pancreascarcinoma; acinar_carcinomaDeletion - Frameshift

c.181delA; p.S64fs*12; 1:28459219-28459219

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.181delA; p.S64fs*12; 1:28459219-28459219

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.181delA; p.S64fs*12; 1:28459219-28459219

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.181delA; p.S64fs*12; 1:28459219-28459219

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1812A>G; p.T604T; 1:28489191-28489191

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.181delA; p.S64fs*12; 1:28459219-28459219

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.181delA; p.S64fs*12; 1:28459219-28459219

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.181delA; p.S64fs*12; 1:28459219-28459219

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.181delA; p.S64fs*12; 1:28459219-28459219

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.181delA; p.S64fs*12; 1:28459219-28459219

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.181delA; p.S64fs*12; 1:28459219-28459219

 ovarycarcinoma; serous_carcinomaDeletion - Frameshift

c.181delA; p.S64fs*12; 1:28459219-28459219

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.181delA; p.S64fs*12; 1:28459219-28459219

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.181delA; p.S64fs*12; 1:28459219-28459219

 ovarycarcinoma; serous_carcinomaDeletion - Frameshift

c.181delA; p.S64fs*12; 1:28459219-28459219

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.181delA; p.S64fs*12; 1:28459219-28459219

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.106G>A; p.D36N; 1:28459144-28459144

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

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