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

Basic Information

Gene ID

51177

Name

PLEKHO1

Synonymous

pleckstrin homology domain containing, family O member 1;PLEKHO1;pleckstrin homology domain containing, family O member 1

Definition

C-Jun-binding protein|CK2 interacting protein 1; HQ0024c protein|CK2-interacting protein 1|PH domain-containing family O member 1|casein kinase 2-interacting protein 1|osteoclast maturation-associated gene 120 protein|pleckstrin homology domain-containing

Position

1q21.2

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 0.09.

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.812C>T; p.S271F; 1:150159105-150159105

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.32G>A; p.G11E; 1:150150913-150150913

 breastcarcinomaSubstitution - Missense

c.973G>C; p.E325Q; 1:150159266-150159266

 breastcarcinomaSubstitution - Missense

c.1000C>T; p.R334*; 1:150159293-150159293

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.290T>G; p.L97R; 1:150156178-150156178

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.196A>G; p.I66V; 1:150156084-150156084

 livercarcinomaSubstitution - Missense

c.1214G>A; p.R405Q; 1:150159507-150159507

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1214G>A; p.R405Q; 1:150159507-150159507

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.804C>T; p.R268R; 1:150159097-150159097

 skinmalignant_melanomaSubstitution - coding silent

c.1162C>A; p.L388M; 1:150159455-150159455

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.424-1G>A; p.?; 1:150157384-150157384

 pancreascarcinomaUnknown

c.699C>T; p.S233S; 1:150158992-150158992

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1131G>A; p.R377R; 1:150159424-150159424

 ovaryother; neoplasmSubstitution - coding silent

c.906G>A; p.P302P; 1:150159199-150159199

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.159C>G; p.L53L; 1:150151040-150151040

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.189G>T; p.E63D; 1:150156077-150156077

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1021C>T; p.R341W; 1:150159314-150159314

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1195A>T; p.T399S; 1:150159488-150159488

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1195A>T; p.T399S; 1:150159488-150159488

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.611C>T; p.A204V; 1:150158904-150158904

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.135T>C; p.Y45Y; 1:150151016-150151016

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.919C>T; p.R307W; 1:150159212-150159212

 skin; legmalignant_melanomaSubstitution - Missense

c.919C>T; p.R307W; 1:150159212-150159212

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.336C>T; p.F112F; 1:150156928-150156928

 skinmalignant_melanomaSubstitution - coding silent

c.868C>T; p.R290W; 1:150159161-150159161

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1185C>G; p.L395L; 1:150159478-150159478

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.490C>T; p.R164C; 1:150157451-150157451

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.490C>T; p.R164C; 1:150157451-150157451

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.917C>T; p.S306F; 1:150159210-150159210

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.202G>C; p.E68Q; 1:150156090-150156090

 oesophaguscarcinomaSubstitution - Missense

c.441C>T; p.D147D; 1:150157402-150157402

 livercarcinomaSubstitution - coding silent

c.588C>T; p.S196S; 1:150158881-150158881

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.441C>T; p.D147D; 1:150157402-150157402

 livercarcinomaSubstitution - coding silent

c.441C>T; p.D147D; 1:150157402-150157402

 livercarcinomaSubstitution - coding silent

c.441C>T; p.D147D; 1:150157402-150157402

 livercarcinomaSubstitution - coding silent

c.194A>C; p.N65T; 1:150156082-150156082

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.398G>A; p.R133Q; 1:150156990-150156990

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1115T>A; p.V372E; 1:150159408-150159408

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.803G>T; p.R268L; 1:150159096-150159096

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1007C>T; p.A336V; 1:150159300-150159300

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.334T>G; p.F112V; 1:150156926-150156926

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.787C>T; p.P263S; 1:150159080-150159080

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.666G>A; p.R222R; 1:150158959-150158959

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.75C>T; p.V25V; 1:150150956-150150956

 breastcarcinomaSubstitution - coding silent

c.601A>G; p.T201A; 1:150158894-150158894

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.742G>C; p.D248H; 1:150159035-150159035

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1022G>C; p.R341P; 1:150159315-150159315

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.318+1G>A; p.?; 1:150156207-150156207

 skinmalignant_melanomaUnknown

c.1137G>C; p.L379L; 1:150159430-150159430

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1064C>T; p.T355M; 1:150159357-150159357

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1064C>T; p.T355M; 1:150159357-150159357

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.941G>A; p.R314K; 1:150159234-150159234

 pancreascarcinomaSubstitution - Missense

c.618C>T; p.S206S; 1:150158911-150158911

 skinmalignant_melanomaSubstitution - coding silent

c.1027C>A; p.P343T; 1:150159320-150159320

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.232T>C; p.C78R; 1:150156120-150156120

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.617G>A; p.S206N; 1:150158910-150158910

 central_nervous_system; braingliomaSubstitution - Missense

c.1101C>T; p.S367S; 1:150159394-150159394

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.31-2A>G; p.?; 1:150150910-150150910

 stomachcarcinoma; adenocarcinomaUnknown

c.921G>A; p.R307R; 1:150159214-150159214

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1227G>A; p.M409I; 1:150159520-150159520

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.76G>A; p.G26S; 1:150150957-150150957

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.204G>A; p.E68E; 1:150156092-150156092

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1165C>T; p.Q389*; 1:150159458-150159458

 stomachcarcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiableSubstitution - Nonsense

c.86G>A; p.R29Q; 1:150150967-150150967

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.904C>T; p.P302S; 1:150159197-150159197

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.825C>T; p.I275I; 1:150159118-150159118

 skinmalignant_melanomaSubstitution - coding silent

c.429C>G; p.T143T; 1:150157390-150157390

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.732G>T; p.W244C; 1:150159025-150159025

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.984A>G; p.G328G; 1:150159277-150159277

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1211A>G; p.Y404C; 1:150159504-150159504

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.446A>C; p.Y149S; 1:150157407-150157407

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.905_906insG; p.Q304fs*44; 1:150159198-150159199

 lungcarcinoma; adenocarcinomaInsertion - Frameshift

c.1200G>A; p.P400P; 1:150159493-150159493

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.472G>A; p.A158T; 1:150157433-150157433

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.1032G>A; p.P344P; 1:150159325-150159325

 pancreascarcinomaSubstitution - coding silent

c.39G>T; p.Q13H; 1:150150920-150150920

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.39G>T; p.Q13H; 1:150150920-150150920

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1083G>T; p.E361D; 1:150159376-150159376

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.365C>T; p.S122L; 1:150156957-150156957

 skinmalignant_melanomaSubstitution - Missense

c.1014delC; p.P340fs*40; 1:150159307-150159307

 skin; facemalignant_melanomaDeletion - Frameshift

c.761delC; p.Q256fs*6; 1:150159054-150159054

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.761delC; p.Q256fs*6; 1:150159054-150159054

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.623G>A; p.R208Q; 1:150158916-150158916

 oesophagus; upper_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.835C>T; p.R279W; 1:150159128-150159128

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.902A>C; p.N301T; 1:150159195-150159195

 pancreaspancreatic_intraepithelial_neoplasia_(PanIN)Substitution - Missense

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