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

Basic Information

Gene ID

5316

Name

PKNOX1

Synonymous

PBX/knotted 1 homeobox 1;PKNOX1;PBX/knotted 1 homeobox 1

Definition

PBX/knotted homeobox 1|Pbx regulating protein-1|homeobox protein PKNOX1|homeobox protein PREP-1|human homeobox-containing protein

Position

21q22.3

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

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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

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Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.06.

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.1237G>C; p.E413Q; 21:43030027-43030027

 breastcarcinomaSubstitution - Missense

c.813G>T; p.T271T; 21:43021395-43021395

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.649G>A; p.V217I; 21:43018159-43018159

 breastcarcinomaSubstitution - Missense

c.857A>G; p.Y286C; 21:43024878-43024878

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1016A>G; p.N339S; 21:43028791-43028791

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.106G>C; p.D36H; 21:43007545-43007545

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1027C>G; p.Q343E; 21:43028802-43028802

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.230C>A; p.S77Y; 21:43010103-43010103

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.817G>A; p.V273M; 21:43021399-43021399

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.608T>A; p.M203K; 21:43016993-43016993

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.697A>T; p.T233S; 21:43018207-43018207

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.695G>A; p.G232E; 21:43018205-43018205

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.931A>T; p.I311F; 21:43028706-43028706

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.522+1G>T; p.?; 21:43013239-43013239

 breastcarcinomaUnknown

c.268G>A; p.D90N; 21:43010141-43010141

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.149C>T; p.P50L; 21:43007588-43007588

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.658C>T; p.P220S; 21:43018168-43018168

 skinmalignant_melanomaSubstitution - Missense

c.842A>C; p.H281P; 21:43021424-43021424

 skinmalignant_melanomaSubstitution - Missense

c.477G>A; p.L159L; 21:43013193-43013193

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.477G>A; p.L159L; 21:43013193-43013193

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.793G>A; p.V265I; 21:43021375-43021375

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.947G>A; p.R316Q; 21:43028722-43028722

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.475C>G; p.L159V; 21:43013191-43013191

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.623-1G>T; p.?; 21:43018132-43018132

 lung; right_upper_lobecarcinoma; adenocarcinomaUnknown

c.1283T>C; p.V428A; 21:43030073-43030073

 bone; extraskeletalEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.109G>A; p.A37T; 21:43007548-43007548

 bone; tibiaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.889G>A; p.A297T; 21:43024910-43024910

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.614C>T; p.T205M; 21:43016999-43016999

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.193C>A; p.P65T; 21:43010066-43010066

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.287T>C; p.F96S; 21:43010160-43010160

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.499C>T; p.P167S; 21:43013215-43013215

 skinmalignant_melanomaSubstitution - Missense

c.1090A>G; p.M364V; 21:43028865-43028865

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.522+4C>T; p.?; 21:43013242-43013242

 ovaryother; neoplasmUnknown

c.1275C>T; p.S425S; 21:43030065-43030065

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.401A>T; p.K134M; 21:43013117-43013117

 livercarcinomaSubstitution - Missense

c.1036T>C; p.W346R; 21:43028811-43028811

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.70T>C; p.L24L; 21:43007509-43007509

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.689C>T; p.S230L; 21:43018199-43018199

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.724C>T; p.Q242*; 21:43021306-43021306

 skinmalignant_melanomaSubstitution - Nonsense

c.293G>A; p.R98K; 21:43010166-43010166

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1121C>T; p.T374M; 21:43029911-43029911

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.67G>T; p.E23*; 21:43007506-43007506

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.441T>C; p.I147I; 21:43013157-43013157

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.578C>A; p.A193E; 21:43016963-43016963

 thyroidcarcinomaSubstitution - Missense

c.1181C>T; p.A394V; 21:43029971-43029971

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1181C>T; p.A394V; 21:43029971-43029971

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.244G>C; p.E82Q; 21:43010117-43010117

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1033T>G; p.F345V; 21:43028808-43028808

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.256T>C; p.S86P; 21:43010129-43010129

 livercarcinomaSubstitution - Missense

c.652G>T; p.V218F; 21:43018162-43018162

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.652G>T; p.V218F; 21:43018162-43018162

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1019G>A; p.R340Q; 21:43028794-43028794

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.126T>C; p.P42P; 21:43007565-43007565

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.282A>C; p.E94D; 21:43010155-43010155

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.214G>A; p.E72K; 21:43010087-43010087

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.794T>C; p.V265A; 21:43021376-43021376

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.83A>G; p.Q28R; 21:43007522-43007522

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1269C>G; p.H423Q; 21:43030059-43030059

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.403G>C; p.V135L; 21:43013119-43013119

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.575C>T; p.P192L; 21:43016960-43016960

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.575C>T; p.P192L; 21:43016960-43016960

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.894G>A; p.Q298Q; 21:43024915-43024915

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1039C>T; p.P347S; 21:43028814-43028814

 prostatecarcinomaSubstitution - Missense

c.1298A>G; p.D433G; 21:43030088-43030088

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.222T>C; p.C74C; 21:43010095-43010095

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.72A>G; p.L24L; 21:43007511-43007511

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.514C>T; p.Q172*; 21:43013230-43013230

 oesophaguscarcinomaSubstitution - Nonsense

c.331G>C; p.D111H; 21:43010204-43010204

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.745C>A; p.L249I; 21:43021327-43021327

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.720+9G>A; p.?; 21:43018239-43018239

 livercarcinomaUnknown

c.260C>G; p.A87G; 21:43010133-43010133

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1051G>C; p.A351P; 21:43028826-43028826

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.622+4C>A; p.?; 21:43017011-43017011

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.409G>A; p.E137K; 21:43013125-43013125

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1148T>C; p.L383P; 21:43029938-43029938

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1148T>C; p.L383P; 21:43029938-43029938

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.577G>A; p.A193T; 21:43016962-43016962

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1247C>T; p.A416V; 21:43030037-43030037

 skinmalignant_melanomaSubstitution - Missense

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