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

Basic Information

Gene ID

25833

Name

POU2F3

Synonymous

POU class 2 homeobox 3;POU2F3;POU class 2 homeobox 3

Definition

POU domain transcription factor OCT11a|POU domain, class 2, transcription factor 3|octamer-binding protein 11|octamer-binding transcription factor 11|transcription factor PLA-1|transcription factor Skn-1

Position

11q23.3

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 0.08.

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.454C>T; p.H152Y; 11:120305039-120305039

 salivary_glandcarcinoma; adenoid_cystic_carcinomaSubstitution - Missense

c.454C>T; p.H152Y; 11:120305039-120305039

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.707A>G; p.N236S; 11:120305723-120305723

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.471A>T; p.G157G; 11:120305056-120305056

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.133-2A>G; p.?; 11:120298263-120298263

 stomachcarcinoma; adenocarcinomaUnknown

c.70C>T; p.R24C; 11:120246490-120246490

 central_nervous_system; brainstemglioma; astrocytoma_Grade_IVSubstitution - Missense

c.70C>T; p.R24C; 11:120246490-120246490

 skin; armmalignant_melanomaSubstitution - Missense

c.132G>T; p.Q44H; 11:120269244-120269244

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1245_1247delCTC; p.S416delS; 11:120317338-120317340

 skin; head_neckcarcinoma; squamous_cell_carcinomaDeletion - In frame

c.920G>A; p.S307N; 11:120309438-120309438

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.565G>A; p.E189K; 11:120305150-120305150

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.565G>A; p.E189K; 11:120305150-120305150

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.466C>T; p.P156S; 11:120305051-120305051

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1158G>A; p.G386G; 11:120317251-120317251

 skinmalignant_melanomaSubstitution - coding silent

c.1234G>A; p.A412T; 11:120317327-120317327

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.574G>A; p.E192K; 11:120305159-120305159

 skin; anklemalignant_melanoma; acral_lentiginousSubstitution - Missense

c.219C>T; p.S73S; 11:120298351-120298351

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.578A>C; p.K193T; 11:120305163-120305163

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1032C>T; p.A344A; 11:120309550-120309550

 breastcarcinomaSubstitution - coding silent

c.780G>A; p.P260P; 11:120307489-120307489

 large_intestine; colonNSSubstitution - coding silent

c.780G>A; p.P260P; 11:120307489-120307489

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.29-6C>G; p.?; 11:120246443-120246443

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaUnknown

c.1170G>A; p.R390R; 11:120317263-120317263

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.237G>A; p.G79G; 11:120298369-120298369

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.996A>G; p.R332R; 11:120309514-120309514

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.192C>T; p.H64H; 11:120298324-120298324

 thyroidcarcinomaSubstitution - coding silent

c.961G>A; p.E321K; 11:120309479-120309479

 skinmalignant_melanomaSubstitution - Missense

c.960G>A; p.M320I; 11:120309478-120309478

 skinmalignant_melanomaSubstitution - Missense

c.864C>T; p.I288I; 11:120307573-120307573

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.864C>T; p.I288I; 11:120307573-120307573

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.864C>T; p.I288I; 11:120307573-120307573

 bone; pelvisEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.723C>A; p.N241K; 11:120305739-120305739

 pancreascarcinomaSubstitution - Missense

c.941T>C; p.I314T; 11:120309459-120309459

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1018A>G; p.N340D; 11:120309536-120309536

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.510C>T; p.L170L; 11:120305095-120305095

 skinmalignant_melanomaSubstitution - coding silent

c.845G>A; p.R282K; 11:120307554-120307554

 skinmalignant_melanomaSubstitution - Missense

c.865G>A; p.E289K; 11:120307574-120307574

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.865G>A; p.E289K; 11:120307574-120307574

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.769+2T>A; p.?; 11:120305787-120305787

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.502C>T; p.Q168*; 11:120305087-120305087

 skinmalignant_melanomaSubstitution - Nonsense

c.522G>T; p.K174N; 11:120305107-120305107

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.473C>T; p.S158F; 11:120305058-120305058

 skinmalignant_melanomaSubstitution - Missense

c.145G>T; p.D49Y; 11:120298277-120298277

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.279G>A; p.P93P; 11:120299644-120299644

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.55G>A; p.D19N; 11:120246475-120246475

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.428C>T; p.P143L; 11:120302352-120302352

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.972G>A; p.V324V; 11:120309490-120309490

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.133-1G>C; p.?; 11:120298264-120298264

 central_nervous_system; brainglioma; astrocytoma_Grade_IVUnknown

c.427delC; p.P143fs*18; 11:120302351-120302351

 prostateadenomaDeletion - Frameshift

c.481G>A; p.E161K; 11:120305066-120305066

 skinmalignant_melanomaSubstitution - Missense

c.1303C>A; p.L435I; 11:120318384-120318384

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1303C>A; p.L435I; 11:120318384-120318384

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.854_855GG>AA; p.R285Q; 11:120307563-120307564

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.645G>A; p.A215A; 11:120305661-120305661

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.666C>T; p.N222N; 11:120305682-120305682

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1247C>T; p.S416F; 11:120317340-120317340

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.260A>G; p.D87G; 11:120299625-120299625

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.132+8C>T; p.?; 11:120269252-120269252

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.725T>C; p.M242T; 11:120305741-120305741

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.106C>T; p.R36*; 11:120269218-120269218

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.78T>A; p.T26T; 11:120246498-120246498

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.174C>T; p.L58L; 11:120298306-120298306

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.107G>A; p.R36Q; 11:120269219-120269219

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.107G>A; p.R36Q; 11:120269219-120269219

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1222A>T; p.N408Y; 11:120317315-120317315

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.376C>A; p.L126I; 11:120302300-120302300

 breastcarcinomaSubstitution - Missense

c.904G>T; p.D302Y; 11:120307613-120307613

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.258G>A; p.Q86Q; 11:120298390-120298390

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.414C>T; p.L138L; 11:120302338-120302338

 ovaryother; neoplasmSubstitution - coding silent

c.151A>G; p.S51G; 11:120298283-120298283

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1169G>A; p.R390K; 11:120317262-120317262

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1169G>A; p.R390K; 11:120317262-120317262

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1169G>A; p.R390K; 11:120317262-120317262

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1169G>A; p.R390K; 11:120317262-120317262

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1169G>A; p.R390K; 11:120317262-120317262

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1169G>A; p.R390K; 11:120317262-120317262

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1169G>A; p.R390K; 11:120317262-120317262

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1268C>T; p.S423L; 11:120317361-120317361

 skinmalignant_melanomaSubstitution - Missense

c.249C>T; p.S83S; 11:120298381-120298381

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.588G>A; p.K196K; 11:120305173-120305173

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.220G>A; p.G74R; 11:120298352-120298352

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.258+2T>C; p.?; 11:120298392-120298392

 stomachcarcinoma; adenocarcinomaUnknown

c.1010A>G; p.K337R; 11:120309528-120309528

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.141C>T; p.T47T; 11:120298273-120298273

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.908A>G; p.N303S; 11:120309426-120309426

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.239T>A; p.L80Q; 11:120298371-120298371

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1075C>T; p.P359S; 11:120315367-120315367

 pancreascarcinomaSubstitution - Missense

c.377T>C; p.L126P; 11:120302301-120302301

 large_intestine; colonNSSubstitution - Missense

c.389C>T; p.P130L; 11:120302313-120302313

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1017C>T; p.I339I; 11:120309535-120309535

 skinmalignant_melanomaSubstitution - coding silent

c.46G>A; p.D16N; 11:120246466-120246466

 skinmalignant_melanomaSubstitution - Missense

c.994C>T; p.R332*; 11:120309512-120309512

 ovarycarcinoma; serous_carcinomaSubstitution - Nonsense

c.1245delC; p.S416fs*>21; 11:120317338-120317338

 skin; head_neckcarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.1139C>T; p.T380M; 11:120317232-120317232

 prostateadenomaSubstitution - Missense

c.203G>A; p.G68E; 11:120298335-120298335

 skinmalignant_melanomaSubstitution - Missense

c.812A>C; p.Y271S; 11:120307521-120307521

 thyroidother; neoplasmSubstitution - Missense

c.182G>A; p.R61Q; 11:120298314-120298314

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1134A>G; p.T378T; 11:120315426-120315426

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.185C>T; p.P62L; 11:120298317-120298317

 skinmalignant_melanomaSubstitution - Missense

c.936C>T; p.S312S; 11:120309454-120309454

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.290T>C; p.L97P; 11:120299655-120299655

 skinmalignant_melanomaSubstitution - Missense

c.631G>A; p.D211N; 11:120305647-120305647

 skinmalignant_melanomaSubstitution - Missense

c.631G>A; p.D211N; 11:120305647-120305647

 skinmalignant_melanomaSubstitution - Missense

c.62C>T; p.T21M; 11:120246482-120246482

 prostatecarcinomaSubstitution - Missense

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