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

Basic Information

Gene ID

5080

Name

PAX6

Synonymous

paired box 6;PAX6;paired box 6

Definition

aniridia type II protein|oculorhombin|paired box homeotic gene-6|paired box protein Pax-6

Position

11p13

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 0.22.

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.270G>T; p.P90P; 11:31801690-31801690

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.288A>C; p.E96D; 11:31801672-31801672

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.994A>G; p.T332A; 11:31793518-31793518

 skinmalignant_melanomaSubstitution - Missense

c.701A>G; p.E234G; 11:31794653-31794653

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.384C>T; p.N128N; 11:31801576-31801576

 livercarcinomaSubstitution - coding silent

c.370G>A; p.G124R; 11:31801590-31801590

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1167_1168insC; p.H390fs*36; 11:31790767-31790768

 stomachcarcinoma; intestinal_adenocarcinomaInsertion - Frameshift

c.258T>C; p.G86G; 11:31801702-31801702

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.128C>T; p.S43F; 11:31802717-31802717

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1032G>A; p.P344P; 11:31793480-31793480

 pancreascarcinomaSubstitution - coding silent

c.1212C>A; p.G404G; 11:31790723-31790723

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.329C>T; p.S110F; 11:31801631-31801631

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.187T>C; p.S63P; 11:31801773-31801773

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.187T>C; p.S63P; 11:31801773-31801773

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.415A>G; p.R139G; 11:31800841-31800841

 central_nervous_system; medullaprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.1075-1G>A; p.?; 11:31790861-31790861

 stomachcarcinoma; adenocarcinomaUnknown

c.717G>A; p.L239L; 11:31794637-31794637

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1131G>A; p.S377S; 11:31790804-31790804

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1131G>A; p.S377S; 11:31790804-31790804

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.130C>T; p.R44*; 11:31802715-31802715

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.242G>T; p.R81I; 11:31801718-31801718

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.416G>T; p.R139I; 11:31800840-31800840

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.343G>A; p.E115K; 11:31801617-31801617

 skinmalignant_melanomaSubstitution - Missense

c.580C>A; p.Q194K; 11:31794774-31794774

 skinmalignant_melanomaSubstitution - Missense

c.1142G>A; p.R381Q; 11:31790793-31790793

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.600T>A; p.N200K; 11:31794754-31794754

 kidneyother; neoplasmSubstitution - Missense

c.17G>T; p.S6I; 11:31802828-31802828

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.965C>T; p.S322F; 11:31793547-31793547

 skinmalignant_melanomaSubstitution - Missense

c.410T>C; p.I137T; 11:31800846-31800846

 livercarcinomaSubstitution - Missense

c.421C>A; p.L141I; 11:31800835-31800835

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.34G>A; p.G12S; 11:31802811-31802811

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1230C>A; p.L410L; 11:31790015-31790015

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.474T>C; p.D158D; 11:31800782-31800782

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.734G>T; p.R245I; 11:31794105-31794105

 breastcarcinomaSubstitution - Missense

c.518G>A; p.R173H; 11:31800738-31800738

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1111A>T; p.M371L; 11:31790824-31790824

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.439G>A; p.E147K; 11:31800817-31800817

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.518G>A; p.R173H; 11:31800738-31800738

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.621C>T; p.N207N; 11:31794733-31794733

 breastcarcinomaSubstitution - coding silent

c.749A>C; p.D250A; 11:31794090-31794090

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.446A>G; p.Q149R; 11:31800810-31800810

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.597G>A; p.E199E; 11:31794757-31794757

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1272T>C; p.S424S; 11:31789973-31789973

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1166_1167insCC; p.M391fs*6; 11:31790768-31790769

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.555A>G; p.Q185Q; 11:31800701-31800701

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1166_1167insC; p.H390fs*36; 11:31790768-31790769

 large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.1166_1167insC; p.H390fs*36; 11:31790768-31790769

 large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.1031C>T; p.P344L; 11:31793481-31793481

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1166_1167insC; p.H390fs*36; 11:31790768-31790769

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1166_1167insC; p.H390fs*36; 11:31790768-31790769

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.870A>G; p.R290R; 11:31793740-31793740

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.492C>A; p.N164K; 11:31800764-31800764

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.53G>T; p.G18V; 11:31802792-31802792

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.595G>C; p.E199Q; 11:31794759-31794759

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.469T>C; p.Y157H; 11:31800787-31800787

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.95T>C; p.L32P; 11:31802750-31802750

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.123C>A; p.D41E; 11:31802722-31802722

 livercarcinomaSubstitution - Missense

c.959-2A>G; p.?; 11:31793555-31793555

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.817T>C; p.S273P; 11:31793793-31793793

 central_nervous_system; braingliomaSubstitution - Missense

c.399+1G>A; p.?; 11:31801560-31801560

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.372G>T; p.G124G; 11:31801588-31801588

 lungcarcinoma; undifferentiated_carcinomaSubstitution - coding silent

c.399+1G>A; p.?; 11:31801560-31801560

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.625G>A; p.E209K; 11:31794729-31794729

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.959-2A>T; p.?; 11:31793555-31793555

 lungcarcinoma; adenocarcinomaUnknown

c.1050C>T; p.T350T; 11:31793462-31793462

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.223_224insGAGACT; p.Y74_Y75ins*; 11:31801736-31801737

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaInsertion - In frame

c.236C>A; p.S79Y; 11:31801724-31801724

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.536G>T; p.G179V; 11:31800720-31800720

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1137T>C; p.N379N; 11:31790798-31790798

 skinmalignant_melanomaSubstitution - coding silent

c.400-2A>T; p.?; 11:31800858-31800858

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.569G>T; p.G190V; 11:31794785-31794785

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1089C>G; p.S363R; 11:31790846-31790846

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.753G>A; p.V251V; 11:31794086-31794086

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1202G>A; p.G401D; 11:31790733-31790733

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.267A>G; p.K89K; 11:31801693-31801693

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.831C>T; p.A277A; 11:31793779-31793779

 pancreasNSSubstitution - coding silent

c.738C>A; p.T246T; 11:31794101-31794101

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.122A>T; p.D41V; 11:31802723-31802723

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.628G>T; p.D210Y; 11:31794726-31794726

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.356G>T; p.R119I; 11:31801604-31801604

 lung; middle_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1075-1G>T; p.?; 11:31790861-31790861

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.593G>A; p.G198E; 11:31794761-31794761

 skinmalignant_melanomaSubstitution - Missense

c.242G>A; p.R81K; 11:31801718-31801718

 skin; trunkmalignant_melanomaSubstitution - Missense

c.866G>T; p.R289I; 11:31793744-31793744

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.736A>G; p.T246A; 11:31794103-31794103

 skinmalignant_melanomaSubstitution - Missense

c.560C>T; p.T187M; 11:31800696-31800696

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.583G>A; p.E195K; 11:31794771-31794771

 skin; neckmalignant_melanomaSubstitution - Missense

c.399C>T; p.S133S; 11:31801561-31801561

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.399C>T; p.S133S; 11:31801561-31801561

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.891T>C; p.S297S; 11:31793719-31793719

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.891T>C; p.S297S; 11:31793719-31793719

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.445C>G; p.Q149E; 11:31800811-31800811

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1208C>T; p.S403L; 11:31790727-31790727

 oesophagus; upper_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1057A>G; p.N353D; 11:31793455-31793455

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.256G>A; p.G86S; 11:31801704-31801704

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.480A>G; p.L160L; 11:31800776-31800776

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.635A>T; p.D212V; 11:31794719-31794719

 ovarycarcinomaSubstitution - Missense

c.622G>T; p.G208*; 11:31794732-31794732

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.278C>T; p.A93V; 11:31801682-31801682

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.520C>T; p.P174S; 11:31800736-31800736

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.725-1G>T; p.?; 11:31794115-31794115

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.1266C>T; p.P422P; 11:31789979-31789979

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.502G>A; p.G168R; 11:31800754-31800754

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.323G>A; p.C108Y; 11:31801637-31801637

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.116C>T; p.P39L; 11:31802729-31802729

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1159_1160insCC; p.M391fs*6; 11:31790775-31790776

 large_intestine; coloncarcinomaInsertion - Frameshift

c.135T>A; p.I45I; 11:31802710-31802710

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1166delC; p.P389fs*7; 11:31790769-31790769

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1166delC; p.P389fs*7; 11:31790769-31790769

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1166delC; p.P389fs*7; 11:31790769-31790769

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1166delC; p.P389fs*7; 11:31790769-31790769

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1166delC; p.P389fs*7; 11:31790769-31790769

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.1166delC; p.P389fs*7; 11:31790769-31790769

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.463G>A; p.G155S; 11:31800793-31800793

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1166delC; p.P389fs*7; 11:31790769-31790769

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1166delC; p.P389fs*7; 11:31790769-31790769

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1166delC; p.P389fs*7; 11:31790769-31790769

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1166delC; p.P389fs*7; 11:31790769-31790769

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1166delC; p.P389fs*7; 11:31790769-31790769

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1166delC; p.P389fs*7; 11:31790769-31790769

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1166delC; p.P389fs*7; 11:31790769-31790769

 lungcarcinoma; adenocarcinomaDeletion - Frameshift

c.1166delC; p.P389fs*7; 11:31790769-31790769

 skin; head_neckcarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.1166delC; p.P389fs*7; 11:31790769-31790769

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1166delC; p.P389fs*7; 11:31790769-31790769

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1166delC; p.P389fs*7; 11:31790769-31790769

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1166delC; p.P389fs*7; 11:31790769-31790769

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.950C>T; p.T317I; 11:31793660-31793660

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.649C>G; p.R217G; 11:31794705-31794705

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1022G>A; p.S341N; 11:31793490-31793490

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1022G>A; p.S341N; 11:31793490-31793490

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.457G>A; p.A153T; 11:31800799-31800799

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1033C>T; p.P345S; 11:31793479-31793479

 prostatecarcinomaSubstitution - Missense

c.650G>A; p.R217Q; 11:31794704-31794704

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.655C>T; p.Q219*; 11:31794699-31794699

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.433G>A; p.A145T; 11:31800823-31800823

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.565+1G>T; p.?; 11:31800690-31800690

 lungcarcinoma; adenocarcinomaUnknown

c.793G>A; p.E265K; 11:31794046-31794046

 skinmalignant_melanomaSubstitution - Missense

c.327G>A; p.P109P; 11:31801633-31801633

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.949_956delACCACACC; p.T317fs*35; 11:31793654-31793661

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.949_956delACCACACC; p.T317fs*35; 11:31793654-31793661

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.56G>T; p.R19L; 11:31802789-31802789

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.112C>A; p.R38R; 11:31802733-31802733

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.286G>A; p.E96K; 11:31801674-31801674

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.801A>G; p.R267R; 11:31794038-31794038

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

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