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

Basic Information

Gene ID

56666

Name

PANX2

Synonymous

pannexin 2;PANX2;pannexin 2

Definition

pannexin-2

Position

22q13.33

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.178C>T; p.L60L; 22:50170908-50170908

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1855C>T; p.R619*; 22:50179098-50179098

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1280G>T; p.R427L; 22:50177992-50177992

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1902G>A; p.S634S; 22:50179230-50179230

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1280G>T; p.R427L; 22:50177992-50177992

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.1902G>A; p.S634S; 22:50179230-50179230

 livercarcinomaSubstitution - coding silent

c.1079C>T; p.S360L; 22:50177791-50177791

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1714A>G; p.I572V; 22:50178957-50178957

 thyroidother; neoplasmSubstitution - Missense

c.650G>A; p.R217H; 22:50177362-50177362

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.778G>A; p.A260T; 22:50177490-50177490

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.778G>A; p.A260T; 22:50177490-50177490

 livercarcinomaSubstitution - Missense

c.778G>A; p.A260T; 22:50177490-50177490

 livercarcinomaSubstitution - Missense

c.539T>G; p.I180S; 22:50177251-50177251

 thyroidother; neoplasmSubstitution - Missense

c.649C>T; p.R217C; 22:50177361-50177361

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.193C>A; p.L65M; 22:50170923-50170923

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.415G>A; p.A139T; 22:50177127-50177127

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1665A>G; p.L555L; 22:50178377-50178377

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1665A>G; p.L555L; 22:50178377-50178377

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1665A>G; p.L555L; 22:50178377-50178377

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1665A>G; p.L555L; 22:50178377-50178377

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1665A>G; p.L555L; 22:50178377-50178377

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1665A>G; p.L555L; 22:50178377-50178377

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1199C>T; p.S400L; 22:50177911-50177911

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1665A>G; p.L555L; 22:50178377-50178377

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1665A>G; p.L555L; 22:50178377-50178377

 thyroidother; neoplasmSubstitution - coding silent

c.1665A>G; p.L555L; 22:50178377-50178377

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1665A>G; p.L555L; 22:50178377-50178377

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.569G>A; p.R190H; 22:50177281-50177281

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.514C>T; p.R172C; 22:50177226-50177226

 pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.514C>T; p.R172C; 22:50177226-50177226

 skinmalignant_melanomaSubstitution - Missense

c.514C>T; p.R172C; 22:50177226-50177226

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.789G>A; p.A263A; 22:50177501-50177501

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.554C>T; p.P185L; 22:50177266-50177266

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1307G>A; p.S436N; 22:50178019-50178019

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.369C>T; p.F123F; 22:50177081-50177081

 thyroidcarcinomaSubstitution - coding silent

c.560T>G; p.I187S; 22:50177272-50177272

 thyroidother; neoplasmSubstitution - Missense

c.508G>A; p.E170K; 22:50177220-50177220

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.444G>A; p.T148T; 22:50177156-50177156

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1805C>T; p.P602L; 22:50179048-50179048

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1245C>A; p.D415E; 22:50177957-50177957

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.714C>T; p.S238S; 22:50177426-50177426

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.223G>A; p.A75T; 22:50170953-50170953

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1819A>C; p.S607R; 22:50179062-50179062

 thyroidother; neoplasmSubstitution - Missense

c.591G>A; p.E197E; 22:50177303-50177303

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.1252G>A; p.A418T; 22:50177964-50177964

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1715T>A; p.I572N; 22:50178958-50178958

 thyroidother; neoplasmSubstitution - Missense

c.843C>T; p.L281L; 22:50177555-50177555

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1832C>T; p.A611V; 22:50179075-50179075

 pancreascarcinomaSubstitution - Missense

c.1871C>T; p.P624L; 22:50179114-50179114

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1718C>T; p.P573L; 22:50178961-50178961

 thyroidother; neoplasmSubstitution - Missense

c.1892+4C>T; p.?; 22:50179139-50179139

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.1630G>A; p.G544R; 22:50178342-50178342

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.894G>A; p.L298L; 22:50177606-50177606

 breastcarcinomaSubstitution - coding silent

c.995C>T; p.T332M; 22:50177707-50177707

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1229A>C; p.N410T; 22:50177941-50177941

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.738C>A; p.C246*; 22:50177450-50177450

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.877G>A; p.V293M; 22:50177589-50177589

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1599C>T; p.P533P; 22:50178311-50178311

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1817C>A; p.A606D; 22:50179060-50179060

 thyroidother; neoplasmSubstitution - Missense

c.863G>A; p.R288H; 22:50177575-50177575

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.849C>T; p.S283S; 22:50177561-50177561

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1789G>A; p.A597T; 22:50179032-50179032

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1861G>A; p.A621T; 22:50179104-50179104

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1861G>A; p.A621T; 22:50179104-50179104

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1716C>T; p.I572I; 22:50178959-50178959

 thyroidother; neoplasmSubstitution - coding silent

c.1154C>T; p.A385V; 22:50177866-50177866

 pancreascarcinomaSubstitution - Missense

c.266G>A; p.R89H; 22:50176978-50176978

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.266G>A; p.R89H; 22:50176978-50176978

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1755delG; p.G587fs*17; 22:50178998-50178998

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1907C>T; p.P636L; 22:50179235-50179235

 skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.812C>T; p.A271V; 22:50177524-50177524

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1491T>C; p.P497P; 22:50178203-50178203

 livercarcinomaSubstitution - coding silent

c.1193G>A; p.R398H; 22:50177905-50177905

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.378C>T; p.Y126Y; 22:50177090-50177090

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1792C>T; p.P598S; 22:50179035-50179035

 central_nervous_system; brainglioma; oligodendroglioma_Grade_IIISubstitution - Missense

c.1774C>T; p.R592C; 22:50179017-50179017

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1774C>T; p.R592C; 22:50179017-50179017

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.651C>T; p.R217R; 22:50177363-50177363

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.210C>T; p.F70F; 22:50170940-50170940

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1388C>T; p.A463V; 22:50178100-50178100

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1515T>C; p.P505P; 22:50178227-50178227

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1515T>C; p.P505P; 22:50178227-50178227

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1515T>C; p.P505P; 22:50178227-50178227

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1515T>C; p.P505P; 22:50178227-50178227

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1515T>C; p.P505P; 22:50178227-50178227

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1515T>C; p.P505P; 22:50178227-50178227

 thyroidother; neoplasmSubstitution - coding silent

c.1515T>C; p.P505P; 22:50178227-50178227

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1515T>C; p.P505P; 22:50178227-50178227

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1515T>C; p.P505P; 22:50178227-50178227

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1515T>C; p.P505P; 22:50178227-50178227

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1515T>C; p.P505P; 22:50178227-50178227

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.798C>T; p.D266D; 22:50177510-50177510

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.238T>C; p.Y80H; 22:50176950-50176950

 breastcarcinomaSubstitution - Missense

c.474G>T; p.L158L; 22:50177186-50177186

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.265C>T; p.R89C; 22:50176977-50176977

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.646C>T; p.R216C; 22:50177358-50177358

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.570C>T; p.R190R; 22:50177282-50177282

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1531C>T; p.R511C; 22:50178243-50178243

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1531C>T; p.R511C; 22:50178243-50178243

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1531C>T; p.R511C; 22:50178243-50178243

 large_intestine; coloncarcinomaSubstitution - Missense

c.1531C>T; p.R511C; 22:50178243-50178243

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1025G>A; p.C342Y; 22:50177737-50177737

 pancreascarcinomaSubstitution - Missense

c.1401G>A; p.T467T; 22:50178113-50178113

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.311G>A; p.R104Q; 22:50177023-50177023

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.814G>A; p.G272R; 22:50177526-50177526

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.846G>A; p.P282P; 22:50177558-50177558

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.773C>T; p.T258I; 22:50177485-50177485

 skinmalignant_melanomaSubstitution - Missense

c.315C>T; p.D105D; 22:50177027-50177027

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.897C>T; p.C299C; 22:50177609-50177609

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.27G>A; p.A9A; 22:50170757-50170757

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1767C>T; p.F589F; 22:50179010-50179010

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.317C>T; p.A106V; 22:50177029-50177029

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.381G>T; p.A127A; 22:50177093-50177093

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.1818C>T; p.A606A; 22:50179061-50179061

 thyroidother; neoplasmSubstitution - coding silent

c.779C>T; p.A260V; 22:50177491-50177491

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1666G>A; p.G556S; 22:50178378-50178378

 ovaryother; neoplasmSubstitution - Missense

c.821C>T; p.A274V; 22:50177533-50177533

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.827G>A; p.R276H; 22:50177539-50177539

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1848C>T; p.I616I; 22:50179091-50179091

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.654C>T; p.G218G; 22:50177366-50177366

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.588C>T; p.I196I; 22:50177300-50177300

 skinmalignant_melanomaSubstitution - coding silent

c.966C>T; p.F322F; 22:50177678-50177678

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.966C>T; p.F322F; 22:50177678-50177678

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1539C>A; p.F513L; 22:50178251-50178251

 ovaryother; neoplasmSubstitution - Missense

c.1064G>A; p.R355H; 22:50177776-50177776

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1892+10C>T; p.?; 22:50179145-50179145

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.212C>G; p.T71S; 22:50170942-50170942

 central_nervous_system; braingliomaSubstitution - Missense

c.655C>T; p.R219C; 22:50177367-50177367

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.275C>T; p.A92V; 22:50176987-50176987

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.954C>A; p.S318R; 22:50177666-50177666

 bone; pelvisEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.440C>T; p.S147F; 22:50177152-50177152

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.1001G>A; p.R334Q; 22:50177713-50177713

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.379G>A; p.A127T; 22:50177091-50177091

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.379G>A; p.A127T; 22:50177091-50177091

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1833G>A; p.A611A; 22:50179076-50179076

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1011C>T; p.R337R; 22:50177723-50177723

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1535A>G; p.H512R; 22:50178247-50178247

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.786C>A; p.G262G; 22:50177498-50177498

 pancreascarcinomaSubstitution - coding silent

c.1860C>T; p.N620N; 22:50179103-50179103

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.519G>A; p.A173A; 22:50177231-50177231

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.850G>A; p.V284M; 22:50177562-50177562

 skinmalignant_melanomaSubstitution - Missense

c.1319C>T; p.P440L; 22:50178031-50178031

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

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