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

Basic Information

Gene ID

563

Name

AZGP1

Synonymous

alpha-2-glycoprotein 1, zinc-binding;AZGP1;alpha-2-glycoprotein 1, zinc-binding

Definition

Alpha-2-glycoprotein, zinc|Zn-alpha2-glycoprotein|zinc-alpha-2-glycoprotein|zn-alpha-2-GP|zn-alpha-2-glycoprotein

Position

7q22.1

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 0.10.

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.704T>G; p.I235S; 7:99967196-99967196

 livercarcinomaSubstitution - Missense

c.704T>G; p.I235S; 7:99967196-99967196

 livercarcinomaSubstitution - Missense

c.461G>C; p.W154S; 7:99968307-99968307

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.548A>G; p.E183G; 7:99968220-99968220

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.163G>T; p.D55Y; 7:99971920-99971920

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.338-10delG; p.?; 7:99968440-99968440

 NSmalignant_melanomaUnknown

c.12G>A; p.M4I; 7:99976009-99976009

 pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.386G>A; p.R129K; 7:99968382-99968382

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.703delA; p.I235fs*>64; 7:99967197-99967197

 central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - Frameshift

c.99C>A; p.I33I; 7:99971984-99971984

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.378G>T; p.E126D; 7:99968390-99968390

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.359G>A; p.R120K; 7:99968409-99968409

 skinmalignant_melanomaSubstitution - Missense

c.337G>A; p.G113R; 7:99971746-99971746

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.337G>A; p.G113R; 7:99971746-99971746

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.820G>A; p.D274N; 7:99967080-99967080

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.18T>C; p.P6P; 7:99976003-99976003

 breastcarcinomaSubstitution - coding silent

c.175T>G; p.F59V; 7:99971908-99971908

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.228G>T; p.Q76H; 7:99971855-99971855

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.76+10G>T; p.?; 7:99975935-99975935

 ovaryother; neoplasmUnknown

c.260G>A; p.S87N; 7:99971823-99971823

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.91A>T; p.T31S; 7:99971992-99971992

 thyroidother; neoplasmSubstitution - Missense

c.564G>A; p.A188A; 7:99968204-99968204

 skinmalignant_melanomaSubstitution - coding silent

c.283G>A; p.D95N; 7:99971800-99971800

 skinmalignant_melanomaSubstitution - Missense

c.80G>A; p.R27H; 7:99972003-99972003

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.755G>A; p.G252E; 7:99967145-99967145

 skinmalignant_melanomaSubstitution - Missense

c.33G>A; p.L11L; 7:99975988-99975988

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.137C>T; p.A46V; 7:99971946-99971946

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.328G>A; p.D110N; 7:99971755-99971755

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.297G>T; p.E99D; 7:99971786-99971786

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.136G>A; p.A46T; 7:99971947-99971947

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.362T>G; p.F121C; 7:99968406-99968406

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.751C>T; p.R251W; 7:99967149-99967149

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.874G>C; p.V292L; 7:99967026-99967026

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.336C>T; p.N112N; 7:99971747-99971747

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.336C>T; p.N112N; 7:99971747-99971747

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.16C>T; p.P6S; 7:99976005-99976005

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.90G>C; p.L30L; 7:99971993-99971993

 thyroidother; neoplasmSubstitution - coding silent

c.81T>G; p.R27R; 7:99972002-99972002

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.613+1G>A; p.?; 7:99968154-99968154

 stomachcarcinoma; adenocarcinomaUnknown

c.613+1G>A; p.?; 7:99968154-99968154

 stomachcarcinoma; adenocarcinomaUnknown

c.288C>G; p.I96M; 7:99971795-99971795

 thyroidcarcinomaSubstitution - Missense

c.725C>T; p.A242V; 7:99967175-99967175

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.790T>G; p.S264A; 7:99967110-99967110

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.533C>T; p.A178V; 7:99968235-99968235

 breastcarcinomaSubstitution - Missense

c.772G>A; p.G258R; 7:99967128-99967128

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.161A>T; p.N54I; 7:99971922-99971922

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.397G>C; p.A133P; 7:99968371-99968371

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.327C>T; p.N109N; 7:99971756-99971756

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.327C>T; p.N109N; 7:99971756-99971756

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.621C>A; p.P207P; 7:99967279-99967279

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.582G>A; p.L194L; 7:99968186-99968186

 skinmalignant_melanomaSubstitution - coding silent

c.397G>A; p.A133T; 7:99968371-99968371

 prostatecarcinomaSubstitution - Missense

c.134C>T; p.P45L; 7:99971949-99971949

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.164A>G; p.D55G; 7:99971919-99971919

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.721C>T; p.R241W; 7:99967179-99967179

 skinmalignant_melanomaSubstitution - Missense

c.418G>A; p.D140N; 7:99968350-99968350

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.418G>A; p.D140N; 7:99968350-99968350

 skinmalignant_melanomaSubstitution - Missense

c.393C>T; p.S131S; 7:99968375-99968375

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.393C>T; p.S131S; 7:99968375-99968375

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.837C>T; p.S279S; 7:99967063-99967063

 skinmalignant_melanomaSubstitution - coding silent

c.832T>G; p.Y278D; 7:99967068-99967068

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.295G>A; p.E99K; 7:99971788-99971788

 skinmalignant_melanomaSubstitution - Missense

c.761T>A; p.V254D; 7:99967139-99967139

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.375C>T; p.I125I; 7:99968393-99968393

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.21C>A; p.V7V; 7:99976000-99976000

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.462G>A; p.W154*; 7:99968306-99968306

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.462G>A; p.W154*; 7:99968306-99968306

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.341C>T; p.S114F; 7:99968427-99968427

 skinmalignant_melanomaSubstitution - Missense

c.319T>C; p.Y107H; 7:99971764-99971764

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.292A>G; p.M98V; 7:99971791-99971791

 central_nervous_system; temporoparietalglioma; astrocytoma_Grade_IVSubstitution - Missense

c.23T>A; p.L8Q; 7:99975998-99975998

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.563C>T; p.A188V; 7:99968205-99968205

 oesophaguscarcinomaSubstitution - Missense

c.779G>A; p.G260D; 7:99967121-99967121

 oesophaguscarcinomaSubstitution - Missense

c.294G>A; p.M98I; 7:99971789-99971789

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.61C>A; p.Q21K; 7:99975960-99975960

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.572G>A; p.R191Q; 7:99968196-99968196

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.467C>T; p.P156L; 7:99968301-99968301

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.394G>T; p.G132*; 7:99968374-99968374

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.757G>T; p.D253Y; 7:99967143-99967143

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.571C>T; p.R191W; 7:99968197-99968197

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.697G>A; p.G233R; 7:99967203-99967203

 skinmalignant_melanomaSubstitution - Missense

c.465C>T; p.V155V; 7:99968303-99968303

 skinmalignant_melanomaSubstitution - coding silent

c.131T>A; p.V44D; 7:99971952-99971952

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

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