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

Basic Information

Gene ID

301

Name

ANXA1

Synonymous

annexin A1;ANXA1;annexin A1

Definition

annexin I (lipocortin I)|annexin-1|calpactin II|calpactin-2|chromobindin-9|phospholipase A2 inhibitory protein

Position

9q21.13

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

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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 0.07.

The copy number variations for various cancers

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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.190A>G; p.T64A; 9:73159343-73159343

 skinmalignant_melanomaSubstitution - Missense

c.348G>A; p.A116A; 9:73160340-73160340

 pancreascarcinomaSubstitution - coding silent

c.348G>A; p.A116A; 9:73160340-73160340

 pancreascarcinomaSubstitution - coding silent

c.348G>A; p.A116A; 9:73160340-73160340

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.442G>T; p.E148*; 9:73160860-73160860

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.348G>A; p.A116A; 9:73160340-73160340

 pancreascarcinomaSubstitution - coding silent

c.371G>A; p.R124H; 9:73160363-73160363

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.863G>T; p.G288V; 9:73169033-73169033

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.863G>T; p.G288V; 9:73169033-73169033

 livercarcinomaSubstitution - Missense

c.371G>A; p.R124H; 9:73160363-73160363

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.801C>T; p.I267I; 9:73166191-73166191

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.333G>T; p.L111L; 9:73160325-73160325

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.622G>A; p.E208K; 9:73165125-73165125

 skin; neckmalignant_melanomaSubstitution - Missense

c.881A>G; p.K294R; 9:73169051-73169051

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.499G>T; p.D167Y; 9:73162805-73162805

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.570G>A; p.E190E; 9:73163490-73163490

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.107T>A; p.V36E; 9:73158735-73158735

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.799A>G; p.I267V; 9:73166189-73166189

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.442G>A; p.E148K; 9:73160860-73160860

 skinmalignant_melanomaSubstitution - Missense

c.721A>G; p.T241A; 9:73166111-73166111

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.678C>T; p.T226T; 9:73165181-73165181

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.80C>T; p.S27L; 9:73158708-73158708

 breastcarcinomaSubstitution - Missense

c.901G>A; p.V301I; 9:73169071-73169071

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.700C>T; p.R234C; 9:73165203-73165203

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.563G>A; p.R188Q; 9:73163483-73163483

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.923T>C; p.M308T; 9:73169093-73169093

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.563G>A; p.R188Q; 9:73163483-73163483

 breastcarcinomaSubstitution - Missense

c.893G>A; p.R298K; 9:73169063-73169063

 skinmalignant_melanomaSubstitution - Missense

c.370C>T; p.R124C; 9:73160362-73160362

 skinmalignant_melanomaSubstitution - Missense

c.97G>A; p.G33R; 9:73158725-73158725

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.255C>T; p.L85L; 9:73159408-73159408

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.924G>A; p.M308I; 9:73169094-73169094

 skinmalignant_melanomaSubstitution - Missense

c.255C>T; p.L85L; 9:73159408-73159408

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.37T>C; p.F13L; 9:73158572-73158572

 breastcarcinomaSubstitution - Missense

c.345A>G; p.P115P; 9:73160337-73160337

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.838G>T; p.E280*; 9:73167532-73167532

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.658G>A; p.V220M; 9:73165161-73165161

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.658G>A; p.V220M; 9:73165161-73165161

 livercarcinomaSubstitution - Missense

c.417G>T; p.E139D; 9:73160835-73160835

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.131C>T; p.P44L; 9:73158759-73158759

 skinmalignant_melanomaSubstitution - Missense

c.517T>C; p.S173P; 9:73162823-73162823

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.428C>T; p.S143L; 9:73160846-73160846

 breastcarcinomaSubstitution - Missense

c.215G>A; p.R72Q; 9:73159368-73159368

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.416A>T; p.E139V; 9:73160834-73160834

 livercarcinomaSubstitution - Missense

c.215G>A; p.R72Q; 9:73159368-73159368

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.310C>T; p.L104F; 9:73160302-73160302

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.431G>T; p.R144I; 9:73160849-73160849

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.556-2A>G; p.?; 9:73163474-73163474

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.768G>A; p.L256L; 9:73166158-73166158

 skinmalignant_melanomaSubstitution - coding silent

c.318G>C; p.E106D; 9:73160310-73160310

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.907C>T; p.R303C; 9:73169077-73169077

 central_nervous_system; braingliomaSubstitution - Missense

c.67C>T; p.Q23*; 9:73158695-73158695

 central_nervous_system; braingliomaSubstitution - Nonsense

c.864T>G; p.G288G; 9:73169034-73169034

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.864T>G; p.G288G; 9:73169034-73169034

 livercarcinomaSubstitution - coding silent

c.663C>T; p.F221F; 9:73165166-73165166

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.351A>G; p.Q117Q; 9:73160343-73160343

 thyroidcarcinomaSubstitution - coding silent

c.535G>A; p.A179T; 9:73162841-73162841

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.244delG; p.A82fs*15; 9:73159397-73159397

 pleurapulmonary_blastomaDeletion - Frameshift

c.831C>T; p.F277F; 9:73167525-73167525

 breastcarcinoma; ductal_carcinomaSubstitution - coding silent

c.831C>A; p.F277L; 9:73167525-73167525

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

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