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

Basic Information

Gene ID

5562

Name

PRKAA1

Synonymous

protein kinase, AMP-activated, alpha 1 catalytic subunit;PRKAA1;protein kinase, AMP-activated, alpha 1 catalytic subunit

Definition

5'-AMP-activated protein kinase catalytic subunit alpha-1|5'-AMP-activated protein kinase, catalytic alpha-1 chain|ACACA kinase|AMP -activate kinase alpha 1 subunit|AMP-activated protein kinase, catalytic, alpha-1|AMPK alpha 1|AMPK subunit alpha-1|HMGCR k

Position

5p12

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 0.13.

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.1305G>A; p.W435*; 5:40764755-40764755

 skinmalignant_melanomaSubstitution - Nonsense

c.274C>T; p.Q92*; 5:40775499-40775499

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Nonsense

c.274C>T; p.Q92*; 5:40775499-40775499

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.1048G>A; p.D350N; 5:40765012-40765012

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.62G>T; p.R21L; 5:40798128-40798128

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.993G>C; p.L331F; 5:40765067-40765067

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1633G>T; p.E545*; 5:40762825-40762825

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1633G>T; p.E545*; 5:40762825-40762825

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.5G>A; p.R2H; 5:40798185-40798185

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1221G>A; p.W407*; 5:40764839-40764839

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1309-2A>G; p.?; 5:40764642-40764642

 kidneycarcinoma; clear_cell_renal_cell_carcinomaUnknown

c.660T>C; p.C220C; 5:40767627-40767627

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.660T>C; p.C220C; 5:40767627-40767627

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.811A>C; p.K271Q; 5:40767476-40767476

 breastcarcinomaSubstitution - Missense

c.1512A>G; p.Q504Q; 5:40762946-40762946

 livercarcinomaSubstitution - coding silent

c.1512A>G; p.Q504Q; 5:40762946-40762946

 livercarcinomaSubstitution - coding silent

c.52C>T; p.H18Y; 5:40798138-40798138

 pancreascarcinomaSubstitution - Missense

c.1337G>A; p.R446Q; 5:40764612-40764612

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.457C>T; p.P153S; 5:40771770-40771770

 ovaryother; neoplasmSubstitution - Missense

c.1589C>G; p.S530C; 5:40762869-40762869

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.318T>C; p.Y106Y; 5:40775455-40775455

 breastcarcinomaSubstitution - coding silent

c.1669C>A; p.L557I; 5:40762789-40762789

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1157G>A; p.R386H; 5:40764903-40764903

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1007A>G; p.H336R; 5:40765053-40765053

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.819C>A; p.I273I; 5:40767468-40767468

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.179G>A; p.R60Q; 5:40777535-40777535

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.114C>T; p.F38F; 5:40798076-40798076

 breastcarcinomaSubstitution - coding silent

c.1238G>C; p.S413T; 5:40764822-40764822

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.693A>C; p.P231P; 5:40767594-40767594

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.47A>G; p.Q16R; 5:40798143-40798143

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.47A>G; p.Q16R; 5:40798143-40798143

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.249G>A; p.R83R; 5:40777465-40777465

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.870G>T; p.E290D; 5:40765190-40765190

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1424G>A; p.R475H; 5:40764525-40764525

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.128-1G>A; p.?; 5:40777587-40777587

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.1213G>A; p.A405T; 5:40764847-40764847

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1197C>T; p.H399H; 5:40764863-40764863

 oesophaguscarcinomaSubstitution - coding silent

c.1383G>A; p.Q461Q; 5:40764566-40764566

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1383G>A; p.Q461Q; 5:40764566-40764566

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1422C>T; p.F474F; 5:40764527-40764527

 skinmalignant_melanomaSubstitution - coding silent

c.736C>G; p.Q246E; 5:40767551-40767551

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1062G>A; p.A354A; 5:40764998-40764998

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1061C>T; p.A354V; 5:40764999-40764999

 central_nervous_system; braingliomaSubstitution - Missense

c.736C>G; p.Q246E; 5:40767551-40767551

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1062G>A; p.A354A; 5:40764998-40764998

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.1048G>T; p.D350Y; 5:40765012-40765012

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.509-3C>G; p.?; 5:40769506-40769506

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.241C>G; p.L81V; 5:40777473-40777473

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.814G>T; p.D272Y; 5:40767473-40767473

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.749C>A; p.P250H; 5:40767538-40767538

 thyroidother; neoplasmSubstitution - Missense

c.36A>C; p.T12T; 5:40798154-40798154

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1180C>G; p.P394A; 5:40764880-40764880

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.803C>T; p.A268V; 5:40767484-40767484

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.420T>C; p.Y140Y; 5:40771807-40771807

 breastcarcinomaSubstitution - coding silent

c.407C>T; p.S136F; 5:40771820-40771820

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1438G>A; p.E480K; 5:40763020-40763020

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1451C>A; p.A484D; 5:40763007-40763007

 breastcarcinomaSubstitution - Missense

c.1156C>T; p.R386C; 5:40764904-40764904

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.634G>T; p.G212W; 5:40767653-40767653

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.191G>A; p.R64Q; 5:40777523-40777523

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

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