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

Basic Information

Gene ID

95

Name

ACY1

Synonymous

aminoacylase 1;ACY1;aminoacylase 1

Definition

N-acyl-L-amino-acid amidohydrolase|acylase|aminoacylase-1|epididymis secretory protein Li 5

Position

3p21.1

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

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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 0.24.

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.68G>A; p.R23H; 3:51984132-51984132

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaSubstitution - Missense

c.1190delC; p.A399fs*>10; 3:51989038-51989038

 breastcarcinomaDeletion - Frameshift

c.741C>T; p.S247S; 3:51987342-51987342

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1159delG; p.V388fs*>21; 3:51989007-51989007

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.787A>G; p.N263D; 3:51987388-51987388

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.811G>C; p.A271P; 3:51987412-51987412

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.195G>A; p.W65*; 3:51985396-51985396

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1061C>T; p.A354V; 3:51988825-51988825

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1061C>T; p.A354V; 3:51988825-51988825

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.242C>T; p.T81M; 3:51985443-51985443

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.376A>G; p.R126G; 3:51986271-51986271

 skinmalignant_melanomaSubstitution - Missense

c.1108G>T; p.V370L; 3:51988956-51988956

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.499_500insTG; p.R168fs*1; 3:51986477-51986478

 ovarycarcinoma; serous_carcinomaInsertion - Frameshift

c.708-9A>G; p.?; 3:51987300-51987300

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.732A>G; p.K244K; 3:51987333-51987333

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.348C>T; p.C116C; 3:51985935-51985935

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.348C>T; p.C116C; 3:51985935-51985935

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.269A>G; p.H90R; 3:51985856-51985856

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.735G>T; p.E245D; 3:51987336-51987336

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.935C>T; p.P312L; 3:51988537-51988537

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1142A>G; p.E381G; 3:51988990-51988990

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.373G>A; p.V125M; 3:51986268-51986268

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.907C>A; p.L303I; 3:51987610-51987610

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.54G>C; p.Q18H; 3:51984118-51984118

 skin; armmalignant_melanomaSubstitution - Missense

c.307G>C; p.E103Q; 3:51985894-51985894

 breastcarcinomaSubstitution - Missense

c.393G>A; p.E131E; 3:51986288-51986288

 skinmalignant_melanomaSubstitution - coding silent

c.307G>C; p.E103Q; 3:51985894-51985894

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1143G>C; p.E381D; 3:51988991-51988991

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.1134G>A; p.R378R; 3:51988982-51988982

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.527G>A; p.G176D; 3:51986605-51986605

 skinmalignant_melanomaSubstitution - Missense

c.975A>T; p.A325A; 3:51988577-51988577

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.996G>T; p.K332N; 3:51988598-51988598

 adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningSubstitution - Missense

c.309G>T; p.E103D; 3:51985896-51985896

 peritoneum; appendixother; pseudomyxoma_peritoneiSubstitution - Missense

c.1185G>C; p.L395L; 3:51989033-51989033

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.1159G>T; p.G387W; 3:51989007-51989007

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.927G>A; p.W309*; 3:51988529-51988529

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Nonsense

c.582G>T; p.W194C; 3:51986660-51986660

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1126G>A; p.D376N; 3:51988974-51988974

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.576T>C; p.S192S; 3:51986654-51986654

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.835C>T; p.P279S; 3:51987436-51987436

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.835C>T; p.P279S; 3:51987436-51987436

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.653A>C; p.K218T; 3:51987057-51987057

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.278A>G; p.H93R; 3:51985865-51985865

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.482G>A; p.R161Q; 3:51986460-51986460

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1002-4A>C; p.?; 3:51988762-51988762

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.707G>C; p.R236T; 3:51987196-51987196

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.52C>T; p.Q18*; 3:51984116-51984116

 livercarcinoma; hepatocellular_carcinomaSubstitution - Nonsense

c.52C>T; p.Q18*; 3:51984116-51984116

 livercarcinoma; hepatocellular_carcinomaSubstitution - Nonsense

c.212C>T; p.T71I; 3:51985413-51985413

 thyroidcarcinomaSubstitution - Missense

c.683C>A; p.A228E; 3:51987172-51987172

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.815G>T; p.S272I; 3:51987416-51987416

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.870G>T; p.L290L; 3:51987573-51987573

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1048C>A; p.R350S; 3:51988812-51988812

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.18C>T; p.P6P; 3:51984082-51984082

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.1058G>A; p.R353H; 3:51988822-51988822

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.922-2A>C; p.?; 3:51988522-51988522

 kidneycarcinoma; papillary_renal_cell_carcinomaUnknown

c.1021G>C; p.E341Q; 3:51988785-51988785

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.385A>G; p.K129E; 3:51986280-51986280

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1141G>A; p.E381K; 3:51988989-51988989

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.77A>G; p.Q26R; 3:51984141-51984141

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

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