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

Basic Information

Gene ID

43

Name

ACHE

Synonymous

acetylcholinesterase (Yt blood group);ACHE;acetylcholinesterase (Yt blood group)

Definition

Yt blood group|acetylcholinesterase|apoptosis-related acetylcholinesterase

Position

7q22

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 0.03.

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.294T>C; p.S98S; 7:100893939-100893939

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.149G>A; p.G50D; 7:100894084-100894084

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1491G>A; p.T497T; 7:100892396-100892396

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1633G>A; p.D545N; 7:100891259-100891259

 skinmalignant_melanomaSubstitution - Missense

c.929A>T; p.Q310L; 7:100893304-100893304

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1599G>A; p.P533P; 7:100891293-100891293

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.375G>T; p.E125D; 7:100893858-100893858

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.242C>T; p.P81L; 7:100893991-100893991

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.772C>A; p.L258M; 7:100893461-100893461

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.820G>A; p.E274K; 7:100893413-100893413

 skinmalignant_melanomaSubstitution - Missense

c.1155C>T; p.I385I; 7:100892732-100892732

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1506C>T; p.I502I; 7:100892381-100892381

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.306A>G; p.Q102Q; 7:100893927-100893927

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.423C>T; p.S141S; 7:100893810-100893810

 skinmalignant_melanomaSubstitution - coding silent

c.1606G>A; p.A536T; 7:100891286-100891286

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1606G>A; p.A536T; 7:100891286-100891286

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1606G>A; p.A536T; 7:100891286-100891286

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.243G>A; p.P81P; 7:100893990-100893990

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.243G>A; p.P81P; 7:100893990-100893990

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.243G>A; p.P81P; 7:100893990-100893990

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.243G>A; p.P81P; 7:100893990-100893990

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1257C>T; p.P419P; 7:100892630-100892630

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1775C>G; p.P592R; 7:100891037-100891037

 breastcarcinomaSubstitution - Missense

c.1775C>G; p.P592R; 7:100891037-100891037

 thyroidother; neoplasmSubstitution - Missense

c.954C>T; p.H318H; 7:100893279-100893279

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1057C>A; p.H353N; 7:100893176-100893176

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1509C>T; p.F503F; 7:100892378-100892378

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1434C>T; p.H478H; 7:100892453-100892453

 pancreascarcinomaSubstitution - coding silent

c.764G>T; p.R255M; 7:100893469-100893469

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1429C>G; p.P477A; 7:100892458-100892458

 peritoneum; appendixother; pseudomyxoma_peritoneiSubstitution - Missense

c.1036C>A; p.L346I; 7:100893197-100893197

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.393C>T; p.N131N; 7:100893840-100893840

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.393C>T; p.N131N; 7:100893840-100893840

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.131G>A; p.R44H; 7:100894102-100894102

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1582G>A; p.A528T; 7:100891310-100891310

 pancreascarcinoid-endocrine_tumourSubstitution - Missense

c.704C>A; p.A235E; 7:100893529-100893529

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1243G>A; p.D415N; 7:100892644-100892644

 breastcarcinomaSubstitution - Missense

c.704C>A; p.A235E; 7:100893529-100893529

 ovaryother; neoplasmSubstitution - Missense

c.1640G>T; p.R547L; 7:100891252-100891252

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.1291G>A; p.D431N; 7:100892596-100892596

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.1145A>C; p.E382A; 7:100892742-100892742

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1654C>T; p.R552W; 7:100891238-100891238

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.138C>G; p.G46G; 7:100894095-100894095

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1461G>C; p.G487G; 7:100892426-100892426

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.284C>T; p.T95I; 7:100893949-100893949

 skinmalignant_melanomaSubstitution - Missense

c.1441G>A; p.E481K; 7:100892446-100892446

 skinmalignant_melanomaSubstitution - Missense

c.1441G>A; p.E481K; 7:100892446-100892446

 skinmalignant_melanomaSubstitution - Missense

c.1441G>A; p.E481K; 7:100892446-100892446

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1604C>T; p.T535M; 7:100891288-100891288

 stomachadenocarcinomaSubstitution - Missense

c.277G>A; p.A93T; 7:100893956-100893956

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1705A>C; p.K569Q; 7:100891187-100891187

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1705A>C; p.K569Q; 7:100891187-100891187

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1705A>C; p.K569Q; 7:100891187-100891187

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1705A>C; p.K569Q; 7:100891187-100891187

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.934C>T; p.L312L; 7:100893299-100893299

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.934C>T; p.L312L; 7:100893299-100893299

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.499C>T; p.R167C; 7:100893734-100893734

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.169G>T; p.G57W; 7:100894064-100894064

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.1478C>T; p.S493F; 7:100892409-100892409

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.706G>A; p.G236R; 7:100893527-100893527

 skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1244A>G; p.D415G; 7:100892643-100892643

 biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - Missense

c.287T>C; p.F96S; 7:100893946-100893946

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.967G>T; p.E323*; 7:100893266-100893266

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.847G>A; p.A283T; 7:100893386-100893386

 livercarcinomaSubstitution - Missense

c.10C>T; p.P4S; 7:100894223-100894223

 pancreascarcinomaSubstitution - Missense

c.1612G>A; p.A538T; 7:100891280-100891280

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1526G>A; p.R509Q; 7:100892361-100892361

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.238C>T; p.P80S; 7:100893995-100893995

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1044C>T; p.N348N; 7:100893189-100893189

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.238C>T; p.P80S; 7:100893995-100893995

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1663C>G; p.L555V; 7:100891229-100891229

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1663C>G; p.L555V; 7:100891229-100891229

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1663C>G; p.L555V; 7:100891229-100891229

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1327G>T; p.A443S; 7:100892560-100892560

 pancreascarcinomaSubstitution - Missense

c.1663C>G; p.L555V; 7:100891229-100891229

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1279G>A; p.E427K; 7:100892608-100892608

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.961C>T; p.P321S; 7:100893272-100893272

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.489G>T; p.V163V; 7:100893744-100893744

 thyroidother; neoplasmSubstitution - coding silent

c.868C>G; p.P290A; 7:100893365-100893365

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.636G>A; p.Q212Q; 7:100893597-100893597

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.313G>T; p.D105Y; 7:100893920-100893920

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1334T>A; p.L445Q; 7:100892553-100892553

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.323A>G; p.Y108C; 7:100893910-100893910

 breastcarcinomaSubstitution - Missense

c.1275G>A; p.L425L; 7:100892612-100892612

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1616A>G; p.Q539R; 7:100891276-100891276

 breastcarcinomaSubstitution - Missense

c.1431C>T; p.P477P; 7:100892456-100892456

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1431C>T; p.P477P; 7:100892456-100892456

 thyroidother; neoplasmSubstitution - coding silent

c.1117G>A; p.G373R; 7:100892770-100892770

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.990C>T; p.F330F; 7:100893243-100893243

 skinmalignant_melanomaSubstitution - coding silent

c.1481G>A; p.R494Q; 7:100892406-100892406

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1391G>A; p.R464H; 7:100892496-100892496

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.806C>T; p.T269M; 7:100893427-100893427

 skinmalignant_melanomaSubstitution - Missense

c.1398C>A; p.S466S; 7:100892489-100892489

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1735C>T; p.P579S; 7:100891077-100891077

 pancreascarcinomaSubstitution - Missense

c.227G>A; p.R76H; 7:100894006-100894006

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1314C>T; p.V438V; 7:100892573-100892573

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.687G>A; p.T229T; 7:100893546-100893546

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.687G>A; p.T229T; 7:100893546-100893546

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.980G>C; p.R327P; 7:100893253-100893253

 ovaryother; neoplasmSubstitution - Missense

c.1704_1705insC; p.K569fs*>50; 7:100891187-100891188

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.173G>A; p.G58D; 7:100894060-100894060

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.556G>A; p.A186T; 7:100893677-100893677

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1557T>C; p.D519D; 7:100891335-100891335

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1510G>A; p.A504T; 7:100892377-100892377

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1444A>G; p.I482V; 7:100892443-100892443

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.979C>T; p.R327W; 7:100893254-100893254

 skinmalignant_melanomaSubstitution - Missense

c.1588C>T; p.Q530*; 7:100891304-100891304

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.979C>T; p.R327W; 7:100893254-100893254

 skinmalignant_melanomaSubstitution - Missense

c.781G>A; p.G261S; 7:100893452-100893452

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.945C>T; p.H315H; 7:100893288-100893288

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1141A>C; p.N381H; 7:100892746-100892746

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1503A>C; p.K501N; 7:100892384-100892384

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1554G>A; p.G518G; 7:100891338-100891338

 skinmalignant_melanomaSubstitution - coding silent

c.1371C>T; p.Y457Y; 7:100892516-100892516

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1623C>T; p.Y541Y; 7:100891269-100891269

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.1553+1G>A; p.?; 7:100892333-100892333

 stomachcarcinoma; adenocarcinomaUnknown

c.225C>A; p.P75P; 7:100894008-100894008

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.926C>G; p.A309G; 7:100893307-100893307

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1397C>T; p.S466F; 7:100892490-100892490

 skinmalignant_melanomaSubstitution - Missense

c.703G>A; p.A235T; 7:100893530-100893530

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.981G>T; p.R327R; 7:100893252-100893252

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1400C>T; p.T467M; 7:100892487-100892487

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

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