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

Basic Information

Gene ID

634

Name

CEACAM1

Synonymous

carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein);CEACAM1;carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)

Definition

CD66a antigen|antigen CD66|carcinoembryonic antigen-related cell adhesion molecule 1

Position

19q13.2

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 0.14.

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.1051A>T; p.N351Y; 19:42519143-42519143

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.673C>T; p.R225C; 19:42521954-42521954

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1153C>A; p.P385T; 19:42519041-42519041

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.673C>T; p.R225C; 19:42521954-42521954

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1376+2T>A; p.?; 19:42512348-42512348

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaUnknown

c.1479T>C; p.Y493Y; 19:42509211-42509211

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1468G>A; p.E490K; 19:42509222-42509222

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1479T>C; p.Y493Y; 19:42509211-42509211

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1468G>A; p.E490K; 19:42509222-42509222

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1376+2T>A; p.?; 19:42512348-42512348

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaUnknown

c.1576C>T; p.Q526*; 19:42509114-42509114

 kidneyother; neoplasmSubstitution - Nonsense

c.259C>T; p.Q87*; 19:42527206-42527206

 ovarycarcinoma; adenocarcinomaSubstitution - Nonsense

c.50G>T; p.G17V; 19:42528325-42528325

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.754_755GG>AA; p.G252K; 19:42521470-42521471

 skinmalignant_melanomaSubstitution - Missense

c.798T>A; p.P266P; 19:42521427-42521427

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.246T>A; p.Y82*; 19:42527219-42527219

 pancreascarcinomaSubstitution - Nonsense

c.452G>T; p.S151I; 19:42522175-42522175

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.289G>A; p.G97S; 19:42527176-42527176

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.352G>T; p.G118*; 19:42527113-42527113

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Nonsense

c.1536C>T; p.S512S; 19:42509154-42509154

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.372C>A; p.V124V; 19:42527093-42527093

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.317C>T; p.S106F; 19:42527148-42527148

 skinmalignant_melanomaSubstitution - Missense

c.1222G>A; p.D408N; 19:42518972-42518972

 skinmalignant_melanomaSubstitution - Missense

c.1044C>T; p.C348C; 19:42519150-42519150

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1178C>T; p.T393M; 19:42519016-42519016

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.224G>A; p.G75D; 19:42527241-42527241

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.922T>G; p.C308G; 19:42521303-42521303

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.350C>T; p.T117I; 19:42527115-42527115

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.350C>T; p.T117I; 19:42527115-42527115

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.541A>T; p.N181Y; 19:42522086-42522086

 skinmalignant_melanomaSubstitution - Missense

c.892A>C; p.T298P; 19:42521333-42521333

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.892A>C; p.T298P; 19:42521333-42521333

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.892A>C; p.T298P; 19:42521333-42521333

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.892A>C; p.T298P; 19:42521333-42521333

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.892A>C; p.T298P; 19:42521333-42521333

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.892A>C; p.T298P; 19:42521333-42521333

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.892A>C; p.T298P; 19:42521333-42521333

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1488G>A; p.L496L; 19:42509202-42509202

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1383C>T; p.S461S; 19:42511622-42511622

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1383C>T; p.S461S; 19:42511622-42511622

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.183A>T; p.Q61H; 19:42527282-42527282

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.183A>T; p.Q61H; 19:42527282-42527282

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1404G>A; p.E468E; 19:42511601-42511601

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.84G>A; p.W28*; 19:42527381-42527381

 NSmalignant_melanomaSubstitution - Nonsense

c.84G>A; p.W28*; 19:42527381-42527381

 NSmalignant_melanomaSubstitution - Nonsense

c.292C>T; p.R98*; 19:42527173-42527173

 skinmalignant_melanomaSubstitution - Nonsense

c.688A>C; p.T230P; 19:42521939-42521939

 breastcarcinomaSubstitution - Missense

c.621G>A; p.R207R; 19:42522006-42522006

 skinmalignant_melanomaSubstitution - coding silent

c.1096C>T; p.L366F; 19:42519098-42519098

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1049C>T; p.T350I; 19:42519145-42519145

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1247-1G>C; p.?; 19:42512480-42512480

 lungcarcinoma; adenocarcinomaUnknown

c.1362C>T; p.F454F; 19:42512364-42512364

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.438G>T; p.K146N; 19:42522189-42522189

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.900C>T; p.H300H; 19:42521325-42521325

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1142T>A; p.L381H; 19:42519052-42519052

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.958+3A>C; p.?; 19:42521264-42521264

 ovaryother; neoplasmUnknown

c.1432C>A; p.Q478K; 19:42510918-42510918

 pancreascarcinomaSubstitution - Missense

c.90G>A; p.P30P; 19:42527375-42527375

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.202T>G; p.Y68D; 19:42527263-42527263

 breastcarcinomaSubstitution - Missense

c.143G>A; p.G48E; 19:42527322-42527322

 skinmalignant_melanomaSubstitution - Missense

c.385C>A; p.L129I; 19:42527080-42527080

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.29G>C; p.R10T; 19:42528346-42528346

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1031_1032delTG; p.V344fs*8; 19:42519162-42519163

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.502G>A; p.E168K; 19:42522125-42522125

 skinmalignant_melanomaSubstitution - Missense

c.49G>A; p.G17R; 19:42528326-42528326

 skinmalignant_melanomaSubstitution - Missense

c.270C>T; p.T90T; 19:42527195-42527195

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1069A>C; p.I357L; 19:42519125-42519125

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.515A>G; p.Q172R; 19:42522112-42522112

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.64G>T; p.A22S; 19:42528311-42528311

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1384G>A; p.D462N; 19:42511621-42511621

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.687C>T; p.V229V; 19:42521940-42521940

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.293G>A; p.R98Q; 19:42527172-42527172

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.11T>G; p.L4R; 19:42528364-42528364

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1239C>T; p.N413N; 19:42518955-42518955

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.859C>T; p.P287S; 19:42521366-42521366

 soft_tissue; blood_vesselangiosarcomaSubstitution - Missense

c.893C>T; p.T298I; 19:42521332-42521332

 prostatecarcinomaSubstitution - Missense

c.1221C>T; p.S407S; 19:42518973-42518973

 breastcarcinomaSubstitution - coding silent

c.898C>A; p.H300N; 19:42521327-42521327

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1376+5G>C; p.?; 19:42512345-42512345

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.407G>A; p.G136E; 19:42527058-42527058

 skinmalignant_melanomaSubstitution - Missense

c.280G>A; p.A94T; 19:42527185-42527185

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.444C>T; p.S148S; 19:42522183-42522183

 skinmalignant_melanomaSubstitution - coding silent

c.426G>A; p.P142P; 19:42522201-42522201

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.491C>T; p.A164V; 19:42522136-42522136

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.353G>A; p.G118E; 19:42527112-42527112

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.352G>A; p.G118R; 19:42527113-42527113

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1032G>A; p.V344V; 19:42519162-42519162

 skinmalignant_melanomaSubstitution - coding silent

c.1032G>A; p.V344V; 19:42519162-42519162

 breastcarcinomaSubstitution - coding silent

c.646G>A; p.E216K; 19:42521981-42521981

 skin; scalpmalignant_melanomaSubstitution - Missense

c.922T>C; p.C308R; 19:42521303-42521303

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.674G>T; p.R225L; 19:42521953-42521953

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.922T>C; p.C308R; 19:42521303-42521303

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1394A>G; p.D465G; 19:42511611-42511611

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.922T>C; p.C308R; 19:42521303-42521303

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.669G>A; p.A223A; 19:42521958-42521958

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.669G>A; p.A223A; 19:42521958-42521958

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1128G>T; p.Q376H; 19:42519066-42519066

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.906T>C; p.N302N; 19:42521319-42521319

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemiaSubstitution - coding silent

c.254G>A; p.G85E; 19:42527211-42527211

 skinmalignant_melanomaSubstitution - Missense

c.576G>A; p.Q192Q; 19:42522051-42522051

 skinmalignant_melanomaSubstitution - coding silent

c.571C>T; p.L191L; 19:42522056-42522056

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.693G>A; p.L231L; 19:42521934-42521934

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1130G>A; p.G377D; 19:42519064-42519064

 skinmalignant_melanomaSubstitution - Missense

c.210G>C; p.G70G; 19:42527255-42527255

 biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - coding silent

c.210G>C; p.G70G; 19:42527255-42527255

 thyroidother; neoplasmSubstitution - coding silent

c.1464G>T; p.M488I; 19:42509226-42509226

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.558G>T; p.P186P; 19:42522069-42522069

 lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

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