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

Basic Information

Gene ID

220296

Name

HEPACAM

Synonymous

hepatic and glial cell adhesion molecule;HEPACAM;hepatic and glial cell adhesion molecule

Definition

hepatocyte cell adhesion molecule|protein hepaCAM

Position

11q24.2

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 0.15.

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.315C>T; p.G105G; 11:124924840-124924840

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.315C>T; p.G105G; 11:124924840-124924840

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.702C>T; p.T234T; 11:124923736-124923736

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.241C>G; p.Q81E; 11:124924914-124924914

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.947delA; p.K316fs*87; 11:124922389-124922389

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.287G>T; p.R96L; 11:124924868-124924868

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.912G>A; p.R304R; 11:124922424-124922424

 skinmalignant_melanomaSubstitution - coding silent

c.346G>A; p.D116N; 11:124924809-124924809

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.217C>G; p.R73G; 11:124924938-124924938

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1192G>A; p.A398T; 11:124921197-124921197

 livercarcinomaSubstitution - Missense

c.472C>T; p.L158L; 11:124923966-124923966

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1192G>A; p.A398T; 11:124921197-124921197

 livercarcinomaSubstitution - Missense

c.472C>T; p.L158L; 11:124923966-124923966

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.446A>G; p.Q149R; 11:124923992-124923992

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.191G>A; p.R64K; 11:124924964-124924964

 skinmalignant_melanomaSubstitution - Missense

c.260T>C; p.V87A; 11:124924895-124924895

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.102G>A; p.V34V; 11:124925053-124925053

 skinmalignant_melanomaSubstitution - coding silent

c.299G>A; p.R100Q; 11:124924856-124924856

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.299G>A; p.R100Q; 11:124924856-124924856

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.552C>A; p.G184G; 11:124923886-124923886

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.321G>T; p.L107L; 11:124924834-124924834

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.494C>T; p.T165I; 11:124923944-124923944

 skinmalignant_melanomaSubstitution - Missense

c.600G>T; p.K200N; 11:124923838-124923838

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.55C>T; p.P19S; 11:124935952-124935952

 skinmalignant_melanomaSubstitution - Missense

c.121C>T; p.R41C; 11:124925034-124925034

 pancreasNSSubstitution - Missense

c.302T>A; p.L101H; 11:124924853-124924853

 skinmalignant_melanomaSubstitution - Missense

c.892C>T; p.R298*; 11:124922444-124922444

 lungcarcinoma; small_cell_carcinomaSubstitution - Nonsense

c.892C>T; p.R298*; 11:124922444-124922444

 skinmalignant_melanomaSubstitution - Nonsense

c.369G>C; p.E123D; 11:124924786-124924786

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.783C>T; p.A261A; 11:124923360-124923360

 skinmalignant_melanomaSubstitution - coding silent

c.407C>T; p.T136I; 11:124924748-124924748

 skinmalignant_melanomaSubstitution - Missense

c.877G>T; p.A293S; 11:124922745-124922745

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.286C>T; p.R96*; 11:124924869-124924869

 pancreascarcinomaSubstitution - Nonsense

c.9A>T; p.R3S; 11:124935998-124935998

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.547G>A; p.D183N; 11:124923891-124923891

 skinmalignant_melanomaSubstitution - Missense

c.9A>T; p.R3S; 11:124935998-124935998

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.286C>T; p.R96*; 11:124924869-124924869

 pancreascarcinoma; ductal_carcinomaSubstitution - Nonsense

c.286C>T; p.R96*; 11:124924869-124924869

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Nonsense

c.636C>T; p.D212D; 11:124923802-124923802

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.257A>T; p.E86V; 11:124924898-124924898

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.591delC; p.D198fs*57; 11:124923847-124923847

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.117C>T; p.P39P; 11:124925038-124925038

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.345C>T; p.A115A; 11:124924810-124924810

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.920C>T; p.P307L; 11:124922416-124922416

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.224A>C; p.K75T; 11:124924931-124924931

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.387C>T; p.D129D; 11:124924768-124924768

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.387C>T; p.D129D; 11:124924768-124924768

 livercarcinomaSubstitution - coding silent

c.481A>C; p.S161R; 11:124923957-124923957

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1032C>T; p.P344P; 11:124921357-124921357

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.143G>A; p.G48E; 11:124925012-124925012

 skinmalignant_melanomaSubstitution - Missense

c.872C>T; p.P291L; 11:124922750-124922750

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.862C>A; p.R288S; 11:124922760-124922760

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.81G>A; p.Q27Q; 11:124935926-124935926

 skinmalignant_melanomaSubstitution - coding silent

c.55C>G; p.P19A; 11:124935952-124935952

 skinmalignant_melanomaSubstitution - Missense

c.713G>A; p.R238K; 11:124923430-124923430

 skinmalignant_melanomaSubstitution - Missense

c.217C>A; p.R73R; 11:124924938-124924938

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.762G>T; p.V254V; 11:124923381-124923381

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.275G>A; p.R92Q; 11:124924880-124924880

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.315C>A; p.G105G; 11:124924840-124924840

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.399G>A; p.G133G; 11:124924756-124924756

 skinmalignant_melanomaSubstitution - coding silent

c.398G>A; p.G133E; 11:124924757-124924757

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.579G>T; p.M193I; 11:124923859-124923859

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.680G>A; p.R227H; 11:124923758-124923758

 pancreascarcinomaSubstitution - Missense

c.289G>A; p.D97N; 11:124924866-124924866

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.259G>C; p.V87L; 11:124924896-124924896

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.419C>A; p.T140N; 11:124924736-124924736

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.681C>A; p.R227R; 11:124923757-124923757

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.833C>G; p.S278C; 11:124922789-124922789

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.126G>A; p.L42L; 11:124925029-124925029

 skinmalignant_melanomaSubstitution - coding silent

c.118G>A; p.V40M; 11:124925037-124925037

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.118G>A; p.V40M; 11:124925037-124925037

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.817C>A; p.L273I; 11:124922805-124922805

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.676G>T; p.G226C; 11:124923762-124923762

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.293G>A; p.R98H; 11:124924862-124924862

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.863G>A; p.R288H; 11:124922759-124922759

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.319C>G; p.L107V; 11:124924836-124924836

 skinmalignant_melanomaSubstitution - Missense

c.97G>A; p.G33R; 11:124925058-124925058

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.188A>T; p.D63V; 11:124924967-124924967

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.726C>T; p.Y242Y; 11:124923417-124923417

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.86-1G>A; p.?; 11:124925070-124925070

 stomachcarcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiableUnknown

c.658G>C; p.E220Q; 11:124923780-124923780

 breastcarcinomaSubstitution - Missense

c.558C>T; p.P186P; 11:124923880-124923880

 skinmalignant_melanomaSubstitution - coding silent

c.47G>A; p.R16H; 11:124935960-124935960

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.567T>A; p.N189K; 11:124923871-124923871

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.757C>T; p.L253F; 11:124923386-124923386

 skinmalignant_melanomaSubstitution - Missense

c.893G>A; p.R298Q; 11:124922443-124922443

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.893G>A; p.R298Q; 11:124922443-124922443

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.893G>A; p.R298Q; 11:124922443-124922443

 skinmalignant_melanomaSubstitution - Missense

c.619G>A; p.V207M; 11:124923819-124923819

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.971A>G; p.N324S; 11:124921418-124921418

 thyroidother; neoplasmSubstitution - Missense

c.618C>T; p.R206R; 11:124923820-124923820

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.437C>T; p.S146L; 11:124924001-124924001

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.437C>T; p.S146L; 11:124924001-124924001

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.437C>T; p.S146L; 11:124924001-124924001

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.437C>T; p.S146L; 11:124924001-124924001

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.437C>T; p.S146L; 11:124924001-124924001

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.507A>G; p.S169S; 11:124923931-124923931

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.641T>G; p.L214R; 11:124923797-124923797

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.339G>A; p.Q113Q; 11:124924816-124924816

 pancreascarcinoma; adenocarcinomaSubstitution - coding silent

c.773C>T; p.T258I; 11:124923370-124923370

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.662A>G; p.N221S; 11:124923776-124923776

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.73C>T; p.L25L; 11:124935934-124935934

 breastcarcinomaSubstitution - coding silent

c.97_98GG>AA; p.G33K; 11:124925057-124925058

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.270C>T; p.T90T; 11:124924885-124924885

 skinmalignant_melanomaSubstitution - coding silent

c.169T>G; p.Y57D; 11:124924986-124924986

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.710-3T>C; p.?; 11:124923436-124923436

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.192G>A; p.R64R; 11:124924963-124924963

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.287G>A; p.R96Q; 11:124924868-124924868

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.384C>T; p.D128D; 11:124924771-124924771

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.663C>A; p.N221K; 11:124923775-124923775

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.212T>G; p.L71R; 11:124924943-124924943

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.298C>T; p.R100*; 11:124924857-124924857

 breastcarcinomaSubstitution - Nonsense

c.298C>T; p.R100*; 11:124924857-124924857

 prostatecarcinomaSubstitution - Nonsense

c.212T>G; p.L71R; 11:124924943-124924943

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.910C>T; p.R304W; 11:124922426-124922426

 prostatecarcinomaSubstitution - Missense

c.87C>A; p.D29E; 11:124925068-124925068

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.911G>A; p.R304Q; 11:124922425-124922425

 skinmalignant_melanomaSubstitution - Missense

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