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

Basic Information

Gene ID

2035

Name

EPB41

Synonymous

erythrocyte membrane protein band 4.1;EPB41;erythrocyte membrane protein band 4.1

Definition

EPB4.1|P4.1|band 4.1|elliptocytosis 1, RH-linked|erythrocyte surface protein band 4.1|protein 4.1

Position

1p33-p32

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 0.12.

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.1338+2T>C; p.?; 1:29060486-29060486

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.443C>G; p.P148R; 1:29018388-29018388

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.443C>G; p.P148R; 1:29018388-29018388

 breastcarcinomaSubstitution - Missense

c.763G>T; p.G255*; 1:29035850-29035850

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.159+1G>A; p.?; 1:28997320-28997320

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; polycythaemia_veraUnknown

c.1266C>T; p.D422D; 1:29058636-29058636

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1692T>C; p.A564A; 1:29109383-29109383

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.510A>G; p.P170P; 1:29030412-29030412

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.209C>T; p.P70L; 1:29015698-29015698

 skinmalignant_melanomaSubstitution - Missense

c.57A>T; p.K19N; 1:28997217-28997217

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1025C>T; p.S342L; 1:29053119-29053119

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1400A>T; p.K467M; 1:29065043-29065043

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1025C>T; p.S342L; 1:29053119-29053119

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.626G>A; p.S209N; 1:29033133-29033133

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.626G>A; p.S209N; 1:29033133-29033133

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1111delA; p.T373fs*11; 1:29053205-29053205

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1111delA; p.T373fs*11; 1:29053205-29053205

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1050T>C; p.T350T; 1:29053144-29053144

 skinmalignant_melanomaSubstitution - coding silent

c.237T>G; p.F79L; 1:29015726-29015726

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1020C>T; p.V340V; 1:29053114-29053114

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1020C>T; p.V340V; 1:29053114-29053114

 skinmalignant_melanomaSubstitution - coding silent

c.1020C>A; p.V340V; 1:29053114-29053114

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.252A>G; p.P84P; 1:29015741-29015741

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.174C>T; p.S58S; 1:29011879-29011879

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.971G>A; p.R324H; 1:29039388-29039388

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1142A>G; p.E381G; 1:29053236-29053236

 small_intestinecarcinoid-endocrine_tumourSubstitution - Missense

c.1705T>C; p.S569P; 1:29109396-29109396

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.372C>T; p.I124I; 1:29018317-29018317

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.1277A>G; p.K426R; 1:29060423-29060423

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.372C>T; p.I124I; 1:29018317-29018317

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.111G>A; p.L37L; 1:28997271-28997271

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.840G>C; p.L280F; 1:29039257-29039257

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.943A>G; p.I315V; 1:29039360-29039360

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1475G>A; p.R492Q; 1:29065118-29065118

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1475G>A; p.R492Q; 1:29065118-29065118

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.400G>T; p.E134*; 1:29018345-29018345

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.530T>C; p.F177S; 1:29030432-29030432

 skinmalignant_melanomaSubstitution - Missense

c.646G>A; p.D216N; 1:29033153-29033153

 skinmalignant_melanomaSubstitution - Missense

c.1768G>A; p.E590K; 1:29112389-29112389

 skinmalignant_melanomaSubstitution - Missense

c.1072G>T; p.G358C; 1:29053166-29053166

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.142G>C; p.D48H; 1:28997302-28997302

 pancreascarcinomaSubstitution - Missense

c.241C>G; p.P81A; 1:29015730-29015730

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.827C>T; p.T276M; 1:29035914-29035914

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1693C>G; p.Q565E; 1:29109384-29109384

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.827C>T; p.T276M; 1:29035914-29035914

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1500C>T; p.I500I; 1:29065143-29065143

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.199C>T; p.R67C; 1:29011904-29011904

 skinmalignant_melanomaSubstitution - Missense

c.670C>T; p.P224S; 1:29033177-29033177

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1161G>A; p.V387V; 1:29053255-29053255

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.738+2T>C; p.?; 1:29033247-29033247

 stomachcarcinoma; adenocarcinomaUnknown

c.1248A>G; p.V416V; 1:29058618-29058618

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1110_1111insA; p.T373fs*5; 1:29053204-29053205

 bone; femurchondrosarcomaInsertion - Frameshift

c.1248A>G; p.V416V; 1:29058618-29058618

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1513G>A; p.G505R; 1:29065156-29065156

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1507G>T; p.G503*; 1:29065150-29065150

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1785G>C; p.K595N; 1:29112406-29112406

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1422A>C; p.P474P; 1:29065065-29065065

 skinmalignant_melanomaSubstitution - coding silent

c.1799C>T; p.T600I; 1:29112420-29112420

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.502A>G; p.M168V; 1:29030404-29030404

 pancreascarcinomaSubstitution - Missense

c.1241T>G; p.V414G; 1:29058611-29058611

 livercarcinomaSubstitution - Missense

c.787G>T; p.A263S; 1:29035874-29035874

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1747-1G>C; p.?; 1:29112367-29112367

 urinary_tract; bladdercarcinomaUnknown

c.603T>C; p.D201D; 1:29033110-29033110

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1103C>T; p.A368V; 1:29053197-29053197

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.785G>A; p.R262Q; 1:29035872-29035872

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1817A>G; p.D606G; 1:29112438-29112438

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.785G>A; p.R262Q; 1:29035872-29035872

 breastcarcinomaSubstitution - Missense

c.1401G>T; p.K467N; 1:29065044-29065044

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1552G>T; p.D518Y; 1:29097843-29097843

 biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Missense

c.394G>A; p.D132N; 1:29018339-29018339

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.394G>A; p.D132N; 1:29018339-29018339

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1484A>T; p.N495I; 1:29065127-29065127

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1009+1G>A; p.?; 1:29039427-29039427

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.1442G>C; p.W481S; 1:29065085-29065085

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1742delC; p.K582fs*3; 1:29109433-29109433

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1665C>T; p.D555D; 1:29109356-29109356

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1451G>A; p.R484H; 1:29065094-29065094

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1249C>G; p.P417A; 1:29058619-29058619

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1491T>A; p.N497K; 1:29065134-29065134

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1237G>A; p.E413K; 1:29058607-29058607

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1574G>A; p.S525N; 1:29097865-29097865

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.874C>T; p.L292F; 1:29039291-29039291

 skinmalignant_melanomaSubstitution - Missense

c.518C>A; p.A173D; 1:29030420-29030420

 thyroidother; neoplasmSubstitution - Missense

c.1223A>G; p.E408G; 1:29058593-29058593

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.850G>A; p.D284N; 1:29039267-29039267

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.878C>T; p.A293V; 1:29039295-29039295

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.516G>A; p.Q172Q; 1:29030418-29030418

 thyroidother; neoplasmSubstitution - coding silent

c.1868C>T; p.P623L; 1:29115739-29115739

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.909G>A; p.R303R; 1:29039326-29039326

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1591G>T; p.D531Y; 1:29097882-29097882

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.742G>A; p.E248K; 1:29035829-29035829

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1606C>T; p.H536Y; 1:29097897-29097897

 skinmalignant_melanomaSubstitution - Missense

c.29_30delAC; p.T11fs*3; 1:28993517-28993518

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.932C>T; p.A311V; 1:29039349-29039349

 skinmalignant_melanomaSubstitution - Missense

c.515A>T; p.Q172L; 1:29030417-29030417

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1173C>T; p.D391D; 1:29053267-29053267

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.966C>T; p.F322F; 1:29039383-29039383

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.966C>T; p.F322F; 1:29039383-29039383

 NSNSSubstitution - coding silent

c.1711A>T; p.T571S; 1:29109402-29109402

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1046_1047CC>TT; p.P349L; 1:29053140-29053141

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.26A>G; p.D9G; 1:28993514-28993514

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1442G>T; p.W481L; 1:29065085-29065085

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.250C>T; p.P84S; 1:29015739-29015739

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.292C>T; p.L98F; 1:29018237-29018237

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.925A>G; p.R309G; 1:29039342-29039342

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

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