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

Basic Information

Gene ID

3273

Name

HRG

Synonymous

histidine-rich glycoprotein;HRG;histidine-rich glycoprotein

Definition

histidine-proline-rich glycoprotein

Position

3q27

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 0.06.

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.541G>C; p.E181Q; 3:186671772-186671772

 breastcarcinomaSubstitution - Missense

c.809G>A; p.R270H; 3:186677114-186677114

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.768G>A; p.P256P; 3:186677073-186677073

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.427G>A; p.V143I; 3:186671658-186671658

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1019A>G; p.H340R; 3:186677324-186677324

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1019A>G; p.H340R; 3:186677324-186677324

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1019A>G; p.H340R; 3:186677324-186677324

 prostateadenomaSubstitution - Missense

c.1019A>G; p.H340R; 3:186677324-186677324

 thyroidother; neoplasmSubstitution - Missense

c.1099C>T; p.H367Y; 3:186677404-186677404

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.898C>T; p.P300S; 3:186677203-186677203

 skinmalignant_melanomaSubstitution - Missense

c.249G>A; p.R83R; 3:186669000-186669000

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1062T>C; p.H354H; 3:186677367-186677367

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.930C>A; p.P310P; 3:186677235-186677235

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.610C>T; p.P204S; 3:186672838-186672838

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.610C>T; p.P204S; 3:186672838-186672838

 prostateadenomaSubstitution - Missense

c.610C>T; p.P204S; 3:186672838-186672838

 thyroidother; neoplasmSubstitution - Missense

c.289C>T; p.P97S; 3:186669040-186669040

 livercarcinomaSubstitution - Missense

c.289C>T; p.P97S; 3:186669040-186669040

 livercarcinomaSubstitution - Missense

c.781C>A; p.H261N; 3:186677086-186677086

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.781C>A; p.H261N; 3:186677086-186677086

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.48G>A; p.S16S; 3:186666079-186666079

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.48G>A; p.S16S; 3:186666079-186666079

 central_nervous_system; braingliomaSubstitution - coding silent

c.642C>G; p.V214V; 3:186675091-186675091

 ovaryother; neoplasmSubstitution - coding silent

c.1063C>A; p.H355N; 3:186677368-186677368

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1047C>T; p.L349L; 3:186677352-186677352

 skinmalignant_melanomaSubstitution - coding silent

c.410A>G; p.N137S; 3:186671641-186671641

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1573A>T; p.K525*; 3:186677878-186677878

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.866C>T; p.P289L; 3:186677171-186677171

 skinmalignant_melanomaSubstitution - Missense

c.702G>A; p.P234P; 3:186675151-186675151

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.702G>A; p.P234P; 3:186675151-186675151

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.137A>T; p.Y46F; 3:186666168-186666168

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1293C>T; p.H431H; 3:186677598-186677598

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.702G>A; p.P234P; 3:186675151-186675151

 skinmalignant_melanomaSubstitution - coding silent

c.1262C>T; p.P421L; 3:186677567-186677567

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.646G>A; p.G216R; 3:186675095-186675095

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.683C>T; p.A228V; 3:186675132-186675132

 skin; head_neckmalignant_melanoma; superficial_spreadingSubstitution - Missense

c.484C>A; p.L162I; 3:186671715-186671715

 breastcarcinomaSubstitution - Missense

c.568G>A; p.E190K; 3:186672796-186672796

 skinmalignant_melanomaSubstitution - Missense

c.1384C>T; p.P462S; 3:186677689-186677689

 skinmalignant_melanomaSubstitution - Missense

c.1384C>T; p.P462S; 3:186677689-186677689

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1143C>T; p.P381P; 3:186677448-186677448

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.307G>C; p.G103R; 3:186669944-186669944

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1263C>A; p.P421P; 3:186677568-186677568

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.307G>T; p.G103*; 3:186669944-186669944

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.567G>A; p.G189G; 3:186672795-186672795

 skinmalignant_melanomaSubstitution - coding silent

c.862C>T; p.H288Y; 3:186677167-186677167

 skinmalignant_melanomaSubstitution - Missense

c.907G>A; p.E303K; 3:186677212-186677212

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.943G>T; p.G315C; 3:186677248-186677248

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.862C>T; p.H288Y; 3:186677167-186677167

 skinmalignant_melanomaSubstitution - Missense

c.907G>A; p.E303K; 3:186677212-186677212

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.738T>C; p.P246P; 3:186675187-186675187

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.395C>T; p.S132F; 3:186671626-186671626

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.937C>T; p.P313S; 3:186677242-186677242

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.184-5C>T; p.?; 3:186668930-186668930

 pancreascarcinomaUnknown

c.928C>T; p.P310S; 3:186677233-186677233

 skinmalignant_melanomaSubstitution - Missense

c.1480C>T; p.Q494*; 3:186677785-186677785

 skinmalignant_melanomaSubstitution - Nonsense

c.1154A>C; p.H385P; 3:186677459-186677459

 breastcarcinomaSubstitution - Missense

c.286C>T; p.R96C; 3:186669037-186669037

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.687G>A; p.L229L; 3:186675136-186675136

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.411T>C; p.N137N; 3:186671642-186671642

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.545G>C; p.R182T; 3:186671776-186671776

 oesophaguscarcinomaSubstitution - Missense

c.441C>A; p.F147L; 3:186671672-186671672

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.441C>A; p.F147L; 3:186671672-186671672

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.451A>G; p.T151A; 3:186671682-186671682

 kidneyother; neoplasmSubstitution - Missense

c.984A>G; p.Q328Q; 3:186677289-186677289

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.408C>T; p.A136A; 3:186671639-186671639

 skinmalignant_melanomaSubstitution - coding silent

c.301-7C>G; p.?; 3:186669931-186669931

 endometriumcarcinoma; serous_carcinomaUnknown

c.729C>G; p.V243V; 3:186675178-186675178

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.681A>C; p.E227D; 3:186675130-186675130

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.353A>G; p.D118G; 3:186669990-186669990

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.740A>G; p.Q247R; 3:186675189-186675189

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.124C>T; p.R42*; 3:186666155-186666155

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.1552delT; p.F519fs*>7; 3:186677857-186677857

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1552delT; p.F519fs*>7; 3:186677857-186677857

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1552delT; p.F519fs*>7; 3:186677857-186677857

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1552delT; p.F519fs*>7; 3:186677857-186677857

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1339C>T; p.P447S; 3:186677644-186677644

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.552A>G; p.A184A; 3:186671783-186671783

 livercarcinomaSubstitution - coding silent

c.237G>A; p.S79S; 3:186668988-186668988

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.237G>A; p.S79S; 3:186668988-186668988

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1276C>T; p.H426Y; 3:186677581-186677581

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1032T>C; p.N344N; 3:186677337-186677337

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.585C>A; p.F195L; 3:186672813-186672813

 breastcarcinomaSubstitution - Missense

c.981T>C; p.C327C; 3:186677286-186677286

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1381C>T; p.L461F; 3:186677686-186677686

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.282C>T; p.S94S; 3:186669033-186669033

 skinmalignant_melanomaSubstitution - coding silent

c.1262C>G; p.P421R; 3:186677567-186677567

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1294G>A; p.G432S; 3:186677599-186677599

 breastcarcinomaSubstitution - Missense

c.409A>G; p.N137D; 3:186671640-186671640

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.880G>A; p.E294K; 3:186677185-186677185

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.194C>A; p.T65N; 3:186668945-186668945

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.880G>A; p.E294K; 3:186677185-186677185

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1120C>T; p.H374Y; 3:186677425-186677425

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.880G>A; p.E294K; 3:186677185-186677185

 breastcarcinomaSubstitution - Missense

c.880G>A; p.E294K; 3:186677185-186677185

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.127C>T; p.R43W; 3:186666158-186666158

 stomachadenocarcinomaSubstitution - Missense

c.1011C>A; p.A337A; 3:186677316-186677316

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1223G>A; p.C408Y; 3:186677528-186677528

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1570C>T; p.P524S; 3:186677875-186677875

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.830C>T; p.P277L; 3:186677135-186677135

 skinmalignant_melanomaSubstitution - Missense

c.1344T>C; p.R448R; 3:186677649-186677649

 breastcarcinomaSubstitution - coding silent

c.893C>A; p.P298Q; 3:186677198-186677198

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.154C>T; p.R52W; 3:186666185-186666185

 breastcarcinomaSubstitution - Missense

c.1397A>T; p.K466I; 3:186677702-186677702

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.639+2T>C; p.?; 3:186672869-186672869

 ovaryother; neoplasmUnknown

c.1557T>A; p.F519L; 3:186677862-186677862

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1431T>G; p.F477L; 3:186677736-186677736

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.47C>T; p.S16L; 3:186666078-186666078

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.709C>A; p.L237I; 3:186675158-186675158

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.535C>T; p.R179*; 3:186671766-186671766

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.426G>A; p.P142P; 3:186671657-186671657

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.426G>A; p.P142P; 3:186671657-186671657

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.426G>A; p.P142P; 3:186671657-186671657

 eye; retinaretinoblastomaSubstitution - coding silent

c.436G>T; p.D146Y; 3:186671667-186671667

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.947C>T; p.P316L; 3:186677252-186677252

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.911G>T; p.R304I; 3:186677216-186677216

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1321C>T; p.R441*; 3:186677626-186677626

 skinmalignant_melanomaSubstitution - Nonsense

c.812C>A; p.S271Y; 3:186677117-186677117

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.539T>C; p.I180T; 3:186671770-186671770

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.536G>A; p.R179Q; 3:186671767-186671767

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1150C>T; p.H384Y; 3:186677455-186677455

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1507T>A; p.S503T; 3:186677812-186677812

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.411T>G; p.N137K; 3:186671642-186671642

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1208G>A; p.G403E; 3:186677513-186677513

 skinmalignant_melanomaSubstitution - Missense

c.742G>A; p.E248K; 3:186677047-186677047

 skinmalignant_melanomaSubstitution - Missense

c.1373T>C; p.V458A; 3:186677678-186677678

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1373T>C; p.V458A; 3:186677678-186677678

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.880_886delGAACATG; p.E294fs*143; 3:186677185-186677191

 livercarcinomaDeletion - Frameshift

c.1478A>T; p.N493I; 3:186677783-186677783

 thyroidother; neoplasmSubstitution - Missense

c.601C>T; p.R201W; 3:186672829-186672829

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.601C>T; p.R201W; 3:186672829-186672829

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.772C>T; p.H258Y; 3:186677077-186677077

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.772C>T; p.H258Y; 3:186677077-186677077

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.62C>T; p.P21L; 3:186666093-186666093

 skinmalignant_melanomaSubstitution - Missense

c.1343G>A; p.R448H; 3:186677648-186677648

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.708C>T; p.N236N; 3:186675157-186675157

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.514T>G; p.F172V; 3:186671745-186671745

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.597_598delTG; p.V200fs*25; 3:186672825-186672826

 endometriumcarcinoma; endometrioid_carcinomaDeletion - Frameshift

c.128G>A; p.R43Q; 3:186666159-186666159

 oesophaguscarcinomaSubstitution - Missense

c.1087G>A; p.G363R; 3:186677392-186677392

 skinmalignant_melanomaSubstitution - Missense

c.1441C>T; p.P481S; 3:186677746-186677746

 skinmalignant_melanomaSubstitution - Missense

c.527G>A; p.R176K; 3:186671758-186671758

 skin; extremitymalignant_melanomaSubstitution - Missense

c.887G>A; p.G296E; 3:186677192-186677192

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaSubstitution - Missense

c.155G>A; p.R52Q; 3:186666186-186666186

 skinmalignant_melanomaSubstitution - Missense

c.155G>A; p.R52Q; 3:186666186-186666186

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.343G>A; p.E115K; 3:186669980-186669980

 skinmalignant_melanomaSubstitution - Missense

c.1204C>T; p.H402Y; 3:186677509-186677509

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1204C>T; p.H402Y; 3:186677509-186677509

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.351G>A; p.Q117Q; 3:186669988-186669988

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.611C>T; p.P204L; 3:186672839-186672839

 skinmalignant_melanomaSubstitution - Missense

c.1396A>C; p.K466Q; 3:186677701-186677701

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1372G>A; p.V458M; 3:186677677-186677677

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.950C>A; p.P317H; 3:186677255-186677255

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1432C>T; p.P478S; 3:186677737-186677737

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1432C>T; p.P478S; 3:186677737-186677737

 skinmalignant_melanomaSubstitution - Missense

c.385A>C; p.S129R; 3:186670022-186670022

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.701C>T; p.P234L; 3:186675150-186675150

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1217C>A; p.P406H; 3:186677522-186677522

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.633C>T; p.H211H; 3:186672861-186672861

 skinmalignant_melanomaSubstitution - coding silent

c.785C>A; p.P262H; 3:186677090-186677090

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.585C>T; p.F195F; 3:186672813-186672813

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.144C>T; p.F48F; 3:186666175-186666175

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1430T>G; p.F477C; 3:186677735-186677735

 skinmalignant_melanomaSubstitution - Missense

c.850A>T; p.R284*; 3:186677155-186677155

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.236C>T; p.S79L; 3:186668987-186668987

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.156G>T; p.R52R; 3:186666187-186666187

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.6G>T; p.K2N; 3:186666037-186666037

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

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