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

Basic Information

Gene ID

5915

Name

RARB

Synonymous

retinoic acid receptor, beta;RARB;retinoic acid receptor, beta

Definition

HBV-activated protein|RAR-beta|RAR-epsilon|hepatitis B virus activated protein|nuclear receptor subfamily 1 group B member 2|retinoic acid receptor beta|retinoic acid receptor, beta polypeptide

Position

3p24.2

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 0.24.

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.363G>C; p.K121N; 3:25501238-25501238

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.209C>A; p.S70Y; 3:25461244-25461244

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1200A>G; p.P400P; 3:25596469-25596469

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.697G>A; p.V233M; 3:25580633-25580633

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.434G>A; p.G145E; 3:25501309-25501309

 breastcarcinomaSubstitution - Missense

c.355C>T; p.R119*; 3:25501230-25501230

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Nonsense

c.247G>A; p.V83I; 3:25461282-25461282

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.247G>A; p.V83I; 3:25461282-25461282

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.166A>G; p.T56A; 3:25461201-25461201

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.887G>A; p.G296D; 3:25593603-25593603

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1193C>T; p.S398L; 3:25596462-25596462

 ovaryother; neoplasmSubstitution - Missense

c.1180G>A; p.E394K; 3:25596449-25596449

 skinmalignant_melanomaSubstitution - Missense

c.184G>C; p.E62Q; 3:25461219-25461219

 breastcarcinomaSubstitution - Missense

c.710A>T; p.K237I; 3:25580646-25580646

 skinmalignant_melanomaSubstitution - Missense

c.1043T>A; p.L348*; 3:25594571-25594571

 skinmalignant_melanomaSubstitution - Nonsense

c.504A>G; p.T168T; 3:25569813-25569813

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.648C>G; p.G216G; 3:25580584-25580584

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1151-11_1168del29; p.?; 3:25596409-25596437

 breastcarcinomaUnknown

c.1006G>C; p.E336Q; 3:25594534-25594534

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.860G>A; p.R287Q; 3:25593576-25593576

 breastcarcinomaSubstitution - Missense

c.16G>A; p.D6N; 3:25428747-25428747

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.109T>G; p.F37V; 3:25428840-25428840

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.629G>C; p.R210P; 3:25580565-25580565

 ovaryother; neoplasmSubstitution - Missense

c.1158G>A; p.E386E; 3:25596427-25596427

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.186G>T; p.E62D; 3:25461221-25461221

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.404A>C; p.Y135S; 3:25501279-25501279

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.991G>A; p.D331N; 3:25593707-25593707

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.966C>G; p.L322L; 3:25593682-25593682

 skinmalignant_melanomaSubstitution - coding silent

c.539T>A; p.L180H; 3:25569848-25569848

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.394C>T; p.R132*; 3:25501269-25501269

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1078C>T; p.R360*; 3:25594606-25594606

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.992-1G>A; p.?; 3:25594519-25594519

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.1078C>T; p.R360*; 3:25594606-25594606

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.206C>A; p.P69Q; 3:25461241-25461241

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.62C>T; p.A21V; 3:25428793-25428793

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.947A>G; p.D316G; 3:25593663-25593663

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.129C>T; p.T43T; 3:25428860-25428860

 breastcarcinomaSubstitution - coding silent

c.505G>T; p.E169*; 3:25569814-25569814

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.1037_1056del20; p.P347fs*26; 3:25594565-25594584

 breastcarcinoma; ductal_carcinomaDeletion - Frameshift

c.1150+1_1150+4delGTAT; p.?; 3:25594679-25594682

 livercarcinomaUnknown

c.205C>T; p.P69S; 3:25461240-25461240

 breastcarcinomaSubstitution - Missense

c.1204C>G; p.L402V; 3:25596473-25596473

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.488C>T; p.S163L; 3:25569797-25569797

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.297G>A; p.E99E; 3:25461332-25461332

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.400C>G; p.Q134E; 3:25501275-25501275

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.871C>T; p.H291Y; 3:25593587-25593587

 large_intestine; coloncarcinomaSubstitution - Missense

c.871C>T; p.H291Y; 3:25593587-25593587

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1250C>T; p.T417I; 3:25596519-25596519

 pleurapulmonary_blastomaSubstitution - Missense

c.278A>G; p.Y93C; 3:25461313-25461313

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.113G>A; p.S38N; 3:25428844-25428844

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.811A>G; p.T271A; 3:25593527-25593527

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.546G>A; p.E182E; 3:25569855-25569855

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.366C>T; p.N122N; 3:25501241-25501241

 lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.612T>C; p.N204N; 3:25580548-25580548

 prostateadenomaSubstitution - coding silent

c.324T>A; p.S108R; 3:25501199-25501199

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.663C>T; p.F221F; 3:25580599-25580599

 breastcarcinomaSubstitution - coding silent

c.248T>C; p.V83A; 3:25461283-25461283

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.219T>C; p.P73P; 3:25461254-25461254

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.535G>A; p.D179N; 3:25569844-25569844

 skinmalignant_melanomaSubstitution - Missense

c.757C>T; p.L253L; 3:25580693-25580693

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.440_441CC>TT; p.S147F; 3:25501315-25501316

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1139T>C; p.I380T; 3:25594667-25594667

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.573T>G; p.T191T; 3:25569882-25569882

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.292T>A; p.C98S; 3:25461327-25461327

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.554G>A; p.R185Q; 3:25569863-25569863

 skinmalignant_melanomaSubstitution - Missense

c.560C>T; p.A187V; 3:25569869-25569869

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.21T>C; p.V7V; 3:25428752-25428752

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.399C>A; p.C133*; 3:25501274-25501274

 breastcarcinomaSubstitution - Nonsense

c.771C>T; p.A257A; 3:25580707-25580707

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.445G>T; p.E149*; 3:25501320-25501320

 breastcarcinomaSubstitution - Nonsense

c.503C>T; p.T168I; 3:25569812-25569812

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.223C>G; p.P75A; 3:25461258-25461258

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.200_201insC; p.S70fs*30; 3:25461235-25461236

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.859C>T; p.R287*; 3:25593575-25593575

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.727A>G; p.T243A; 3:25580663-25580663

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.742G>A; p.A248T; 3:25580678-25580678

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.356G>A; p.R119Q; 3:25501231-25501231

 skinmalignant_melanomaSubstitution - Missense

c.310T>C; p.F104L; 3:25501185-25501185

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.410G>T; p.R137L; 3:25501285-25501285

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; chronic_myeloid_leukaemiaSubstitution - Missense

c.229G>A; p.V77M; 3:25461264-25461264

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.805A>C; p.R269R; 3:25593521-25593521

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.243C>A; p.C81*; 3:25461278-25461278

 ovarycarcinoma; serous_carcinomaSubstitution - Nonsense

c.226C>T; p.R76*; 3:25461261-25461261

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.647G>C; p.G216A; 3:25580583-25580583

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.673G>A; p.A225T; 3:25580609-25580609

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.673G>A; p.A225T; 3:25580609-25580609

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.505G>A; p.E169K; 3:25569814-25569814

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1132C>T; p.R378C; 3:25594660-25594660

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1278G>A; p.E426E; 3:25596547-25596547

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.645G>A; p.L215L; 3:25580581-25580581

 breastcarcinomaSubstitution - coding silent

c.220delC; p.P75fs*39; 3:25461255-25461255

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.220delC; p.P75fs*39; 3:25461255-25461255

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.492G>A; p.K164K; 3:25569801-25569801

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.220delC; p.P75fs*39; 3:25461255-25461255

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1094A>G; p.H365R; 3:25594622-25594622

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.395G>A; p.R132Q; 3:25501270-25501270

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.395G>A; p.R132Q; 3:25501270-25501270

 pancreasNSSubstitution - Missense

c.628C>T; p.R210*; 3:25580564-25580564

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.890C>A; p.P297H; 3:25593606-25593606

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.330G>T; p.Q110H; 3:25501205-25501205

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.595G>T; p.G199C; 3:25569904-25569904

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1160G>C; p.R387P; 3:25596429-25596429

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.538C>T; p.L180F; 3:25569847-25569847

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.387C>T; p.T129T; 3:25501262-25501262

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.630A>T; p.R210R; 3:25580566-25580566

 breastcarcinomaSubstitution - coding silent

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