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

Basic Information

Gene ID

5887

Name

RAD23B

Synonymous

RAD23 homolog B (S. cerevisiae);RAD23B;RAD23 homolog B (S. cerevisiae)

Definition

RAD23, yeast homolog of, B|UV excision repair protein RAD23 homolog B|XP-C repair complementing complex 58 kDa|XP-C repair complementing protein|XP-C repair-complementing complex 58 kDa protein

Position

9q31.2

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

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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

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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

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Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.19.

The copy number variations for various cancers

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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.669G>A; p.E223E; 9:107318867-107318867

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.934C>G; p.Q312E; 9:107324006-107324006

 breastcarcinomaSubstitution - Missense

c.358A>C; p.T120P; 9:107306508-107306508

 breastcarcinomaSubstitution - Missense

c.557C>T; p.T186M; 9:107318755-107318755

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.557C>T; p.T186M; 9:107318755-107318755

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.584C>T; p.T195I; 9:107318782-107318782

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.586G>A; p.E196K; 9:107318784-107318784

 breastcarcinomaSubstitution - Missense

c.549A>G; p.A183A; 9:107311733-107311733

 livercarcinomaSubstitution - coding silent

c.1180G>A; p.E394K; 9:107329606-107329606

 breastcarcinomaSubstitution - Missense

c.999A>G; p.Q333Q; 9:107324887-107324887

 livercarcinomaSubstitution - coding silent

c.541A>G; p.T181A; 9:107311725-107311725

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.108A>C; p.K36N; 9:107300182-107300182

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.393G>A; p.A131A; 9:107306543-107306543

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.697A>T; p.R233*; 9:107321998-107321998

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.866G>A; p.R289K; 9:107323938-107323938

 breastcarcinomaSubstitution - Missense

c.1149G>A; p.V383V; 9:107329575-107329575

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.884A>G; p.N295S; 9:107323956-107323956

 livercarcinomaSubstitution - Missense

c.884A>G; p.N295S; 9:107323956-107323956

 livercarcinomaSubstitution - Missense

c.727C>T; p.Q243*; 9:107322028-107322028

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.543G>A; p.T181T; 9:107311727-107311727

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1054G>T; p.A352S; 9:107324942-107324942

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1148T>C; p.V383A; 9:107329574-107329574

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.824C>T; p.P275L; 9:107323896-107323896

 skinmalignant_melanomaSubstitution - Missense

c.915G>C; p.Q305H; 9:107323987-107323987

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.768_769insG; p.A257fs*21; 9:107322069-107322070

 central_nervous_system; brainglioma; astrocytoma_Grade_IVInsertion - Frameshift

c.553+1G>T; p.?; 9:107311738-107311738

 thyroidcarcinomaUnknown

c.746C>T; p.A249V; 9:107322047-107322047

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.746C>T; p.A249V; 9:107322047-107322047

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1159T>C; p.Y387H; 9:107329585-107329585

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.466C>T; p.P156S; 9:107306616-107306616

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1034G>A; p.G345D; 9:107324922-107324922

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.242C>G; p.S81C; 9:107306392-107306392

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.566C>A; p.S189Y; 9:107318764-107318764

 skinmalignant_melanomaSubstitution - Missense

c.181G>T; p.E61*; 9:107302067-107302067

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1032T>A; p.G344G; 9:107324920-107324920

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.942T>C; p.L314L; 9:107324014-107324014

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.344C>A; p.P115H; 9:107306494-107306494

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.371C>A; p.A124E; 9:107306521-107306521

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1129G>A; p.G377R; 9:107329555-107329555

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1129G>A; p.G377R; 9:107329555-107329555

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.887C>T; p.P296L; 9:107323959-107323959

 skinmalignant_melanomaSubstitution - Missense

c.650A>G; p.N217S; 9:107318848-107318848

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.799_801delACA; p.T269delT; 9:107322100-107322102

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.513T>C; p.S171S; 9:107311697-107311697

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.714_715GG>AA; p.V239I; 9:107322015-107322016

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1206A>G; p.L402L; 9:107329632-107329632

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.168T>C; p.D56D; 9:107302054-107302054

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.629C>T; p.A210V; 9:107318827-107318827

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.413C>G; p.A138G; 9:107306563-107306563

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.755C>A; p.S252Y; 9:107322056-107322056

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.877C>T; p.Q293*; 9:107323949-107323949

 breastcarcinomaSubstitution - Nonsense

c.558G>A; p.T186T; 9:107318756-107318756

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1096_1097insA; p.E368fs*13; 9:107324984-107324985

 lungcarcinoma; adenocarcinomaInsertion - Frameshift

c.575A>T; p.N192I; 9:107318773-107318773

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.589A>G; p.I197V; 9:107318787-107318787

 prostatecarcinomaSubstitution - Missense

c.1157C>T; p.A386V; 9:107329583-107329583

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.508G>A; p.D170N; 9:107311692-107311692

 skin; earcarcinoma; squamous_cell_carcinomaSubstitution - Missense

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