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

Basic Information

Gene ID

8431

Name

NR0B2

Synonymous

nuclear receptor subfamily 0, group B, member 2;NR0B2;nuclear receptor subfamily 0, group B, member 2

Definition

nuclear receptor SHP|nuclear receptor subfamily 0 group B member 2|orphan nuclear receptor SHP|small heterodimer partner

Position

1p36.1

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 0.00.

The copy number variations for various cancers

Top

There is no record for NR0B2

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.375G>T; p.E125D; 1:26913566-26913566

 thyroidother; neoplasmSubstitution - Missense

c.716C>A; p.P239H; 1:26911903-26911903

 pancreascarcinomaSubstitution - Missense

c.253C>T; p.R85W; 1:26913688-26913688

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.700G>A; p.D234N; 1:26911919-26911919

 skinmalignant_melanomaSubstitution - Missense

c.253C>T; p.R85W; 1:26913688-26913688

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.416C>A; p.P139H; 1:26913525-26913525

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.713G>A; p.R238H; 1:26911906-26911906

 NSNSSubstitution - Missense

c.713G>A; p.R238H; 1:26911906-26911906

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.202G>A; p.A68T; 1:26913739-26913739

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.613C>T; p.P205S; 1:26912006-26912006

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.663C>A; p.A221A; 1:26911956-26911956

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.745C>T; p.L249F; 1:26911874-26911874

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.446T>G; p.L149R; 1:26913495-26913495

 livercarcinomaSubstitution - Missense

c.678C>T; p.S226S; 1:26911941-26911941

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.432T>G; p.A144A; 1:26913509-26913509

 livercarcinomaSubstitution - coding silent

c.317C>T; p.T106I; 1:26913624-26913624

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.683C>T; p.P228L; 1:26911936-26911936

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.683C>T; p.P228L; 1:26911936-26911936

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.670C>A; p.L224I; 1:26911949-26911949

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.712C>T; p.R238C; 1:26911907-26911907

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.354C>G; p.L118L; 1:26913587-26913587

 pancreascarcinomaSubstitution - coding silent

c.639C>T; p.R213R; 1:26911980-26911980

 skinmalignant_melanomaSubstitution - coding silent

c.20G>A; p.G7E; 1:26913921-26913921

 skinmalignant_melanomaSubstitution - Missense

c.370G>A; p.E124K; 1:26913571-26913571

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.69A>G; p.A23A; 1:26913872-26913872

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.238C>T; p.P80S; 1:26913703-26913703

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.770G>A; p.R257K; 1:26911849-26911849

 livercarcinomaSubstitution - Missense

c.647G>A; p.R216H; 1:26911972-26911972

 breastcarcinomaSubstitution - Missense

c.647G>A; p.R216H; 1:26911972-26911972

 central_nervous_system; thalamusglioma; oligoastrocytoma_Grade_IIISubstitution - Missense

c.157C>G; p.H53D; 1:26913784-26913784

 breastcarcinomaSubstitution - Missense

c.715C>T; p.P239S; 1:26911904-26911904

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.715C>T; p.P239S; 1:26911904-26911904

 skinmalignant_melanomaSubstitution - Missense

c.256C>T; p.R86W; 1:26913685-26913685

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.321T>A; p.F107L; 1:26913620-26913620

 skinmalignant_melanomaSubstitution - Missense

c.199G>A; p.V67M; 1:26913742-26913742

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.553G>A; p.A185T; 1:26912066-26912066

 central_nervous_system; brainstemglioma; astrocytoma_Grade_IISubstitution - Missense

c.553G>A; p.A185T; 1:26912066-26912066

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.246G>A; p.Q82Q; 1:26913695-26913695

 skinmalignant_melanomaSubstitution - coding silent

c.448C>T; p.Q150*; 1:26913493-26913493

 skinmalignant_melanomaSubstitution - Nonsense

c.36G>A; p.Q12Q; 1:26913905-26913905

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.169C>A; p.R57R; 1:26913772-26913772

 oesophaguscarcinomaSubstitution - coding silent

c.67G>T; p.A23S; 1:26913874-26913874

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.493G>A; p.E165K; 1:26913448-26913448

 skinmalignant_melanomaSubstitution - Missense

c.493G>A; p.E165K; 1:26913448-26913448

 skinmalignant_melanomaSubstitution - Missense

c.565G>A; p.G189R; 1:26912054-26912054

 skinmalignant_melanomaSubstitution - Missense

c.450A>G; p.Q150Q; 1:26913491-26913491

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.137C>T; p.P46L; 1:26913804-26913804

 skinmalignant_melanomaSubstitution - Missense

c.292C>T; p.L98F; 1:26913649-26913649

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

')