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

Basic Information

Gene ID

4616

Name

GADD45B

Synonymous

growth arrest and DNA-damage-inducible, beta;GADD45B;growth arrest and DNA-damage-inducible, beta

Definition

growth arrest and DNA damage-inducible protein GADD45 beta|myeloid differentiation primary response protein MyD118|negative growth regulatory protein MyD118

Position

19p13.3

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 0.14.

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.285G>A; p.M95I; 19:2477167-2477167

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.266T>A; p.I89N; 19:2477148-2477148

 skinmalignant_melanomaSubstitution - Missense

c.303C>T; p.L101L; 19:2477185-2477185

 skinmalignant_melanomaSubstitution - coding silent

c.466T>A; p.S156T; 19:2477584-2477584

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.207C>T; p.I69I; 19:2477089-2477089

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.42_44+1delGAAG; p.?; 19:2476400-2476403

 lungcarcinoma; adenocarcinomaUnknown

c.376C>T; p.H126Y; 19:2477494-2477494

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.146T>C; p.V49A; 19:2476630-2476630

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.107T>C; p.L36P; 19:2476591-2476591

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.267_268insG; p.V90fs*>72; 19:2477149-2477150

 ovarycarcinoma; serous_carcinomaInsertion - Frameshift

c.374C>G; p.P125R; 19:2477492-2477492

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.103C>T; p.R35C; 19:2476587-2476587

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.235C>T; p.Q79*; 19:2477117-2477117

 skinmalignant_melanomaSubstitution - Nonsense

c.160G>A; p.V54M; 19:2477042-2477042

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.475G>C; p.E159Q; 19:2477593-2477593

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.55G>C; p.V19L; 19:2476539-2476539

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.382G>A; p.D128N; 19:2477500-2477500

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.189G>C; p.E63D; 19:2477071-2477071

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

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