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

Basic Information

Gene ID

1647

Name

GADD45A

Synonymous

growth arrest and DNA-damage-inducible, alpha;GADD45A;growth arrest and DNA-damage-inducible, alpha

Definition

DDIT-1|DNA damage-inducible transcript 1 protein|DNA damage-inducible transcript-1|DNA-damage-inducible transcript 1|growth arrest and DNA damage-inducible protein GADD45 alpha|growth arrest and DNA-damage-inducible 45 alpha

Position

1p31.2

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 0.13.

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.344G>T; p.G115V; 1:67686547-67686547

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.473C>T; p.P158L; 1:67687749-67687749

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.299A>G; p.E100G; 1:67686502-67686502

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.418T>C; p.L140L; 1:67687694-67687694

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.72G>T; p.E24D; 1:67686052-67686052

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.71A>T; p.E24V; 1:67686051-67686051

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.451C>T; p.R151C; 1:67687727-67687727

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.115G>C; p.G39R; 1:67686095-67686095

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.453C>T; p.R151R; 1:67687729-67687729

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.209C>T; p.A70V; 1:67686412-67686412

 adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningSubstitution - Missense

c.391C>T; p.H131Y; 1:67687667-67687667

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.389_390delCA; p.H131fs*30; 1:67687665-67687666

 ovarycarcinoma; clear_cell_carcinomaDeletion - Frameshift

c.236A>G; p.Q79R; 1:67686439-67686439

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.349G>A; p.E117K; 1:67686552-67686552

 urinary_tract; bladdercarcinomaSubstitution - Missense

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