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

Basic Information

Gene ID

1958

Name

EGR1

Synonymous

early growth response 1;EGR1;early growth response 1

Definition

EGR-1|early growth response protein 1|nerve growth factor-induced protein A|transcription factor ETR103|transcription factor Zif268|zinc finger protein 225|zinc finger protein Krox-24

Position

5q31.1

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

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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 0.33.

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.108G>A; p.E36E; 5:138465870-138465870

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - coding silent

c.450G>A; p.W150*; 5:138466899-138466899

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.959G>A; p.R320H; 5:138467408-138467408

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1123C>T; p.R375C; 5:138467572-138467572

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1626T>C; p.I542I; 5:138468075-138468075

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1440G>A; p.S480S; 5:138467889-138467889

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent


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