| General information | Literature | Expression | Regulation | Variant | Interaction |
|
Basic Information |
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|---|---|
Gene ID | 1437 |
Name | CSF2 |
Synonymous | colony stimulating factor 2 (granulocyte-macrophage);CSF2;colony stimulating factor 2 (granulocyte-macrophage) |
Definition | CSF|granulocyte macrophage-colony stimulating factor|granulocyte-macrophage colony-stimulating factor|molgramostin|sargramostim |
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 | Top |
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The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers | Top |
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Loss of Function mutations compare to missense mutations | Top |
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| The ratio of the loss-of-function mutations over missense mutations is 0.17. |
The copy number variations for various cancers | Top |
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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.121C>G; p.R41G; 5:132073944-132073944 |
soft_tissue; striated_muscle | rhabdomyosarcoma; embryonal | Substitution - Missense |
c.121C>G; p.R41G; 5:132073944-132073944 |
soft_tissue; striated_muscle | rhabdomyosarcoma | Substitution - Missense |
c.309G>T; p.Q103H; 5:132074917-132074917 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.319C>A; p.P107T; 5:132074927-132074927 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.253G>A; p.G85S; 5:132074861-132074861 |
skin | malignant_melanoma | Substitution - Missense |
c.409G>C; p.D137H; 5:132075826-132075826 |
pancreas | carcinoma | Substitution - Missense |
c.99G>C; p.V33V; 5:132073922-132073922 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.298C>A; p.H100N; 5:132074906-132074906 |
skin; ear | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.184G>T; p.E62*; 5:132074105-132074105 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.387C>G; p.D129E; 5:132075804-132075804 |
ovary | other; neoplasm | Substitution - Missense |
c.24C>T; p.L8L; 5:132073847-132073847 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.388T>C; p.F130L; 5:132075805-132075805 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Substitution - Missense |
c.104C>T; p.A35V; 5:132073927-132073927 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.323C>T; p.T108I; 5:132074931-132074931 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.323C>T; p.T108I; 5:132074931-132074931 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.350T>C; p.I117T; 5:132075767-132075767 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.350T>C; p.I117T; 5:132075767-132075767 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.170T>C; p.V57A; 5:132074091-132074091 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.135G>A; p.L45L; 5:132073958-132073958 |
skin | malignant_melanoma | Substitution - coding silent |
c.365G>A; p.S122N; 5:132075782-132075782 |
skin | malignant_melanoma | Substitution - Missense |