| General information | Literature | Expression | Regulation | Variant | Interaction |
|
Basic Information |
|
|---|---|
Gene ID | 1672 |
Name | DEFB1 |
Synonymous | defensin, beta 1;DEFB1;defensin, beta 1 |
Definition | BD-1|beta defensin 1|beta-defensin 1|beta-defensin-1 |
Position | 8p23.1 |
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 |
 |
| The ratio of the loss-of-function mutations over missense mutations is 0.00. |
The copy number variations for various cancers | Top |
 |
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.8C>A; p.T3N; 8:6877850-6877850 |
breast | carcinoma | Substitution - Missense |
c.99T>A; p.D33E; 8:6870789-6870789 |
liver | carcinoma | Substitution - Missense |
c.99T>A; p.D33E; 8:6870789-6870789 |
liver | carcinoma | Substitution - Missense |
c.92G>A; p.R31K; 8:6870796-6870796 |
skin | malignant_melanoma | Substitution - Missense |
c.92G>A; p.R31K; 8:6870796-6870796 |
skin | malignant_melanoma | Substitution - Missense |
c.127C>T; p.Q43*; 8:6870761-6870761 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.79G>C; p.G27R; 8:6870809-6870809 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.124G>T; p.G42W; 8:6870764-6870764 |
liver | carcinoma | Substitution - Missense |
c.14A>G; p.Y5C; 8:6877844-6877844 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.73C>T; p.L25F; 8:6870815-6870815 |
skin | malignant_melanoma | Substitution - Missense |
c.128A>G; p.Q43R; 8:6870760-6870760 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |