| General information | Literature | Expression | Regulation | Variant | Interaction |
|
Basic Information |
|
|---|---|
Gene ID | 7045 |
Name | TGFBI |
Synonymous | BIGH3|CDB1|CDG2|CDGG1|CSD|CSD1|CSD2|CSD3|EBMD|LCD1;transforming growth factor, beta-induced, 68kDa;TGFBI;transforming growth factor, beta-induced, 68kDa |
Definition | RGD-CAP|RGD-containing collagen-associated protein|beta ig-h3|kerato-epithelin|transforming growth factor-beta-induced protein ig-h3 |
Position | 5q31 |
Gene Type | protein-coding |
Gene Mutation: | GWAS results PAH samples Lung cancer |
GWAS results [Top] | ||
There is no record for TGFBI | ||
Lung cancer [Top] | ||
|
Mutation (Type; AA; Chr) |
Site |
Histology |
|---|---|---|
p.L265L; chr5:135385151-135385151 |
lung | adenocarcinoma; carcinoma |
p.G208G; chr5:135382704-135382704 |
lung | adenocarcinoma; carcinoma |
p.G460D; chr5:135390519-135390519 |
lung | adenocarcinoma; carcinoma |
p.E336K; chr5:135388688-135388688 |
lung | squamous_cell_carcinoma; carcinoma |
p.S375*; chr5:135388806-135388806 |
lung | squamous_cell_carcinoma; carcinoma |
p.?; chr5:135389778-135389778 |
lung | squamous_cell_carcinoma; carcinoma |
p.R257R; chr5:135383109-135383109 |
lung | adenocarcinoma; carcinoma |
p.R432T; chr5:135390435-135390435 |
lung | squamous_cell_carcinoma; carcinoma |
p.D233N; chr5:135383035-135383035 |
lung | squamous_cell_carcinoma; carcinoma |
p.G93V; chr5:135379791-135379791 |
lung | squamous_cell_carcinoma; carcinoma |
p.K447K; chr5:135390481-135390481 |
lung | adenocarcinoma; carcinoma |
p.?; chr5:135382023-135382023 |
lung | adenocarcinoma; carcinoma |