| General information | Literature | Expression | Regulation | Variant | Interaction |
|
Basic Information |
|
|---|---|
Gene ID | 117581 |
Name | TWIST2 |
Synonymous | twist family bHLH transcription factor 2;TWIST2;twist family bHLH transcription factor 2 |
Definition | class A basic helix-loop-helix protein 39|dermis-expressed protein 1|twist basic helix-loop-helix transcription factor 2|twist homolog 2|twist-related bHLH protein Dermo1|twist-related protein 2 |
Position | 2q37.3 |
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 |
 |
The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers | Top |
 |
 |
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.455G>A; p.G152D; 2:238848670-238848670 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.54C>T; p.S18S; 2:238848269-238848269 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.438C>T; p.S146S; 2:238848653-238848653 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.435C>A; p.F145L; 2:238848650-238848650 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.227G>A; p.R76H; 2:238848442-238848442 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.268C>T; p.R90C; 2:238848483-238848483 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.180C>T; p.S60S; 2:238848395-238848395 |
breast | carcinoma | Substitution - coding silent |
c.219G>A; p.V73V; 2:238848434-238848434 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.75G>T; p.Q25H; 2:238848290-238848290 |
thyroid | other; neoplasm | Substitution - Missense |