Biomarker: TWIST1

Histology type: endometrioid endometrial carcinoma

Country: Chinese

Region: Zhejiang

Study type: retrospective

Followed up time :

Subgroup 1 name : Low

Subgroup 1 number: 169

Subgroup 2 name: High

Subgroup 2 number: 84

Conclusion: Our findings suggest that TWIST1 might be useful in diagnosing ECs and predicting prognosis in patients with AHs and type I ECs.

Sample type : tissue

Sample method: immunohistochemistry

Expression pattern : high expression(score≥4)

Expression elevation: To evaluate TWIST1 expression, staining intensity was scored as 0 (negative), 1 (weakly positive), 2 (moderately positive), and 3 (strongly positive). The staining distribution was scored as 0 (0%–10%), 1 (11%–25%), 2 (26%–50%), 3 (51%–75%), and 4 (76%–100%) according to the percentage of the positive staining areas in relation to the total cancer areas. The sum of the staining intensity and distribution scores were used as the final staining score (0–7) for the level of TWIST1 expression. A final score <4 was considered low expression and ≥4 as high expression.

Statictics: cutoff<60;cutoff>60

Cohort age: 60;68

Subgroup 1 age: 195;40

Subgroup 2 age: 129;28

Funtion Uniprot: Acts as a transcriptional regulator. Inhibits myogenesis by sequestrating E proteins, inhibiting trans-activation by MEF2, and inhibiting DNA-binding by MYOD1 through physical interaction. This interaction probably involves the basic domains of both proteins. Also represses expression of pro-inflammatory cytokines such as TNFA and IL1B. Regulates cranial suture patterning and fusion. Activates transcription as a heterodimer with E proteins. Regulates gene expression differentially, depending on dimer composition. Homodimers induce expression of FGFR2 and POSTN while heterodimers repress FGFR2 and POSTN expression and induce THBS1 expression. Heterodimerization is also required for osteoblast differentiation. Represses the activity of the circadian transcriptional activator: NPAS2-ARNTL/BMAL1 heterodimer (By similarity)

UniProt ID: Q15672

UniProt Link: https://www.uniprot.org/uniprotkb/Q15672/entry

Biological function from UniProt: #Biological rhythms #Differentiation #Myogenesis #Transcription #Transcription regulation

Molecular function from UniProt:

Tissue specificity from UniProt: Subset of mesodermal cells.

Subcellular UniProt: #Nucleus

Alternative name from UniProt:

Recommended name: Twist-related protein 1

Gene name from HGNC: TWIST1 (ACS3, bHLHa38, BPES2, BPES3, CRS, CRS1, H-twist, SCS, TWIST)

HPA class: Cancer-related genes Disease related genes Human disease related genes Transcription factors

AlphaFold DB: Q15672

AlphaFold Link: https://alphafold.ebi.ac.uk/entry/Q15672

HPA link: https://www.proteinatlas.org/ENSG00000122691-TWIST1

Tissue specificity RNA from HPA: Tissue enhanced (breast)

Single cell type specificity Cell type enhanced (Endometrial stromal cells, Fibroblasts, Smooth muscle cells, Langerhans cells, Theca cells)

Immune cell specificity: Not detected in immune cells

Cancer prognostic summary HPA Gene product is not prognostic

Pathology link: https://www.proteinatlas.org/ENSG00000122691-TWIST1/pathology

Pathology endo: ;https://www.proteinatlas.org/ENSG00000122691-TWIST1/pathology/endometrial+cancer;

Expression figure legend: Representative immunohistochemical staining demonstrating the expression of TWIST1 in atypical endometrial hyperplasia (AH) and type I endometrial cancer (EC).

Expression figure link: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7710231/figure/F1/

Survival figure legend: Kaplan-Meyer curves showed the association between elevated expression of TWIST1 with patient disease-free survival (DFS) and overall survival (OS).

Survival curve link: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7710231/figure/F2/

Phenotype ID: 101400;123100; 180750;617746;

Disease: Saethre-Chotzen syndrome (SCS)；Craniosynostosis 1 (CRS1)；Craniosynostosis 1 (CRS1)

Note1: The disease is caused by variants affecting the gene represented in this entry; The disease is caused by variants affecting the gene represented in this entry ;The disease is caused by variants affecting the gene represented in this entry ;The disease is caused by variants affecting the gene represented in this entry ;

OMIM: 601622

OMIM link1: https://www.omim.org/entry/101400;https://www.omim.org/entry/123100;https://www.omim.org/entry/180750;https://www.omim.org/entry/617746;

OMIM link2: https://www.omim.org/entry/601622

HGNC ID: HGNC:12428

HGNC link: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12428