Biomarker: ARID1A

Histology type: endometrial carcinoma

Country: USA

Region: Boston

Followed up time :

Subgroup 1 name : EC

Subgroup 1 number: 17

Subgroup 2 name: endometriosis

Subgroup 2 number: 16

Conclusion: Complete loss of ARID1A expression by immunohistochemistry is highly specific for carcinoma, but retained expression is not informative.

Sample type : cytology

Sample method: immunohistochemistry

Expression pattern : complete loss( scored as 0)

Expression elevation: All slides were scored as either 0 (complete loss of staining) or 1 (retained staining). Partial loss of staining and any weak staining were scored as retained (1); only complete loss of staining was scored as 0.

Statictics: Mean

Cohort age: 60.5

Funtion Uniprot: Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Binds DNA non-specifically. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity).

UniProt ID: O14497

UniProt Link: https://www.uniprot.org/uniprotkb/O14497/entry

Biological function from UniProt: #Neurogenesis #Transcription #Transcription regulation

Molecular function from UniProt:

Tissue specificity from UniProt: Highly expressed in spleen, thymus, prostate, testis, ovary, small intestine, colon, and PBL, and at a much lower level in heart, brain, placenta, lung, liver, skeletal muscle, kidney, and pancreas.

Subcellular UniProt: #Nucleus

Alternative name from UniProt:

Recommended name: AT-rich interactive domain-containing protein 1A

Gene name from HGNC: ARID1A (B120, BAF250, BAF250a, C10rf4, C1orf4, P270, SMARCF1)

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

AlphaFold DB: O14497

AlphaFold Link: https://alphafold.ebi.ac.uk/entry/O14497

HPA link: https://www.proteinatlas.org/ENSG00000117713-ARID1A

Tissue specificity RNA from HPA: Low tissue specificity

Tissue expression from HPA: Ubiquitous nuclear expression.

Single cell type specificity Low cell type specificity

Immune cell specificity: Low immune cell specificity

Subcellular summary HPA Located in Nucleoplasm (CCD Transcript)

Cancer prognostic summary HPA Prognostic marker in liver cancer (unfavorable)

Pathology link: https://www.proteinatlas.org/ENSG00000117713-ARID1A/pathology

Pathology endo: https://www.proteinatlas.org/ENSG00000117713-ARID1A/pathology/endometrial+cancer

Phenotype ID: 614607

Disease: Coffin-Siris syndrome 2 (CSS2)

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

OMIM: 603024

OMIM link1: https://www.omim.org/entry/614607

OMIM link2: https://www.omim.org/entry/603024

HGNC ID: HGNC:11110

HGNC link: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11110