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Gene Gene information from NCBI Gene database.
Entrez ID 7503
Gene name X inactive specific transcript
Gene symbol XIST
Synonyms (NCBI Gene)
DXS1089DXS399ELINC00001NCRNA00001SXI1swd66
Chromosome X
Chromosome location Xq13.2
Summary X inactivation is an early developmental process in mammalian females that transcriptionally silences one of the pair of X chromosomes, thus providing dosage equivalence between males and females. The process is regulated by several factors, including a r
miRNA miRNA information provided by mirtarbase database.
8 Show/Hide all (8)
miRTarBase ID miRNA Experiments Reference
MIRT003171 hsa-miR-210-3p immunoprecipitaionLuciferase reporter assayMicroarrayqRT-PCR 19826008
MIRT003171 hsa-miR-210-3p immunoprecipitaionLuciferase reporter assayMicroarrayqRT-PCR 19826008
MIRT731182 hsa-miR-152-3p qRT-PCR/Luciferase reporter assayWestern blot 25578780
MIRT731182 hsa-miR-152-3p qRT-PCR/Luciferase reporter assayWestern blot 25578780
MIRT734229 hsa-miR-106a-5p Flow cytometryLuciferase reporter assayqRT-PCR 33400246
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
314670 12810 ENSG00000229807
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
X inactivation, familial skewed, 1 Likely pathogenic rs773396320 RCV000010433
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
XIST-related disorder Likely benign; Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (191)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 28961027, 31419261
★★★★★
★☆☆☆☆
Found in Text Mining only
Alopecia universalis Alopecia BEFREE 15337477
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 36928034 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Antiphospholipid Syndrome Antiphospholipid syndrome Pubtator 37914735 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Aortic Aneurysm BEFREE 26339353
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Dissection Aortic dissection Pubtator 26339353 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 29902461, 31539155
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 34165008, 37814309 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 33998076 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma Pubtator 32647207 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only