|
Gene id |
7503 |
| Gene Summary Protein Summary Gene ontology Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
XIST Gene UCSC Ensembl |
|
Aliases |
DXS1089, DXS399E, LINC00001, NCRNA00001, SXI1, swd66 |
|
Gene name |
X inactive specific transcript |
|
Alternate names |
X inactive specific transcript (non-protein coding), long intergenic non-protein coding RNA 1, |
|
Gene location |
Xq13.2 (73852752: 73820650) Exons: 3 NC_000023.11
|
|
Gene summary(Entrez) |
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
|
|
OMIM |
314670 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
| Associated diseases |
References |
| Familial skewed X-chromosome inactivation | KEGG:H00994 |
| Familial skewed X-chromosome inactivation | KEGG:H00994 |
| Cryptorchidism | MIK: 28606200 |
| Spermatogenic defects | MIK: 31037746 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 28606200 |
Cryptorchi
dism
|
|
|
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
| 31037746 |
Spermatoge
nic defect
s
|
|
|
16 (1 control,
15 cases)
|
Male infertility |
GSE6023 analyzed using GEO2R
|
Show abstract |
|