XIST
Basic information
Region (hg38): X:73820649-73852723
Previous symbols: [ "DXS399E" ]
Links
Phenotypes
GenCC
Source:
Clinical Genomic Database
Source:
| Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
|---|---|---|---|---|---|
| X-inactivation, familial skewed, 1 | XL | General | Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing | General | 8825575; 9354806; 10090877; 10441596; 15731119; 19646676 |
| It has been suggested that the condition may be related to reproductive outcomes, but the evidence is mixed |
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the XIST gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 0 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 0 | 0 | 0 |
Variants in XIST
This is a list of pathogenic ClinVar variants found in the XIST region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| X-73820953-A-G | XIST-related disorder | Benign (Feb 24, 2019) | ||
| X-73821427-T-G | TSIX-related disorder | Likely benign (Aug 30, 2023) | ||
| X-73821764-T-A | XIST-related disorder | Likely benign (Mar 16, 2021) | ||
| X-73821979-C-T | TSIX-related disorder | Likely benign (Feb 24, 2022) | ||
| X-73822111-G-A | XIST-related disorder | Likely benign (Dec 13, 2019) | ||
| X-73822187-A-C | TSIX-related disorder | Likely benign (Mar 23, 2022) | ||
| X-73823081-T-G | XIST-related disorder | Benign (Nov 06, 2019) | ||
| X-73823462-G-A | TSIX-related disorder | Benign (Feb 24, 2019) | ||
| X-73823811-A-T | XIST-related disorder | Benign (Nov 25, 2019) | ||
| X-73823824-TG-T | XIST-related disorder | Benign (Jan 20, 2020) | ||
| X-73823963-T-C | TSIX-related disorder | Benign (Aug 09, 2019) | ||
| X-73824521-G-C | XIST-related disorder | Likely benign (Sep 09, 2024) | ||
| X-73827076-ATC-A | TSIX-related disorder | Likely benign (Jun 26, 2019) | ||
| X-73827109-G-A | TSIX-related disorder | Likely benign (May 16, 2022) | ||
| X-73827241-G-A | TSIX-related disorder | Likely benign (Nov 02, 2022) | ||
| X-73827734-C-T | XIST-related disorder | Benign (Jan 20, 2020) | ||
| X-73842183-A-G | XIST-related disorder | Likely benign (Mar 20, 2019) | ||
| X-73842202-TCTGGCTGTATC-T | XIST-related disorder | Likely benign (Feb 17, 2022) | ||
| X-73842484-G-A | XIST-related disorder | Likely benign (Oct 14, 2019) | ||
| X-73842620-A-G | XIST-related disorder | Benign (Jan 20, 2020) | ||
| X-73842633-T-C | XIST-related disorder | Benign (Jan 20, 2020) | ||
| X-73842826-A-G | XIST-related disorder | Benign (Jan 20, 2020) | ||
| X-73842999-G-A | XIST-related disorder | Likely benign (Apr 18, 2019) | ||
| X-73843628-GCA-G | XIST-related disorder | Likely benign (Feb 15, 2022) | ||
| X-73844076-T-C | XIST-related disorder | Benign (Sep 11, 2019) |
GnomAD
Source:
dbNSFP
Source:
Essentials
- essential_gene_CRISPR
- essential_gene_CRISPR2
- essential_gene_gene_trap
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.731
Mouse Genome Informatics
- Gene name
- Xist
- Phenotype
- embryo phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); reproductive system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); normal phenotype; hematopoietic system phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); immune system phenotype; growth/size/body region phenotype; endocrine/exocrine gland phenotype; cellular phenotype;