XIST X inactive specific transcript
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| not provided | 6 | 0 |
Ranking
| ClinVar | |
|---|---|
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Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
| Target data | : |
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| Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| Filtering | : |
| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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| Filtering | : |
| Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | DXS1089 |
| SYNONYM | DXS399E |
| SYNONYM | LINC00001 |
| SYNONYM | NCRNA00001 |
| SYNONYM | SXI1 |
| SYNONYM | swd66 |
| MIM | 314670 OMIM |
| HGNC | HGNC:12810 HGNC |
| Ensembl | ENSG00000229807 Ensembl |
| AllianceGenome | HGNC:12810 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000635841.2 | hg38 | chrX | 73,820,848 | 73,850,624 | 29,777 |
| ENST00000650637.1 | hg38 | chrX | 73,820,892 | 73,851,867 | 30,976 |
| ENST00000650627.1 | hg38 | chrX | 73,820,651 | 73,851,592 | 30,942 |
| ENST00000647913.2 | hg38 | chrX | 73,820,672 | 73,841,474 | 20,803 |
| ENST00000417942.5 | hg38 | chrX | 73,820,656 | 73,826,301 | 5,646 |
| ENST00000429829.6 | hg38 | chrX | 73,820,656 | 73,852,723 | 32,068 |
| ENST00000650548.1 | hg38 | chrX | 73,820,717 | 73,842,684 | 21,968 |
| ENST00000648927.2 | hg38 | chrX | 73,825,959 | 73,841,639 | 15,681 |
| ENST00000648091.1 | hg38 | chrX | 73,824,624 | 73,830,651 | 6,028 |
| ENST00000416330.2 | hg38 | chrX | 73,820,653 | 73,826,889 | 6,237 |
| ENST00000416330.2 | hg19 | chrX | 73,040,488 | 73,046,724 | 6,237 |
| ENST00000417942.5 | hg19 | chrX | 73,040,491 | 73,046,136 | 5,646 |
| ENST00000429829.6 | hg19 | chrX | 73,040,491 | 73,072,558 | 32,068 |
| ENST00000648091.1 | hg19 | chrX | 73,044,459 | 73,050,486 | 6,028 |
| ENST00000648927.2 | hg19 | chrX | 73,045,794 | 73,061,474 | 15,681 |
| ENST00000635841.2 | hg19 | chrX | 73,040,683 | 73,070,459 | 29,777 |
| ENST00000647913.2 | hg19 | chrX | 73,040,507 | 73,061,309 | 20,803 |
| ENST00000650548.1 | hg19 | chrX | 73,040,552 | 73,062,519 | 21,968 |
| ENST00000650627.1 | hg19 | chrX | 73,040,486 | 73,071,427 | 30,942 |
| ENST00000650637.1 | hg19 | chrX | 73,040,727 | 73,071,702 | 30,976 |
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