KDM6A lysine demethylase 6A
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 20 | 156 |
| Likely pathogenic | 1 | 94 |
| Benign | 0 | 270 |
| Likely benign | 0 | 558 |
| Conflicting classifications of pathogenicity | 0 | 50 |
| not provided | 71 | 12 |
| Uncertain significance | 3 | 708 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
242 |
 |
1,418 |
 |
72 |
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 | : |
MGeND data only
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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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| 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 | KABUK2 |
| SYNONYM | UTX |
| SYNONYM | bA386N14.2 |
| MIM | 300128 OMIM |
| HGNC | HGNC:12637 HGNC |
| Ensembl | ENSG00000147050 Ensembl |
| AllianceGenome | HGNC:12637 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000683021.1 | hg38 | chrX | 44,873,552 | 45,112,542 | 238,991 |
| ENST00000611820.5 | hg38 | chrX | 44,873,188 | 45,112,779 | 239,592 |
| ENST00000674586.1 | hg38 | chrX | 44,873,188 | 45,112,542 | 239,355 |
| ENST00000382899.9 | hg38 | chrX | 44,873,188 | 45,112,598 | 239,411 |
| ENST00000674867.1 | hg38 | chrX | 44,873,188 | 45,112,542 | 239,355 |
| ENST00000377967.9 | hg38 | chrX | 44,873,188 | 45,112,602 | 239,415 |
| ENST00000543216.6 | hg38 | chrX | 44,873,188 | 45,112,598 | 239,411 |
| ENST00000536777.6 | hg38 | chrX | 44,873,188 | 45,112,598 | 239,411 |
| ENST00000543216.6 | hg19 | chrX | 44,732,434 | 44,971,843 | 239,410 |
| ENST00000377967.9 | hg19 | chrX | 44,732,434 | 44,971,847 | 239,414 |
| ENST00000536777.6 | hg19 | chrX | 44,732,434 | 44,971,843 | 239,410 |
| ENST00000382899.9 | hg19 | chrX | 44,732,434 | 44,971,843 | 239,410 |
| ENST00000674867.1 | hg19 | chrX | 44,732,434 | 44,971,787 | 239,354 |
| ENST00000611820.5 | hg19 | chrX | 44,732,434 | 44,972,024 | 239,591 |
| ENST00000674586.1 | hg19 | chrX | 44,732,434 | 44,971,787 | 239,354 |
| ENST00000683021.1 | hg19 | chrX | 44,732,798 | 44,971,787 | 238,990 |
| Key | Value |
|---|---|
| strand | + |
| start | 44,732,420 |
| Vogelstein | TSG |
| Gene Symbol | KDM6A |
| Entrez GeneId | 7,403 |
| Chr Band | Xp11.2 |
| end | 44,971,856 |
| chr | chrX |
| Name | lysine (K)-specific demethylase 6A, UTX |
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