FTSJ1 FtsJ RNA 2'-O-methyltransferase 1
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 18 |
| Likely pathogenic | 0 | 4 |
| Benign | 0 | 32 |
| Likely benign | 0 | 34 |
| Conflicting classifications of pathogenicity | 0 | 4 |
| not provided | 7 | 2 |
| Uncertain significance | 0 | 58 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
26 |
 |
106 |
 |
8 |
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
|
| Category | : |
|
| Search word | : | |
| Filtering | : |
| 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
|
| Category | : |
|
| Search word | : | |
| 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
|
| Category | : |
|
| Search word | : | |
| 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 | CDLIV |
| SYNONYM | JM23 |
| SYNONYM | MRX44 |
| SYNONYM | MRX9 |
| SYNONYM | SPB1 |
| SYNONYM | TRMT7 |
| SYNONYM | XLID9 |
| MIM | 300499 OMIM |
| HGNC | HGNC:13254 HGNC |
| Ensembl | ENSG00000068438 Ensembl |
| AllianceGenome | HGNC:13254 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000348411.3 | hg38 | chrX | 48,476,199 | 48,486,350 | 10,152 |
| ENST00000396894.8 | hg38 | chrX | 48,476,021 | 48,486,364 | 10,344 |
| ENST00000019019.6 | hg38 | chrX | 48,476,161 | 48,486,299 | 10,139 |
| ENST00000396894.8 | hg19 | chrX | 48,334,409 | 48,344,752 | 10,344 |
| ENST00000019019.6 | hg19 | chrX | 48,334,549 | 48,344,687 | 10,139 |
| ENST00000348411.3 | hg19 | chrX | 48,334,587 | 48,344,738 | 10,152 |
Genome browser