TSEN54 tRNA splicing endonuclease subunit 54
Information
- Symbol
- TSEN54
- Type
- protein-coding
- Description
- tRNA splicing endonuclease subunit 54
- Entrez Gene ID
- 283989
- Genome
- hg19
- Position
- chr17:73,512,609-73,520,816
- Genome
- hg38
- Position
- chr17:75,516,528-75,524,735
- MIM
- 608755 OMIM
- HGNC
- HGNC:27561 HGNC
- Ensembl
- ENSG00000182173 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 104 |
| Likely pathogenic | 0 | 46 |
| Benign | 0 | 96 |
| Likely benign | 0 | 558 |
| Conflicting classifications of pathogenicity | 0 | 54 |
| Uncertain significance | 0 | 400 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
204 |
 |
968 |
 |
6 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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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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| 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 | PCH2A |
| SYNONYM | PCH4 |
| SYNONYM | PCH5 |
| SYNONYM | SEN54L |
| SYNONYM | sen54 |
| MIM | 608755 OMIM |
| HGNC | HGNC:27561 HGNC |
| Ensembl | ENSG00000182173 Ensembl |
| AllianceGenome | HGNC:27561 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000333213.11 | hg38 | chr17 | 75,516,528 | 75,524,735 | 8,208 |
| ENST00000545228.3 | hg38 | chr17 | 75,516,548 | 75,524,693 | 8,146 |
| ENST00000680999.1 | hg38 | chr17 | 75,516,548 | 75,524,698 | 8,151 |
| ENST00000434205.8 | hg38 | chr17 | 75,516,060 | 75,524,735 | 8,676 |
| ENST00000434205.8 | hg19 | chr17 | 73,512,141 | 73,520,816 | 8,676 |
| ENST00000333213.11 | hg19 | chr17 | 73,512,609 | 73,520,816 | 8,208 |
| ENST00000545228.3 | hg19 | chr17 | 73,512,629 | 73,520,774 | 8,146 |
| ENST00000680999.1 | hg19 | chr17 | 73,512,629 | 73,520,779 | 8,151 |
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