SART3 spliceosome associated factor 3, U4/U6 recycling protein
Information
- Symbol
- SART3
- Type
- protein-coding
- Description
- spliceosome associated factor 3, U4/U6 recycling protein
- Entrez Gene ID
- 9733
- Genome
- hg19
- Position
- chr12:108,916,481-108,954,935
- Genome
- hg38
- Position
- chr12:108,522,704-108,561,159
- MIM
- 611684 OMIM
- HGNC
- HGNC:16860 HGNC
- Ensembl
- ENSG00000075856 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely pathogenic | 0 | 16 |
| Benign | 20 | 10 |
| Likely benign | 0 | 6 |
| Uncertain significance | 0 | 70 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
82 |
 |
20 |
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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| 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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| Category | : |
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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 | : |
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| 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 | DSAP1 |
| SYNONYM | P100 |
| SYNONYM | RP11-13G14 |
| SYNONYM | TIP110 |
| SYNONYM | p110 |
| SYNONYM | p110(nrb) |
| MIM | 611684 OMIM |
| HGNC | HGNC:16860 HGNC |
| Ensembl | ENSG00000075856 Ensembl |
| AllianceGenome | HGNC:16860 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000546611.1 | hg38 | chr12 | 108,560,217 | 108,561,400 | 1,184 |
| ENST00000228284.8 | hg38 | chr12 | 108,522,704 | 108,561,159 | 38,456 |
| ENST00000546815.6 | hg38 | chr12 | 108,522,214 | 108,561,173 | 38,960 |
| ENST00000431469.6 | hg38 | chr12 | 108,523,412 | 108,561,159 | 37,748 |
| ENST00000228284.8 | hg19 | chr12 | 108,916,481 | 108,954,935 | 38,455 |
| ENST00000546611.1 | hg19 | chr12 | 108,953,993 | 108,955,176 | 1,184 |
| ENST00000431469.6 | hg19 | chr12 | 108,917,189 | 108,954,935 | 37,747 |
| ENST00000546815.6 | hg19 | chr12 | 108,915,991 | 108,954,949 | 38,959 |
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