ASPSCR1 ASPSCR1 tether for SLC2A4, UBX domain containing
Information
- Symbol
- ASPSCR1
- Type
- protein-coding
- Description
- ASPSCR1 tether for SLC2A4, UBX domain containing
- Entrez Gene ID
- 79058
- Genome
- hg19
- Position
- chr17:79,935,426-79,975,280
- Genome
- hg38
- Position
- chr17:81,977,550-82,017,404
- MIM
- 606236 OMIM
- HGNC
- HGNC:13825 HGNC
- Ensembl
- ENSG00000169696 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 8 |
| not provided | 1 | 0 |
| Uncertain significance | 0 | 82 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
90 |
 |
0 |
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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| 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
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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 | ASPCR1 |
| SYNONYM | ASPL |
| SYNONYM | ASPS |
| SYNONYM | RCC17 |
| SYNONYM | TUG |
| SYNONYM | UBXD9 |
| SYNONYM | UBXN9 |
| MIM | 606236 OMIM |
| HGNC | HGNC:13825 HGNC |
| Ensembl | ENSG00000169696 Ensembl |
| AllianceGenome | HGNC:13825 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000306729.11 | hg38 | chr17 | 81,977,550 | 82,017,404 | 39,855 |
| ENST00000306739.9 | hg38 | chr17 | 81,977,629 | 82,017,406 | 39,778 |
| ENST00000580534.5 | hg38 | chr17 | 81,977,634 | 82,017,404 | 39,771 |
| ENST00000581647.5 | hg38 | chr17 | 81,977,631 | 81,995,150 | 17,520 |
| ENST00000306729.11 | hg19 | chr17 | 79,935,426 | 79,975,280 | 39,855 |
| ENST00000306739.9 | hg19 | chr17 | 79,935,505 | 79,975,282 | 39,778 |
| ENST00000581647.5 | hg19 | chr17 | 79,935,507 | 79,953,026 | 17,520 |
| ENST00000580534.5 | hg19 | chr17 | 79,935,510 | 79,975,280 | 39,771 |
| Key | Value |
|---|---|
| strand | + |
| UniProt | OG |
| start | 79,935,425 |
| Gene Symbol | ASPSCR1 |
| Entrez GeneId | 79,058 |
| Chr Band | 17q25 |
| end | 79,975,281 |
| chr | chr17 |
| Name | alveolar soft part sarcoma chromosome region, candidate 1 |
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