SS18L1 SS18L1 subunit of BAF chromatin remodeling complex
Information
- Symbol
- SS18L1
- Type
- protein-coding
- Description
- SS18L1 subunit of BAF chromatin remodeling complex
- Entrez Gene ID
- 26039
- Genome
- hg19
- Position
- chr20:60,718,825-60,757,570
- Genome
- hg38
- Position
- chr20:62,143,769-62,182,514
- MIM
- 606472 OMIM
- HGNC
- HGNC:15592 HGNC
- Ensembl
- ENSG00000184402 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 88 |
| Likely benign | 0 | 16 |
| Conflicting classifications of pathogenicity | 0 | 2 |
| Uncertain significance | 0 | 36 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
12 |
 |
122 |
 |
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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| 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 | |||||||||||
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MGeND data only
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| 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 | CREST |
| SYNONYM | LP2261 |
| SYNONYM | SMARCL2 |
| MIM | 606472 OMIM |
| HGNC | HGNC:15592 HGNC |
| Ensembl | ENSG00000184402 Ensembl |
| AllianceGenome | HGNC:15592 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000331758.8 | hg38 | chr20 | 62,143,769 | 62,182,514 | 38,746 |
| ENST00000370848.8 | hg38 | chr20 | 62,161,418 | 62,180,280 | 18,863 |
| ENST00000331758.8 | hg19 | chr20 | 60,718,825 | 60,757,570 | 38,746 |
| ENST00000370848.8 | hg19 | chr20 | 60,736,474 | 60,755,336 | 18,863 |
| Key | Value |
|---|---|
| strand | + |
| start | 60,718,775 |
| Gene Symbol | SS18L1 |
| Entrez GeneId | 26,039 |
| Chr Band | 20q13.3 |
| end | 60,757,565 |
| chr | chr20 |
| Name | synovial sarcoma translocation gene on chromosome 18-like 1 |
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