Gene Gene information from NCBI Gene database.
Entrez ID 26039
Gene name SS18L1 subunit of BAF chromatin remodeling complex
Gene symbol SS18L1
Synonyms (NCBI Gene)
CRESTLP2261SMARCL2
Chromosome 20
Chromosome location 20q13.33
Summary This gene encodes a calcium-responsive transactivator which is an essential subunit of a neuron-specific chromatin-remodeling complex. The structure of this gene is similar to that of the SS18 gene. Mutations in this gene are involved in amyotrophic later
miRNA miRNA information provided by mirtarbase database.
360
miRTarBase ID miRNA Experiments Reference
MIRT677120 hsa-miR-3155a HITS-CLIP 23824327
MIRT677119 hsa-miR-3155b HITS-CLIP 23824327
MIRT677118 hsa-miR-484 HITS-CLIP 23824327
MIRT677117 hsa-miR-125a-3p HITS-CLIP 23824327
MIRT677116 hsa-miR-764 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
GO ID Ontology Definition Evidence Reference
GO:0000775 Component Chromosome, centromeric region IEA
GO:0000776 Component Kinetochore IDA 18331714
GO:0000776 Component Kinetochore IEA
GO:0000779 Component Condensed chromosome, centromeric region IEA
GO:0003713 Function Transcription coactivator activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606472 15592 ENSG00000184402
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O75177
Protein name Calcium-responsive transactivator (SS18-like protein 1) (SYT homolog 1)
Protein function Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regu
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05030 SSXT 13 74 SSXT protein (N-terminal region) Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous; with lowest levels in spleen.
Sequence
MSVAFASARPRGKGEVTQQTIQKMLDENHHLIQCILEYQSKGKTAECTQYQQILHRNLVY
LATIADSNQNMQSL
LPAPPTQNMNLGPGALTQSGSSQGLHSQGSLSDAISTGLPPSSLLQ
GQIGNGPSHVSMQQTAPNTLPTTSMSISGPGYSHAGPASQGVPMQGQGTIGNYVSRTNIN
MQSNPVSMMQQQAATSHYSSAQGGSQHYQGQSSIAMMGQGSQGSSMMGQRPMAPYRPSQQ
GSSQQYLGQEEYYGEQYSHSQGAAEPMGQQYYPDGHGDYAYQQSSYTEQSYDRSFEESTQ
HYYEGGNSQYSQQQAGYQQGAAQQQTYSQQQYPSQQSYPGQQQGYGSAQGAPSQYPGYQQ
GQGQQYGSYRAPQTAPSAQQQRPYGYEQGQYGNYQQ
Sequence length 396
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  ATP-dependent chromatin remodeling
Transcriptional misregulation in cancer
 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Amyotrophic lateral sclerosis Conflicting classifications of pathogenicity ClinVar
CTD, ClinGen, Disgenet, GenCC
CTD, ClinGen, Disgenet, GenCC
CTD, ClinGen, Disgenet, GenCC
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Gastric cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SS18L1-related disorder Benign; Likely benign; Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Thymoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Cerebrovascular Accidents Stroke BEFREE 31603298
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 24360741, 25888396, 28980860, 30976389, 31390360
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
AMYOTROPHIC LATERAL SCLEROSIS 1 Lateral Sclerosis GENOMICS_ENGLAND_DG 24360741
★☆☆☆☆
Found in Text Mining only
Anorexia Nervosa Anorexia BEFREE 29607561
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 8461929
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder BEFREE 28471066
★☆☆☆☆
Found in Text Mining only
Calcinosis cutis Calcinosis cutis BEFREE 10347101
★☆☆☆☆
Found in Text Mining only
Cerebrovascular accident Stroke BEFREE 30012816
★☆☆☆☆
Found in Text Mining only
Choledocholithiasis Choledocholithiasis BEFREE 31767583
★☆☆☆☆
Found in Text Mining only
Chromosome 11p11.2 Deletion Syndrome 11p11.2 Deletion Syndrome BEFREE 2570039
★☆☆☆☆
Found in Text Mining only