SFSWAP (splicing factor SWAP)

Gene

• Entrez ID: 6433
• Gene name: Splicing factor SWAP
• Gene symbol: SFSWAP
• Synonyms (NCBI Gene): SFRS8, SWAP
• Chromosome: 12
• Chromosome location: 12q24.33
• Summary: This gene encodes a human homolog of Drosophila splicing regulatory protein. This gene autoregulates its expression by control of splicing of its first two introns. In addition, it also regulates the splicing of fibronectin and CD45 genes. Two transcript

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT052638	hsa-let-7a-5p	CLASH	23622248
MIRT047090	hsa-miR-183-5p	CLASH	23622248
MIRT439651	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439651	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT1341983	hsa-miR-3613-3p	CLIP-seq
MIRT1341984	hsa-miR-4698	CLIP-seq
MIRT1341985	hsa-miR-4699-3p	CLIP-seq
MIRT1341986	hsa-miR-4775	CLIP-seq
MIRT1341987	hsa-miR-494	CLIP-seq
MIRT1341988	hsa-miR-520d-5p	CLIP-seq
MIRT1341989	hsa-miR-524-5p	CLIP-seq
MIRT1341990	hsa-miR-552	CLIP-seq
MIRT1341986	hsa-miR-4775	CLIP-seq
MIRT1341988	hsa-miR-520d-5p	CLIP-seq
MIRT1341989	hsa-miR-524-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000380	Process	Alternative mRNA splicing, via spliceosome	IEA
GO:0000395	Process	MRNA 5'-splice site recognition	IBA
GO:0000395	Process	MRNA 5'-splice site recognition	IEA
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	26420826, 28514442, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0006396	Process	RNA processing	IEA
GO:0006397	Process	MRNA processing	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0048025	Process	Negative regulation of mRNA splicing, via spliceosome	ISS

Other IDs

• MIM: 601945
• HGNC: 10790
• e!Ensembl: ENSG00000061936

Protein

• UniProt ID: Q12872
• Protein name: Splicing factor, suppressor of white-apricot homolog (Splicing factor, arginine/serine-rich 8) (Suppressor of white apricot protein homolog)
• Protein function: Plays a role as an alternative splicing regulator. Regulate its own expression at the level of RNA processing. Also regulates the splicing of fibronectin and CD45 genes. May act, at least in part, by interaction with other R/S-containing splicin
• PDB: 2E5Z, 2E60
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09750	DRY_EERY	34 → 156	Alternative splicing regulator	Domain
  PF01805	Surp	209 → 259	Surp module	Family
  PF01805	Surp	458 → 505	Surp module	Family

• Sequence:

  MYGASGGRAKPERKSGAKEEAGPGGAGGGGSRVELLVFGYACKLFRDDERALAQEQGQHL
  IPWMGDHKILIDRYDGRGHLHDLSEYDAEYSTWNRDYQLSEEEARIEALCDEERYLALHT
  DLLEEEARQEEEYKRLSEALAEDGSYNAVGFTYGSDYYDPSEPTEEEEPSKQREKNEAEN
  LEENEEPFVAPLGLSVPSDVELPPTAKMHAIIERTASFVCRQGAQFEIMLKAKQARNSQF
  DFLRFDHYLNPYYKFIQKAMKEGRYTVLAENKSDEKKKSGVSSDNEDDDDEEDGNYLHPS
  LFASKKCNRLEELMKPLKVVDPDHPLAALVRKAQADSSTPTPHNADGAPVQPSQVEYTAD
  STVAAMYYSYYMLPDGTYCLAPPPPGIDVTTYYSTLPAGVTVSNSPGVTTTAPPPPGTTP
  LPPPTTAETSSGATSTTTTTSALAPVAAIIPPPPDVQPVIDKLAEYVARNGLKFETSVRA
  KNDQRFEFLQPWHQYNAYYEFKKQFFLQKEGGDSMQAVSAPEEAPTDSAPEKPSDAGEDG
  APEDAAEVGARAGSGGKKEASSSKTVPDGKLVKASFAPISFAIKAKENDLLPLEKNRVKL
  DDDSDDDEESKEGQESSSSAANTNPAVAPPCVVVEEKKPQLTQEELEAKQAKQKLEDRLA
  AAAREKLAQASKESKEKQLQAERKRKAALFLQTLKNPLPEAEAGKIEESPFSVEESSTTP
  CPLLTGGRPLPTLEVKPPDRPSSKSKDPPREEEKEKKKKKHKKRSRTRSRSPKYHSSSKS
  RSRSHSKAKHSLPSAYRTVRRSRSRSRSPRRRAHSPERRREERSVPTAYRVSRSPGASRK
  RTRSRSPHEKKKKRRSRSRTKSKARSQSVSPSKQAAPRPAAPAAHSAHSASVSPVESRGS
  SQERSRGVSQEKEAQISSAIVSSVQSKITQDLMAKVRAMLAASKNLQTSAS

• Sequence length: 951

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINAL DETACHMENT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Asthma	Associate	16738036	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Associate	35184390	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Associate	35184390	★☆☆☆☆ Found in Text Mining only
Weight Gain	Associate	30618290	★☆☆☆☆ Found in Text Mining only
Weight Loss	Associate	28275132	★☆☆☆☆ Found in Text Mining only