SFSWAP (splicing factor SWAP)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6433
Gene name Gene Name - the full gene name approved by the HGNC.
Splicing factor SWAP
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SFSWAP
Synonyms (NCBI Gene) Gene synonyms aliases
SFRS8, SWAP
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q24.33
Summary Summary of gene provided in NCBI Entrez Gene.
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 miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(15)
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(6)
GO ID Ontology Definition Evidence Reference
GO:0000380 Process Alternative mRNA splicing, via spliceosome IEA
GO:0000395 Process MRNA 5'-splice site recognition IBA 21873635
GO:0003723 Function RNA binding IEA
GO:0005515 Function Protein binding IPI 26420826
GO:0005634 Component Nucleus IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
601945 10790 ENSG00000061936
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Autism spectrum disorder Autism Spectrum Disorders rs724159978, rs75184679, rs119103221, rs9332964, rs121912562, rs1594344233, rs727504317, rs111033204, rs1801086, rs587784464, rs724159948, rs764659822, rs794727977, rs796052733, rs796052728
View all (51 more)		 24781735
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Ischemic Stroke Ischemic Stroke GWAS
Show/Hide Text Mining Associations (5)
Associations from Text Mining
Disease Name Relationship Type References
Asthma Associate 16738036
Bone Diseases Associate 35184390
Multiple Myeloma Associate 35184390
Weight Gain Associate 30618290
Weight Loss Associate 28275132