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Aliases for SFSWAP Gene

Aliases for SFSWAP Gene

  • Splicing Factor SWAP Homolog 2 3 5
  • Splicing Factor, Arginine/Serine-Rich 8 (Suppressor-Of-White-Apricot, Drosophila Homolog) 2 3
  • Splicing Factor, Arginine/Serine-Rich 8 (Suppressor-Of-White-Apricot Homolog, Drosophila) 2 3
  • Splicing Factor, Suppressor Of White-Apricot Homolog 2 3
  • Suppressor Of White Apricot Protein Homolog 3 4
  • SFRS8 3 4
  • SWAP 3 4
  • Splicing Factor, Suppressor Of White-Apricot Homolog (Drosophila) 2
  • Splicing Factor, Suppressor Of White-Apricot Family 3
  • Splicing Factor, Arginine/Serine-Rich 8 4

External Ids for SFSWAP Gene

Previous HGNC Symbols for SFSWAP Gene

  • SFRS8

Previous GeneCards Identifiers for SFSWAP Gene

  • GC12P132196

Summaries for SFSWAP Gene

Entrez Gene Summary for SFSWAP 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 variants encoding different isoforms have been identified. [provided by RefSeq, May 2012]

GeneCards Summary for SFSWAP Gene

SFSWAP (Splicing Factor SWAP Homolog) is a Protein Coding gene. Among its related pathways are mRNA Splicing - Major Pathway. GO annotations related to this gene include RNA binding.

UniProtKB/Swiss-Prot for SFSWAP Gene

  • 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 splicing factors. Represses the splicing of MAPT/Tau exon 10.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SFSWAP Gene

Genomics for SFSWAP Gene

Regulatory Elements for SFSWAP Gene

Enhancers for SFSWAP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12F130765 0.2 ENCODE 78.4 -945.9 -945861 0.4 HDGF PKNOX1 ATF1 ARNT WRNIP1 ZNF493 ZNF133 YBX1 FEZF1 BRCA1 SFSWAP ENSG00000256299 ENSG00000255933 STX2 ENSG00000279650 RIMBP2
GH12F131864 0.5 ENCODE 56.3 +154.3 154300 1.2 ATF1 PKNOX1 ZNF133 SIN3A YBX1 PLRG1 RAD21 ZNF155 ZNF302 SMARCC2 EP400 GOLGA3 SFSWAP DDX51 ENSG00000255933 FBRSL1 NOC4L EP400NL RNU6-1017P MMP17
GH12F130766 0.9 ENCODE 49.8 -946.3 -946321 0.2 HDGF PKNOX1 ATF1 ZNF493 ZNF133 YBX1 GLI4 BRCA1 ZNF2 ZNF416 SFSWAP ENSG00000256299 ENSG00000255933 STX2 ENSG00000279650 RIMBP2
GH12F131859 1.7 FANTOM5 Ensembl ENCODE 25.5 +151.0 151040 4.7 PKNOX1 ARNT CREB3L1 MLX ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 EP400 SFSWAP GOLGA3 DDX51 MMP17 RNU6-1017P ULK1 ENSG00000256955
GH12F131782 1.3 Ensembl ENCODE 22.5 +73.6 73553 4.0 TBP HDAC1 ATF1 CBX3 PKNOX1 TBL1XR1 CREB3L1 INSM2 SIN3A ZBTB40 MMP17 SFSWAP EP400 EP400NL RNU6-1017P ADGRD1 DDX51 NOC4L RNA5SP378 GC12M131802
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SFSWAP on UCSC Golden Path with GeneCards custom track

Promoters for SFSWAP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000439501 119 2401 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2

Genomic Location for SFSWAP Gene

Chromosome:
12
Start:
131,711,081 bp from pter
End:
131,799,738 bp from pter
Size:
88,658 bases
Orientation:
Plus strand

Genomic View for SFSWAP Gene

Genes around SFSWAP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SFSWAP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SFSWAP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SFSWAP Gene

Proteins for SFSWAP Gene

  • Protein details for SFSWAP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q12872-SFSWA_HUMAN
    Recommended name:
    Splicing factor, suppressor of white-apricot homolog
    Protein Accession:
    Q12872
    Secondary Accessions:
    • B2RN45
    • B7ZM97
    • F5H6B8
    • Q6PJF7

    Protein attributes for SFSWAP Gene

    Size:
    951 amino acids
    Molecular mass:
    104822 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for SFSWAP Gene

    Alternative splice isoforms for SFSWAP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SFSWAP Gene

Post-translational modifications for SFSWAP Gene

  • Ubiquitination at Lys 473
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SFSWAP Gene

Domains & Families for SFSWAP Gene

Protein Domains for SFSWAP Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for SFSWAP Gene

Graphical View of Domain Structure for InterPro Entry

Q12872

UniProtKB/Swiss-Prot:

SFSWA_HUMAN :
  • Contains 2 SURP motif repeats.
Similarity:
  • Contains 2 SURP motif repeats.
genes like me logo Genes that share domains with SFSWAP: view

No data available for Gene Families for SFSWAP Gene

Function for SFSWAP Gene

Molecular function for SFSWAP Gene

UniProtKB/Swiss-Prot 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 splicing factors. Represses the splicing of MAPT/Tau exon 10.

Gene Ontology (GO) - Molecular Function for SFSWAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
GO:0005515 protein binding IPI 26420826
genes like me logo Genes that share ontologies with SFSWAP: view
genes like me logo Genes that share phenotypes with SFSWAP: view

Animal Model Products

miRNA for SFSWAP Gene

miRTarBase miRNAs that target SFSWAP

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SFSWAP Gene

Localization for SFSWAP Gene

Subcellular locations from UniProtKB/Swiss-Prot for SFSWAP Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SFSWAP Gene COMPARTMENTS Subcellular localization image for SFSWAP gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 2

Gene Ontology (GO) - Cellular Components for SFSWAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with SFSWAP: view

Pathways & Interactions for SFSWAP Gene

SuperPathways for SFSWAP Gene

SuperPathway Contained pathways
1 mRNA Splicing - Major Pathway
genes like me logo Genes that share pathways with SFSWAP: view

Pathways by source for SFSWAP Gene

1 BioSystems pathway for SFSWAP Gene

Interacting Proteins for SFSWAP Gene

Gene Ontology (GO) - Biological Process for SFSWAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000380 alternative mRNA splicing, via spliceosome IEA --
GO:0000395 mRNA 5-splice site recognition IEA,IBA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006396 RNA processing IEA --
genes like me logo Genes that share ontologies with SFSWAP: view

No data available for SIGNOR curated interactions for SFSWAP Gene

Transcripts for SFSWAP Gene

Unigene Clusters for SFSWAP Gene

Splicing factor, suppressor of white-apricot homolog (Drosophila):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SFSWAP Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^
SP1: - -
SP2:
SP3: - -
SP4: -
SP5: -
SP6:
SP7: -
SP8:

ExUns: 19 ^ 20
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for SFSWAP Gene

GeneLoc Exon Structure for
SFSWAP
ECgene alternative splicing isoforms for
SFSWAP

Expression for SFSWAP Gene

mRNA expression in normal human tissues for SFSWAP Gene

Protein differential expression in normal tissues from HIPED for SFSWAP Gene

This gene is overexpressed in Nasal epithelium (52.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SFSWAP Gene



Protein tissue co-expression partners for SFSWAP Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SFSWAP Gene:

SFSWAP

SOURCE GeneReport for Unigene cluster for SFSWAP Gene:

Hs.308171
genes like me logo Genes that share expression patterns with SFSWAP: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SFSWAP Gene

Orthologs for SFSWAP Gene

This gene was present in the common ancestor of animals.

Orthologs for SFSWAP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SFSWAP 35
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SFSWAP 34 35
  • 87.51 (n)
dog
(Canis familiaris)
Mammalia SFSWAP 34 35
  • 86.1 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SFSWAP 35
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sfswap 34 16 35
  • 83.67 (n)
oppossum
(Monodelphis domestica)
Mammalia SFSWAP 35
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sfswap 34
  • 82.97 (n)
chicken
(Gallus gallus)
Aves SFSWAP 35
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SFSWAP 35
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sfswap 34
  • 65.99 (n)
Str.16049 34
African clawed frog
(Xenopus laevis)
Amphibia LOC398537 34
zebrafish
(Danio rerio)
Actinopterygii sfswap 34 35
  • 60.81 (n)
zgc56184 34
fruit fly
(Drosophila melanogaster)
Insecta su(w[a]) 35
  • 28 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea swp-1 35
  • 26 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 28 (a)
OneToOne
Species where no ortholog for SFSWAP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SFSWAP Gene

ENSEMBL:
Gene Tree for SFSWAP (if available)
TreeFam:
Gene Tree for SFSWAP (if available)

Paralogs for SFSWAP Gene

(1) SIMAP similar genes for SFSWAP Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with SFSWAP: view

No data available for Paralogs for SFSWAP Gene

Variants for SFSWAP Gene

Sequence variations from dbSNP and Humsavar for SFSWAP Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs10459297 -- 131,782,699(+) CACAA(C/T)GAATA intron-variant
rs1051206 -- 131,711,214(+) CTGGA(C/G)GCCGG utr-variant-5-prime
rs1051207 -- 131,711,384(+) GGCCC(A/T)GGCTC reference, missense, utr-variant-5-prime
rs1051219 -- 131,753,205(+) ATCGA(C/T)GTGAC reference, synonymous-codon
rs1051233 -- 131,766,167(+) AAGCT(C/G)GCCCA reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for SFSWAP Gene

Variant ID Type Subtype PubMed ID
dgv1588n100 CNV gain 25217958
dgv3007n54 CNV loss 21841781
esv1251086 CNV insertion 17803354
esv2746894 CNV deletion 23290073
esv2746895 CNV deletion 23290073
esv2751042 CNV gain 17911159
esv2759922 CNV gain+loss 17122850
esv2761778 CNV gain 21179565
esv34554 CNV gain 17911159
esv3631272 CNV gain 21293372
esv3631274 CNV gain 21293372
esv997559 CNV insertion 20482838
nsv1047271 CNV gain 25217958
nsv1052544 CNV gain 25217958
nsv455803 CNV gain 19166990
nsv52992 CNV insertion 16902084
nsv560910 CNV loss 21841781
nsv560927 CNV gain 21841781
nsv560928 CNV gain 21841781
nsv818946 CNV gain 17921354
nsv826560 CNV gain 20364138
nsv832555 CNV loss 17160897
nsv9044 CNV gain 18304495

Variation tolerance for SFSWAP Gene

Residual Variation Intolerance Score: 11.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.16; 51.65% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SFSWAP Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SFSWAP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SFSWAP Gene

Disorders for SFSWAP Gene

Relevant External Links for SFSWAP

Genetic Association Database (GAD)
SFSWAP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SFSWAP

No disorders were found for SFSWAP Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SFSWAP Gene

Publications for SFSWAP Gene

  1. The mammalian homolog of suppressor-of-white-apricot regulates alternative mRNA splicing of CD45 exon 4 and fibronectin IIICS. (PMID: 8940107) Sarkissian M. … Lafyatis R. (J. Biol. Chem. 1996) 2 3 4 64
  2. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4 64
  3. Conservation of regulated alternative splicing and identification of functional domains in vertebrate homologs to the Drosophila splicing regulator, suppressor-of-white-apricot. (PMID: 8206918) Denhez F. … Lafyatis R. (J. Biol. Chem. 1994) 3 4 64
  4. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for SFSWAP Gene

Sources for SFSWAP Gene

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