Human Gene EWSR1 (uc003aev.3)
  Description: Homo sapiens EWS RNA-binding protein 1 (EWSR1), transcript variant 1, mRNA.
RefSeq Summary (NM_013986): This gene encodes a multifunctional protein that is involved in various cellular processes, including gene expression, cell signaling, and RNA processing and transport. The protein includes an N-terminal transcriptional activation domain and a C-terminal RNA-binding domain. Chromosomal translocations between this gene and various genes encoding transcription factors result in the production of chimeric proteins that are involved in tumorigenesis. These chimeric proteins usually consist of the N-terminal transcriptional activation domain of this protein fused to the C-terminal DNA-binding domain of the transcription factor protein. Mutations in this gene, specifically a t(11;22)(q24;q12) translocation, are known to cause Ewing sarcoma as well as neuroectodermal and various other tumors. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1 and 14. [provided by RefSeq, Jul 2009].
Transcript (Including UTRs)
   Position: hg19 chr22:29,663,998-29,696,515 Size: 32,518 Total Exon Count: 18 Strand: +
Coding Region
   Position: hg19 chr22:29,664,326-29,696,151 Size: 31,826 Coding Exon Count: 18 

Page IndexSequence and LinksPrimersMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
Other NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr22:29,663,998-29,696,515)mRNA (may differ from genome)Protein (661 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIOMIMPubMedTreefamUniProtKBWikipedia
BioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: EWSR1
Diseases sorted by gene-association score: ewing sarcoma* (953), desmoplastic small round cell tumor* (390), extraskeletal ewing sarcoma* (368), melanoma of soft tissue* (350), chondrosarcoma, extraskeletal myxoid* (213), sarcoma (40), myxoid chondrosarcoma (36), extraosseous ewing's sarcoma (34), clear cell sarcoma (34), myoepithelial carcinoma (25), fibrous histiocytoma (21), myxoid liposarcoma (21), histiocytoma (20), connective tissue cancer (19), extraosseous chondrosarcoma (18), ewing's family of tumors (18), chondrosarcoma (18), bladder sarcoma (14), liposarcoma (13), bone ewing's sarcoma (12), soft tissue sarcoma (11), kidney rhabdoid cancer (11), synovium cancer (10), embryonal rhabdomyosarcoma (9), small cell osteogenic sarcoma (9), bone epithelioid hemangioma (9), vulvar sarcoma (8), olfactory neuroblastoma (8), cauda equina neoplasm (7), integumentary system benign neoplasm (7), conventional central osteosarcoma (7), askin's tumor (7), myasthenic syndrome, congenital, 5 (6), biphasic synovial sarcoma (6), orbital cancer (6), localized osteosarcoma (6), juxtacortical chondroma (5), kidney fibrosarcoma (5), bone cancer (5), lung sarcoma (5), wilms tumor susceptibility-5 (5), mesenchymal cell neoplasm (5), muscle cancer (5), skin sarcoma (5), ideomotor apraxia (4), rhabdomyosarcoma 2, alveolar (4), rhabdomyosarcoma (4), rhabdoid cancer (4), malignant mesenchymoma (4), melanoma (3), cell type cancer (1), skeletal muscle cancer (1), nervous system cancer (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 140.10 RPKM in Testis
Total median expression: 4107.45 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -119.80328-0.365 Picture PostScript Text
3' UTR -79.84364-0.219 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF00076 - RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)
PF00641 - Zn-finger in Ran binding protein and others

SCOP Domains:
54928 - RNA-binding domain, RBD
90209 - Znf265, first zinc-finger domain

ModBase Predicted Comparative 3D Structure on Q01844-5
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
 Gene Details    
 Gene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Descriptions from all associated GenBank mRNAs
  JX977847 - Homo sapiens EWS RNA-binding protein variant 6 (EWSR1) mRNA, complete cds, alternatively spliced.
JD066008 - Sequence 47032 from Patent EP1572962.
X66899 - H.sapiens EWS mRNA.
BC000527 - Homo sapiens Ewing sarcoma breakpoint region 1, mRNA (cDNA clone MGC:8607 IMAGE:2961279), complete cds.
AK127624 - Homo sapiens cDNA FLJ45722 fis, clone HCASM2008154, weakly similar to RNA-binding protein EWS.
CR456490 - Homo sapiens EWSR1 full length open reading frame (ORF) cDNA clone (cDNA clone C22ORF:pGEM.EWSR1).
JD558476 - Sequence 539500 from Patent EP1572962.
JD442031 - Sequence 423055 from Patent EP1572962.
JD061910 - Sequence 42934 from Patent EP1572962.
AK225102 - Homo sapiens mRNA for Ewing sarcoma breakpoint region 1 isoform EWS variant, clone: CAS09229.
AK056309 - Homo sapiens cDNA FLJ31747 fis, clone NT2RI2007377, highly similar to RNA-BINDING PROTEIN EWS.
BC004817 - Homo sapiens Ewing sarcoma breakpoint region 1, mRNA (cDNA clone MGC:5432 IMAGE:3449145), complete cds.
AK056681 - Homo sapiens cDNA FLJ32119 fis, clone PEBLM1000034, highly similar to RNA-BINDING PROTEIN EWS.
AK225096 - Homo sapiens mRNA for Ewing sarcoma breakpoint region 1 isoform EWS variant, clone: CAS06131.
BC072442 - Homo sapiens Ewing sarcoma breakpoint region 1, mRNA (cDNA clone MGC:87992 IMAGE:6047805), complete cds.
AF254086 - Homo sapiens EWS/ZSG fusion protein short isoform (EWS/ZSG fusion) mRNA, complete cds.
BC011048 - Homo sapiens Ewing sarcoma breakpoint region 1, mRNA (cDNA clone MGC:16900 IMAGE:4340116), complete cds.
EU487217 - Homo sapiens EWS/FLI fusion protein mRNA, complete cds.
AF327066 - Homo sapiens Ewings sarcoma EWS-Fli1 (type 1) oncogene mRNA, complete cds.
CU687234 - Synthetic construct Homo sapiens gateway clone IMAGE:100022982 5' read EWSR1 mRNA.
KJ896789 - Synthetic construct Homo sapiens clone ccsbBroadEn_06183 EWSR1 gene, encodes complete protein.
CU679880 - Synthetic construct Homo sapiens gateway clone IMAGE:100020730 5' read EWSR1 mRNA.
AB463036 - Synthetic construct DNA, clone: pF1KB4506, Homo sapiens EWSR1 gene for Ewing sarcoma breakpoint region 1, without stop codon, in Flexi system.
CU013375 - Homo sapiens EWSR1, mRNA (cDNA clone IMAGE:100000250), complete cds, without stop codon, in Gateway system.
KJ905742 - Synthetic construct Homo sapiens clone ccsbBroadEn_15412 EWSR1 gene, encodes complete protein.
KJ905743 - Synthetic construct Homo sapiens clone ccsbBroadEn_15413 EWSR1 gene, encodes complete protein.
CU013087 - Homo sapiens EWSR1, mRNA (cDNA clone IMAGE:100000346), complete cds, with stop codon, in Gateway system.
JD475517 - Sequence 456541 from Patent EP1572962.
BX648769 - Homo sapiens mRNA; cDNA DKFZp686M2044 (from clone DKFZp686M2044).
JD077615 - Sequence 58639 from Patent EP1572962.
JD285196 - Sequence 266220 from Patent EP1572962.
FJ573261 - Homo sapiens isolate M01 EWSR1/NFATC2 fusion protein mRNA, partial cds.
JN202448 - Homo sapiens EWSR1/ATF1 fusion protein type 5 mRNA, partial cds.
JN624779 - Homo sapiens EWSR1/ATF1 fusion protein type 7 mRNA, partial cds.
JD182742 - Sequence 163766 from Patent EP1572962.
JD084497 - Sequence 65521 from Patent EP1572962.
JD068443 - Sequence 49467 from Patent EP1572962.
AF524261 - Homo sapiens extraskeletal myxoid chondrosarcoma EWS/TEC/CHN fusion protein mRNA, partial cds.
EU327511 - Homo sapiens EWSR1/ZNF384 fusion protein (EWSR1/ZNF384 fusion) mRNA, partial cds.
JD103864 - Sequence 84888 from Patent EP1572962.
JD176985 - Sequence 158009 from Patent EP1572962.
AL833489 - Homo sapiens mRNA; cDNA DKFZp686I2029 (from clone DKFZp686I2029).
AK026270 - Homo sapiens cDNA: FLJ22617 fis, clone HSI05379, highly similar to HSEWS Homo sapiens EWS mRNA.
AK096787 - Homo sapiens cDNA FLJ39468 fis, clone PROST2012504, highly similar to RNA-BINDING PROTEIN EWS.
JD050035 - Sequence 31059 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: EWS, NM_013986, NP_053733, Q01844-5
UCSC ID: uc003aev.3
RefSeq Accession: NM_013986
Protein: Q01844-5, splice isoform of Q01844 CCDS: CCDS13851.1, CCDS13852.2, CCDS54513.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_013986.3
exon count: 18CDS single in 3' UTR: no RNA size: 2694
ORF size: 1986CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4080.50frame shift in genome: no % Coverage: 99.41
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.