Human Gene WBSCR22 (uc022afv.1) Description and Page Index
  Description: Homo sapiens Williams Beuren syndrome chromosome region 22 (WBSCR22), transcript variant 4, non-coding RNA.
RefSeq Summary (NR_045512): This gene encodes a protein containing a nuclear localization signal and an S-adenosyl-L-methionine binding motif typical of methyltransferases, suggesting that the encoded protein may act on DNA methylation. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternatively spliced transcript variants have been found. [provided by RefSeq, Feb 2011].
Transcript (Including UTRs)
   Position: hg19 chr7:73,097,898-73,112,551 Size: 14,654 Total Exon Count: 11 Strand: +

Page IndexSequence and LinksCTDRNA-Seq ExpressionMicroarray ExpressionOther Species
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr7:73,097,898-73,112,551)mRNA (may differ from genome)No protein
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerH-INV
HGNCLynxOMIMPubMedStanford SOURCETreefam

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 81.62 RPKM in Testis
Total median expression: 974.49 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.

-  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 orthologNo orthologNo orthologNo orthologNo orthologNo ortholog

-  Descriptions from all associated GenBank mRNAs
  AF412034 - Homo sapiens Williams-Beuren syndrome critical region protein 22 (WBSCR22) mRNA, complete cds.
AK296375 - Homo sapiens cDNA FLJ58006 complete cds, moderately similar to methyltransferase WBSCR22 (EC2.1.1.-).
AK315032 - Homo sapiens cDNA, FLJ95974, Homo sapiens Williams Beuren syndrome chromosome region 22(WBSCR22), mRNA.
AK309574 - Homo sapiens cDNA, FLJ99615.
BC001780 - Homo sapiens Williams Beuren syndrome chromosome region 22, mRNA (cDNA clone MGC:2022 IMAGE:3544156), complete cds.
AF420248 - Homo sapiens putative methyltransferase WBMT mRNA, complete cds.
AK291116 - Homo sapiens cDNA FLJ78132 complete cds, highly similar to Homo sapiens Williams Beuren syndrome chromosome region 22 (WBSCR22), mRNA.
BC011696 - Homo sapiens Williams Beuren syndrome chromosome region 22, mRNA (cDNA clone MGC:19709 IMAGE:3533955), complete cds.
AK091162 - Homo sapiens cDNA FLJ33843 fis, clone CTONG2005110, moderately similar to methyltransferase WBSCR22 (EC 2.1.1.-).
AX746819 - Sequence 344 from Patent EP1308459.
AJ224442 - Homo sapiens mRNA for putative methyltransferase.
BC000169 - Homo sapiens Williams Beuren syndrome chromosome region 22, mRNA (cDNA clone MGC:5140 IMAGE:2901188), complete cds.
CU680014 - Synthetic construct Homo sapiens gateway clone IMAGE:100016963 5' read WBSCR22 mRNA.
AB590720 - Synthetic construct DNA, clone: pFN21AE1774, Homo sapiens WBSCR22 gene for Williams Beuren syndrome chromosome region 22, without stop codon, in Flexi system.
HQ447136 - Synthetic construct Homo sapiens clone IMAGE:100070424; CCSB008029_01 Williams Beuren syndrome chromosome region 22 (WBSCR22) gene, encodes complete protein.
KJ899998 - Synthetic construct Homo sapiens clone ccsbBroadEn_09392 WBSCR22 gene, encodes complete protein.
AF218007 - Homo sapiens clone PP3381 unknown mRNA.
KJ904961 - Synthetic construct Homo sapiens clone ccsbBroadEn_14355 WBSCR22 gene, encodes complete protein.
JD025956 - Sequence 6980 from Patent EP1572962.
JD022695 - Sequence 3719 from Patent EP1572962.
AK126224 - Homo sapiens cDNA FLJ44236 fis, clone THYMU3007423.
JD339870 - Sequence 320894 from Patent EP1572962.
JD133800 - Sequence 114824 from Patent EP1572962.
JD424670 - Sequence 405694 from Patent EP1572962.
JD431695 - Sequence 412719 from Patent EP1572962.
JD197778 - Sequence 178802 from Patent EP1572962.
JD412734 - Sequence 393758 from Patent EP1572962.
JD512688 - Sequence 493712 from Patent EP1572962.
JD491205 - Sequence 472229 from Patent EP1572962.
JD238057 - Sequence 219081 from Patent EP1572962.
JD564689 - Sequence 545713 from Patent EP1572962.
JD209461 - Sequence 190485 from Patent EP1572962.
JD564525 - Sequence 545549 from Patent EP1572962.
JD322639 - Sequence 303663 from Patent EP1572962.
JD399805 - Sequence 380829 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00340 - Histidine metabolism
hsa00350 - Tyrosine metabolism
hsa00450 - Selenoamino acid metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: NR_045512
UCSC ID: uc022afv.1
RefSeq Accession: NR_045512

-  Gene Model Information
category: nearCoding nonsense-mediated-decay: yes RNA accession: NR_045512.1
exon count: 11CDS single in 3' UTR: no RNA size: 1159
ORF size: 0CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 646.00frame shift in genome: no % Coverage: 98.53
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.